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Sample records for anorectal malformation case

  1. Fecal incontinence in operated cases for anorectal malformations

    International Nuclear Information System (INIS)

    Fondelli, P.; Taccone, A.; Martucciello, G.; Dodero, P.; Caffarena, P.

    1989-01-01

    In spite of great progress in surgical treatment of anorectal malformations, fecal incontinence is still, in variable degrees, a frequent and unpleasant postsurgical sequela. The most frequent causes of incontinence are: 1) the incorrect placement of the pulled-through colon in the levator ani and sphincteric muscular complex during abdomino-perineal surgical procedures; 2) the poor development of sphinteric musculature; 3) the associated sacral anomalies. Postoperative CT helps to evaluate all the above-mentioned conditions, in view of possible new surgical procedure for improving continence (besides postoperative CT can help in choosing the more suitable surgical technique). Nine patients, aged 3 to 13 years (2 with good continence and 7 with various degrees of incontinence), were studied with pelvic postoperative CT. In the cases (2) with good continence the CT picture was: good development of sphincteric musculature and neo-anorectum correctly placed into sphinteric musculature; in the cases (3) with low degree of continence: neoanorectum correctly placed, but hypoplasic puborectal muscle; in the case (4) with complete incontinence, neo-anorectum incorrectly placed and poor development of sphinteric musculature. A further Posterior Sagittal Anorectoplasty (according Pena) is only suitable in the incontinence cases with: 1) neo-anorectum seriously misplaced; 2) good development of sphinteric musculature; 3) absence of sacral anomalies. Postoperative CT is a valid mean for demostrating all the above-mentioned conditions and for chooosing the best surgical technique in each case

  2. MR findings of congenital anorectal malformation

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    Kim, Yoo Kyung; Kim, Hyae Young; Kwag, Hyon Joo; Chung, Eun Chul; Lee, Jung Sik; Suh, Jeong Soo [Ewha Womens University, medical College, Seoul (Korea, Republic of)

    1995-05-15

    To assess the usefulness of MRI in preoperative diagnosis of congenital anorectal malformation. MR findings of 11 cases with surgically proved anorectal malformations were retrospectively reviewed and compared with operative findings, according to the level of atresia, the development of sphincter muscle, fistula and associated anomalies of other organs. Four of 11 cases were low type of anorectal atresia, 3 cases were intermediate type, and 3 cases were high type. There was one case of Currarino triad with low type of anorectal stenosis. MRI demonstrated the levels of atresia correctly in all cases and revealed fistulas in all high type of anomalies. Degrees of the development of the sphincter muscles were good in all cases of low types and fair in a case of intermediate type and an anorectal stenosis, whereas the development was poor in 2 cases of intermediate type and all 4 cases of high type. The associated anomalies in anorectal malformation were renal agenesis, congenital hip dysplasia and sacral defect with presacral teratoma in Currarino triad. MRI was a simple and useful study to confirm the level of atresia, fistula and associated anomalies in the diagnosis of the congenital anorectal malformation.

  3. MR findings of congenital anorectal malformation

    International Nuclear Information System (INIS)

    Kim, Yoo Kyung; Kim, Hyae Young; Kwag, Hyon Joo; Chung, Eun Chul; Lee, Jung Sik; Suh, Jeong Soo

    1995-01-01

    To assess the usefulness of MRI in preoperative diagnosis of congenital anorectal malformation. MR findings of 11 cases with surgically proved anorectal malformations were retrospectively reviewed and compared with operative findings, according to the level of atresia, the development of sphincter muscle, fistula and associated anomalies of other organs. Four of 11 cases were low type of anorectal atresia, 3 cases were intermediate type, and 3 cases were high type. There was one case of Currarino triad with low type of anorectal stenosis. MRI demonstrated the levels of atresia correctly in all cases and revealed fistulas in all high type of anomalies. Degrees of the development of the sphincter muscles were good in all cases of low types and fair in a case of intermediate type and an anorectal stenosis, whereas the development was poor in 2 cases of intermediate type and all 4 cases of high type. The associated anomalies in anorectal malformation were renal agenesis, congenital hip dysplasia and sacral defect with presacral teratoma in Currarino triad. MRI was a simple and useful study to confirm the level of atresia, fistula and associated anomalies in the diagnosis of the congenital anorectal malformation

  4. Dyssynergic defecation may aggravate constipation : results of mostly pediatric cases with congenital anorectal malformation

    NARCIS (Netherlands)

    van Meegdenburg, Maxime M.; Heineman, Erik; Broens, Paul M. A.

    BACKGROUND: Most patients with congenital anorectal malformation suffer from mild chronic constipation. To date, it is unclear why a subgroup of patients develops a persistent form of constipation. Because dyssynergic defecation is a common cause of constipation in the general population, we

  5. Spontaneous ileal perforation complicating low anorectal malformation

    Directory of Open Access Journals (Sweden)

    TiJesuni Olatunji

    2015-01-01

    Full Text Available Anorectal malformation is a common anomaly in neonates. Although colorectal perforations have been reported as a complication, ileal perforation is rarely encountered. This is a report of a 2-day-old boy presenting with a low anorectal malformation, complicated with ileal perforation, necessitating laparotomy and ileal repair. Anoplasty was done for the low anomaly. Early presentation and prompt treatment of anorectal malformations is important to prevent such potential life threatening complication.

  6. Assisted reproductive techniques and the risk of anorectal malformations: a German case-control study.

    Science.gov (United States)

    Zwink, Nadine; Jenetzky, Ekkehart; Schmiedeke, Eberhard; Schmidt, Dominik; Märzheuser, Stefanie; Grasshoff-Derr, Sabine; Holland-Cunz, Stefan; Weih, Sandra; Hosie, Stuart; Reifferscheid, Peter; Ameis, Helen; Kujath, Christina; Rissmann, Anke; Obermayr, Florian; Schwarzer, Nicole; Bartels, Enrika; Reutter, Heiko; Brenner, Hermann

    2012-09-15

    The use of assisted reproductive techniques (ART) for treatment of infertility is increasing rapidly worldwide. However, various health effects have been reported including a higher risk of congenital malformations. Therefore, we assessed the risk of anorectal malformations (ARM) after in-vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI). Data of the German Network for Congenital Uro-REctal malformations (CURE-Net) were compared to nationwide data of the German IVF register and the Federal Statistical Office (DESTATIS). Odds ratios (95% confidence intervals) were determined to quantify associations using multivariable logistic regression accounting for potential confounding or interaction by plurality of births. In total, 295 ARM patients born between 1997 and 2011 in Germany, who were recruited through participating pediatric surgeries from all over Germany and the German self-help organisation SoMA, were included. Controls were all German live-births (n = 10,069,986) born between 1997 and 2010. Overall, 30 cases (10%) and 129,982 controls (1%) were born after IVF or ICSI, which translates to an odds ratio (95% confidence interval) of 8.7 (5.9-12.6) between ART and ARM in bivariate analyses. Separate analyses showed a significantly increased risk for ARM after IVF (OR, 10.9; 95% CI, 6.2-19.0; P risk for ARM among children born after ART. Elevations of risk were seen after both IVF and ICSI. Further, separate analyses of patients with isolated ARM, ARM with associated anomalies and those with a VATER/VACTERL association showed increased risks in each group. An increased risk of ARM was also seen among both singletons and multiple births.

  7. Three dimensional animated images of anorectal malformations

    International Nuclear Information System (INIS)

    Ueno, Shigeru; Yanagimachi, Noriharu; Muro, Isao; Komiya, Taizo; Yokoyama, Seishichi; Hirakawa, Hitoshi; Tajima, Tomoo; Mitomi, Toshio; Suto, Yasuzo.

    1996-01-01

    Accurate reconstruction of the pelvic structures is a most important factor in obtaining a desirable result after anorectoplasty for a patient with anorectal malformation. Preoperative evaluation of the anatomy is indispensable for choosing an appropriate operative method in each case. To facilitate preoperative evaluation, three dimensional animated images of the pelvic structure of patients with anorectal malformations were constructed by computer graphics based upon tomographic images obtained from magnetic resonance imaging. Axial 1-mm thick images of the pelvic portion were generated with spoiling pulse gradient echo sequences using short repetition times (13 msec TR) and short echo times (6 msec TE) with a flip angle of 25 degrees with the patient in the jack-knife position. Graphic data from MR images were transferred to a graphic work station and processed on it. The skin surface, the ano-rectum, the lower urinary tract and the sphincter musculature were segmented by thresholding images by the signal intensity. Three dimensional images were displayed by surface rendering method using the segmented data of each organ and then animation images of these organs were obtained. The anatomy of each type of anomaly was easily recognized by 3-D visualization, and animation of the pelvic viscera and the sphincter musculature made the images more realistic. Animated images of the musculature were especially useful for simulating surgical procedures and could be helpful for reviewing surgical results. (author)

  8. The posterior urethra in anorectal malformations.

    Science.gov (United States)

    Mickelson, Jennifer J; MacNeily, Andrew E; Blair, Geoffrey K

    2007-03-01

    Anorectal malformations are commonly associated with recto-urethral fistulas. Definitive repair of these anomalies may result in injury to the bladder and urethra. Accurate preoperative assessment of the anatomy is imperative to identify the structures and avoid unnecessary injury. This brief report provides radiographic images that demonstrate these anomalies.

  9. Underdiagnosis of Mild Congenital Anorectal Malformations

    NARCIS (Netherlands)

    Jonker, Jara E.; Trzpis, Monika; Broens, Paul M. A.

    Objective: To determine whether the frequency and severity of congenital anorectal malformations (CARMs) differs by sex. Study design: We included 129 patients (0-319 weeks old) diagnosed with CARMs, who had been referred to our Department of Pediatric Surgery between 2004 and 2013. Rectoperineal

  10. Urogenital tract anomalies in children with congenital anorectal malformation

    NARCIS (Netherlands)

    J.W. Hoekstra

    1991-01-01

    textabstractThe term 'imperforate anus' covers a variety of congenital anorectal malformations ranging in severity from anal stenosis to cloacal exstrophy. The clinical picture of the anorectal malformation has been known for thousands of years, during which many attempts have been made to find

  11. A rare association of rectal and genitourinary duplication and anorectal malformation

    Institute of Scientific and Technical Information of China (English)

    王俊; 施诚仁; 余世耀; 吴燕; 徐长辉

    2003-01-01

    @@ It is very rare to see multiple malformations occurring in both the urogenital and digestive systems in a case of congenital anorectal malformation. In this particular care, an imperforated anus occurred with other multiple malformations, including a double kidney, urethral duplication and rectal duplication, etc.

  12. Colostomy for anorectal malformation in a tertiary center in Nigeria ...

    African Journals Online (AJOL)

    Background: Anorectal malformations constitute a wide spectrum of congenital anorectal abnormalities ranging from absent anus to anal membranes and fistulae. It is one major indication for the creation of colostomy in early neonatal life. This study was aimed at o describe and highlight the place of colostomy in the ...

  13. Anorectal malformation associated with a perineal protrusion of the rectal mucosa: case presentation.

    Science.gov (United States)

    Shinkai, Masato; Mochizuki, Kyoko; Hirata, Yoshihiro; Honda, Shohei; Kitagawa, Norihiko; Take, Hiroshi; Ohhama, Youkatsu; Tanaka, Mio; Tanaka, Yukichi

    2009-09-01

    We present a rare case of a female neonate with an imperforate anus associated with a perineal mass which may correspond to an extrophied rectal duplication. Associated anomalies were thoracic hemivertebrae and a multicystic dysplastic kidney. Excision of the perineal lesion followed by anal transplantation and perineal reconstruction corrected the anomaly.

  14. [Exstrophy of rectal duplication associated with anorectal malformation and penoscrotal transposition with perineal hypospadias. A case report].

    Science.gov (United States)

    Fernández Fernández, Jesús Angel; Parodi Hueck, Luis; Carrasco Fermín, Joanna

    2014-06-01

    We present the case of a male patient who required treaatment due to anorectal agenesis with recto urethral fistula and penoscrotal transposition with perineal hypospadias, associated with a perineal tumor. The perineal tumor was found strongly adhered and contiguous to the rectum which makes it compatible with an exstrophy of rectal duplication. Surgical reconstruction of the birth defect was performed in stages until acceptable biological function and esthetic results were obtained.

  15. MR imaging of anorectal malformations and associated anomalies

    International Nuclear Information System (INIS)

    Nievelstein, R.A.J.; Valk, J.; Vos, A.

    1998-01-01

    Congenital anorectal malformations are found in many forms, and are frequently associated with other anomalies, especially of the spinal cord, spine, and urogenital system. Decisions concerning initial management of children with anorectal malformations can be made only after accurate determination of (a) the level and type of malformation, (b) the type of fistula, (c) the developmental state of the sphincter muscle complex, and (d) the presence of associated anomalies. Magnetic resonance imaging has proven to be the only modality to answer all these crucial questions, and has contributed to a better insight in the morphology and pathogenesis of such complex congenital malformations. (orig.)

  16. Outcome of excision of megarectum in children with anorectal malformation.

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    Keshtgar, Alireza S; Ward, Harry C; Richards, Catherine; Clayden, Graham S

    2007-01-01

    Megarectum in association with anorectal malformation contributes to chronic constipation and fecal incontinence. Resection of megarectum in anorectal malformation improves bowel function, but neuropathy and poor sphincter quality may affect the outcome of fecal continence adversely. The aim of this study was to evaluate the benefits of resection of megarectum in anorectal malformation and to ascertain the impact of anal sphincter quality and neuropathy on the outcome. We studied 62 children with intractable fecal incontinence after repair of anorectal malformation between January 1991 and January 2005. All patients were investigated with anorectal manometry and anal endosonography under ketamine anesthesia. On endosonography, an intact or scarred internal anal sphincter (IAS) was classified as good and a fragmented or absent IAS as poor. On manometry, a resting anal sphincter pressure equal to or more than 30 mm Hg was classified as good and a lower pressure as poor. Functional assessment of fecal continence was done before and after excision of megarectum using a modified Wingfield scores. Sixteen children had excision of megarectum with median age of 9 years (range, 2-15 years) and postoperative follow-up of 5 years (range, 1-10 years). Seven had formation of antegrade continent enema stoma before excision of megarectum. Children were classified into three groups of anomalies: low (n = 6), intermediate (n = 4), and high (n = 6). All children were incontinent of feces. After excision of megarectum, of the 9 children with good IAS and no neuropathy, 7 became continent of feces. Of the remaining 7 children, 4 had poor IAS and 3 had neuropathy, 5 of whom required an antegrade continent enema stoma to be clean. Excision of megarectum in children who had previous repair of anorectal malformation results in fecal continence in the presence of a good IAS and absence of neuropathy. Patients with a poor IAS or neuropathy will often require artificial means of fecal

  17. Association of anorectal malformation with anal and rectal duplication

    Directory of Open Access Journals (Sweden)

    Karla A. Santos-Jasso

    2014-08-01

    We present three cases of rectal duplications with anorectal malforma- tion with recto-perineal fistula and colonic duplication. Two of them with delayed diagnosis and bowel obstruction, treated with laparotomy, colostomy and side-to-side anastomosis of the proximal colonic duplica- tion; in the third case the diagnosis of the colonic and rectal duplication was made during a colostomy opening. For definitive correction, the three patients underwent abdomino-perineal approach and side-to-side anastomosis of the rectal duplication, placement of the rectum within the muscle complex, and later on colostomy closure. In a fourth patient with anorectal malformation and colostomy after birth, the perineal electro-stimulation showed two muscle complexes. A posterior sagittal approach in both showed two separate blind rectal pouches; an end- to-side anastomosis of the dilated rectum was made, and the muscle complex with stronger contraction was used for the anoplasty. The posterior sagittal approach is the best surgical option to preserve the muscle complex, with a better prognosis for rectal continence.

  18. Anorectal malformations in neonates | Mirza | African Journal of ...

    African Journals Online (AJOL)

    Background: Anorectal malformations (ARM) are associated with congenital anomalies and other risk factors, yielding a poor prognosis, especially in neonatal life. Objectives: This study was performed to identify the congenital anomalies as a factor of poor prognosis (mortality) in such patients. Settings: Department of ...

  19. Umbilical site for temporary colostomy in anorectal malformations: is ...

    African Journals Online (AJOL)

    Umbilical site for temporary colostomy in anorectal malformations: is it cosmetically preferable? Taha Alkhatrawi, Radi Elsherbini and Djamal Ouslimane. Purpose In an attempt to minimize the scars and improve the cosmetic outcome in children, the umbilical site has been chosen for colostomy formation in patients with.

  20. Current management of anorectal malformation in Egypt: a survey of ...

    African Journals Online (AJOL)

    Background/aim: Anorectal malformation (ARM) represents a wide spectrum of anomalies. Its management includes various strategies. This survey aims at detecting the current preferences of Egyptian pediatric surgeons regarding the management of ARM. Materials and methods: A survey was circulated individually to the ...

  1. De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations

    NARCIS (Netherlands)

    Dworschak, G.C.; Draaken, M.; Marcelis, C.; Blaauw, I. de; Pfundt, R.P.; Rooij, I.A.L.M. van; Bartels, E.; Hilger, A.; Jenetzky, E.; Schmiedeke, E.; Grasshoff-Derr, S.; Schmidt, D.; Marzheuser, S.; Hosie, S.; Weih, S.; Holland-Cunz, S.; Palta, M.; Leonhardt, J.; Schafer, M.; Kujath, C.; Rissmann, A.; Nothen, M.M.; Zwink, N.; Ludwig, M.; Reutter, H.

    2013-01-01

    Anorectal malformations (ARMs) comprise a broad spectrum of conditions ranging from mild anal anomalies to complex cloacal malformations. In 40-50% of cases, ARM occurs within the context of defined genetic syndromes or complex multiple congenital anomalies, such as VATER/VACTERL (vertebral defects

  2. Delayed presentation of anorectal malformation for definitive surgery.

    Science.gov (United States)

    Sharma, Shilpa; Gupta, Devendra K

    2012-08-01

    To retrospectively study the outcome of patients with anorectal malformations (ARM) presenting late for definitive procedure. Patients with ARM presenting beyond 5 months of age managed from January 2008 to March 2012 were studied for clinical outcome. Ages at presentation varied from 5 months to 14 years, seven patients were older than 5 years of age. Of the 36 cases, 5 patients (3 boys and 2 girls) had presented with colostomy done elsewhere. Four patients had high anomalies. Of the 33 girls, 14 had rectovestibular fistula and 9 had anovestibular fistula. Bowel preparation with peglec was used in patients without colostomy. Preoperative retention enemas, laxatives and Hegar dilators were used for 3-11 days before surgery. On table irrigation was required in four. Patients without a covering colostomy were kept nil per oral for 5 days following surgery in prone/lateral position. Two patients had mild post-op wound infection, and were managed with local care. Delayed presentation of ARM especially in girls is quite common in developing countries. With proper perioperative care, these cases may be managed successfully with a single stage procedure in most cases. The mature tissue growth with age allows proper tissue dissection and good repair of the perineal body in girls.

  3. Postoperative MRI evaluation of anorectal malformations with clinical correlation

    International Nuclear Information System (INIS)

    Fukuya, T.; Honda, H.; Kubota, M.; Hayashi, T.; Kawashima, A.; Tateshi, Y.; Shono, T.; Suita, S.; Masuda, K.

    1993-01-01

    Sixteen postoperative patients with anorectal malformation were evaluated by MRI, and the results compared with the clinical assessment. Patients were classified into three groups - good (group 1, n = 10), fair (group 2, n = 3) and poor (group 3, n = 3) - on the basis of Kelly's clinical score of incontinence. The degree of development of the puborectalis and external sphincter muscles and the levator hammock was evaluated on MRI in comparison with patients without anorectal disease. The proportions of fair or poor development of the muscles were 37% in group 1,22% in group 2 and 67% in group 3. Although fair or poor development of the muscles was seen more frequently in group 3, there was no statistically significant difference between groups. However, poorly developed muscles were seen only in patients with fair or poor clinical scores. The difference in the anorectal angle measured on sagittal MRI images between patients in group 1 and groups 2 or 3 was significant. Our study indicates that MRI evaluation based solely on muscle development can be misleading, and measurement of the anorectal angle should be included in the MRI evaluation. (orig.)

  4. Parental Subfertility, Fertility Treatment, and the Risk of Congenital Anorectal Malformations

    NARCIS (Netherlands)

    Wijers, Charlotte H. W.; van Rooij, Iris A. L. M.; Rassouli, Roxana; Wijnen, Marc H.; Broens, Paul M. A.; Sloots, Cornelius E. J.; Brunner, Han G.; De Blaauw, Ivo; Roeleveld, Nel

    Background: Fertility treatment seems to play a role in the etiology of congenital anorectal malformations, but it is unclear whether the underlying parental subfertility, ovulation induction, or the treatment itself is involved. Therefore, we investigated the odds of anorectal malformations among

  5. One stage correction of anorectal malformations in newborns

    Directory of Open Access Journals (Sweden)

    Makedonsky I.O.

    2015-06-01

    Full Text Available The retrospective analysis of case histories of 35 infants (19 boys, 16 girls, treated in the department of reconstructive surgery of Dnipropetrovsk center of mother and child health in the period 2008-2013 was done. All the patients underwent one-stage treatment of anorectal malformations in neonatal period. Surgery was performed in the first 48 hours of life. Body weight of infants ranged from 2,8 to 4,4 kg (average weight 3,2 kg. Among related conditions there were observed vesico-ureteral reflux (VUR – in 11 (31,4%, VATER association - in 6 (17.1%, malformations of the spine – in 18 (51,4%, of the heart – in 2 (5,7% . During cystoscopy fistula in the urinary system was revealed in 16 boys. Surgical treatment was carried out by the posterior sagittal anorectoplasty (PSARP by A.Pena. 2 patients additionally underwent laparotomy. Among 16 patients with fistula in the urinary system, prostatic urethra fistula was revealed in 14, bladder neck fistula – in 2. Children were discharged from the hospital 2 weeks after surgery. All the children re­ceived anti­biotics due to the presence of VUR. After 1 month after surgery VCUG was performed. Long-term results were studied for a period of 10 to 24 months. All patients had VUR without evidence of hydronephrosis. In the period of 3-6 months after surgery 2 patients presented anal stenosis due to violation of dilatation. The evaluation results in the late period (10-24 months after surgery noted the presence of normal stool 2-3 times a day, 3 children had periodic con­stipations treated by diet. Available merits of the described method: only one operation and general anesthesia is per­for­med, no risk of prolonged contamination by pathogenic flora of the urinary system through the fistula, potential risk of complications of laparotomy and colostomy decreases, fistula visualization in cystoscopy allows to avoid the X-ray.

  6. Functional Outcome of Anorectal Malformations and Associated Anomalies in Era of Krickenbeck Classification

    International Nuclear Information System (INIS)

    Qazi, S. H.; Faruque, A. V.; Khan, M. A. M.

    2016-01-01

    Objective: To describe the management and functional outcome of anorectal malformations and associated anomalies according to Krickenbeck classification. Study Design: Case series. Place and Duration of Study: The Aga Khan University Hospital, Karachi, from January 2002 to December 2012. Methodology: Anorectal anomalies were classified according to Krickenbeck classification. Data was collected and proforma used regarding the primary disease associated anomalies, its management and functional outcome, according to Krickenbeck classification. Cases included were: all those children with imperforate anus managed during the study period. Qualitative variables like gender and functional outcome were reported as frequencies and percentages. Quantitative variables like age were reported as medians with interquartile ranges. Results: There were 84 children in study group. Most common associated anomaly was cardiac (38 percent), followed by urological anomaly (33 percent). All children were treated by Posterior Sagittal Anorectoplasty (PSARP). Fistula was present in 64 out of 84 (76 percent) cases. The most common fistula was rectourethral (33 percent), followed by recto vestibular (31 percent). According to Krickenbeck classification, continence was achieved in 62 percent children; however 27 percent children were constipated, followed by 12 percent children having fecal soiling. Conclusion: Functional outcome of anorectal malformation depends upon severity of disease. A thorough evaluation of all infants with ARM should be done with particular focus on cardiovascular (38 percent) and genitourinary abnormalities (33 percent). (author)

  7. Complete Familial Currarino Triad in Association with Hirschsprung's Disease: Magnetic Resonance Imaging Features and the Spectrum of Anorectal Malformations

    Energy Technology Data Exchange (ETDEWEB)

    Kilickesmez, O.; Hakki Gol, I.; Uzun, M.; Oruk, C. [Diyarbakir Military Hospital (Turkey). Dept. of Radiology

    2006-07-15

    Currarino syndrome, a rare hereditary condition, is defined as a partial sacral agenesis associated with a presacral mass and anorectal malformation. The authors present two siblings with complete Currarino triad and their mother with incomplete triad. The complete Currarino triad in the older sibling was associated with Hirschsprung's disease as the second reported case in the literature. Anorectal malformations, whether suspected of Currarino syndrome or not, should be examined with lumbosacral magnetic resonance imaging.

  8. Factors affecting quality of life of children and adolescents with anorectal malformations or Hirschsprung disease

    NARCIS (Netherlands)

    Hartman, Esther E.; Oort, Frans J.; Sprangers, Mirjam A. G.; Hanneman, Marianne J. G.; van Heurn, L. W. Ernest; de Langen, Zacharias J.; Madern, Gerard C.; Rieu, Paul N. M. A.; van der Zee, David C.; Looyaard, Nic; van Silfhout-Bezemer, Marina; Aronson, Daniel C.

    2008-01-01

    Objectives: First, to compare the quality of life (QL) and perceived self-competence of children and adolescents with anorectal malformations or Hirschsprung disease with that of reference groups. Second, to identify predictors of QL. Patients and Methods: A total of 491 patients with anorectal

  9. Factors affecting quality of life of children and adolescents with anorectal malformations or Hirschsprung disease

    NARCIS (Netherlands)

    Hartman, Esther E.; Oort, Frans J.; Sprangers, Mirjam A. G.; Hanneman, Marianne J. G.; van Heurn, L. W. Ernest; de Langen, Zacharias J.; Madern, Gerard C.; Rieu, Paul N. M. A.; van der Zee, David C.; Looyaard, Nic; van Silfhout-Bezemer, Marina; Aronson, Daniel C.

    2008-01-01

    OBJECTIVES: First, to compare the quality of life (QL) and perceived self-competence of children and adolescents with anorectal malformations or Hirschsprung disease with that of reference groups. Second, to identify predictors of QL. PATIENTS AND METHODS: A total of 491 patients with anorectal

  10. Evaluation of postoperative anal functions using endoanal ultrasonography and anorectal manometry in children with congenital anorectal malformations.

    Science.gov (United States)

    Wang, Zhichao; Hu, Lijun; Jin, Xianqing; Li, Xiaoqing; Xu, Lixia

    2016-03-01

    The aim of this study was to assess the postoperative anorectal anatomy and function in children with congenital anorectal malformations (ARM) using endoanal ultrasonography (EUS) and anorectal manometry. This study included 47 children who had undergone posterior sagittal anorectoplasty (PSARP) or transperineal anorectoplasty for the repair of an ARM. Children were grouped according to symptoms of defecation disorder, including normal defecation, fecal soiling, fecal incontinence, and constipation. Ten children with no history of anal or rectal diseases served as healthy controls. A well-established scoring system was used for the evaluation of anal function and defecation disorder. EUS showed significant differences in the thickness of the interior sphincter between the ARM patients and the healthy controls (Pinterior sphincters between the PSARP group and transperineal anorectoplasty group (P>0.05). Anorectal manometry showed that the balloon volumes were significantly different between the surgical group and the control group (Pchildren with ARM. Copyright © 2016 Elsevier Inc. All rights reserved.

  11. Loop versus divided colostomy for the management of anorectal malformations.

    Science.gov (United States)

    Oda, Omar; Davies, Dafydd; Colapinto, Kimberly; Gerstle, J Ted

    2014-01-01

    The purpose of this study was to compare the clinical outcomes of loop and divided colostomies in patients with anorectal malformations (ARM). We performed a retrospective cohort study reviewing the medical records of all patients with ARM managed with diverting colostomies between 2000 and 2010 at our institution. Independent variables and outcomes of stoma complications were analyzed by parametric measures and logistic regression. One hundred forty-four patients managed with a colostomy for ARM were evaluated (37.5% females, 50.7% loop, 49.3% divided). The incidence of patients with loop and divided colostomies who developed stoma-related complications was 31.5 and 15.5%, respectively (p=0.031). The incidence of prolapse was 17.8 and 2.8%, respectively (p=0.005). Multivariable-logistic regression controlling for other significant independent variables found loop colostomies to be positively associated with the development of a stoma complication (OR 3.13, 95%CI (1.09, 8.96), p=0.033). When individual complications were evaluated, it was only stoma prolapse that was more likely in patients with loop colostomies (OR 8.75, 95%CI (1.74, 44.16), p=0.009). Because of the higher incidence of prolapse, loop colostomies were found to be associated with a higher total incidence of complications than divided stomas. The development of other complications, including urinary tract infections (UTIs) and megarectum, were independent of the type of colostomy performed. © 2014.

  12. Utility of spinal MRI in children with anorectal malformation

    Energy Technology Data Exchange (ETDEWEB)

    Miyasaka, Mikiko; Nosaka, Shunsuke; Tsutsumi, Yoshiyuki [National Centre for Child Health and Development, Radiology, Tokyo (Japan); Kitano, Yoshihiro [Saitama Children' s Medical Centre, Paediatric Surgery, Saitama (Japan); Ueoka, Katsuhiko [National Centre for Child Health and Development, Paediatric Urology, Tokyo (Japan); Kuroda, Tatsuo; Honna, Toshiroh [National Centre for Child Health and Development, Paediatric Surgery, Tokyo (Japan)

    2009-08-15

    The association between spinal cord anomalies and imperforate anus is well recognized. Until now, the incidence of tethered cord has been assumed to be higher in patients with high-type imperforate anus. However, recent reports suggest that tethered cord is as common in patients with a low lesion as in those with a high lesion. To review the incidence of spinal cord anomalies in those with a low lesion and those with a high (including intermediate) anorectal malformation (ARM), and to determine the best diagnostic imaging strategy. A group of 50 consecutive patients with postoperative ARM and in whom spinal MRI had been performed were identified retrospectively. We reviewed and compared the following factors between those with a high lesion and those with a low lesion: (1) clinical symptoms, (2) spinal cord anomalies, and (3) vertebral anomalies. The incidence of spinal cord anomalies was no different between those with a high lesion and those with a low lesion, and spinal cord anomalies were present regardless of the presence of vertebral anomalies or symptoms. Owing to the high incidence of spinal cord anomalies in patients with imperforate anus, MRI is the best imaging tool for detecting such anomalies regardless of the level of the lesion. (orig.)

  13. Prevalence of Active Long-term Problems in Patients With Anorectal Malformations: A Systematic Review.

    Science.gov (United States)

    Rigueros Springford, Laurie; Connor, Martin J; Jones, Katie; Kapetanakis, Venediktos V; Giuliani, Stefano

    2016-06-01

    Anorectal malformations are a spectrum of congenital anomalies of the rectum with high infantile survival rates and variable outcomes. Long-term (>10 years old) active problems associated with this condition have been poorly investigated. The purpose of this review was to systematically define the prevalence of the most common active long-term problems in patients with a history of anorectal malformation repair. MEDLINE, EMBASE, and the Cochrane Library were searched electronically using the OVID search platform. Original articles from August 1, 1994, to October 20, 2015, that included outcome data for patients aged ≥10 years with anorectal malformation. Cloaca was excluded from the study. Prevalence estimates of anorectal malformations were obtained from published articles. CIs were ascertained in the logit scale after transforming prevalence into log odds and were then transformed into the original scale. The same method was used for subgroup analysis investigating high and low anorectal malformations. The overall prevalences of fecal, urinary, and sexual dysfunction were analyzed. Twelve studies including 455 patients with a history of anorectal malformation repair were included for analysis. The range of reported prevalence of long-term active problems was as follows: fecal incontinence, 16.7% to 76.7%; chronic constipation, 22.2% to 86.7%; urinary incontinence, 1.7% to 30.5%; ejaculatory dysfunction, 15.6% to 41.2%; and erectile dysfunction, 5.6% to 11.8%. The study was limited by its retrospective, small size; multiple complex associated anomalies often not reported; and heterogeneous composition of patients with limited stratification analysis. There is an overall high prevalence of active long-term issues in adolescents and young adults with anorectal malformations. Additional multicenter research is needed to define characteristics and predictors of long-term outcome, to implement effective follow-up, and to transition to adult health care.

  14. MRI detection of posterior urethral diverticulum following surgical repair of anorectal malformations

    Directory of Open Access Journals (Sweden)

    Ishan Kumar

    2017-09-01

    Full Text Available Aim: To identify and to assess imaging and clinical features of Posterior urethral diverticula (PUD in a single-centre series and include a brief review of literature. Materials and method: Post operative MRI of 140 children from north India were retrospectively reviewed who underwent surgical repair for anorectal malformation (ARM along with the Hospital records. Results: Ten cases had MRI features of posterior urethral diverticulum. All of these patients had undergone primary abdominoperineal pull through (APPT procedure. The lesions ranged between 6 mm and 38 mm in size. Two of these lesions were missed in the post operative MRI report. Only one of these patients was symptomatic and presented with dribbling of urine and gross bilateral vesicoureteric reflux in which the diverticulum was excised surgically. Conclusion: PUD is an under-recognised entity and can be identified in preclinical stage on MRI. Careful assessment of urethra and periurethral structures should be a mandatory step in MRI evaluation of post repair ARM cases. An observational conservative approach in selected asymptomatic patients can be an effective management strategy. Keywords: Posterior urethral diverticulum, MRI, Anorectal malformation

  15. Sphincter saving anorectoplasty (SSARP for the reconstruction of Anorectal malformations

    Directory of Open Access Journals (Sweden)

    Paudel Bishnu

    2007-09-01

    Full Text Available Abstract Background This report describes a new technique of sphincter saving anorectoplasty (SSARP for the repair of anorectal malformations (ARM. Methods Twenty six males with high ARM were treated with SSARP. Preoperative localization of the center of the muscle complex is facilitated using real time sonography and computed tomography. A soft guide wire is inserted under image control which serves as the route for final pull through of bowel. The operative technique consists of a subcoccygeal approach to dissect the blind rectal pouch. The separation of the rectum from the fistulous communication followed by pull through of the bowel is performed through the same incision. The skin or the levators in the midline posteriorly are not divided. Postoperative anorectal function as assessed by clinical Wingspread scoring was judged as excellent, good, fair and poor. Older patients were examined for sensations of touch, pain, heat and cold in the circumanal skin and the perineum. Electromyography (EMG was done to assess preoperative and postoperative integrity of external anal sphincter (EAS. Results The patients were separated in 2 groups. The first group, Group I (n = 10, were newborns in whom SSARP was performed as a primary procedure. The second group, Group II (n = 16, were children who underwent an initial colostomy followed by delayed SSARP. There were no operative complications. The follow up ranged from 4 months to 18 months. Group I patients have symmetric anal contraction to stimulation and strong squeeze on digital rectal examination with an average number of bowel movements per day was 3–5. In group II the rate of excellent and good scores was 81% (13/16. All patients have an appropriate size anus and regular bowel actions. There has been no rectal prolapse, or anal stricture. EAS activity and perineal proprioception were preserved postoperatively. Follow up computed tomogram showed central placement the pull through bowel in between

  16. Two-Port Laparoscopic Descending Colostomy with Separated Stomas for Anorectal Malformations in Newborns.

    Science.gov (United States)

    Gine, Carlos; Santiago, Saioa; Lara, Alba; Laín, Ana; Lane, Victoria Alison; Wood, Richard J; Levitt, Marc

    2016-10-01

    Introduction  We describe a two-port laparoscopic technique to create a colostomy in the descending colon with separated stomas for newborns with anorectal malformations. Material and Methods  Six patients with an anorectal malformation underwent this procedure in the early-neonatal period. The surgical technique was performed with two ports, which allows for an accurate inspection of the abdominal contents. The first loop of the sigmoid colon is grasped through the first port and exteriorized while the attachments to the left retroperitoneum and direction of the loop are checked with the scope introduced in the second port. The division of the colon is performed extracorporally, the colon irrigated of meconium, and the distal colon moved to the second port incision. Both stomas are then fixed to the abdominal wall. Results  The time of the procedure ranged from 50 to 90 minutes. A Mullerian duplication was noted in one case. Oral intake was started during the first 12 to 24 hours. No complications were seen during or after the procedure. Conclusions  This technique allows for the precise localization of the colostomy with direct visualization, provides for the inspection of the internal genitalia, eliminates the incision between the two stomas and its complications, allows for painless stoma bag changes immediately after surgery, avoids twisting of the colostomy, and permits a cosmetically pleasing incision at the colostomy closure. Georg Thieme Verlag KG Stuttgart · New York.

  17. New concepts in preoperative imaging of anorectal malformation

    International Nuclear Information System (INIS)

    Taccone, A.; Delliacqua, A.; Marzoli, A.; Martucciello, G.; Jasonni, V.; Dodero, P.; Salomone, G.

    1992-01-01

    In this study of 14 patients with anorectal anomalies CT and MRI were employed for preoperative assessment. The use of a pressure enhanced water soluble enema via the colostomy proved to be an extremely efficient method for showing a fistula. MRI studies were enhanced by the use of vaseline oil and in one case this technique was used prior to surgery to provide important information by injecting through a perineal fistula. CT and axial MRI proved to be more valuable than sagittal MRI which is only useful for the length of the atretic segment. The authors consider that a combined approach using pressure enhanced water soluble enema and MRI will provide the most valuable preoperative information to plan a successful operative approach and enable an accurate prognostic evaluation of continence in these difficult and complex patients. (orig.)

  18. [Relationship of Ghrelin gene polymorphism with congenital anorectal malformation and Hirschsprung disease].

    Science.gov (United States)

    Gao, Hong; Wang, Dajia; Zhao, Xiangxuan; Mi, Jie; Bai, Yuzuo; Wang, Weilin

    2015-07-01

    To explore the relationship of Ghrelin gene polymorphism with the occurrence of human anorectal malformations (ARMs) and Hirschsprung disease(HSCR). PCR and DNA sequencing were used to detect the single nucleotide polymorphism (SNPs) of 3 loci (rs139684563, rs149447194, rs186599567) genotype of Ghrelin gene in 100 children with ARMs, 100 children with HSCR, and 100 healthy children (normal group). Genovariation and gene mutation were analyzed with case-control method. Three loci SNPs were in accordance with Hardy-Weinberg genetic equilibrium. No significant differences were found in rs139684563 allele and genotype frequencies between the cases and the normal groups (P>0.05). The allele and genotype frequencies of rs149447194 and rs186599567 were significantly different between cases and normal group (Ppolymorphism changes may be associated with the pathogenesis of ARMs and HSCR.

  19. Urethral diverticulum after laparoscopically-assisted anorectal pull-through (LAARP) for anorectal malformation: is resection of the diverticulum always necessary?

    Science.gov (United States)

    López, Pedro José; Guelfand, Miguel; Angel, Lorena; Paulos, Angélica; Cadena, Yair; Escala, José M; Letelier, Nelly; Zubieta, Ricardo

    2010-05-01

    With the increased use of minimally invasive surgery, the urethral diverticulum after anorectal surgery has become an issue. The few cases reported have been managed by surgical excision. We hereby report a case of urethral diverticulum after a laparoscopically-assisted anorectal pull-through (LAARP)procedure with a successful outcome after a period of active surveillance. A full-term boy who displayed a high anorectal malformation (ARM) and a rectoprostatic fistula underwent colostomy on the first day. He also showed associated malformations: bilateral low-grade reflux, horseshoe kidney and thoracic hemivertebrae; however, there were no signs of spinal cord tethering. Antimicrobial prophylaxis was started. At the age of 3 months, he underwent a LAARP with a 3 abdominal-port approach. After complete dissection of the distal bowel, the recto-prostatic fistula was identified and tied with metallic clips. A 10 mm trocar was inserted through the centre of the sphincteric complex, which had been previously identified under laparoscopic view during perineal electrical stimulation. The anorectal pull-through was accomplished without tension. The bladder remained stented for 14 days. On the 18th postoperative day, a voiding cystourethrogram (VCUG) showed a 15 X 5 mm image of the diverticulum at the level of the membranous urethra. After 6 months, a new VCUG showed a normal urethra with neither signs of the diverticulum nor strictures; persistence of grade 2 reflux on the right side and resolution of the reflux on the left. When the boy was one year old his colostomy was closed uneventfully. Six months later he had not come into the emergency since the operation and voided with a normal flow. This report suggests that LAARP is a feasible approach for ARM, although urethral diverticulum is a major concern. It may evolve without complications, and eventually resolve spontaneously. Active surveillance might be an option in selected asymptomatic patients; however a longer

  20. Sexual function in adults with anorectal malformation: psychosocial adaptation. German Network for Congenital Uro-REctal Malformations (CURE-Net).

    Science.gov (United States)

    Schmidt, Dominik; Winter, Sibylle; Jenetzky, Ekkehart; Zwink, Nadine; Schmiedeke, Eberhard; Maerzheuser, Stefanie

    2012-08-01

    The aim of the German Network for Congenital Uro-REctal Malformations (CURE-Net) is to collect data of affected patients with anorectal malformation (ARM) to investigate molecular causes, clinical implications and psychosocial outcome. The current issue was to examine sexual function and to explore psychosocial adaptation in adults with ARM. This qualitative study using narrative inquiry is part of a larger multi-center study of clinical queries and quality of life in patients with ARM. The guided interview focused on analysis of sexual function. 55 adult patients with ARM (23 females, 32 males, median age 23 years, range from 18 to 56 years) were investigated via standardized case-report forms comprising interview, analysis of medical data and personal questionnaires. In the female patients, 8 (35 %) of them lived alone and 15 (65 %) had sexual intercourse. In the male patients, the majority of 20 (69 %) patients lived alone and 13 (45 %) had sexual intercourse. 6 of the females got pregnant, 5 got 2 or more children. 3 of the men induced 2 or more pregnancies and fathered children. Besides reconstructing the ARM, another main goal is the preservation of sexual function. According to our data, there seems to be a close relationship between psychosocial development and sexual activity.

  1. The MRI study of the sphincter muscle complex in congenital anorectal malformations

    International Nuclear Information System (INIS)

    Tang Shaotao; Mao Yongzhong; Wang Yong; Dong Ning; Ruan Qinglan; Peng Zhenjun; Kong Xiangquan; Liu Dingxi

    2007-01-01

    Objective: To evaluate the development of the sphincter muscle complex (SMC) and defecation function in pediatric patients with congenital anorectal malformations (ARM). Methods: A total of 64 children underwent MRI, among whom 39 were patients with ARM, and the others were patients without ARM undergoing MRI because of other dieases. The dimensions of the SMC in different planes were evaluated with different sequences and coils. The relationship between the SMC development and the defecation function was investigated. Results: In control group, the absolute value of SMC width was (3.63 ± 0.22)mm, which had a high correlation with age (r=0.998, P 0.05). The SMCs in intermediate ARM patients [muscle index (MI)=0.47 ± 0.05] and low ARM patients (MI=0.49 ± 0.05) were well developed. The SMCs in a portion of patients with high ARM (MI=0.28 ± 0.06) were poorly developed, when MI≤0.18, anorectal contraction pressure was significantly lower (t=3.55, P 0.18[(0.85 ± 0.20) vs (2.24 ± 1.02) kPa]. The length of anal canal with high-pressure[(10.88 ± 3.64) vs (20.26 ± 4.34)mm] was shorter (t= 5.18, P 0.18, the anorectal angle was less than 90 degrees, and normal continent function was found in 21 of 23 cases (91%). Conclusion: MRI can be employed to evaluate the development of SMC in patients with ARM, MI was an objective criteria to evaluate the development of SMC. When MI≤0.18, maldevelopment of SMC will be highly suspected. (authors)

  2. Congenital Anorectal Malformation Severity Does Not Predict Severity of Congenital Heart Defects

    NARCIS (Netherlands)

    Jonker, Jara E.; Liem, Eryn T.; Elzenga, Nynke J.; Molenbuur, Bouwe; Trzpis, Monika; Broens, Paul M. A.

    2016-01-01

    Objective To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening. Study design We included 129 patients with CARM born between 2004 and 2013, and

  3. Tethered cord in patients affected by anorectal malformations: a survey from the ARM-Net Consortium

    NARCIS (Netherlands)

    Fanjul, M.; Samuk, I.; Bagolan, P.; Leva, E.; Sloots, C.; Gine, C.; Aminoff, D.; Midrio, P.; Blaauw, I. de; Marcelis, C.L.M.; Rooij, I.A.L.M. van; Wester, T.; Zwink, N.

    2017-01-01

    PURPOSE: The goal of this study was to determine the degree of consensus in the management of spinal cord tethering (TC) in patients with anorectal malformation (ARM) in a large cohort of European pediatric centers. METHODS: A survey was sent to pediatric surgeons (one per center) members of the

  4. NMR imaging of the anal levator and sphincter muscles in anorectal malformations

    International Nuclear Information System (INIS)

    Aoyagi, Hiroshi; Takahashi, Hideyo; Maie, Masahiko; Ohnuma, Naomi; Etoh, Takao; Iwai, Jun

    1986-01-01

    Magnetic resonance imaging (MRI) of the anal levater and sphincter muscles was obtained on 4 normal volunteers and 11 patients with postoperative anorectal malformations (including 8 supra-levator type and 3 low type). Balloon catheter were inserted into the rectum and marked it as the center of a anal canal. Four normal subjects revealed the levater and sphincter muscles were thick and well developed in all sections (Sagittal, Transevse, Coronal). In most of the supra-levator type of anorectal malformations, thin levator and sphincter muscles were observed by Sagittal and Coronal scans. Transeverse scan revealed that the neorectum was not effectively pull-throughed into the puborectal muscle in one patient. Coronal scan showed the dameged external sphincter muscle. In three low types of anorectal malformations, the levator and the sphincter muscles were all well developed, but in one patient the external sphincter muscle existed at the posterior part of the anal canal. These observations were usefull in managing the postoperative care of anorectal malformations. (author)

  5. Predicting sexual problems in young adults with an anorectal malformation or Hirschsprung disease

    NARCIS (Netherlands)

    Witvliet, M.J.; Van Gasteren, S.; Van Den Hondel, D.; Hartman, E.E.; Van Heurn, L.W.E.; Van Der Steeg, A.F.W.

    2018-01-01

    AIM. The aim of this study was to examine the prevalence of sexual dysfunction and distress and to assess whether sexual functioning could be predicted by psychosocial factors in childhood and adolescence in patients with an anorectal malformation or Hirschsprung disease. MATERIAL AND METHODS. In

  6. Current management of anorectal malformation in Egypt: a survey of ...

    African Journals Online (AJOL)

    duplicate responses, yielding 82 survey charts for analysis. The 82 responses represent 74.5% of the 110 ... aDepartment of Pediatric Surgery, Qena University Hospital, Faculty of Medicine,. South Valley University, Qena and .... complex and improvement in rectal resting pressure and anorectal inhibitory reflex, which result ...

  7. 6-year-old girl with anorectal malformation: what is more important – anatomy or function?

    Directory of Open Access Journals (Sweden)

    Dmitry A. Morozov

    2018-02-01

    Full Text Available 6-year-old girl with first revealed anorectal malformation with perineal fistula was investigate. She did not have any complaints or history of constipation/soiling. Resting and squeeze anal pressure by anorectal manometry was normal. Recto-anal inhibitory reflex registered. There was no signs of dyssynergic defecation. The diameter of the colon by contrast enema was normal, megarectum did not detect, barium all came out after defecation. Muscles electro-identification confirmed external anal sphincter located posterior to the anus. After examination, council for Pediatric Surgery decided not to perform the surgery. Monitoring of the patient continued.

  8. The herbal medicine daikenchuto ameliorates an impaired anorectal motor activity in postoperative pediatric patients with an anorectal malformation--a pilot study.

    Science.gov (United States)

    Takagi, Akiko; Yagi, Minoru; Tanaka, Yoshiaki; Asagiri, Kimio; Asakawa, Takahiro; Tanaka, Hiroaki; Ishii, Shinji; Egami, Hideaki; Akaiwa, Masao; Tsuru, Tomomitsu

    2010-01-01

    Fecoflowmetry (FFM) has been introduced to simulate natural anorectal evacuation. So far, few reports have described the effect of the herbal medicine Daikenchuto (DKT) on impaired anorectal motor function. The aim of this pilot study was to assess anorectal motor function by FFM in postoperatively impaired patients with an anorectal malformation (ARM) before and after administration of DKT. Six postoperative patients with ARM (mean age, 7.8 years) who complained of intractable constipation with soiling in spite of administration of magnesia as a laxative were assessed over an extended period. These patients received 0.3 g/kg/d of DKT for an average of 128 days. Evacuative rate and maximum fecal stream flow were seen to increase significantly after administration of DKT when compared with values before administration of DKT. In conclusion, DKT had a favorable clinical effect on anorectal motor function in postoperative patients with ARM.

  9. Nonfluoroscopic pressure colostography in the evaluation of genitourinary fistula of anorectal malformations: experience in a resource-poor environment

    Energy Technology Data Exchange (ETDEWEB)

    Abdulkadir, Adekunle Yisau; Adesiyun, Olusola Morohunfade [University of Ilorin, Department of Radiology, Teaching Hospital, Ilorin, Kwara State (Nigeria); Abdur-Rahman, Lukman Olajide [University of Ilorin, Paediatric Surgery Unit, Teaching Hospital, Ilorin, Kwara State (Nigeria)

    2009-02-15

    Radiological imaging is paramount for defining the genitourinary fistulae commonly associated with anorectal malformations prior to definitive surgery. The imaging options are resource-limited in many parts of the world. Nonfluoroscopic pressure colostography after colostomy is a cheap method for the evaluation of anorectal malformations. To describe our experience with nonfluoroscopic pressure colostography in the evaluation of anorectal malformations in boys. The study included 12 boys with anorectal malformation who had colostomy and nonfluoroscopic pressure-augmented colostography with water-soluble contrast medium between January 2006 and December 2007. Patient ages ranged from 2 days to 1 year. The types of genitourinary fistula were rectovesical (7.7%) and rectourethral (92.3%). Oblique radiographs were of diagnostic value in all patients. The types of anorectal malformations were high, intermediate and low in 75%, 8.3% and 16.7%, respectively. Short-segment urethral constriction was a common feature of rectourethral fistula (75%, n=9). Our experience has shown that genitourinary fistulae associated with anorectal malformations can be demonstrated reliably by nonfluoroscopic pressure colostography with two oblique radiographs, providing an option in resource-poor settings where fluoroscopic equipment is scarce. (orig.)

  10. MRI of acquired posterior urethral diverticulum following surgery for anorectal malformations

    Energy Technology Data Exchange (ETDEWEB)

    Podberesky, Daniel J.; Anton, Christopher G. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Weaver, Nicholas C. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Vanderbilt University, Nashville, TN (United States); Lawal, Taiwo [Cincinnati Children' s Hospital Medical Center, Department of Surgery, Cincinnati, OH (United States); University College Hospital, Department of Surgery, Ibadan (Nigeria); Hamrick, Miller C.; Pena, Alberto; Levitt, Marc A. [Cincinnati Children' s Hospital Medical Center, Department of Surgery, Cincinnati, OH (United States); Alam, Shumyle [Cincinnati Children' s Hospital Medical Center, Department of Urology, Cincinnati, OH (United States)

    2011-09-15

    Posterior urethral diverticulum (PUD) is one of the most common postoperative complications associated with anorectal malformation (ARM) correction. To describe our MRI protocol for evaluating acquired PUD following ARM surgery, and associated imaging findings. Two radiologists retrospectively reviewed 61 pelvic MRI examinations performed for postoperative ARM for PUD identification and characteristics. Associated clinical, operative and cystoscopy reports were also reviewed and compared to MRI. An abnormal retrourethral focus suspicious for PUD was identified at MRI in 13 patients. Ten of these patients underwent subsequent surgery or cystoscopy, and PUD was confirmed in five. All of the confirmed PUD cases appeared as cystic lesions that were at least 1 cm in diameter in two imaging planes. Four of the false-positive cases were punctate retrourethral foci that were visible only on a single MRI plane. One patient had a seminal vesical cyst mimicking a PUD. Pelvic MRI can be a useful tool in the postoperative assessment of suspected PUD associated with ARM. Radiologists should have a high clinical suspicion for a postoperative PUD when a cystic lesion posterior to the bladder/posterior urethra is encountered on two imaging planes in these patients. (orig.)

  11. MRI of acquired posterior urethral diverticulum following surgery for anorectal malformations

    International Nuclear Information System (INIS)

    Podberesky, Daniel J.; Anton, Christopher G.; Weaver, Nicholas C.; Lawal, Taiwo; Hamrick, Miller C.; Pena, Alberto; Levitt, Marc A.; Alam, Shumyle

    2011-01-01

    Posterior urethral diverticulum (PUD) is one of the most common postoperative complications associated with anorectal malformation (ARM) correction. To describe our MRI protocol for evaluating acquired PUD following ARM surgery, and associated imaging findings. Two radiologists retrospectively reviewed 61 pelvic MRI examinations performed for postoperative ARM for PUD identification and characteristics. Associated clinical, operative and cystoscopy reports were also reviewed and compared to MRI. An abnormal retrourethral focus suspicious for PUD was identified at MRI in 13 patients. Ten of these patients underwent subsequent surgery or cystoscopy, and PUD was confirmed in five. All of the confirmed PUD cases appeared as cystic lesions that were at least 1 cm in diameter in two imaging planes. Four of the false-positive cases were punctate retrourethral foci that were visible only on a single MRI plane. One patient had a seminal vesical cyst mimicking a PUD. Pelvic MRI can be a useful tool in the postoperative assessment of suspected PUD associated with ARM. Radiologists should have a high clinical suspicion for a postoperative PUD when a cystic lesion posterior to the bladder/posterior urethra is encountered on two imaging planes in these patients. (orig.)

  12. PP-4 ANORECTAL MALFORMATIONS: MOTILITY STUDIES AND RESPONSE TO BIOFEEDBACK THERAPY.

    Science.gov (United States)

    Bigliardi, Roman N; Ditaranto, A; Reynoso, R; Vidal, J H; Messere, G; Toca, M; Silvestri, G; Ortiz, G; Noriega, S; Varela, A

    2015-10-01

    Anorectal malformations (ARM) are infrequent anatomic defects with a prevalence of 1 each 5000 alive newborns. Most of the patients repaired of this illness have some degree of constipation or fecal incontinence. There are few reports about manometric studies and biofeedback treatment in patients with anorectal malformations. To evaluate of our population's anorectal functionality late after surgery by anorectal manometry; To study the response to diet, toilet training, and/or biofeedback. Anorectal manometry was done in 39 patients with ARM and 35 of them received combinated treatment of diet, toilet training and biofeedback. Age: 6 to 17 years old. Mean age: 8.05 years. Descriptive study. From april 2004 to april 2015. 14 patients had high malformations(36%), 18 had low malformations(46%) and 7 had cloaca(18%). children over 6 years of age with anorectal malformation operated using Peña's technique (postsagittal anorectoplasty). patients with neurological disorders that do not non-compliant with study and treatment indications. Average resting pressure was 28 mmHg(High level 25,5 and Low level 29,8 mmHg), range between 7 and 51 mmHg. Squeezing pressure between 29 and 120 mmHg(mean:69mmHg). Combined treatment of diet, toilet training, and biofeedback was succesfull to get total continence in 22 patients (4 cloacas, 10 high malformations and 8 low malformations), partial continence in 6(all low) and without response in 3(1 low, 1 high and 1 cloaca); 2 patients archived continence only with toilet training and 2 were lost in follow up(T.Fisher: 0,1). In high ARM 8 had positive(+) rectoanal inhibitory reflex(RAIR) and 6 negative(¬). In cloacas it was (+) in 3, (¬) in 3 and doubtful in 1. In low ARM 15(+), 2 (¬) and 1 doubtful. Reflex was obtained with 20 to 60cc of air(mean 31,36). The RRAI duration was 10 to 17 seconds(mean: 13 seconds).From 22 total continent, RAIR was (+) in 13, (¬) in 7 and hazardous in 2. All 6 partially continent had (+) RAIR; and from 3

  13. Manometric findings in relation to functional outcomes in different types of anorectal malformations.

    Science.gov (United States)

    Kyrklund, Kristiina; Pakarinen, Mikko P; Rintala, Risto J

    2017-04-01

    To compare anorectal manometry (AM) in patients with different types of anorectal malformations (ARMs) in relation to functional outcomes. A single-institution, cross-sectional study. After ethical approval, all patients ≥7years old treated for anterior anus (AA), perineal fistula (PF), vestibular fistula (VF), or rectourethral fistula (RUF) from 1983 onwards were invited to answer the Rintala bowel function score (BFS) questionnaire and to attend anorectal manometry (AM). Patients with mild ARMs (AA females and PF males) had been treated with minimally invasive perineal procedures. Females with VF/PF and males with RUF had undergone internal-sphincter saving sagittal repairs. 55 of 132 respondents (42%; median age 12 (7-29) years; 42% male) underwent AM. Patients with mild ARMs displayed good anorectal function after minimally invasive treatments. The median anal resting and squeeze pressures among patients with mild ARMs (60 cm H2O and 116 cm H2O respectively) were significantly higher than among patients with more severe ARMs (50 cm H2O, and 80cm H2O respectively; p≤0.002). The rectoanal inhibitory reflex was preserved in 100% of mild ARMs and 83% of patients with more severe malformations after IAS-saving sagittal repair. The functional outcome was poor in 4/5 patients with an absent RAIR (BFS≤11 or antegrade continence enema-dependence). Rectal sensation correlated significantly with the BFS. Our findings support the appropriateness of our minimally invasive approaches to the management of mild ARMs, and IAS-saving anatomical repairs for patients with more severe malformations. III. Copyright © 2017 Elsevier Inc. All rights reserved.

  14. Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance.

    Science.gov (United States)

    Dworschak, Gabriel C; Zwink, Nadine; Schmiedeke, Eberhard; Mortazawi, Kiarasch; Märzheuser, Stefanie; Reinshagen, Konrad; Leonhardt, Johannes; Gómez, Barbara; Volk, Patrick; Rißmann, Anke; Jenetzky, Ekkehart; Reutter, Heiko

    2017-12-13

    Anorectal malformations (ARM) are rare abnormalities that occur in approximately 1 in 3000 live births with around 40% of patients presenting with isolated forms. Multiple familial cases reported, suggest underlying genetic factors that remain largely unknown. The recurrence in relatives is considered rare, however transmission rates of ARM by affected parents have never been determined before. The inheritance pattern of ARM was investigated in our database of patients with isolated ARM. Within our cohort of 327 patients with isolated ARM we identified eight adult patients from eight families who had in total 16 children with their healthy spouse. Of these ten had ARM, resulting in a recurrence risk of approximately one in two live births (10 of 16; 62%). From 226 families with 459 siblings we found two affected siblings in five families. Hence, the recurrence risk of ARM among siblings is approximately one in 92 live births (5 of 459; 1.0%). Comparing the observed recurrence risk in our cohort with the prevalence in the general population, we see a 1500-fold increase in recurrence risk for offspring and a 32-fold increase if a sibling is affected. The recurrence risk of approximately 62% indicates an autosomal dominant mode of inheritance. Reliable figures on recurrence of ARM are becoming increasingly important since improved surgical techniques are able to maintain sexual function resulting in more offspring of patients with ARM. These data allow more precise counseling of families with ARM and support the need for genetic studies.

  15. MRI findings in patients with defecatory dysfunction after surgical correction of anorectal malformation

    International Nuclear Information System (INIS)

    Cui, Yong; Shao, Guang-rui; Wang, Ruo-yi; Zhang, Yuan; Zhang, Shu-hui

    2013-01-01

    Postoperative anorectal malformation patients frequently have defecatory dysfunction. MRI may be useful in the management of these patients. To analyze static and dynamic MRI findings in patients with defecatory dysfunction after correction of anorectal malformation (ARM), and compare differences between patients with constipation and fecal incontinence. Pelvic MRI studies of 20 constipated and 32 incontinent postoperative ARM patients were analyzed retrospectively to determine the location and morphology of the neorectum, presence of peritoneal fat herniation, presence of scarring, development of the striated muscle complex (SMC) and any other abnormalities. The two groups were then compared using χ 2 -test. Eighteen patients also underwent MRI defecography to evaluate pelvic floor function and abnormalities are reported. The children with incontinence were more likely to have abnormal location of the neorectum (P = 0.031), increased anorectal angle (ARA) (P = 0.031) and peritoneal fat herniation (P = 0.032), and less likely to have dilation of the neorectum (P = 0.027), than the children with constipation. There were no significant differences between the two groups in incidence of focal stenosis of the neorectum (P = 0.797), presence of extensive scarring (P = 0.591) and developmental agenesis of the SMC (P > 0.05). MRI defecography showed 6 anterior rectoceles, 6 cystoceles and 18 pelvic floor descents. MRI is a helpful imaging modality in postoperative ARM patients with defecatory dysfunction, and it shows distinct differences between the children with constipation and incontinence and provides individualized information to guide further treatment. (orig.)

  16. MRI findings in patients with defecatory dysfunction after surgical correction of anorectal malformation

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    Cui, Yong; Shao, Guang-rui [Second Hospital of Shandong University, Department of Radiology, Jinan (China); Wang, Ruo-yi [Second Hospital of Shandong University, Department of Pediatric Surgery, Jinan (China); Zhang, Yuan [Second Hospital of Shandong University, Evidence-based Medical Center, Jinan (China); Zhang, Shu-hui [Second Hospital of Shandong University, Department of Laboratory, Jinan (China)

    2013-08-15

    Postoperative anorectal malformation patients frequently have defecatory dysfunction. MRI may be useful in the management of these patients. To analyze static and dynamic MRI findings in patients with defecatory dysfunction after correction of anorectal malformation (ARM), and compare differences between patients with constipation and fecal incontinence. Pelvic MRI studies of 20 constipated and 32 incontinent postoperative ARM patients were analyzed retrospectively to determine the location and morphology of the neorectum, presence of peritoneal fat herniation, presence of scarring, development of the striated muscle complex (SMC) and any other abnormalities. The two groups were then compared using {chi} {sup 2}-test. Eighteen patients also underwent MRI defecography to evaluate pelvic floor function and abnormalities are reported. The children with incontinence were more likely to have abnormal location of the neorectum (P = 0.031), increased anorectal angle (ARA) (P = 0.031) and peritoneal fat herniation (P = 0.032), and less likely to have dilation of the neorectum (P = 0.027), than the children with constipation. There were no significant differences between the two groups in incidence of focal stenosis of the neorectum (P = 0.797), presence of extensive scarring (P = 0.591) and developmental agenesis of the SMC (P > 0.05). MRI defecography showed 6 anterior rectoceles, 6 cystoceles and 18 pelvic floor descents. MRI is a helpful imaging modality in postoperative ARM patients with defecatory dysfunction, and it shows distinct differences between the children with constipation and incontinence and provides individualized information to guide further treatment. (orig.)

  17. Management of anorectal malformation: Changing trend over two decades in Zaria, Nigeria

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    Lukong C

    2011-01-01

    Full Text Available Background: Anorectal malformation is a common congenital defect and its management has evolved over the years. This is a review of the trend in the management of this condition in a major paediatric surgical centre in Nigeria over two decades. Materials and Methods: A retrospective analysis of 295 patients with anorectal malformations managed from January 1988 to December 2007 was carried out. Results: There were 188 boys and 107 girls aged 1 day-9 years (median 8 years at presentation. There were 73 (54.5% and 106 (65.8% emergency operations in groups A and B, respectively. There were 61 (45.5% and 55 (34.2% elective operations in groups A and B, respectively. Regarding treatment, in group A, patients requiring colostomy had transverse loop colostomy, while in group B, sigmoid (usually divided colostomy was preferred. The definitive surgery done during the two periods were: group A: cutback anoplasty 29 (47.5%, anal transplant 5 (8.2%, sacroabdominoperineal pullthrough (Stephen′s operation 6 (9.5% and others 21 (34.4%. In group B, posterior sagittal anorectoplasty (PSARP 46 (83.7%, anal transplant 1 (1.8%, posterior sagittal anorectovaginourethroplasty (PSARVUP 2 (3.6% and anal dilatation 6 (10.9% were done. Early colostomy-related complication rates were similar in the two groups (P > 0.05. The overall late complication rate was 65.5% in group A and 16.4% in group B (P < 0.05. The mortality was 25 (18.6% in group A compared to 17 (10.6% in group B (P < 0.05. Conclusion: There have been significant changes in the management of anorectal malformations in this centre in the last two decades, resulting in improved outcomes.

  18. A review of genetic factors contributing to the etiopathogenesis of anorectal malformations.

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    Khanna, Kashish; Sharma, Shilpa; Pabalan, Noel; Singh, Neetu; Gupta, D K

    2018-01-01

    Anorectal malformation (ARM) is a common congenital anomaly with a wide clinical spectrum. Recently, many genetic and molecular studies have been conducted worldwide highlighting the contribution of genetic factors in its etiology. We summarize the current literature on such genetic factors. Literature search was done using different combinations of terms related to genetics in anorectal malformations. From 2012 to June 2017, articles published in the English literature and studies conducted on human population were included. A paradigm shift was observed from the earlier studies concentrating on genetic aberrations in specific pathways to genome wide arrays exploring single nucleotide polymorphisms (SNPs) and copy number variations (CNVs) in ARM patients. Rare CNVs (including 79 genes) and SNPs have been found to genetically contribute to ARM. Out of disrupted 79 genes one such putative gene is DKK4. Down regulation of CDX-1 gene has also been implicated in isolated ARM patients. In syndromic ARM de novo microdeletion at 17q12 and a few others have been identified. Major genetic aberrations proposed in the pathogenesis of ARM affect members of the Wnt, Hox (homebox) genes, Sonic hedgehog (Shh) and Gli2, Bmp4, Fgf and CDX1 signalling pathways; probable targets of future molecular gene therapy.

  19. High resolution MRI for preoperative work-up of neonates with an anorectal malformation: a direct comparison with distal pressure colostography/fistulography

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    Thomeer, Maarten G. [Erasmus MC, Department of Radiology, Rotterdam (Netherlands); Devos, Annick; Lequin, Maarten; Graaf, Nanko de; Meradji, Morteza [Erasmus MC, Department of Pediatric Radiology, Rotterdam (Netherlands); Meeussen, Conny J.H.M.; Blaauw, Ivo de; Sloots, Cornelius E.J. [Erasmus MC, Department of Pediatric Surgery, Rotterdam (Netherlands)

    2015-12-15

    To compare MRI and colostography/fistulography in neonates with anorectal malformations (ARM), using surgery as reference standard. Thirty-three neonates (22 boys) with ARM were included. All patients underwent both preoperative high-resolution MRI (without sedation or contrast instillation) and colostography/fistulography. The Krickenbeck classification was used to classify anorectal malformations, and the level of the rectal ending in relation to the levator muscle was evaluated. Subjects included nine patients with a bulbar recto-urethral fistula, six with a prostatic recto-urethral fistula, five with a vestibular fistula, five with a cloacal malformation, four without fistula, one with a H-type fistula, one with anal stenosis, one with a rectoperineal fistula and one with a bladderneck fistula. MRI and colostography/fistulography predicted anatomy in 88 % (29/33) and 61 % (20/33) of cases, respectively (p = 0.012). The distal end of the rectal pouch was correctly predicted in 88 % (29/33) and 67 % (22/33) of cases, respectively (p = 0.065). The length of the common channel in cloacal malformation was predicted with MRI in all (100 %, 5/5) and in 80 % of cases (4/5) with colostography/fistulography. Two bowel perforations occurred during colostography/fistulography. MRI provides the most accurate evaluation of ARM and should be considered a serious alternative to colostography/fistulography during preoperative work-up. (orig.)

  20. Prospective long-term follow up of children with anorectal malformation: growth and development until 5years of age.

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    van den Hondel, Desiree; Sloots, Cornelius E J; Gischler, Saskia J; Meeussen, Conny J H M; Wijnen, Rene M H; IJsselstijn, Hanneke

    2013-04-01

    To evaluate growth and development in children with anorectal malformations and to analyze effects of type of malformation and comorbidities. Non-syndromal children with anorectal malformations were prospectively evaluated at 0.5, 1, 2, and 5 years. Biometrics were obtained at all visits. Mental and psychomotor function development was determined. 108 children (59% male) were included. 49% had a high malformation, and 46% had ≥ 1 additional major comorbidity. All growth parameters were below the norm at all ages (pChildren with ≥ 1 additional major anomaly had lower height at all ages; at 5 years, mean (95% CI) height was -1.83 (-2.7 to -1.1) and -0.70 (-1.3 to -0.1) in children with and without comorbidities, respectively (p=0.019). Mental development was normal, irrespective of the type of malformation or comorbidities. Motor development was delayed at all ages. At 5 years, motor development (n=30) was normal in 70%, borderline in 23%, and 7% had definitive motor problems (p=0.043). Non-syndromal children with anorectal malformations are at risk for growth impairment, especially those with additional major comorbidity. Mental development is normal. Motor development is slightly impaired. Supportive care should focus on growth, dietary management, and motor development besides defecation problems. Copyright © 2013 Elsevier Inc. All rights reserved.

  1. Anterior or posterior sagittal anorectoplasty without colostomy for low-type anorectal malformation: how to get a better outcome?

    NARCIS (Netherlands)

    Kuijper, Caroline F.; Aronson, Daniel C.

    2010-01-01

    Background/Purpose: Usually, anorectal malformations (ARM) are treated in 2 or 3 stages for fear of disturbed wound healing and subsequent damage to the anal sphincter complex. The aim of this study was to assess the feasibility, safety, advantages, and follow-up of an anterior or posterior sagittal

  2. Anterior or posterior sagittal anorectoplasty without colostomy for low-type anorectal malformation: how to get a better outcome?

    NARCIS (Netherlands)

    Kuijper, C.F.; Aronson, D.C.

    2010-01-01

    BACKGROUND/PURPOSE: Usually, anorectal malformations (ARM) are treated in 2 or 3 stages for fear of disturbed wound healing and subsequent damage to the anal sphincter complex. The aim of this study was to assess the feasibility, safety, advantages, and follow-up of an anterior or posterior sagittal

  3. Quality of life in patients with anorectal malformation or Hirschsprung's disease: development of a disease-specific questionnaire

    NARCIS (Netherlands)

    Hanneman, M. J.; Sprangers, M. A.; de Mik, E. L.; Ernest van Heurn, L. W.; de Langen, Z. J.; Looyaard, N.; Madern, G. C.; Rieu, P. N.; van der Zee, D. C.; van Silfhout, M.; Aronson, D. C.

    2001-01-01

    PURPOSE: Hirschsprung's disease and anorectal malformation are congenital diseases of the digestive tract with sequelae into adulthood. The quality of life of patients with these diseases is largely unknown. The aim of the study was 1) to construct a self-report disease-specific instrument to assess

  4. Two-stage laparoscopic approaches for high anorectal malformation: transumbilical colostomy and anorectoplasty.

    Science.gov (United States)

    Yang, Li; Tang, Shao-Tao; Li, Shuai; Aubdoollah, T H; Cao, Guo-Qing; Lei, Hai-Yan; Wang, Xin-Xing

    2014-11-01

    Trans-umbilical colostomy (TUC) has been previously created in patients with Hirschsprung's disease and intermediate anorectal malformation (ARM), but not in patients with high-ARM. The purposes of this study were to assess the feasibility, safety, complications and cosmetic results of TUC in a divided fashion, and subsequently stoma closure and laparoscopic assisted anorectoplasty (LAARP) were simultaneously completed by using the colostomy site for a laparoscopic port in high-ARM patients. Twenty male patients with high-ARMs were chosen for this two-stage procedure. The first-stage consisted of creating the TUC in double-barreled fashion colostomy with a high chimney at the umbilicus, and the loop was divided at the same time, in such a way that the two diverting ends were located at the umbilical incision with the distal end half closed and slightly higher than proximal end. In the second-stage, 3 to 7 months later, the stoma was closed through a peristomal skin incision followed by end-to-end anastomosis and simultaneously LAARP was performed by placing a laparoscopic port at the umbilicus, which was previously the colonostomy site. Umbilical wound closure was performed in a semi-opened fashion to create a deep umbilicus. TUC and LAARP were successfully performed in 20 patients. Four cases with bladder neck fistulas and 16 cases with prostatic urethra fistulas were found. Postoperative complications were rectal mucosal prolapsed in three cases, anal stricture in two cases and wound dehiscence in one case. Neither umbilical ring narrowing, parastomal hernia nor obstructive symptoms was observed. Neither umbilical nor perineal wound infection was observed. Stoma care was easily carried-out by attaching stoma bag. Healing of umbilical wounds after the second-stage was excellent. Early functional stooling outcome were satisfactory. The umbilicus may be an alternative stoma site for double-barreled colostomy in high-ARM patients. The two-stage laparoscopic

  5. [Research progress in genetic abnormalities and etiological factors of congenital anorectal malformation].

    Science.gov (United States)

    Zhang, Yanli; Ren, Hongxia

    2016-01-01

    Congenital anorectal malformation (ARM) is one of the most common gastrointestinal congenital diseases, accounting for 1/4 in digestive tract malformation, and is one of the congenital malformations in routine surveillance by the World Health Organization. Because of the variety of risk factors and the complexity of the pathological changes, etiology of ARM is still not clear. It is mostly considered that ARM is resulted from hereditary factors and environmental factors in the development of embryogenesis. Through animal experiments, scholars have found that Hox, Shh, Fgf, Wnt, Cdx and TCF4, Eph and ephrin play crucial role during the development of digestive tract. When the genes/signaling pathway dysfunction occurs, ARM may happen. In addition, ARM is related to the external factors in pregnancy. Because of the complexity of related factors in the development of human embryogenesis, the research progress of human ARM is very slow. This paper reviews relevant literatures in genetic factors and environmental factors, in order to provide the theoretical basis for the treatment and prevention of ARM.

  6. Parental risk factors and anorectal malformations: systematic review and meta-analysis

    Directory of Open Access Journals (Sweden)

    Zwink Nadine

    2011-05-01

    Full Text Available Abstract Background Anorectal malformations (ARM are rare forms of congenital uro-rectal anomalies with largely unknown causes. Besides genetic factors, prenatal exposures of the parents to nicotine, alcohol, caffeine, illicit drugs, occupational hazards, overweight/obesity and diabetes mellitus are suspected as environmental risk factors. Methods Relevant studies published until August 2010 were identified through systematic search in PubMed, EMBASE, ISI Web of Knowledge and the Cochrane Library databases. Furthermore, related and cross-referencing publications were reviewed. Pooled odds ratios (95% confidence intervals were determined to quantify associations of maternal and paternal smoking, maternal alcohol consumption, underweight (body mass index [BMI] Results 22 studies that reported on the association between prenatal environmental risk factors and infants born with ARM were included in this review. These were conducted in the United States of America (n = 12, Spain (n = 2, Sweden (n = 2, the Netherlands (n = 2, Japan (n = 1, France (n = 1, Germany (n = 1 and Hungary (n = 1. However, only few of these studies reported on the same risk factors. Studies were heterogeneous with respect to case numbers, control types and adjustment for covariates. Consistently increased risks were observed for paternal smoking and maternal overweight, obesity and diabetes, but not for maternal smoking and alcohol consumption. In meta-analyses, pooled odds ratios (95% confidence intervals for paternal smoking, maternal overweight, obesity, pre-gestational and gestational diabetes were 1.53 (1.04-2.26, 1.25 (1.07-1.47, 1.64 (1.35-2.00, 4.51 (2.55-7.97 and 1.81 (1.23-2.65, respectively. Conclusion Evidence on risk factors for ARM from epidemiological studies is still very limited. Nevertheless, the few available studies indicate paternal smoking and maternal overweight, obesity and diabetes to be associated with increased risks. Further, ideally large

  7. Neonatal posterior sagittal anorectoplasty for a subset of males with high anorectal malformations

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    Nilesh G Nagdeve

    2011-01-01

    Full Text Available Aim: To assess the results of primary posterior sagittal anorectoplasty (PSARP in male neonates with high anorectal malformations (ARM who on invertogram showed well descended rectum. Materials and Methods: Twelve full-term male neonates with high ARM over a period of one and half years were selected for primary PSARP based on the findings of invertogram. Primary PSARP was performed in all neonates with lower limit of rectal gas bubble at or below the ossified fifth sacral vertebra. The patients were followed-up for a period between three to four and half years. The clinical evaluation of fecal continence was performed using Pena′s criteria for assessment of continence. Results: All neonates underwent PSARP on second to fourth postnatal day. The fistula with urinary tract was found in 11 patients (seven had fistula to bulbar urethra and four to prostatic urethra. Rectal tapering was not required in any neonate. No patient had urinary problems after removal of catheter. Most of the neonates were discharged by ninth day. Postoperatively, two patients had superficial wound infection of anoplasty without any disruption or bowel retraction. Two patients had severe perianal excoriation. No patient had anorectal stenosis. Nine of twelve patients on follow-up had good voluntary bowel movements. Of the three patients who had grade I soiling two had recto-prostatic urethral fistula. No patient had constipation. All patients had good urinary stream. Conclusions: Repair of high ARM in male neonates with a well descended rectum is feasible without significant morbidity and good continence.

  8. Effectiveness of senna vs polyethylene glycol as laxative therapy in children with constipation related to anorectal malformation.

    Science.gov (United States)

    Santos-Jasso, Karla Alejandra; Arredondo-García, José Luis; Maza-Vallejos, Jorge; Lezama-Del Valle, Pablo

    2017-01-01

    Constipation is present in 80% of children with corrected anorectal malformations, usually associated to rectal dilation and hypomotility. Osmotic laxatives are routinely used for idiopathic constipation. Senna is a stimulant laxative that produces contractions improving colonic motility without affecting the stool consistency. We designed this trial to study the effectiveness of Senna versus polyethylene glycol for the treatment of constipation in children with anorectal malformation. A randomized controlled crossover design clinical trial, including a washout period, was conducted, including children with corrected anorectal malformations with fecal continence and constipation. The sample size was calculated for proportions (n=28) according to available data for Senna. Effectiveness of laxative therapy was measured with a three variable construct: 1) daily bowel movement, 2) fecal soiling, 3) a "clean" abdominal x-ray. Data analysis included descriptive statistics and a Fisher's exact test for the outcome variable (effectiveness). The study was terminated early because the interim analysis showed a clear benefit toward Senna (p = 0.026). The sample showed a normal statistical distribution for the variables age and presence of megarectum. The maximum daily dose of Senna (sennosides A and B) was 38.7mg and 17g for polyethylene glycol. No adverse effects were identified. Therapy with Senna should be the laxative treatment of choice as part of a bowel management program in children with repaired anorectal malformations and constipation, since the stimulation of colonic propulsion waves could lead to stool evacuation without modification of its consistency which can affect fecal continence. I - randomized controlled trial with adequate statistical power. Copyright © 2017 Elsevier Inc. All rights reserved.

  9. To split or not to split: colostomy complications for anorectal malformations or hirschsprung disease: a single center experience and a systematic review of the literature.

    Science.gov (United States)

    van den Hondel, Desiree; Sloots, Cornelius; Meeussen, Conny; Wijnen, Rene

    2014-02-01

    The aim of this article is to identify the ideal type and location of colostomy in children with colorectal disease. A retrospective case study of children with an anorectal malformation who received a colostomy, born between January 1990 and July 2012. Furthermore, a systematic literature search on colostomies in neonates with an anorectal malformation or Hirschsprung disease. Colostomies were classified as loop or split colostomies in the transverse or sigmoid colon. Outcome measures were mortality and complications such as prolapse, technical difficulties with the reconstruction, urinary tract infections, and others. The mortality rate in the 180 children with anorectal malformation was 6%, and none of them were directly related to stoma formation or closure. The overall complication rate was 23% and the specific rates for the two types of procedures and the two locations of the colostomy did not differ (p = 0.389 and p = 0.667, respectively). All prolapses (n = 22) occurred in loop colostomies in the transverse colon. One colostomy required revision because of insufficient length for the reconstruction. Urinary tract infections were not documented. A total of eight studies were included in the systematic review (1982-2011; 2,954 patients). Mortality ranged between 0.1 and 11%. Loop colostomies had more complications than split colostomies (63 vs. 45%; p = 0.007), mainly prolapse (18 vs. 6%; p colostomies (62 vs. 51%, p = 0.006), and prolapse occurred more often in the transverse colon (23 vs. 7%; p colostomies, whereas the other showed frequent episodes of urinary tract infections in 64% of the loop colostomies. The complication to be avoided in transverse colostomies is prolapse and the surgical technique should be modified accordingly. The procedure of split sigmoid colostomy is meticulous, and the risk of insufficient length for the reconstruction remains. Georg Thieme Verlag KG Stuttgart · New York.

  10. Comparison of trans-perineal ultrasound-guided pressure augmented saline colostomy distension study and conventional contrast radiographic colostography in children with anorectal malformation.

    Science.gov (United States)

    Ekwunife, Okechukwu Hyginus; Umeh, Eric Okechukwu; Ugwu, Jideofor Okechukwu; Ebubedike, Uzoamaka Rufina; Okoli, Chinedu Christian; Modekwe, Victor Ifeanyichukwu; Elendu, Kelechi Collins

    2016-01-01

    In children with high and intermediate anorectal malformation, distal colostography is an important investigation done to determine the relationship between the position of the rectal pouch and the probable site of the neo-anus as well as the presence or absence of a fistula. Conventionally, this is done using contrast with fluoroscopy or still X-ray imaging. This, however, has the challenges of irradiation, availability and affordability, especially in developing countries. This study compared the accuracy of trans-perineal ultrasound-guided pressure augmented saline colostomy distension study (SCDS) with conventional contrast distal colostography (CCDC) in the determination of the precise location of the distal rectal pouch and in detecting the presence and site of fistulous communication between the rectum and the urogenital tract was studied. Trans-perineal ultrasound-guided pressure augmented SCDS, CCDC and intra-operative measurements were done sequentially for qualified infants with anorectal malformation and colostomy. Pouch skin distance and presence or absence of recto urinary or genital fistula was measured prospectively in each case. Statistical significance was inferred at P-value of 0.01. On its ability to detect presence or absence of a fistula: SCDS had a sensitivity of 50.0%, specificity of 100.0%, accuracy of 69.2%, negative predictive value of fistulas of 55.6% and a positive predictive value of fistulas of 100.0%. Ultrasound-guided pressure augmented SCDS can safely and reliably be used to assess the distal colonic anatomy and the presence of fistula in infants with Anorectal malformation who are on colostomy.

  11. Congenital Anorectal Malformation Severity Does Not Predict Severity of Congenital Heart Defects.

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    Jonker, Jara E; Liem, Eryn T; Elzenga, Nynke J; Molenbuur, Bouwe; Trzpis, Monika; Broens, Paul M A

    2016-12-01

    To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening. We included 129 patients with CARM born between 2004 and 2013, and referred to University Medical Center Groningen. Recto-perineal and recto-vestibular fistulas were classified as mild CARMs, all others as severe. Significant patent foramen ovale, secundum atrial septal defect, and small ventricular septum defect were classified as minor CHDs, all others as major. Of 129 patients with CARM, 67% had mild CARM, 33% severe CARM, and 17% were additionally diagnosed with CHD. CHDs were distributed equally in patients with mild or severe CARMs. Patients with multiple congenital abnormalities were more frequently diagnosed with CHD (n = 16, 36%) than patients without multiple congenital malformations (n = 5, 9%, P = .001). Patients with CARM diagnosed with CHD using pediatric cardiac echo screening were younger than 3 months of age at diagnosis. Earlier general pediatric examinations missed 7 (50%) children with mild and 4 (50%) with severe CHDs. The severity of CARM could predict neither prevalence nor severity of CHD. More than one-half of CHDs were missed during the first physical examination. No new CHDs were found in patients older than 3 months of age at the time CARMs were diagnosed. We recommend screening all patients with CARM younger than 3 months of age for CHD at the time CARM is diagnosed. Preoperative echocardiography should be the rule in children younger than 3 months of age and with multiple congenital anomalies. Copyright © 2016 Elsevier Inc. All rights reserved.

  12. Effectiveness of the bowel management program in children with constipation secondary to anorectal malformations

    Directory of Open Access Journals (Sweden)

    Santos Jasso Karla A.

    2014-07-01

    Full Text Available Introduction: One thousand children with anorectal malformation (ARM are born in Mexico every year. In spite of surgical correction, these children continue to present functional fecal problems (constipation and fecal incontinence. We conducted an Intestinal Rehabilitation Program (IRP which consists of an initial rectal disimpaction followed by administration of stimulant-type laxative (senna, with favorable results. The objective of this paper is to describe the effectiveness of the Intestinal Rehabilitation Program/bowel management program (IRP/BMP in children with constipation secondary to surgically corrected ARM. Materials and methods: A descriptive, retrospective, cross-sectional study, describing which was the IRP effectiveness in children with constipation secondary to ARM. The effectiveness was measured by means of a construct of three variables (presence of daily bowel movements, absence of fecal staining, and having a plain abdominal radiograph without fecal residue in left colon and rectum after passing stool. All children who had surgically corrected ARM and constipation in two referral centers were included. Results. One hundred and fifty one children with ARM were included: 21.85% had fecal incontinence, and 67.33% had constipation. Of this group 88.1% showed good response to the BMP. The mean dose of sennoside was 8.45 mg/kg, 95% CI: 5.94-11.12 mg/kg (199.5 mg total dose, 95% CI: 139.50-259.50 mg. Colicky abdominal pain occurred in 5.8% of the patients. Discussion. The use of sennoside has had a positive impact on our patients by means of colonic and rectal emptying without fecal soiling. Key words: Constipation, Anorrectal Malformation, Bowel Managment Program, Sennoside.

  13. The morbidity of a divided stoma compared to a loop colostomy in patients with anorectal malformation.

    Science.gov (United States)

    Liechty, Shawn T; Barnhart, Douglas C; Huber, Jordan T; Zobell, Sarah; Rollins, Michael D

    2016-01-01

    Loop colostomies may contaminate the genitourinary (GU) tract in patients with anorectal malformations (ARM) owing to incomplete diversion of stool. Stoma complications are also thought to be higher with a loop versus divided colostomy. We sought to compare the morbidity, including urinary tract infections (UTI), in these two types of colostomies in children with ARM. A review was performed at a children's hospital (1989-2014). Children with ARM who had a colostomy performed were identified. Demographic data and outcome variables were collected. Analyses included Student's t-test, Fischer's exact and logistic regression as appropriate. 171 patients were identified (loop=78; divided=93). Thirty percent of patients with a divided colostomy and 24% with a loop experienced a stoma complication (p=0.5). A subgroup analysis of children with a rectourinary fistula (54 divided, 26 loop) was performed to assess for effect of colostomy type on UTI. After controlling for other UTI risk factors (major GU anomalies, vesicostomy, and prophylactic antibiotics), loop ostomies were not associated with risk of UTI (OR 0.83, 95% CI 0.27-2.63). No patient with a loop colostomy developed megarectum. Children with ARM who undergo a loop colostomy are not at a detectable increased risk of experiencing a UTI compared to a divided stoma. The rate of stoma complication is high regardless of the type of stoma created. Copyright © 2016 Elsevier Inc. All rights reserved.

  14. Outcome of loop versus divided colostomy in the management of anorectal malformations.

    Science.gov (United States)

    Almosallam, Osama Ibrahim; Aseeri, Ali; Shanafey, Saud Al

    2016-01-01

    Colostomy is a common part of the management of high anorectal malformation (ARM) in the pediatric population. To evaluate whether the type of colostomy (loop vs divided) has an impact on outcome in patients with ARM. A retrospective study. King Faisal Specialist Hospital and Research Center, a tertiary care center. All patients who were managed with colostomy for ARM and had definitive repair during the period of January 2000 to December 2014. Outcomes relative to the type of the colostomy were compared. Morbidities associated with each type of colostomy. There were 104 patients managed for ARM with colostomy as staged procedures, 63 males and 41 females. Patients had a colostomy at a median age of 6 days and were closed at a median of 11 months. Definitive repair was at a median age of 17 months. Type of fistula was 8 perineal, 21 rectovestibular, 35 rectourethral, 11 rectovesical and there were 16 without fistula and 13 cloaca anomalies. There were 55 loop and 49 divided colostomies. There were 91 descending/sigmoid and 13 transverse colostomies. Operative time for loop colostomy closure was shorter than with divided colo6stomy (76 minutes vs 94 minutes, P=.002). Three patients among the divided group had reversed orientation of the colostomy that had affected bowel preparations negatively prior to its repair. There was no differences in complications of creation and closure of loop and divided colostomies except in occurrence of skin excoriation. There was more skin excoriation with divided colostomy compared to loop colostomy (17 vs 10, P=.04). Loop colostomy has a shorter closure operative time and relatively fewer complications compared to the divided colostomy. Our data suggests that loop colostomy may be more favorable than divided colostomy for ARM patients. Retrospective nature of the study and some colostomies performed at other hospitals.

  15. New concepts in preoperative imaging of anorectal malformation. New concepts in imaging of ARM

    Energy Technology Data Exchange (ETDEWEB)

    Taccone, A.; Delliacqua, A.; Marzoli, A. (Children' s Hospital G. Gaslini, Genoa (Italy). Dept. of Radiology); Martucciello, G.; Jasonni, V. (Children' s Hospital G. Gaslini, Genoa (Italy). Dept. of Pediatric Surgery); Dodero, P. (Children' s Hospital G. Gaslini, Genoa (Italy). Dept. of Intensive Care Unit); Salomone, G. (Children' s Hospital G. Gaslini, Genoa (Italy). Surgical Emergency Unit)

    1992-06-01

    In this study of 14 patients with anorectal anomalies CT and MRI were employed for preoperative assessment. The use of a pressure enhanced water soluble enema via the colostomy proved to be an extremely efficient method for showing a fistula. MRI studies were enhanced by the use of vaseline oil and in one case this technique was used prior to surgery to provide important information by injecting through a perineal fistula. CT and axial MRI proved to be more valuable than sagittal MRI which is only useful for the length of the atretic segment. The authors consider that a combined approach using pressure enhanced water soluble enema and MRI will provide the most valuable preoperative information to plan a successful operative approach and enable an accurate prognostic evaluation of continence in these difficult and complex patients. (orig.).

  16. Comparison of environmental risk factors for esophageal atresia, anorectal malformations, and the combined phenotype in 263 German families.

    Science.gov (United States)

    Zwink, N; Choinitzki, V; Baudisch, F; Hölscher, A; Boemers, T M; Turial, S; Kurz, R; Heydweiller, A; Keppler, K; Müller, A; Bagci, S; Pauly, M; Brokmeier, U; Leutner, A; Degenhardt, P; Schmiedeke, E; Märzheuser, S; Grasshoff-Derr, S; Holland-Cunz, S; Palta, M; Schäfer, M; Ure, B M; Lacher, M; Nöthen, M M; Schumacher, J; Jenetzky, E; Reutter, H

    2016-11-01

    Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) and anorectal malformations (ARM) represent the severe ends of the fore- and hindgut malformation spectra. Previous research suggests that environmental factors are implicated in their etiology. These risk factors might indicate the influence of specific etiological mechanisms on distinct developmental processes (e.g. fore- vs. hindgut malformation). The present study compared environmental factors in patients with isolated EA/TEF, isolated ARM, and the combined phenotype during the periconceptional period and the first trimester of pregnancy in order to investigate the hypothesis that fore- and hindgut malformations involve differing environmental factors. Patients with isolated EA/TEF (n = 98), isolated ARM (n = 123), and the combined phenotype (n = 42) were included. Families were recruited within the context of two German multicenter studies of the genetic and environmental causes of EA/TEF (great consortium) and ARM (CURE-Net). Exposures of interest were ascertained using an epidemiological questionnaire. Chi-square, Fisher's exact, and Mann-Whitney U-tests were used to assess differences between the three phenotypes. Newborns with isolated EA/TEF and the combined phenotype had significantly lower birth weights than newborns with isolated ARM (P = 0.001 and P studies. © 2015 International Society for Diseases of the Esophagus.

  17. Abernethy malformation: a case report

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    Pathak Ashish

    2012-05-01

    Full Text Available Abstract Background Abernethy malformation is a very rare congenital vascular malformation defined by diversion of portal blood away from liver. It is commonly associated with multiple congenital anomalies. We present a case of Abernethy malformation, without associated congenital anomalies from India. Case presentation A 5-year-old female child presented with short history of jaundice. A provisional diagnosis of acute viral hepatitis was made in view of clinical presentation and local endemicity of viral hepatitis A. Persistence of jaundice on follow up after 4 weeks led to detailed investigations. Ultrasound and doppler study of abdomen revealed drainage of portal vein into inferior vena cava. CT angiography was performed which confirmed the diagnosis of Type 1 b Abernethy malformation without associated major anomalies. We discuss the common clinical presentations, associated anomalies, diagnostic workup and treatment options of this disorder. Conclusion The treatment of the patients with congenital porto-systemic shunts depends on the site of the shunt, associated congenital anomalies and the extent of liver damage but the prognosis depends on the complications irrespective of anatomical type. However, the extent of associated abnormalities should not deter paediatricians to refer patients for treatment. Whenever possible closure of the shunt should be advised for cure or to prevent complications. Only symptomatic type I patients with absence of possibility to close the shunt may require liver transplant. Long-term follow-up is indicated for all patients.

  18. Comparison of MR and fluoroscopic mucous fistulography in the pre-operative evaluation of infants with anorectal malformation: a pilot study

    Energy Technology Data Exchange (ETDEWEB)

    Alves, Jose C.G.; Lotz, Jan W.; Pitcher, Richard D. [Stellenbosch University, Division of Radiodiagnosis, Department of Medical Imaging and Clinical Oncology, Tygerberg Academic Hospital, Cape Town (South Africa); Sidler, Daniel [Stellenbosch University, Division of Pediatric Surgery, Department of Surgical Sciences, Tygerberg Academic Hospital, Cape Town (South Africa)

    2013-08-15

    Anorectal malformations are often associated with rectal pouch fistulas. Surgical correction requires accurate evaluation of the presence and position of such fistulas. Fluoroscopy is currently the chosen modality for the detection of fistulas. The role of MRI is unexplored. To compare the diagnostic accuracy of MR versus fluoroscopic fistulography in the pre-operative evaluation of infants with anorectal malformation. We conducted a pilot study of infants requiring defunctioning colostomy for initial management of anorectal malformation. Dynamic sagittal steady-state free-precession MRI of the pelvis was acquired during introduction of saline into the mucous fistulas. Findings were compared among MR fistulography, fluoroscopic fistulography and intraoperative inspection. Eight children were included. Median age at fistulography was 15 weeks, inter-quartile range 13-20 weeks; all were boys. There was full agreement among MR fistulography, fluoroscopic fistulography and surgical findings. The pilot data suggest that MR fistulography is promising in the pre-operative evaluation of children with anorectal malformation. (orig.)

  19. Quality of Life and Anxiety in Parents of Children with an Anorectal Malformation or Hirschsprung Disease: The First Year after Diagnosis

    NARCIS (Netherlands)

    Witvliet, Marieke J.; Bakx, Roel; Zwaveling, Sander; van Dijk, Tonnis H.; van der Steeg, Alida F. W.

    2016-01-01

    In 2012, we started the KLANKbord-study. A quality of life (QoL) study that follows patients with an anorectal malformation (ARM) or Hirschsprung disease (HD) and their parents from diagnosis till the age of 18 years. We hypothesized that the diagnosis of ARM or HD initially has a negative influence

  20. Anorectal emergencies

    Science.gov (United States)

    Lohsiriwat, Varut

    2016-01-01

    Anorectal emergencies refer to anorectal disorders presenting with some alarming symptoms such as acute anal pain and bleeding which might require an immediate management. This article deals with the diagnosis and management of common anorectal emergencies such as acutely thrombosed external hemorrhoid, thrombosed or strangulated internal hemorrhoid, bleeding hemorrhoid, bleeding anorectal varices, anal fissure, irreducible or strangulated rectal prolapse, anorectal abscess, perineal necrotizing fasciitis (Fournier gangrene), retained anorectal foreign bodies and obstructing rectal cancer. Sexually transmitted diseases as anorectal non-surgical emergencies and some anorectal emergencies in neonates are also discussed. The last part of this review dedicates to the management of early complications following common anorectal procedures that may present as an emergency including acute urinary retention, bleeding, fecal impaction and anorectal sepsis. Although many of anorectal disorders presenting in an emergency setting are not life-threatening and may be successfully treated in an outpatient clinic, an accurate diagnosis and proper management remains a challenging problem for clinicians. A detailed history taking and a careful physical examination, including digital rectal examination and anoscopy, is essential for correct diagnosis and plan of treatment. In some cases, some imaging examinations, such as endoanal ultrasonography and computerized tomography scan of whole abdomen, are required. If in doubt, the attending physicians should not hesitate to consult an expert e.g., colorectal surgeon about the diagnosis, proper management and appropriate follow-up. PMID:27468181

  1. Loop versus divided colostomy for the management of anorectal malformations: a systematic review and meta-analysis.

    Science.gov (United States)

    Youssef, Fouad; Arbash, Ghaidaa; Puligandla, Pramod S; Baird, Robert J

    2017-05-01

    The ideal colostomy type for patients with anorectal malformations (ARM) is undetermined. We performed a systematic review and meta-analysis of short-term complications comparing loop and divided colostomies. After review registration (PROSPERO: CRD42016036481), multiple databases were searched for comparative studies without language or date restrictions. Gray literature was sought. Complications investigated included stomal prolapse/hernia/retraction, wound infections, and urinary tract infections (UTIs). Two reviewers independently assessed study eligibility and the quality of included studies. Meta-analysis of selected complications was performed using Revman 5.3, with pcolostomies and 1994 divided colostomies were reported. Of 10 studies reporting short-term complications, the overall rate was 27%. Meta-analysis demonstrated no significant difference in the incidence of UTIs, (OR: 2.55 [0.76, 8.58], p=0.12), while loop colostomies had a significantly higher prolapse rate (See figure). No publication bias was noted. A colostomy for patients with an ARM is a source of considerable morbidity. Divided colostomies reduce the risk of subsequent prolapse and may represent the preferred approach. 3A. Copyright © 2017 Elsevier Inc. All rights reserved.

  2. Ectopic expression of Ptf1a induces spinal defects, urogenital defects, and anorectal malformations in Danforth's short tail mice.

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    Kei Semba

    Full Text Available Danforth's short tail (Sd is a semidominant mutation on mouse chromosome 2, characterized by spinal defects, urogenital defects, and anorectal malformations. However, the gene responsible for the Sd phenotype was unknown. In this study, we identified the molecular basis of the Sd mutation. By positional cloning, we identified the insertion of an early transposon in the Sd candidate locus approximately 12-kb upstream of Ptf1a. We found that insertion of the transposon caused overexpression of three neighboring genes, Gm13344, Gm13336, and Ptf1a, in Sd mutant embryos and that the Sd phenotype was not caused by disruption of an as-yet-unknown gene in the candidate locus. Using multiple knockout and knock-in mouse models, we demonstrated that misexpression of Ptf1a, but not of Gm13344 or Gm13336, in the notochord, hindgut, cloaca, and mesonephros was sufficient to replicate the Sd phenotype. The ectopic expression of Ptf1a in the caudal embryo resulted in attenuated expression of Cdx2 and its downstream target genes T, Wnt3a, and Cyp26a1; we conclude that this is the molecular basis of the Sd phenotype. Analysis of Sd mutant mice will provide insight into the development of the spinal column, anus, and kidney.

  3. Esophageal atresia associated with anorectal malformation: Is the outcome better after surgery in two stages in a limited resources scenario?

    Directory of Open Access Journals (Sweden)

    Sunita Singh

    2012-01-01

    Full Text Available Aims: To analyze whether outcome of neonates having esophageal atresia with or without tracheoesophageal fistula (EA±TEF associated with anorectal malformation (ARM can be improved by doing surgery in 2 stages. Materials and Methods : A prospective study of neonates having both EA±TEF and ARM from 2004 to 2011. The patients with favorable parameters were operated in a single stage, whereas others underwent first-stage decompression surgery for ARM. Thereafter, once septicemia was under control and ventilator care available, second-stage surgery for EA±TEF was performed. Results: Total 70 neonates (single stage = 20, 2 stages = 30, expired after colostomy = 9, only EA±TEF repair needed = 11 were enrolled. The admission rate for this association was 1 per 290. Forty-one percent (24/70 neonates had VACTERL association and 8.6% (6/70 neonates had multiple gastrointestinal atresias. Sepsis screen was positive in 71.4% (50/70. The survival was 45% (9/20 in neonates operated in a single stage and 53.3% (16/30 when operated in 2 stages (P = 0.04. Data analysis of 50 patients revealed that the survived neonates had significantly better birth weight, better gestational age, negative sepsis screen, no cardiac diseases, no pneumonia, and 2-stage surgery (P value 0.002, 0.003, 0.02, 0.02, 0.04, and 0.04, respectively. The day of presentation and abdominal distension had no significant effect (P value 0.06 and 0.06, respectively. This was further supported by stepwise logistic regression analysis. Conclusions: In a limited resources scenario, the survival rate of babies with this association can be improved by treating ARM first and then for EA±TEF in second stage, once mechanical ventilator care became available and sepsis was under control.

  4. Spinal cord anomalies in patients with anorectal malformations without severe sacral abnormalities or meningomyelocele: outcomes after expectant, conservative management.

    Science.gov (United States)

    Kyrklund, Kristiina; Pakarinen, Mikko P; Taskinen, Seppo; Kivisaari, Reetta; Rintala, Risto J

    2016-12-01

    OBJECTIVE The goal of this study was to determine the significance of spinal cord anomalies (SCAs) in patients with anorectal malformations (ARMs) by comparing the outcomes for bowel function, lower urinary tract symptoms (LUTS), and lower-limb neurological abnormalities to these outcomes in patients with similar ARMs and a normal spinal cord. METHODS The spinal cord MRI records of female patients treated for vestibular and perineal fistula (VF/PF) and male patients with rectourethral fistula (RUF) at a single center between 1983 and 2006 were reviewed. Bowel function and LUTS were assessed by questionnaire. Patients with extensive sacral anomalies or meningomyelocele were excluded. RESULTS Of 89 patients (median age 15 years, range 5-29 years), MRI was available in 90% (n = 80; 40 male patients with RUF), and 80% of patients returned the questionnaire (n = 64; 31 male patients with RUF). Spinal cord anomalies were found in 34%, comprising a filum terminale lipoma in 30%, low conus medullaris in 10%, and thoracolumbar syrinx in 6%. Bowel functional outcomes between patients with SCAs (n = 23) and those with a normal spinal cord (n = 41) were not significantly different for soiling (70% vs 63%), fecal accidents (43% vs 34%), and constipation (57% vs 39%; p = not significant for all). The LUTS, including urge (65% vs 54%), urge incontinence (39% vs 24%), stress incontinence (17% vs 22%), and straining (32% vs 29%) were also comparable between groups (p = not significant for all). No patients developed lower-limb neurological abnormalities. CONCLUSIONS The results suggest that the long-term functional outcomes for patients with SCAs who had VF/PF and RUF may not differ significantly from patients with the same type of ARMs and a normal spinal cord. The results favor a conservative approach to their management in the absence of abnormal neurological findings in the lower limbs.

  5. Preventing posterior sagittal anoplasty ′cripples′ in areas with limited medical resources: A few modifications to surgical approach in anorectal malformations

    Directory of Open Access Journals (Sweden)

    Claudio Olivieri

    2012-01-01

    Full Text Available Background: Anorectal malformations (ARM are the most common neonatal emergencies in Sub-Saharan Africa countries. Late presentation, lack of pediatric facilities and trained paediatric surgeons influence the outcome of these patients. This study reports a 5-year of experience in the management of ARM at the Orotta Referral Hospital in Asmara (Eritrea and proposes some modified surgical approaches to minimize the risk of complications and the length of hospital stay. Materials and Methods: We reviewed the records of 38 patients with ARM observed between September 2006 and April 2011. Since 2009 a modification of original posterior sagittal anorectoplasty (PSARP was introduced, consisting in a long rectal stump (3 cms closed and left at the perineal level, to be trimmed after two weeks. This avoided mucous spillage on the wound and prevented contamination. Post-operative course and outcome were evalued in the two group of patients divided according the type of surgical technique (Group A: Standard PSARP; Group B: Modified PSARP. Results: There were 21 boys and 17 girls aged 4 days to 9 years (median age 182 days. Of the 38 patients, 2 infants died before surgery and 3 refused preliminary colostomy. Previously confectioned colostomies often required revision or redoing due to severe prolapse or malposition. When possible, primary sigmoid colostomy was performed. There were 15 patients in Group A and 18 in Group B. Wound infection or disruption were recorded in 7 cases (46% in Group A and in 2 (11% in Group B. Late complications were related to anal stenosis, which required long term dilatations. Three cases needed a PSARP redo (2 in Group A, 1 Group B. Conclusions: We believe that our simple modification of original PSARP technique could be of help lowering post-operative complications rate and reducing hospital stay. Family compliance is mandatory for long-term surgical success. A relevant time must be spent in training to stoma care and post

  6. The diagnostic concordance of endoanal ultrasonography and endoanal MRI in cases of anorectal fistula

    International Nuclear Information System (INIS)

    Kim, Wan Tae; Yoo, Weon Young; Moon, Hee Jung; Shin, Hyun Ja; Joo, Jae Sik

    2000-01-01

    To evaluate the preoperative diagnostic concordance of morphologic classification of anorectal fistula by endoanal ultrasonography (EUSG) and endoanal magnetic resonance imaging (EMRI). Between January 1998 and March 1999, 17 patients with anorectal fistula underwent endoanal ultrasonography and magnetic resonance imaging for preoperative assessment. The types of fistula and abscess formation were evaluated, and the findings compared with those obtained during surgery. The overall accordance of anorectal fistula was 76% (13 of 17 cases) on ultrasonography and 94% (16 of 17 cases) on magnetic resonance imaging. According to the findings of EUSG, the accordance of each type of anorectal fistula was as follows: transphineteric, 92% (11 of 12 cases); suprasphinteric, 33% (1 of 3); and extrasphincteric, 50% (1 of 2), while for EMRI, the respective figures were 100% (12 of 12 cases), 67% (2 of 3), and 100% (2 of 2). An analysis of reproducibility using kappa value showed that overall concordance between endoanal ultrasonography and surgery (κ=0.820) as well as between endoanal MRI and surgery (κ=0.866), was very close. For the evaluation of anorectal fistula, preoperative endoanal magnetic resonance imaging was more accurate and informative than endoanal ultrasonography

  7. Anorectal Disorders

    Science.gov (United States)

    Rao, Satish S. C.; Bharucha, Adil E.; Chiarioni, Giuseppe; Felt-Bersma, Richelle; Knowles, Charles; Malcolm, Allison; Wald, Arnold

    2016-01-01

    This report defines criteria and reviews the epidemiology, pathophysiology, and management of the following common anorectal disorders: fecal incontinence (FI), functional anorectal pain, and functional defecation disorders. FI is defined as the recurrent uncontrolled passage of fecal material for at least 3 months. The clinical features of FI are useful for guiding diagnostic testing and therapy. Anorectal manometry and imaging are useful for evaluating anal and pelvic floor structure and function. Education, antidiarrheals, and biofeedback therapy are the mainstay of management; surgery may be useful in refractory cases. Functional anorectal pain syndromes are defined by clinical features and categorized into 3 subtypes. In proctalgia fugax, the pain is typically fleeting and lasts for seconds to minutes. In levator ani syndrome and unspecified anorectal pain, the pain lasts more than 30 minutes, but in levator ani syndrome there is puborectalis tenderness. Functional defecation disorders are defined by ≥2 symptoms of chronic constipation or irritable bowel syndrome with constipation, and with ≥2 features of impaired evacuation, that is, abnormal evacuation pattern on manometry, abnormal balloon expulsion test, or impaired rectal evacuation by imaging. It includes 2 subtypes: dyssynergic defecation and inadequate defecatory propulsion. Pelvic floor biofeedback therapy is effective for treating levator ani syndrome and defecatory disorders. PMID:27144630

  8. Combined laparoscopic abdomino-endoscopic perineal total mesorectal excision for anorectal malignant melanoma: A case report

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    Ryo Ohta

    Full Text Available Introduction: This report presents a case of anorectal malignant melanoma treated with combined laparoscopic abdomino-endoscopic perineal total mesorectal excision. Presentation of case: An 82-year-old female presented with hematochezia. Colonoscopy revealed a 5-cm tumor in the anorectal junction, and biopsy specimen showed malignant melanoma. Modified ransanal total mesorectal excision was performed to get the sufficient surgical resection margins. After lymph node dissection in usual manner, mobilizing the rectum to the level of levator ani muscle. Then a skin incision was made around the anus and the transperineal access platform was placed. The fat tissue of the ischioanal fossa was divided until the levator ani muscle was exposed. The oral side of the colon was transected and specimen was extracted through the perineal incision site. Then stoma was placed laparoscopically. Discussion: This procedure provides not only better exposure of the extralevator surgical field, but also efficient resection margins compared with the conventional andominoperineal resection. Conclusion: To the best of our knowledge, this is the first report of combined laparoscopic abdomino-endoscopic perineal total mesorectal excision for anorectal malignant melanoma. Our experience showed safety and feasible option for anorectal malignant diseases. Keywords: Anorectal malignant melanoma, Transanal total mesorectal excision, Laparoscopic abdominoperineal resection, Case report

  9. UTERINE ARTERIOVENOUS MALFORMATION: A CASE REPORT

    OpenAIRE

    Chandrashekar Murthy; Kiran

    2014-01-01

    Uterine arteriovenous malformation (AVM) is a rare condition, with less than 100 cases reported in the literature. Despite it being rare, it is a potentially life threatening disease. This case report describes 31- year-old women who presented with abnormal uterine bleeding. Trans abdominal sonography, colour and spectral Doppler imaging was performed, diagnosis was confirmed by non- invasive MRI scan. Laparoscopic bilateral uterine artery ligation was done successfully.

  10. Anorectal stenosis after treatment with tumor necrosis factor α antibodies: a case series

    Directory of Open Access Journals (Sweden)

    Keegan Denise

    2010-07-01

    Full Text Available Abstract Introduction We identified three patients who developed anorectal stenosis after successful treatment with anti-tumor necrosis factor α (anti-TNF-α agents. Case presentation Two patients, a 24-year-old Irish Caucasian man and a 64-year-old Irish Caucasian woman, developed symptoms attributable to anorectal stenosis four to six weeks after treatment. A further patient, a 25-year-old Irish Caucasian male, presented three years after treatment with anorectal stenosis, having been asymptomatic with his stenosis for the preceding three years. No patients had evidence of active inflammation at time of representation or had previous anal canal surgery. Conclusion Anorectal stenosis in these patients appears to be independent of active inflammation. No other cause of new stenosis could be identified. We postulate that rapid clinical response to anti-TNF-α agents led to aberrant mucosal healing. This in turn led to anorectal stenosis. This is the first report of this complication in association with the use of biologic agents.

  11. Do geography and resources influence the need for colostomy in Hirschsprung's disease and anorectal malformations? A Canadian association of paediatric surgeons: association of paediatric surgeons of Nigeria survey.

    Science.gov (United States)

    Abdur-Rahman, Lukman O; Shawyer, Anna; Vizcarra, Rachel; Bailey, Karen; Cameron, Brian H

    2014-01-01

    This survey compared surgical management of Hirschsprung's disease (HD) and anorectal malformations (ARM) in high and low resource settings. An online survey was sent to 208 members of the Canadian Association of Paediatric Surgeons (CAPS) and the Association of Paediatric Surgeons of Nigeria (APSON). The response rate was 76.8% with 127 complete surveys (APSON 34, CAPS 97). Only 29.5% of APSON surgeons had frozen section available for diagnosis of HD. They were more likely to choose full thickness rectal biopsy (APSON 70.6% vs. CAPS 9.4%, P colostomy for HD (APSON 23.5% vs. CAPS 0%, P colostomy in females with vestibular fistula varied widely independent of geography. APSON surgeons were less likely to have enterostomal therapists and patient education resources. Local resources which vary by geographic location affect the management of HD and ARM including colostomy. Collaboration between CAPS and APSON members could address resource and educational needs to improve patient care.

  12. Complex arteriovenous malformation - a case report

    International Nuclear Information System (INIS)

    Sirakov, S.; Penkov, M.; Marinov, M.; Kamenov, B.

    2014-01-01

    AVMs are composed of a network of channels interposed between feeding arteries and draining veins, without any direct shunt. Two different anatomic types of nidus may be more or less differentiated: The most frequent clinical presentations of brain AVMs are hemorrhage, seizure, chronic headache, and focal deficits not related to hemorrhage. We show a case of 27 years old female came to the hospital in heavy condition with subarachnoid hemorrhage Fisher 4. She had a history of 4 surgical operation of brain AVM in the last 10 years, without significant reduction of the malformation. After discussion of multidisciplinary team, of neuroradiologist and neurosurgeon was decided to be perform endovascular embolization, because of the better outcome for the patient. We performed endovascular treatment of the AVM with achieving subtotal embolization of malformation (90%). The patient recovery completely after 22 days and went home. For the next 18 months follow up there is no data of accidents for the patient. Key words: Arteriovenous Malformation. Subarachnoid hemorrhage. Endovascular treatment. Embolization

  13. Radiological findings of Currarino's triad - a case report and review of the literature

    International Nuclear Information System (INIS)

    Machado Junior, Marcos Alberto; Barbosa, Veronica Aline de Oliveira; Rocha, Josilton Antonio; Ferreira, Eliane Fiuza; Maximo, Marcia Andrade; Castro, Luiz Eduardo; Vieira, Lauro Conceicao

    1998-01-01

    The authors report a child case with congenital malformation Currarino triad characterized by a rare complex of a congenital sacral bony abnormality, anorectal malformation and a presacral mass. A bibliographic review was done, focusing the radiological and tomographic findings. (author)

  14. Anal sphincter electromyography in patients with Anorectal Dysfunctions

    International Nuclear Information System (INIS)

    Trinchet Soler, Rafael; Hidalgo Marrero, Yanet; Espichicoque Megret, Arianne; Manzano Suarez, Jianeya; Perez Gonzales, Ruth Maite

    2009-01-01

    The purpose of this work is to evaluate the electromyography value of anal sphincter in patients with anorectal dysfunctions. Anorectal dysfunctions are frequent reason of pediatric consultation in children, especially with anal incontinence. A study of series of cases in patient with anorectal dysfunctions was carried out from January 2002 to January of 2006. 65 patients were studied. Anorectal malformations (ARM) represented the predominant affection with 38 patients (58.5%), prevailing the male sex in 25 patients (65.8%). Encopresis and intestinal agagliosis dicrease was observed. Sphincter was found before surgical treatment through electromyography in patients with anorectal malformations and colostomy; in those with definitive operation and open colostomy, it avoided the operation in a patient that did not have muscular activity of the external sphincter. In children already operated and with closed colostomy several electromyography changes were observed in correspondence with different incontinence grades. In encopresis cases the study was useful to rule out sphincter functional alterations. Electromyography was pathological in all the operated patients of intestinal aganglionosis. This procedure was very useful for anal incontinence study that helped to determine and establish the prognosis. (author)

  15. Management of anorectal melanoma: report of 17 cases and literature review.

    Science.gov (United States)

    Belbaraka, Rhizlane; Elharroudi, Tijani; Ismaili, Nabil; Fetohi, Mohammed; Tijami, Fouad; Jalil, Abdelouahed; Errihani, Hassan

    2012-03-01

    Primary anorectal melanoma is a rare and aggressive disease. It accounts for 0.5% of all rectal tumors. They are very agressive tumors with poor prognosis. The aim of this study is to report the clinical and evolutionary profile and therapeutical approach of these tumors. A retrospective study of 17 patients with anorectal melanoma diagnosed between January 1998 and December 2007 was performed. The signs and symptoms, diagnostic study, and surgical and medical treatments were analyzed. The average age was 58 years. Sex ratio was 12 men per five women. Patients had symptoms present for an average of 6 months. The most common symptom was rectal bleeding. According to Slingluff classification, five patients had stage I (localized tumor), four cases had stage II (regional nodes metastasis), and eight cases had stage III (distant metastasis). Seven patients have radical surgery. Only two patients received adjuvant immunotherapy. Eight patients received palliative chemotherapy based on dacarbazine or cisplatinum. The median survival was 8 months. Prognosis of anorectal melanoma is still very poor. However, some patients when treated by radical resection may experience long-term survival. The use of adjuvant immunotherapy needs large collaborative studies in view of the rarity of the tumor.

  16. Understanding Experiences of Youth Growing Up with Anorectal Malformation or Hirschsprung's Disease to Inform Transition Care: A Qualitative In-Depth Interview Study.

    Science.gov (United States)

    Nah, Shireen Anne; Ong, Caroline C P; Lie, Desiree; Marimuttu, Vicknesan Jeyan; Hong, Julian; Te-Lu, Yap; Low, Yee; Jacobsen, Anette Sundfor

    2018-02-01

     The impact of anorectal malformation (ARM) or Hirschsprung's disease (HD) in children continues into adulthood despite early surgical correction. We aimed to explore the physical, social, and emotional impacts of these conditions on youth to inform best transition care strategies.  Eligible participants were those aged between 14 and 21 years who had undergone surgery for ARM/HD in our institution. We conducted one-on-one in-depth interviews to saturation using a question guide developed from literature review and clinician expertise. Deidentified transcripts were coded by four coders (two pediatric surgeons, one psychiatrist, and one qualitative expert) for major themes using a constant comparison approach. A theoretical model for understanding the transition experience was developed using grounded theory.  Out of 120 patients identified as eligible, 11 youth (6 males) participated in the study. Interviews lasted from 50 to 60 minutes. Four major themes emerged: (1) social support (subthemes: family as core, friends as outer support), (2) cognitive and emotional change (subthemes: realization/recognition of illness, matching emotional response), (3) impact of physical symptoms (subthemes: adverse effects of abnormal bowel habits, gaining bowel continence control leading to overall feeling of control, need to keep disease private), and (4) healthcare providers (viewed as important information sources). Themes did not differ by gender.  Our model suggests that participants' understanding of bowel disease evolved over time with a "lightbulb" moment in preteens or early teens accompanied by increasing disease ownership and self-management. Clinicians should independently engage with patients in late childhood to address evolving emotional and information needs and encourage increasing autonomy. Future studies should explore communication approaches to meet transition needs of patients. Georg Thieme Verlag KG Stuttgart · New York.

  17. Primary Definitive Procedure versus Conventional Three-staged Procedure for the Management of Low-type Anorectal Malformation in Females: A Randomized Controlled Trial.

    Science.gov (United States)

    Gupta, Alisha; Agarwala, Sandeep; Sreenivas, Vishnubhatla; Srinivas, Madhur; Bhatnagar, Veereshwar

    2017-01-01

    Females with Krickenbeck low-type anorectal malformations - vestibular fistula (VF) and perineal fistula (PF) - are managed either by a primary definitive or conventional three-staged approach. Ultimate outcome in these children may be affected by wound dehiscence leading to healing by fibrosis. Most of the literature favors one approach over other based on retrospective analysis of their outcomes. Whether a statistically significant difference in wound dehiscence rates between these approaches exists needed to be seen. A randomized controlled trial for girls <14 years with VF or PF was done. Random tables were used to randomize 33 children to Group I (primary procedure) and 31 to Group II (three-staged procedure). Statistical analysis was done for significance of difference ( P < 0.05) in the primary outcome (wound dehiscence) and secondary outcomes (immediate and early postoperative complications). Of the 64 children randomized, 54 (84%) had VF. Both groups were comparable in demography, clinical profile and age at surgery. The incidence of wound dehiscence (39.4% vs. 18.2%; P = 0.04), immediate postoperative complications (51.5% vs. 12.9%; P = 0.001), and early postoperative complications (42.4% vs. 12.9%; P = 0.01) was significantly higher in Group I as compared to Group II. Six of 13 children (46.2%) with dehiscence in Group I required a diverting colostomy to be made. Females with VF or PF undergoing primary definitive procedure have a significantly higher incidence of wound dehiscence ( P = 0.04), immediate ( P = 0.001) and early postoperative complications ( P = 0.01).

  18. Aneurysmal malformation of the extrahepatic portal vein: a case report

    International Nuclear Information System (INIS)

    Lee, Jeong Min; Kang, Sung Soo; Kim, Chong Soo; Han, Hyeun Young

    1999-01-01

    Aneurysmal malformation of the portal vein is a rare entity. To our knowledge, only scattered reports of portal vein aneurysms appear in the literature in English, and there is no previously published report in Korean. We describe a case exhibiting aneurysmal malformation of the extrahepatic portal vein at the hepatic hilum ; the findings demonstrated by ultrasound, CT and angiography are discussed, a review of previously described cases is included

  19. Lamb congenital lymphatic malformation - a case report

    Directory of Open Access Journals (Sweden)

    Neria Santos

    2014-01-01

    Full Text Available Lymphatic malformations have been rarely reported in literature either in humans or in animals. However, in recent years, concern about these malformations in humans has increased. A five-month-old Rasa Aragonesa male lamb was received at the Ovine Clinical Service of the Veterinary Faculty of Zaragoza, Spain, with a history of cervical protuberances coming from birth. The lamb showed three round swollen lumps (5–12 cm in diameter parallel to the trachea on the left side of the neck. Clinical examination, haematology, ultrasonography, fluid examination and histopathology were performed. No abnormalities were found in blood samples and ultrasound confirmed a multicystic lesion with internal separations. Histological evaluation of the tissue revealed dilated lymphatic vessels and channels in the dermis and hypodermis; some lymphatic vessels were filled with amorphous proteinaceous material and occasional lymphocytes and macrophages. These protuberances were diagnosed as congenital lymphatic malformations. Most of the gross and microscopical lesions were very similar to those described in humans. To the authors’ knowledge, this is the first time that a congenital lymphatic malformation is described in sheep.

  20. Quality of Life and Anxiety in Parents of Children with an Anorectal Malformation or Hirschsprung Disease: The First Year after Diagnosis.

    Science.gov (United States)

    Witvliet, Marieke J; Bakx, Roel; Zwaveling, Sander; van Dijk, Tonnis H; van der Steeg, Alida F W

    2016-02-01

    In 2012, we started the KLANKbord-study. A quality of life (QoL) study that follows patients with an anorectal malformation (ARM) or Hirschsprung disease (HD) and their parents from diagnosis till the age of 18 years. We hypothesized that the diagnosis of ARM or HD initially has a negative influence on QoL and anxiety levels of parents, but that this influence will diminish over time. The aim of this study is to see whether QoL and anxiety levels of parents change within the first year after the diagnosis. Parents of all children born with ARM or HD, were eligible for this study. Within 3 months after the diagnosis ARM or HD, parents received a set of validated QoL questionnaires (measurement 1). Measurement 2 was 12 months after the first questionnaire. During measurement 1 mothers (n = 20) scored significantly higher on the social (p value, 0.01; 95% confidence interval [CI], 0.3946-3.1528) and environmental domain (p value, 0.01; 95% CI, 0.4449-2.2851) of the World Health Organization Quality of Life-BREF (WHOQOL-BREF) compared with the known reference values. Fathers (n = 19) scored significantly higher on the physical (p value, 0.01; 95% CI, 0.2964-1.8072), psychological (p value, 0.001; 95% CI, 0.7697-2.4757), and environmental domain (p value, 0.003; 95% CI, 0.5586-2.4214) than the reference values. Comparison of all domains of the WHOQOL-BREF for mothers and fathers between measurements did not show a significant difference. Anxiety levels of mothers were lower during measurement 2 compared with measurement 1. Anxiety levels of fathers were higher during measurement 2 compared with measurement 1. These differences are not significant. Anxiety levels of mothers were significantly higher than anxiety levels of fathers during measurement 1 (p value, 0.002; 95% CI, 0.808-2,956). During measurement 2 this difference in anxiety of mothers versus fathers did not exist (p value, 0.373; 95% CI, -1.157 to 2.922). A negative influence on the QoL of parents having a

  1. Radiation dermatitis after spinal arteriovenous malformation embolization: case report

    International Nuclear Information System (INIS)

    Carstens, G.J.; Horowitz, M.B.; Purdy, P.D.; Pandya, A.G.

    1996-01-01

    Few cases of radiation injury related to lengthy interventional neuroradiologic procedures have been reported, although concern has been heightened, as evidenced by a 1994 FDA Public Health Advisory. We report a case of radiation-induced dermatitis in a patient undergoing multiple diagnostic and embolization procedures for treatment of a spinal arteriovenous malformation. (orig.). With 2 figs

  2. A case report of aphallia with urorectal septum malformation sequence in a newborn: a very rarely seen condition

    Directory of Open Access Journals (Sweden)

    Sharma D

    2015-12-01

    Full Text Available Deepak Sharma,1 Ravinder Singh,2 Sweta Shastri3 1Department of Neonatology, Fernandez Hospital, Hyderabad, 2Department of Pediatrics, Civil Hospital, Hisar, Haryana, 3Department of Pathology, NKP Salve Medical College, Nagpur, Maharashtra, India Abstract: Aphallia (absence of penis is an extremely rare abnormality which has rarely been described in medical literature and can be part of the urorectal septum malformation sequence (URSMS. URSMS has hardly been reported in medical literature and includes the absence of perineal and anal openings in association with ambiguous genitalia and urogenital, colonic, and lumbosacral anomalies. This case report tells the importance of detailed examination of infants that are diagnosed with aphallia. We report a case of a newborn who was diagnosed as aphallia with the URSMS syndrome after birth. The neonate had an endocardial cushion defect (atrial septal defect and ventricular septal defect and bilateral agenesis of the kidney. The neonate succumbed to death secondary to hypoplastic lung leading to respiratory failure. Keywords: aphallia, urorectal septum malformation sequence, cloacal membrane, hindgut development, congenital aphallia, anorectal malformation

  3. Two Cases of Arnold-Chiari Malformation with Respiratory Failure

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    Sinem Iliaz

    2014-03-01

    Full Text Available Arnold–Chiari malformation is defined as downward displacement of the brainstem and cerebellum through the foramen magnum. It has different clinical presentations and four subtypes. It is known that downward migration of posterior fossa components through the foramen magnum and associated lower cranial nerve palsy and brainstem compression can cause respiratory failure. Acute respiratory failure could mark the onset of the disease. Posterior fossa decompression performed to treat primary disease can improve the central sleep abnormalities. As respiratory failure is rarely seen, this paper presents two cases of Arnold–Chiari malformation with respiratory failure.

  4. The Development of a Canine Anorectal Autotransplantation Model Based on Blood Supply: A Preliminary Case Report

    Science.gov (United States)

    Nakamura, Tatsuo; Sato, Tomoyuki; Naito, Munekazu; Fujii, Satoshi; Mihara, Makoto; Koshima, Isao

    2012-01-01

    Colostomy is conventionally the only treatment for anal dysfunction. Recently, a few trials of anorectal transplantation in animals have been published; however, further development of this technique is required. Moreover, it is crucial to perform this research in dogs, which resemble humans in anorectal anatomy and biology. We designed a canine anorectal transplantation model, wherein anorectal autotransplantation was performed by anastomoses of the rectum, inferior mesenteric artery (IMA) and vein, and pudendal nerves. Resting pressure in the anal canal and anal canal pressure fluctuation were measured before and after surgery. Graft pathology was examined three days after surgery. The anal blood supply was compared with that in three beagles using indocyanine green (ICG) fluorescence angiography. The anorectal graft had sufficient arterial blood supply from the IMA; however, the graft’s distal end was congested and necrotized. Functional examination demonstrated reduced resting pressure and the appearance of an irregular anal canal pressure wave after surgery. ICG angiography showed that the pudendal arteries provided more blood flow than the IMA to the anal segment. This is the first canine model of preliminary anorectal autotransplantation, and it demonstrates the possibility of establishing a transplantation model in dogs using appropriate vascular anastomoses, thus contributing to the progress of anorectal transplantation. PMID:22970198

  5. Emergency treatment of violent trauma: clinical cases and surgical treatment of penetrating thoracoabdominal, perineal and anorectal trauma.

    Science.gov (United States)

    Zuccon, William; Paternollo, Roberto; Del Re, Luca; Cordovana, Andrea; De Murtas, Giovanni; Gaverini, Giacomo; Baffa, Giulia; Lunghi, Claudio

    2013-01-01

    The authors analyse clinical cases of penetrating thoracic, abdominal, perineal and anorectal injury and describe the traumatic event and type of lesion, the principles of surgical treatment, the complication rate and follow up. In the last 24 months, we analyzed 10 consecutive cases of penetrating thoracic and abdominal wounds [stab wound (n=7), with evisceration (n=4), gunshot wound (n=1)], and penetrating perineal and anorectal wounds (impalement n=4). In addition, we report an unusual case of neck injury from a stab wound. All the patients underwent emergency surgery for the lesions reported. In 7 cases of perforating vulnerant thoracoabdominal trauma from stab wounds there was hemoperitoneum due to bleeding from the abdominal wall (n=3), the omentum (n=1), the vena cava (n=1) and the liver (n=2). Evisceration of the omentum was observed in 4 cases. In 2 cases laparoscopy was performed. In one case laparotomy and thoracoscopy was performed. In a patient with an abdominoperineal gunshot wound, exploration was extraperitoneal. The 4 cases of perineal and anorectal impalement were treated with primary reconstruction, while in one case a laparotomy was needed to suture the rectum and fashion a temporary colostomy. In one case of anorectal injury rehabilitation resulted in a gradual improvement of fecal continence, while in the patient with the colostomy follow up at 2 months was scheduled to plan colostomy closure. Based on the our clinical experience and the literature, in penetrating abdominal trauma laparotomy may be required if patients are hemodynamically unstable (or in hemorrhagic shock), in patients with evisceration and peritonitis, or for exploration of penetrating thoracoabdominal and epigastric lesions. In anterior injuries of the abdominal wall from gunshot or stab wounds, laparotomy is indicated when there is peritoneal violation and significant intraperitoneal damage. In patients with actively bleeding wounds of the abdominal wall muscles minimal

  6. Functional Anorectal Disorders.

    Science.gov (United States)

    Rao, Satish Sc; Bharucha, Adil E; Chiarioni, Giuseppe; Felt-Bersma, Richelle; Knowles, Charles; Malcolm, Allison; Wald, Arnold

    2016-03-25

    This report defines criteria and reviews the epidemiology, pathophysiology, and management of common anorectal disorders: fecal incontinence (FI), functional anorectal pain and functional defecation disorders. FI is defined as the recurrent uncontrolled passage of fecal material for at least 3 months. The clinical features of FI are useful for guiding diagnostic testing and therapy. Anorectal manometry and imaging are useful for evaluating anal and pelvic floor structure and function. Education, antidiarrheals and biofeedback therapy are the mainstay of management; surgery may be useful in refractory cases. Functional anorectal pain syndromes are defined by clinical features and categorized into three subtypes. In proctalgia fugax, the pain is typically fleeting and lasts for seconds to minutes. In levator ani syndrome (LAS) and unspecified anorectal pain the pain lasts more than 30 minutes, but in LAS there is puborectalis tenderness. Functional defecation disorders are defined by >2 symptoms of chronic constipation or irritable bowel syndrome with constipation, and with >2 features of impaired evacuation i.e., abnormal evacuation pattern on manometry, abnormal balloon expulsion test or impaired rectal evacuation by imaging. It includes two subtypes; dyssynergic defecation and inadequate defecatory propulsion. Pelvic floor biofeedback therapy is effective for treating LAS and defecatory disorders. Copyright © 2016 AGA Institute. Published by Elsevier Inc. All rights reserved.

  7. [Post-operative analgesia in case of ano-rectal diseases].

    Science.gov (United States)

    Rossitto, Maurizio; Pantè, Sebastiano; Manfrè, Antonino; Ciccolo, Antonio

    2009-01-01

    The aim of the study was that to evaluate the post-operative pain in case of ano-rectal diseases wether treated by ketorolac, or buprenorphine or tramadol. The intensity of post-operative pain was evaluated in 60 patients with hemorrhoidal diseases, fistulae, abscesses and anal neoplasms, divided into three homogenous groups and treated with intramuscular ketorolac (Group I), transdermal buprenorphine (Group II) and tramadol in elastomeric pump (Group III). The average index of the visual analogue scale, as mean to evaluate the intensity of the post-operative pain, was 1,85 in the first group, 1,20 in the second one and 1,40 in the third group. In patients treated with transdermal buprenorphine or with tramadol in elastomeric pump there has been a more quick psycho-physical recovery than in those treated with ketorolac; the management of elastomeric pump represents however for patients cause of concern while the transdermal system is a kind of rational and comfortable way of treatment of the pain, with the advantage of being non-invasive. Better compliance and lower operating costs have given the preference to the use of transdermal buprenorphine for the treatment of diseases of the post-operative pain in the diseases of the anal canal.

  8. A case report of corgenotal cystic adenomatoid malformation

    International Nuclear Information System (INIS)

    Jun, Soon Ae; Cha, Kyung Sub; Chi, Je Geun

    1987-01-01

    Congenital cystic adnomatoid malformation (CCAM) is rare pulmonary cystic disease. CCAM has been detected on prematurity, stillborn and respiratory distress infant or child by chest X-ray film and CT scan. One case of CCAM diagnosed in utero at gestational age 22 weeks is reported with sonographic findings and autopsy findings. Ultrasonographic findings are large cystic lesion in fetal thorax and fetal hydrops without hydramnios. The survival of these infants is very poor despite accurate prenatal diagnosis and maximal postnatal care

  9. Prenatal diagnosis of congenital cystic adenomatoid malformation of the lung: A case report

    International Nuclear Information System (INIS)

    Shin, Hyun Ja; Shin, M. J.; Yoo, Y. J.; Park, J. M.; Kim, J. R.

    1990-01-01

    Congenital cystic adenomatoid malformation is one of a rare congenital malformation usually unilateal in volving a part of lobe or a whole lobe of the fetal lung, characterized by excessive growing of terminal respiratory element. We made a prenatal diagnosis in a case of congenital cystic adenomdtoid malformation with diffuse bilateral involvement, Stocker Type III which is associated with fetal hydrops

  10. Cutaneous metastasis in anorectal adenocarcinoma

    Directory of Open Access Journals (Sweden)

    Krishnendra Varma

    2015-01-01

    Full Text Available Cutaneous metastasis in anorectal adenocarcinoma is a rare entity. Here, we report the case of a 40-year-old female who presented with yellowish-brown, irregular, solid, elevated rashes over the pubis with a recent history off palliative colostomy for anorectal adenocarcinoma. Clinically, we suspected metastasis that was proved on biopsy. We report this case due to the rare presenting site (i.e., perineum of a metastatic adenocarcinoma.

  11. CT analysis of 333 cases of congenital malformations of the external and middle ear

    International Nuclear Information System (INIS)

    Zou Xin; Li Qiang; Wang Zhenchang; Xian Junfang; Lan Baosen

    1997-01-01

    To analyze the different CT findings of congenital malformations of the external and middle ear, 333 cases including 404 ears with external and middle ear malformations diagnosed by high resolution CT (HRCT) were analysed according to the location and type of the malformation. In 404 ears, there were 364 ears with atresia of external auditory meatus, 40 ears with stenosis of external auditory meatus, 377 ears with malformation of the ossicles, 382 ears with stenosis of tympanum and 333 ears with anterior position of the mastoid segment of the facial canal. HRCT can show the location and type of external and middle ear malformation and provide valuable information for surgery

  12. Arnold-Chiari Type II Malformation: A Case Report and Review of Prenatal Sonographic Findings

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    Maryam Nik Nejadi

    2008-01-01

    Full Text Available The Arnold-Chiari malformation is a congenital abnormality of CNS, characterized by downwarddisplacement the parts of the cerebellum, fourth ventricle, pons and medulla oblongata into thespinal canal. This malformation is one of causative factor of death in neonates and infants. Athorough understanding of the direct and indirect sonographic findings is necessary for diagnosis ofChiari II malformation in the developing fetus.In this case report, we present a Chiari malformation II detected at 23 weeks of gestation by routinelysonographic screening. The Role of prenatal sonography in recognition of the malformation andprognostic value of these features are discussed.

  13. Sirenomelia sequence: early prenatal diagnosis of one rare case associated with acardiac malformation.

    Science.gov (United States)

    Zanforlin Filho, Sebastião M; Guimarães Filho, Hélio A; Araujo Júnior, Edward; Pires, Cláudio R; Mattar, Rosiane; Nardozza, Luciano M M

    2007-04-01

    Sirenomelia sequence is a very rare congenital malformation, with incidence of around 1.5-4.2 per 100,000 births. Prenatal diagnosis of sirenomelia in the first trimester is rare; there are only five cases reported for the present, and the association of sirenomelia with acardiac malformation is even rarer. We present a rare case of sirenomelia associated with acardiac malformation detected in the first trimester through combined two-dimensional, three-dimensional and color Doppler sonographies.

  14. Use of the direct puncture technique in management of capillaro-venous malformations: case report

    Directory of Open Access Journals (Sweden)

    Tyagi Isha

    2002-03-01

    Full Text Available Abstract Background Preoperative devascularization of the capillaro-venous malformations located in the aero-digestive tract is important for surgeons, to minimize blood loss during surgical excision of malformations. Case presentation Here we present two cases of capillaro-venous malformation in which we could successfully achieve preoperative devascularization, by directly injecting n-butyl cyano acrylate into the capillaro-venous bed. This technique is relatively easy, safe and cheap, and can be carried out immediately before surgery.

  15. Do geography and resources influence the need for colostomy in Hirschsprung′s disease and anorectal malformations? A Canadian association of paediatric surgeons: Association of paediatric surgeons of Nigeria survey

    Directory of Open Access Journals (Sweden)

    Lukman O. Abdur-Rahman

    2014-01-01

    Full Text Available Background: This survey compared surgical management of Hirschsprung′s disease (HD and anorectal malformations (ARM in high and low resource settings. Materials and Methods: An online survey was sent to 208 members of the Canadian Association of Paediatric Surgeons (CAPS and the Association of Paediatric Surgeons of Nigeria (APSON. Results: The response rate was 76.8% with 127 complete surveys (APSON 34, CAPS 97. Only 29.5% of APSON surgeons had frozen section available for diagnosis of HD. They were more likely to choose full thickness rectal biopsy (APSON 70.6% vs. CAPS 9.4%, P < 0.05 and do an initial colostomy for HD (APSON 23.5% vs. CAPS 0%, P < 0.05. Experience with trans-anal pull-through for HD was similar in both groups (APSON 76.5%, CAPS 66.7%. CAPS members practising in the United States were more likely to perform a one-stage pull-through for HD during the initial hospitalization (USA 65.4% vs. Canada 28.3%, P < 0.05. The frequency of colostomy in females with vestibular fistula varied widely independent of geography. APSON surgeons were less likely to have enterostomal therapists and patient education resources. Conclusions: Local resources which vary by geographic location affect the management of HD and ARM including colostomy. Collaboration between CAPS and APSON members could address resource and educational needs to improve patient care.

  16. A case of pancreatic AV malformation in an elderly man.

    Science.gov (United States)

    Gupta, Vipin; Kedia, Saurabh; Sonika, Ujjwal; Madhusudhan, Kumble Seetharama; Pal, Sujoy; Garg, Pramod

    2018-06-01

    A 60-year-old man presented with recurrent abdominal pain and weight loss for 6 months. Abdominal imaging showed a large vascular lesion in the head and neck of pancreas suggestive of arteriovenous malformation (AV malformation). Endoscopic ultrasound was done which showed features of AV malformation with no evidence of pancreatic malignancy. Surgery was planned for definitive treatment of malformation. Digital subtraction angiography with angioembolization was done prior to surgery to reduce vascularity of the lesion. He recovered after a pylorus preserving pancreaticoduodenectomy. Histopathology of the resected specimen confirmed the pancreatic AV malformation. There has been no recurrence at 2 years of follow-up.

  17. Early reported rectal sensation predicts continence in anorectal anomalies.

    Science.gov (United States)

    Skerritt, Clare; Tyraskis, Athanasios; Rees, Clare; Cockar, Iram; Kiely, Edward

    2016-03-01

    Straining at stool is an automatic reflex in babies and implies the presence of rectal sensation. We hypothesised that early reported rectal sensation would predict future continence in children with anorectal anomalies. The aim of this study is to determine if early straining at stool was a useful predictor of future continence in infants born with high anorectal malformations. A retrospective case note review of prospectively collected clinical information was performed with institutional review board approval. All patients with intermediate/high anorectal malformation operated on by a single surgeon from 1984 to 2010 were included. After stoma closure, parents were asked: The responses were noted within the first year of stoma closure and then all patients were followed up until they were at least 3 ½years old and continence could be assessed using the Krickenbeck outcome classification. Data were compared using Fisher's exact test and sensitivity, specificity and positive predictive value (PPV) were calculated. Forty-eight patients were included in the study. Sixteen (33%) were female (12 cloacal malformation, 3 rectovaginal fistula, 1 rectal atresia) and 32 (66%) were male (6 rectovesical fistulae, 22 rectourethral fistulae, 4 no fistula). Median follow-up was 9.7years (range 3.5-17.9). Twenty-one children were noted by their parents to exhibit early straining at stool after stoma closure. Twenty of them achieved long term continence. The sensitivity of early straining as a predictor for long term continence was 77%, specificity 95% and positive predictive value 95%. The presence of early rectal sensation reported by parents is a good predictor of long term continence. This allows more informed discussion with families in the early years of life. Copyright © 2016 Elsevier Inc. All rights reserved.

  18. Urinary lithiasis and urinary tract malformations in children: A retrospective study of 34 cases

    Directory of Open Access Journals (Sweden)

    Jamila Chahed

    2011-01-01

    Full Text Available Background: Although the association of urinary lithiasis and urinary tract malformation is not rare, their management poses challenges. The aim of this study was to evaluate the relationship between urolithiasis and malformations of the urinary system. There were 34 patients (19 males and 15 females with a mean age of 4.8 years (range, 2 months to 14 years. All patients had urinary lithiasis with a urinary tract malformation. Abdominal pain was the most frequent clinical symptom (38%. Urinary infection was found in 7 patients (21% and macroscopic haematuria was present in 10 patients (29%. The most frequent urinary tract malformations were megaureter (8 cases, uretero-pelvic junction obstruction (7 cases and vesico-ureteric reflux (8 cases, but its malformative origin could not be confirmed. Treatment consisted of lithiasis extraction in 32 cases associated with specific treatment of the uropathy in 27 cases. Postoperative outcome was uneventful in all cases. In fact, urinary lithiasis and urinary tract malformation association is not rare. Indeed, 9-34% of urinary lithiasis are noted to be associated with urinary tract malformation. Positive diagnosis relies specifically on kidney ultrasound, intravenous urography, and urethrocystography. Treatment depends on the type of urinary tract malformation, localisation and size of the urinary lithiasis. Conclusion: In conclusion, urinary lithiasis and urinary tract malformation association is a frequent eventuality. Surgical intervention is the usual mode of treatment.

  19. Sirenomelia with upper limb malformation: a case report and review of the literature.

    Science.gov (United States)

    Su, D; Yao, Q

    2015-01-01

    Sirenomelia sequence is a rare lethal pattern of congenital anomalies characterized by fusion of the legs and a variable combination of visceral abnormalities. Some cases accompanied with rare malformations have been reported. In this article, the authors report a case of sirenomelia with upper limb malformations and a review of the literature.

  20. Rare Abdominal Wall Malformation: Case Report of Umbilical Cord Hernia

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    Andro Gliha

    2018-02-01

    Full Text Available The umbilical cord hernia is the rarest form of abdominal wall malformations, anatomically completely different from gastroschisis and omphalocele. It occurs due to the permanent physiological evisceration of abdominal organs into umbilical celom and persistence of a patent umbilical ring. The umbilical cord hernia is often mistaken for omphalocele and called “small omphalocele”. Here we present a case of a female newborn with umbilical cord hernia treated in our Hospital. After preoperative examinations surgery was done on the second day of life. The abdominal wall was closed without tension. The aim of this article is to present the importance of the proper diagnose of these three entities and to stimulate academic community for the answer, is this umbilical cord hernia or small omphalocele.

  1. Rare Abdominal Wall Malformation: Case Report of Umbilical Cord Hernia.

    Science.gov (United States)

    Gliha, Andro; Car, Andrija; Višnjić, Stjepan; Zupancic, Bozidar; Kondza, Karmen; Petracic, Ivan

    The umbilical cord hernia is the rarest form of abdominal wall malformations, anatomically completely different from gastroschisis and omphalocele. It occurs due to the permanent physiological evisceration of abdominal organs into umbilical celom and persistence of a patent umbilical ring. The umbilical cord hernia is often mistaken for omphalocele and called "small omphalocele". Here we present a case of a female newborn with umbilical cord hernia treated in our Hospital. After preoperative examinations surgery was done on the second day of life. The abdominal wall was closed without tension. The aim of this article is to present the importance of the proper diagnose of these three entities and to stimulate academic community for the answer, is this umbilical cord hernia or small omphalocele.

  2. An Incidentally Detected Venous Malformation of the Uterine Cervix: Case Report

    Directory of Open Access Journals (Sweden)

    Yeşim Bayoğlu Tekin

    2016-01-01

    Full Text Available Venous malformations of the uterine cervix are extremely rare. Most lesions are asymptomatic and incidental, however sometimes, they may present with abnormal vaginal bleeding. We aimed to describe a case of venous malformation of the uterine cervix and discuss the differential diagnosis and clinical management of this entity.

  3. Congenital cystic adenomatoid malformation: case presentation in a two months old infant

    International Nuclear Information System (INIS)

    Aqrabawi, H.E.; Shabatat, M.; Abbadi, B.M.

    2015-01-01

    Congenital cystic adenomatoid malformation (CCAM) is a rare abnormality of lung development; it is increasingly detected by the routine ultrasound scan during pregnancy. The severity of the abnormality is very variable. Herein, we present a case of congenital cystic adenomatoid malformation that presented in a two months old infant who had normal initial chest X rays. (author)

  4. Prostatic urethra malformation associated with retrograde ejaculation: a case report.

    Science.gov (United States)

    Zhao, Kai; Zhang, Jianzhong; Xu, Aiming; Zhang, Cheng; Wang, Zengjun

    2016-12-21

    Retrograde ejaculation can have anatomical, neurogenic, or pharmacological causes. Among these factors, malformation of the prostatic urethra is an uncommon cause. We describe a 29-year-old Han Chinese man with absence of his verumontanum combined with ejaculatory duct cysts, and no other cause for ejaculatory dysfunction. His verumontanum was replaced by a deep groove adjacent to his bladder neck, which could significantly influence bladder neck contraction. In addition, the large cysts in the ejaculatory duct could obstruct the anterior outlet of his prostatic urethra and prevent seminal fluid flow in an anterograde direction. There are few reports of retrograde ejaculation associated with congenital malformations of the posterior urethra. Malformations associated with bladder neck laxity and increased tone of the prostatic urethral outlet can contribute to retrograde ejaculation. Malformation of the prostatic urethra is an uncommon cause of retrograde ejaculation, and can be difficult to treat.

  5. Inguinal and anorectal Lymphogranuloma Venereum: a case series from a sexually transmitted disease center in Rome, Italy.

    Science.gov (United States)

    Latini, Alessandra; Zaccarelli, Mauro; Paglia, Maria Grazia; Donà, Maria Gabriella; Giglio, Amalia; Moretto, Domenico; Vulcano, Antonella; Giuliani, Massimo; Colafigli, Manuela; Ambrifi, Marina; Pimpinelli, Fulvia; Cristaudo, Antonio

    2017-06-02

    Lymphogranuloma venereum (LGV) is a sexually transmitted infection caused by L1, L2, L3 serovars of C. trachomatis (CT). Since 2003, LGV cases have been increasing in Europe. Aim of this report is to describe the LGV cases diagnosed in the largest STI center in Rome, Italy, from 2000 to 2016. This report shows that two clinically and epidemiologically different series of cases exist, and that, at present, the ano-rectal LGV represents the clinical variant occurring more frequently among men having sex with men (MSM), particularly those HIV-infected. Ten cases of LGV were observed. Three were diagnosed in 2009 in HIV-negative heterosexuals patients that presented the classical genito-ulcerative form with lymphadenopathy. Seven cases were observed in 2015-2016 in HIV-infected MSM, that presented the rectal variant and L2b serovar infection; 4 of these had been misclassified as a chronic bowel disease. Chlamydia infection was confirmed by CT-specific PCR (ompA gene nested PCR), followed by sequence analysis to identify the serovar. All the patients were treated with doxycycline for 3 weeks, obtaining a complete response with healing of both clinical symptoms and dermatological lesions. Our findings suggest that, in case of persistent rectal symptoms in HIV-infected MSM, LGV should be taken into account and investigated through molecular analyses, in order to achieve a correct diagnosis and management of the patients.

  6. Anorectal smear in the diagnosis of anorectal adenocarcinoma

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    D Demirel

    2013-01-01

    Full Text Available The purpose of this case report is to point out the diagnostic value of cytologic smears in patients presenting with anorectal complaints, such as bleeding, pain or discomfort, which may suggest a neoplastic lesion. We present a case of a 64-year-old man with a 3 months′ history of anal bleeding and pain during defecation. He was diagnosed as having hemorrhoids and a hemorrhoidectomy was performed. The patient developed an anal stricture postoperatively that required operative dilation. He continued to complain about anorectal pain for 2 months and a subsequent rectoscopy revealed the presence of tumor 5 to 7 cm above the dentate line. The tumor was resected laparoscopically and was reported as an adenocarcinoma. Rectal bleeding recurred 18 months postoperatively and a smear was procured from the anorectal mucosal surface for cytologic evaluation. A definitive diagnosis of adenocarcinoma was rendered based on cytologic and histologic examination of the material. To the best of our knowledge, this is the first case report of anorectal adenocarcinoma diagnosed by cytologic smear in the English literature.

  7. Bilateral Cerebellar Cortical Dysplasia without Other Malformations: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Oh, Jung Seok; Ahn Kook Jin; Kim, Jee Young; Lee, Sun Jin; Park, Jeong Mi [Catholic University Yeouido St. Mary' s Hospital, College of Medicine, Seoul (Korea, Republic of)

    2010-06-15

    Recent advances in MRI have revealed congenital brain malformations and subtle developmental abnormalities of the cerebral and cerebellar cortical architecture. Typical cerebellar cortical dysplasia as a newly categorized cerebellar malformation, has been seen in patients with Fukuyama congenital muscular dystrophy. Cerebellar cortical dysplasia occurs at the embryonic stage and is often observed in healthy newborns. It is also incidentally and initially detected in adults without symptoms. To the best of our knowledge, cerebellar dysplasia without any related disorders is very rare. We describe the MRI findings in one patient with disorganized foliation of both cerebellar hemispheres without a related disorder or syndrome

  8. Parasitic twin--a supernumerary limb associated with spinal malformations. A case report.

    Science.gov (United States)

    Sahlu, Abat; Mesfin, Brook; Tirsit, Abenezer; Debebe, Tequam; Wester, Knut

    2016-03-01

    We describe a case of rachipagus parasitic twin with spinal cord malformations (lipomyelomeningocele and tethered cord) in a 7-month-old Ethiopian infant. The parasitic mass had a well-formed foot, ankle and lower leg and a small sinus that resembled an anus. Magnetic resonance imaging scans revealed spinal malformations including a distal syringohydromyelia. The mass was successfully resected and the dural attachment was closed. Histopathological examination confirmed the diagnosis. Postoperatively, the child had unchanged, intact neurological function in both lower limbs. Almost all rachipagus parasitic twins are associated with spinal malformations. They should, therefore, be operated on by surgeons experienced in myelomeningocele surgery.

  9. Study of the density of ganglion cells in the terminal bowel of rats with anorectal malformations Estudo da densidade das células ganglionares no intestino terminal de ratos portadores de anomalia anorretal

    Directory of Open Access Journals (Sweden)

    Maurício Macedo

    2007-12-01

    Full Text Available PURPOSE: To study the ganglion cells (GC in the terminal bowel of rats with ethylenethiourea (ETU induced anorectal malformations (ARM. METHODS: The animals were divided into three groups: Group A - normal fetuses from pregnant rats that were not administered ETU; Group B - fetuses without ARM born from pregnant rats that were administered ETU and Group C - fetuses with ARM born from pregnant rats that received ETU. ETU was administered on the 11th day of pregnancy at the dose of 125 mg/kg body weight by gastric gavage. The rats had cesarean section on the 21st day of gestation. The fetuses’ terminal bowel tissue was analyzed by immunohistochemistry to demonstrate ganglion cells. RESULTS: Statistically significant differences were found between groups A, B and C regarding ganglion cell densities. Group A had the highest cell density, followed by Group B and the lowest density was found in Group C. CONCLUSION: Ganglion cell densities are decreased in the terminal bowel of rats with ARM.OBJETIVO: Estudar as células ganglionares (CG no intestino terminal de ratos portadores de anomalia anorretal (AAR induzida pela etilenotiouréia (ETU. MÉTODOS: Os animais foram distribuídos em três grupos: Grupo A - fetos normais, obtidos de ratas grávidas às quais não foi administrada ETU; Grupo B - fetos não portadores de AAR obtidos de ratas grávidas às quais foi administrada ETU e Grupo C - fetos portadores de AAR obtidos de ratas grávidas às quais foi administrada ETU. A ETU foi administrada no décimo primeiro dia de gestação na dose de 125 mg/Kg, por gavagem. As ratas foram submetidas à laparotomia e histerotomia para retirada dos fetos no vigésimo primeiro dia de gestação. O intestino terminal dos fetos foi retirado e analisado por imunohistoquímica para pesquisa de CG. RESULTADOS: Foram encontradas diferenças estatisticamente significantes entre os grupos A, B e C quanto à densidade de CG. O grupo A apresentou a maior densidade

  10. Congenital Cystic Adenomatoid Malformation of Lung-Rare Case Report

    Directory of Open Access Journals (Sweden)

    N. S. Kamakeri

    2016-10-01

    Full Text Available Congenital cystic adenomatoid malformation of lung associated with Cystic dysplasia of kidney, cystic disease of liver with mixed gonadal dysgenesis is rare and is not reported in literature so far. Hence an attempt is made to present this rarest entity.

  11. Rectal and splenic vascular malformation in klippel trenaunay weber syndrome: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Ha Youn; Chang, Yun Woo; Lee, Dong Hwan [Soonchunhyang Univ. Hospital, Seoul (Korea, Republic of)

    2012-10-15

    Klippel Trenaunay Weber syndrome (KTWS) is a rare congenital disorder, characterized by a cutaneous vascular nevus of the involved extremity, vascular malformations, bone and soft tissue hypertrophy of the extremity. We present the case of an 18 year old female patient with KTWS, showing a marked rectosigmoid wall thickening and phlebolith, and also variable sized cystic masses in the spleen, as a result of vascular malformations.

  12. An Unusual Case Of Urinary Bladder Arteriovenous Malformation

    LENUS (Irish Health Repository)

    Gnanappiragasam, D

    2016-07-01

    A 45-year-old male presented with haematuria and urinary frequency. Computed Tomography (CT) urogram revealed gross thickening of the left bladder wall. Histology showed large vessels cuffed by eosinophonilic material suggestive of urinary bladder arteriovenous malformation (AVM). No further intervention was carried out as symptoms resolve after the resection. Follow up rigid cystoscopy and CT at 3 months showed resolution of all visible pathology and no evidence of recurrence.

  13. Simultaneous and sequential hemorrhage of multiple cerebral cavernous malformations: a case report.

    Science.gov (United States)

    Louis, Nundia; Marsh, Robert

    2016-02-09

    The etiology of cerebral cavernous malformation hemorrhage is not well understood. Causative physiologic parameters preceding hemorrhagic cavernous malformation events are often not reported. We present a case of an individual with sequential simultaneous hemorrhages in multiple cerebral cavernous malformations with a new onset diagnosis of hypertension. A 42-year-old white man was admitted to our facility with worsening headache, left facial and tongue numbness, dizziness, diplopia, and elevated blood pressure. His past medical history was significant for new onset diagnosis of hypertension and chronic seasonal allergies. Serial imaging over the ensuing 8 days revealed sequential hemorrhagic lesions. He underwent suboccipital craniotomy for resection of the lesions located in the fourth ventricle and right cerebellum. One month after surgery, he had near complete resolution of his symptoms with mild residual vertigo but symptomatic chronic hypertension. Many studies have focused on genetic and inflammatory mechanisms contributing to cerebral cavernous malformation rupture, but few have reported on the potential of hemodynamic changes contributing to cerebral cavernous malformation rupture. Systemic blood pressure changes clearly have an effect on angioma pressures. When considering the histopathological features of cerebral cavernous malformation architecture, changes in arterial pressure could cause meaningful alterations in hemorrhage propensity and patterns.

  14. CT, MRI and MRA of cerebrovascular malformations (report of 16 cases)

    International Nuclear Information System (INIS)

    Ding Qingguo; Hu Chunhong; Guo Liang; Ding Yi

    2000-01-01

    Objective: To evaluate the value of CT, MRI and MRA in cerebrovascular malformations. Methods: 16 cases of cerebrovascular malformations were confirmed by angiography and pathology, including 12 cases of arteriovenous malformations, 4 cases of cavernous angiomas. All of these cases were performed with CT, MRI non-contrast scan and 3D-TOF MRA. Results: CT appearances of AVM were mixed density with hypo-density, iso-density or hyper-density. Some had calcification or acute hemorrhage. MRI scan showed the dilated and tortuous nidus of AVMs on T 1 WI and T 2 WI. The appearances of hemorrhage were variable. Feeding arteries and draining veins were showed clearly on MRA. The typical sign of cavernous angiomas was mixed signals with hypointensity ring on MRI, while MRA could not provide much information. Conclusions: CT, MRI and MRA had different value in diagnosis of cerebrovascular malformations. CT combined with MRI and MRA could sharply improve the accuracy of diagnosis, and aid in the comprehensive evaluation of cerebrovascular malformations

  15. Multiple cavernous malformations presenting in a patient with Poland syndrome: A case report

    Directory of Open Access Journals (Sweden)

    De Salles Antonio AF

    2011-09-01

    Full Text Available Abstract Introduction Poland syndrome is a congenital disorder related to chest and hand anomalies on one side of the body. Its etiology remains unclear, with an ipsilateral vascular alteration (of unknown origin to the subclavian artery in early embryogenesis being the currently accepted theory. Cavernous malformations are vascular hamartomas, which have been linked to a genetic etiology, particularly in familial cases, which commonly present with multiple lesions. Our case report is the first to describe multiple cavernous malformations associated with Poland syndrome, further supporting the vascular etiology theory, but pointing to a genetic rather than a mechanistic factor disrupting blood flow in the corresponding vessels. Case presentation A 41-year-old Caucasian man with Poland syndrome on the right side of his body presented to our hospital with a secondary generalized seizure and was found to have multiple cavernous malformations distributed in his brain, cerebellum, and brain stem, with a predominance of lesions in the left hemisphere. Conclusion The distribution of cavernous malformations in the left hemisphere and the right-sided Poland syndrome in our patient could not be explained by a mechanistic disruption of one of the subclavian arteries. A genetic alteration, as in familial cavernous malformations, would be a more appropriate etiologic diagnosis of Poland syndrome in our patient. Further genetic and pathological studies of the involved blood vessels in patients with Poland syndrome could lead to a better understanding of the disease.

  16. DMBT1 expression distinguishes anorectal from cutaneous melanoma

    DEFF Research Database (Denmark)

    Helmke, Burkhard Maria; Renner, Marcus; Poustka, Annemarie

    2009-01-01

    tumours 1 (DMBT1) in cases of primary anorectal malignant melanoma and CM. METHODS AND RESULTS: Expression analyses of classical immunohistochemical markers (S100, HMB45, Melan A and MiTF) and of the protein DMBT1 were carried out in 27 cases of primary anorectal malignant melanoma and 26 cases of CM. All...

  17. [Influential factors on congenital gastrointestinal malformation:a hospital-based case-control study].

    Science.gov (United States)

    Jiang, Xuejin; Xu, Guang; Shen, Lijun; Wu, Jing; Chen, Hui; Wang, Youjie

    2014-01-01

    To investigate the influential factors on congenital gastrointestinal malformation and to provide evidences for prevention. A hospital-based case-control study was conducted among infants with or without congenital gastrointestinal malformation at Children's hospital of Hunan province, from April 2011 to August 2012. Parents of 120 cases with congenital gastrointestinal malformation and another 170 controls were asked to fill in a questionnaire. Data was analyzed using SPSS 18.0 software. Congenital gastrointestinal malformation was associated with intakes of maternal medication (OR = 3.35, 95%CI:1.51-7.41) and folic acid (OR = 0.28, 95%CI:0.15-0.52), exposure to paints (OR = 5.05, 95%CI:1.32-19.29) and pesticides (OR = 15.20, 95%CI:1.55-148.99) prior to or during pregnancy, and also associated with medication intake of the father (OR = 3.70, 95% CI:1.13-12.10), smoking (OR = 2.39, 95% CI:1.24-4.62), drinking alcohol (OR = 2.47, 95% CI:1.20-5.07), exposure to the agents for indoor cleaning (OR = 16.42, 95% CI:1.71-157.92) and exposure to paints (OR = 9.92, 95% CI:2.66-36.98) before conception. Congenital gastrointestinal malformation was affected by multiple factors. Potential risk factors for congenital gastrointestinal malformation would include intakes of medication by the pregnant mother, exposure to paints exposure and pesticide exposure before or during pregnancy, and medication intake by the father, smoking, drinking alcohol, exposure to indoor cleaning agents/paint before conception. The amount of folic acid intake by mother before or during pregnancy was likely to reduce the risk for congenital gastrointestinal malformation.

  18. Patterns and outcome of surgical management of anorectal ...

    African Journals Online (AJOL)

    Background: Anorectal malformations (ARM) are common congenital abnormalities in most parts of the world and its management remains a challenge to surgeons practicing in resource-limited setting such as Tanzania. This study aimed to determine the patterns and outcome of surgical management of ARM at a ...

  19. [Papillary oedema revealing Arnold Chiari malformation type 1: about a case].

    Science.gov (United States)

    Imane, Mouhoub; Asmae, Maadane; Toufik, Ramdani; Rachid, Sekhsoukh

    2016-01-01

    Arnold Chiari malformation type 1 is defined as a herniation of the cerebellar tonsils into the foramen magnum of more than 5 mm. Symptoms are most commonly dominated by occipital headache, torticollis and sometimes swallowing disorders. Ophthalmologically abnormal convergences, oculomotor palsy and diplopia are the main clinical signs. We report the case of a 9 year old child, who presented with visual loss evolving since 6 months. Ophthalmologic examination showed visual acuity of 4/10 in both eyes, retained ocular motility and rotational nystagmus. The examination of the anterior segment of the eye showed megalocornea with no evidence of goniodysgenesis, iridodonesis associated with atrophy of the dilator muscle and microcoria with lazy photomotor reflex. Normal intraocular pressure was 14 mmHg. Ocular fundus examination, despite difficulties in performing it, objectified bilateral papilledema (stage II). General physical examination showed torticollis, scoliosis and a tetra-pyramidal syndrome. MRI showed Chiari malformation type I associated with hydrocephalus and syringomyelia. Neurosurgical intervention based on internal CSF drainage with occipitocervical osteo-dural decompression was proposed. The evolution was favorable with regression of clinical signs. Ophthalmologically, there was a regression of papilledema but visual acuity remained stationary. The occurrence of papilledema associated with Chiari malformation type 1 is rare, it has been only reported in 2% of symptomatic patients. Its pathophysiology is still poorly understood. The originality of our study consists in the association of cerebellar malformations with ocular malformations including megalocornea and microcoria which make ophthalmologic examination more difficult to perform.

  20. [A nasal congenital malformation not published in the literature: About 5 cases].

    Science.gov (United States)

    Colson, T R; Bertrand, B; Degardin, N; Bardot, J; Casanova, D

    2017-02-01

    Five cases of the same congenital malformation of the nose, affecting the nasal dorsum and the supra-tip, were supported in our university plastic surgery center. This malformation has not been described in the literature known to the authors. The aim of this study is to analyze this nasal deformity. Five children presented this congenital deformity between 1994 and 2014. The patients were examined and the malformation precisely described. Genetic and histological examinations were carried on. The diagnosis and treatment of this pathology were discussed. This malformation associated 4 anomalies: hypertrophy of soft tissue of the dorsum located in the middle third of the nasal bridge, deformed alar cartilages turned back downward and outside, advanced support default and median skin brand similar to a scar. These patients showed no other abnormalities of the midline or respiratory disorders. No genetic disorder was found for these five patients, and no histological arguments were found. Three patients were operated, one until adulthood with a satisfying cosmetic result. Bibliographic research has not allowed us to make an accurate diagnosis of this malformation that appears to be non-syndromic and to have a genetic origin. Our therapeutic approach became more clear and it now seems legitimate to propose early excision of fat mass to prevent alar deformations, associated with a cortico-cancellous graft, which in our experience grows with age, to support the tip. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  1. Fetal magnetic resonance imaging. Diagnostics in cases of congenital cystadenomatoid malformation

    International Nuclear Information System (INIS)

    Buesing, K.A.; Kilian, A.K.; Neff, K.W.; Schaible, T.

    2006-01-01

    Despite advancing therapeutic strategies, congenital cystadenomatoid malformation of the fetal lung is still a potentially life-threatening anomaly. Antenatally, the development of hydrops as well as the natural history of the malformation is of particular therapeutic and prognostic importance. Postnatally, respiratory distress due to pulmonary hypoplasia counts as a crucial limiting factor. Owing to its feasibility and practicability, as well as a high sensitivity, antenatal ultrasound is still the screening method of choice for the detection of fetal thoracic malformations. However, particularly in cases of indistinguishable sonographic findings, fetal MRI is the modality of choice for proving the diagnosis and preliminary appraisal of intensive care therapy and extracorporal membrane oxygenation postnatally. Furthermore, fetal MRI often facilitates assessment and planning of intrauterine surgical procedures. These two features frequently require a close transfer to an expert neonatal centre. (orig.) [de

  2. Giant congenital malformation of the perirectal plexus in computed tomography imaging – case report

    International Nuclear Information System (INIS)

    Kędzierski, Bartłomiej; Nowak, Grzegorz; Kuśmierska, Małgorzata; Jaźwiec, Przemysław; Szuba, Andrzej

    2013-01-01

    Congenital arteriovenous malformation (AVM) in the pelvic area is uncommon in males. The described case is of a giant lesion of this type that caused recurrent hemorrhaging in the lower part of the gastrointestinal tract. Preliminary diagnosis of vascular pathology was made on the basis of an endoscopic examination that revealed numerous pulsating protuberances of the rectal wall, in which blood flow was identified by means of transrectal ultrasonography. Complementing the diagnostics with a CT revealed a considerable extent of malformation, as well as its morphology and anatomical relations with the surrounding tissues. Following a two-year follow-up period, the malformation did not progress or demonstrate any intensification of clinical symptoms, therefore the patient continues to undergo conservative treatment

  3. Intrauterine exposure to carbamazepine and specific congenital malformations : systematic review and case-control study

    NARCIS (Netherlands)

    Jentink, Janneke; Dolk, Helen; Loane, Maria A.; Morris, Joan K.; Wellesley, Diana; Garne, Ester; de Jong-van den Berg, Lolkje

    2010-01-01

    Objective To identify specific major congenital malformations associated with use of carbamazepine in the first trimester of pregnancy. Design A review of all published cohort studies to identify key indications and a population based case-control study to test these indications. Setting Review of

  4. [Vascular malformations in the Williams-Beuren syndrome: report of three new cases].

    Science.gov (United States)

    Sator, Hicham; Rhouni, Fatima Ezzahra; Benjouad, Ibitihale; Rhouni, Fatima Ezzahra; Benjouad, Ibitihale; Dafiri, Rachida; Chat, Latifa

    2016-01-01

    The Williams-Beuren syndrome is a rare genetic disease. It combines classically specific facial dysmorphism, cardiovascular malformations and specific neuropsychological profile. We report three cases of Williams-Beuren syndrome in children with particular emphasis on vascular abnormalities observed on CT angiography and MR angiography.

  5. Splenic arteriovenous malformation manifested by thrombocytopenia in hereditary hemorrhagic telangiectasia: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Kwon, Hee Jin; Choi, Jong Cheol; Oh, Jong Yeong; Cho, Jin Han; Kang, Myong Jin; Lee, Jin Hwa; Yoon, Seong Kuk; Nam, Kyeong Jin [College of Medicine, Dong-A University, Busan (Korea, Republic of)

    2008-09-15

    Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant inherited disease characterized by epistaxis, telangiectases and visceral arteriovenous malformations (AVMs). The involvement of the gastrointestinal tract, liver, lung and cerebrum for HHT has been described, whereas little is known about AVMs of the spleen. We report here the radiological findings of a case of a splenic AVM manifested by thrombocytopenia in HHT.

  6. Splenic arteriovenous malformation manifested by thrombocytopenia in hereditary hemorrhagic telangiectasia: a case report

    International Nuclear Information System (INIS)

    Kwon, Hee Jin; Choi, Jong Cheol; Oh, Jong Yeong; Cho, Jin Han; Kang, Myong Jin; Lee, Jin Hwa; Yoon, Seong Kuk; Nam, Kyeong Jin

    2008-01-01

    Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant inherited disease characterized by epistaxis, telangiectases and visceral arteriovenous malformations (AVMs). The involvement of the gastrointestinal tract, liver, lung and cerebrum for HHT has been described, whereas little is known about AVMs of the spleen. We report here the radiological findings of a case of a splenic AVM manifested by thrombocytopenia in HHT

  7. The multiple brain abscesses associated with congenital pulmonary arteriovenous malformations: a case report.

    OpenAIRE

    Han, Seok; Lim, Dong-Jun; Chung, Yong-Gu; Cho, Tai-Hyoung; Lim, Seong-Jun; Kim, Woo-Jae; Park, Jung-Yul; Suh, Jung-Keun

    2002-01-01

    In this report, we describe a case of multiple brain abscesses associated with diffuse congenital pulmonary arteriovenous malformations (PAVM). Although the cases of brain abscesses associated with congenital PAVM are very rare, the brain abscess could be an initial clinical manifestation in asymptomatic PAVM as in the case presented in this report. PAVM may contribute to the development of a brain abscess by allowing easy bacterial access to systemic circulation through the right-to-left pul...

  8. Common anorectal disorders.

    Science.gov (United States)

    Foxx-Orenstein, Amy E; Umar, Sarah B; Crowell, Michael D

    2014-05-01

    Anorectal disorders result in many visits to healthcare specialists. These disorders include benign conditions such as hemorrhoids to more serious conditions such as malignancy; thus, it is important for the clinician to be familiar with these disorders as well as know how to conduct an appropriate history and physical examination. This article reviews the most common anorectal disorders, including hemorrhoids, anal fissures, fecal incontinence, proctalgia fugax, excessive perineal descent, and pruritus ani, and provides guidelines on comprehensive evaluation and management.

  9. Case-control study of congenital malformations and occupational exposure to low-level ionizing radiation

    International Nuclear Information System (INIS)

    Sever, L.E.; Gilbert, E.S.; Hessol, N.A.; McIntyre, J.M.

    1988-01-01

    In a case-control study, the authors investigated the association of parental occupational exposure to low-level external whole-body penetrating ionizing radiation and risk of congenital malformations in their offspring. Cases and controls were ascertained from births in two counties in southeastern Washington State, where the Hanford Site has been a major employer. A unique feature of this study was the linking of quantitative individual measurement of external whole-body penetrating ionizing radiation exposure of employees at the Hanford Site, using personal dosimeters, and the disease outcome, congenital malformations. The study population included 672 malformation cases and 977 matched controls from births occurring from 1957 through 1980. Twelve specific malformation types were analyzed for evidence of association with employment of the parents at Hanford and with occupational exposure to ionizing radiation. Two defects, congenital dislocation of the hip and tracheoesophageal fistula, showed statistically significant associations with employment of the parents at Hanford, but not with parental radiation exposure. Neural tube defects showed a significant association with parental preconception exposure, on the basis of a small number of cases. Eleven other defects, including Down syndrome, for which an association with radiation was considered most likely, showed no evidence of such an association. When all malformations were analyzed as a group, there was no evidence of an association with employment of the parents at Hanford, but the relation of parental exposure to radiation before conception was in the positive direction (one-tailed p value between 0.05 and 0.10). Given the number of statistical tests conducted, some or all of the observed positive correlations are likely to represent false positive findings. 30 references

  10. Congenital pouch colon: Increasing association with low anorectal anomalies

    Directory of Open Access Journals (Sweden)

    Pavai Arunachalam

    2009-01-01

    Full Text Available Three cases of type IV congenital pouch colon associated with low anorectal anomaly are reported here. Pouch colon may be a cause of intractable constipation in children operated for low anorectal anomaly. Excellent results can be obtained by exicision of the pouch. The radiological and pathological features of this condition are discussed.

  11. An Unusual Case of Heteropagus: Autosite With a Complex Cardiac Malformation

    Directory of Open Access Journals (Sweden)

    Hulya Ozkan-Ulu

    2011-12-01

    Full Text Available Asymmetrical form of conjoined twinning (heteropagus is an extremely rare event with an incidence of 1–2 million live births. The incomplete component of heteropagus, namely, parasite, usually consists of rudimentary organs. Therefore, the autosite component of heteropagus can be separated successfully. A wide spectrum of associated congenital cardiac malformations, which are usually minor, has been described in autosites. However, a single-ventricle heart anomaly in the autosite has been reported in a very few cases. We report an unusual case of heteropagus with a complex cardiac malformation. To the best of our knowledge, this is the third heteropagus case in the literature with a single-ventricle heart in the autosite.

  12. Parenteral exposure to pesticides and occurence of congenital malformations: hospital-based case-control study.

    Science.gov (United States)

    Ueker, Marly Eliane; Silva, Vivianne Monteiro; Moi, Gisele Pedroso; Pignati, Wanderley Antonio; Mattos, Ines Echenique; Silva, Ageo Mário Cândido

    2016-08-12

    Most fetal defects are associated with genetic and environmental causes, among them, exposure of pregnant women to intensive pesticide use. Agribusiness is the economic basis of the state of Mato Grosso, the largest consumer of pesticides of all Brazilian states. The objective of this study was to investigate the association between past parental exposure to pesticides and the occurrence of congenital malformations in children in Mato Grosso, Brazil. This hospital-based case-control study was conducted in Cuiabá, the capital of Mato Grosso, from March to October 2011. Data was collected in all public, private, and health plan referral hospitals that provide care for pregnant women in the state of Mato Grosso and were situated in Cuiabá. Cases were children under 5 years of age with congenital malformations classified in Chapter XVIII of the International Classification of Diseases-10 and controls were children within the same age range, without congenital malformations, treated at the same hospitals. Malformation-related data was obtained from the patients' medical records. Socioeconomic data and information about parental exposure to pesticides were obtained in an interview with the mother using a standardized questionnaire. We conducted multivariate logistic regression to assess the relation between parent report of past pesticide use and congenital malformations. We also assessed effect modification to verify whether low maternal education level modified the association between exposure and our outcome. We observed positive effect modification of the association of paternal past exposure to pesticide and congenital malformation in the offspring by maternal education for mothers with low educational level (OR = 8.40, 95 % CI 2.17-32.52), father's work related to farming (OR = 4.65, 95 % CI 1.03-20.98) and paternal past exposure to pesticides (OR = 4.15, 95 % CI 1.24-13.66). These findings provide further evidence that paternal exposure to

  13. Congenital ossicular chain malformations with mobile stapes in children: Results in 17 cases.

    Science.gov (United States)

    Vincent, Robert; Wegner, Inge; Derks, Laura S M; Grolman, Wilko

    2016-03-01

    To prospectively evaluate surgical findings and hearing results in children undergoing surgery for congenital malformations of the ossicular chain with a mobile stapes footplate (Teunissen and Cremers class III malformations). A nonrandomized, nonblinded, prospective case series. Fifteen consecutive pediatric patients who underwent 17 surgical procedures for congenital ossicular malformations with a mobile stapes at a tertiary referral center were included. In 16 cases, postoperative pure-tone audiometry was available. The surgical technique for repair of the ossicular chain was dictated by the surgical findings at the time of surgery. The majority of the cases underwent ossiculoplasty. A Teflon piston, partial ossicular replacement prosthesis, or total ossicular replacement prosthesis was used in these cases. Associated surgical techniques included malleus relocation, Silastic banding, drilling out of a bony bridge, and a combination of these techniques. Hearing loss was evaluated using preoperative and postoperative four-frequency (0.5, 1, 2, and 4 kHz) audiometry. Air-conduction thresholds, bone-conduction thresholds, and air-bone gaps were measured. Postoperative audiometry was performed at 3, 6, 9, 12, 18, and 24 months after surgery and at a yearly interval thereafter. Overall, a postoperative air-bone gap closure to 10 dB or less was achieved in 63% of the included cases. A postoperative air-bone gap closure to 20 dB or less was achieved in 75%. Postoperative sensorineural hearing loss did not occur in any of the cases. Ossicular reconstruction is a feasible treatment option in children with congenital malformations of the ossicular chain with a mobile stapes footplate. 4. Laryngoscope, 126:682-688, 2016. © 2015 The American Laryngological, Rhinological and Otological Society, Inc.

  14. Mandibular Arteriovenous Malformation in an 8-year-old Child: A Case Report.

    Science.gov (United States)

    Rudagi, B M; Patil, Sudha; Hammannavar, Reshma; Jaiswal, Tejus

    2016-01-01

    Arteriovenous (AV) malformation is a congenital vascular anomaly in which there is an abnormal connection between the arterial and venous system resulting from developmental arrest during embryogenesis. In children, they are rare and potentially life-threatening. In the present case, an 8-year-old male patient presented with a simple gingival swelling associated with mobility of the corresponding teeth, which appeared relatively simple to excise but had an AV malformation associated with it. Timely diagnosis and investigations revealed its presence and hence prevented a catastrophy from occurring. Conventional method of surgical ligation of the external carotid artery was done as an emergency procedure and surgical resection was done without compromising the associated anatomic structures. This procedure helped control the bleeding as well as achieved an uneventful healing. This case report intends to create an awareness among Pediatric Dentists regarding the condition and thereby preventing an uncontrolled and unmanageable hemorrhage occurring in the Dental Office.

  15. A case report of Ggeneralized uterine arteriovenous malformation after molar pregnancy in an infertile woman

    Directory of Open Access Journals (Sweden)

    Firoozeh Ahmadi

    2018-02-01

    Full Text Available Background: Uterine arteriovenous malformation (UAVM is a rare vascular condition in reproductive age presented mostly with bleeding. Although this malformation is infrequent, it is potentially life-threatening. Transvaginal Doppler ultrasonography is a widely available, noninvasive and excellent diagnostic method. Case: The case is a 30-yr-old woman with a history of eight-yr infertility.following intrauterine insemination treatment, she had a molar pregnancy. Despite methotrexate treatment, there was persistent vaginal bleeding. Assessment of this patient was done with transvaginal sonography and color Doppler. According to suspicious appearances, angiography was planned for confirmation of UAVM. Conclusion: UAVM is one of the molar pregnancy complications. The first step for diagnosis of UAVM is transvaginal ultrasonography and color Doppler assessment. Embolization is the best treatment for women who intend to preserve fertility.

  16. Functional evaluation of the anorectal region

    International Nuclear Information System (INIS)

    Pomerri, F.; Curtolo, S.; Muzzio, P.C.; Pittarello, F.; Dodi, G.

    1991-01-01

    Defecography is a method allowing the morphodynamic evaluation of the anorectal region. The technique needs two complementary times: 'phase' defecography and dynamic defecography. In the series of patients affected with severe constipation, 2 groups could be identified. Group A included those patients (mean age: 38.7 years) in whom no significant changes were observed in anorectal angle from pubococcygeal line in comparison with normal subjects (student's t-test). Group B included those patients (mean age : 63.3 years) in whom significant reduction was observed in anorectal angle on straining, together with increased distance of anorectal angle from pubococcygeal line on squeezing in comparison with normal subjects (Students t-test). In constipated patients narrowed anal canal was observed (60%), together with rectocele (42.6%), mucosal prolapse (27.8%), rectal prolapse (18%) and solitary ulcer (14.7%). In idiopathic incontonence patients (mean age: 63.3 years), increased distance was observed of anorectal angle from pubococcygeal line on squeezing, in the most severe cases, even at rest, with the patient sitting (Student's t-test). In incontinent patients larger anal canal was observed (67.6%), together with rectocele (36.7%), mucosal prolapse (14.7%), and rectal prolapse (11.7%)

  17. Congenital pulmonary airway malformation with mucoepidermoid carcinoma: A case report and review of literature

    Directory of Open Access Journals (Sweden)

    Narayanappa Harini

    2012-01-01

    Full Text Available Congenital cystic adenomatoid malformations (CCAM are rare developmental anomalies of the lung characterized by cysts of varying sizes and/or adenomatoid proliferation. Type I CCAM, the most frequent subtype, is associated with an increased incidence of malignant transformation, principally bronchioloalveolar carcinoma, with a reported incidence of around 1%. We report the first case of mucoepidermoid carcinoma arising in a type 1 CCAM.

  18. Supernumerary Kidney Associated with Horseshoe Malformation: A Case Report and Review of Literature

    Directory of Open Access Journals (Sweden)

    Hassan Jamshidian

    2017-02-01

    Full Text Available We report a case of supernumerary kidney associated with horseshoe malformation. A 35-year-old man presented complaining of vague and intermittent left flank pain from few months ago. Ultrasonography of urinary tract showed bilateral hydronephrosis and was suggestive of the horseshoe anomaly. Further evaluation with Intravenous urography showed three renal moieties consisting of a horseshoe kidney and a malrotated right kidney cephalad to and fused with the right moiety of horseshoe kidney.

  19. High-output cardiac failure secondary to multiple vascular malformations in the liver: case report

    International Nuclear Information System (INIS)

    Spaner, S.; Demeter, S.; Lien, D.; Shapiro, J.; McCarthy, M.; Raymond, G.

    2001-01-01

    High-output cardiac failure is associated with several systemic illnesses, including hyperthyroidism, thiamine deficiency, severe anemia, multiple myeloma, Paget's disease of bone and Osler-Weber-Rendu syndrome. We present an unusual case of a woman with high-output cardiac failure as a result of multiple arteriovenous fistulas in the liver, most likely representing an unusual variant of Osler-Weber-Rendu syndrome (i.e., no other telangiectasias or a family history of vascular malformations was demonstrated). (author)

  20. Radiosurgery for cerebral arteriovenous malformation during pregnancy: A case report focusing on fetal exposure to radiation

    OpenAIRE

    Nagayama, Kazuki; Kurita, Hiroki; Tonari, Ayako; Takayama, Makoto; Shiokawa, Yoshiaki

    2010-01-01

    Introduction: We present the case of a pregnant woman who underwent linear accelerator (LINAC)-based stereotactic radiosurgery (SRS) and we discuss the fetal exposure to radiation. Clinical Presentation: A 20-year-old woman at 18 weeks of gestation presented with right cerebral hemorrhage and underwent urgent evacuation of the hematoma. She recovered well after surgery, but cerebral angiography after the surgery revealed a small deeply seated arteriovenous malformation (AVM) in the right fron...

  1. Fetal lung interstitial tumor: the first Japanese case report and a comparison with fetal lung tissue and congenital cystic adenomatoid malformation/congenital pulmonary airway malformation type 3.

    Science.gov (United States)

    Yoshida, Mariko; Tanaka, Mio; Gomi, Kiyoshi; Iwanaka, Tadashi; Dehner, Louis P; Tanaka, Yukichi

    2013-10-01

    Fetal lung interstitial tumor, a newly recognized lung lesion in infants, was first reported in 2010. Here, we report the first Japanese case of fetal lung interstitial tumor which was originally diagnosed as atypical congenital cystic adenomatoid malformation/congenital pulmonary airway malformation type 3. A 7-day-old girl was referred to our hospital with respiratory distress and a left lung mass and she subsequently underwent left lower lobectomy. The specimen showed a 5 cm solid mass with a fibrous capsule. Histological examination revealed immature airspaces and interstitium, containing bronchioles and cartilage. The epithelial and interstitial cells contained abundant glycogen granules. Immunohistochemistry showed nuclear/cytoplasmic expression of β-catenin in the epithelial and interstitial cells. β-catenin gene mutations and trisomy 8 were not detected, so a neoplastic origin could not be confirmed. The histological findings were partly consistent with normal fetal lung at the canalicular stage, pulmonary interstitial glycogenosis, and congenital cystic adenomatoid malformation/congenital pulmonary airway malformation type 3. In this report, we compare the above conditions and discuss the pathogenesis of fetal lung interstitial tumor. © 2013 The Authors. Pathology International © 2013 Japanese Society of Pathology and Wiley Publishing Asia Pty Ltd.

  2. [Progressive bone lengthening of the hand in congenital malformations. 41 cases].

    Science.gov (United States)

    Foucher, G; Pajardi, G; Lamas, C; Medina, J; Navarro, R

    2001-09-01

    We retrospectively reviewed the experience of two Hand Units with progressive bone distraction lengthening, collecting 41 cases of hand skeleton lengthening for congenital malformations. The Ilizarov callostasis method was used in 31 cases and in 10 cases bone union was reestablished at a second stage with an iliac graft (2 cases), vascularized metacarpal bone graft (one case), and vascularized (one case) or nonvascularized (3 cases) toe epiphysis. In the last three cases of index lengthening, the distal part was translocated to the tip of the third, deepening at the same stage the first web. The most frequently treated malformation was symbrachydactyly (22 cases). Mean lengthening was 2.3 cm (0.9 to 3.5) with a mean treatment duration of 3.8 months (1.5 - 8.2). The "lengthening index" was 0.59. There was a significant difference between phalanx and metacarpal lengthening, but the amount of lengthening or treatment duration were not affected by technique (Ilizarov vs bone grafting) or age. The complication rate was 32%. There were two complete failures, one extensor tendon tear, 3 pin tract infections (one requiring interruption of the lengthening), 2 cases of relevant pain, 2 delayed unions, 2 angulations and 1 callus fracture, 1 metacarpophalangeal dislocation and 1 joint stiffness. Despite advances in micorsurgical toe transfer, there are still indications for bone lengthening in congenital malformations. The apparent simplicity of the technique can mask a certain number of complications, emphasizing the need for surgical experience. Progressive bone lengthening in congenital deformity has the advantage of preserving sensitivity and avoiding bone resorption. Callostasis does not increase the duration of treatment compared to bone graft.

  3. The currarino triad of anorectal, sacral, and presacral anomalies

    International Nuclear Information System (INIS)

    Kim, Jong Chul; Yeon, Kyung Mo

    1986-01-01

    The Currarino triad is a unique complex of congenital anomalies including anorectal including anorectal malformation, scral bony abnormality, and presacral mass. The usual symptomatology is constipation due to anorectal stenosis. Three patients with this triad confirmed by surgical operation during recent two years in Seoul National University Children's Hospital were presented with a brief review of clinical features, unique radiologic appearance and postulated pathophysiology. The presacral mass was a mature teratoma in the first patient, a lipomyelomeningocele-epidermoid inclusion cyst in the second patients, and myelomeningocele in the third patient. A correct diagnosis of the Currarino triad by radiologists is important, and may help the physicians to investigate detailed family history and associated anomalies and to establish adequate surgical plans.

  4. [Rare case of congenital cystic adenomatoid malformation associated with polycystic kidney disease].

    Science.gov (United States)

    Jabłoński, Janusz; Jankowski, Zbigniew; Sitkiewicz, Anna; Lewandowska, Małgorzata; Andrzejewska, Ewa

    2011-01-01

    Congenital cystic adenomatoid malformation (CCAM) is a rare pulmonary abnormality that results from aberrant fetal lung development. It about 4-26% of cases it can be associated with other congenital abnormalities. We describe a case of congenital cystic adenomatoid malformation 2 associated with polycystic kidney disease. The association of these two congenital malformations is exceptional. Only four similar cases have been reported in the literature. A 2-year-old girl was referred to the Department of Paediatric Surgery and Oncology Medical University of Lodz with pneumonia and left pneumothorax. For three weeks prior to referral the patient was treated with antibiotics. Chest x-ray revealed hyperinflation of left upper lobe with mediastinal shift to right. Computer tomographic scan of the lung revealed multiple cyst in the left upper lobe, left-site pneumothorax and mediastinal shift to the right. The patient underwent thoracotomy. Intraoperatively, multiple cysts in the left upper lobe were found and left upper lobectomy was performed. Histologic study was compatible with type 2 congenital cystic adenomatoid malformation. Ultrasound examination showed multilocular cysts in both kidneys. The dimensions of the cysts were: MWR4. 54x45x45 mm and 25x21x24 mm on the left and right sides, respectively. Significant increase in cyst size on the left side was observed. Ten months after first hospitalization resection of the cystic lower pole of the left kidney was performed. The presence of even a single renal cyst in a child with CCAM is an indication for further follow up examinations.

  5. Congenital Lobar Emphysema Associated with Cystic Adenomatoid Malformation Type I: Case Report

    International Nuclear Information System (INIS)

    Morales Riveros, Myriam; Henao, Liliana; Jaramillo B, Lina

    2011-01-01

    Congenital lung abnormalities are a heterogeneous group of alterations in lung development, and many of them are asymptomatic, but is important to know, they must enter the differential diagnosis of patients respiratory distress syndrome. Some of these lesions can coexist, the point where the pulmonary sequestration may present with adenomatoid malformation cystic type II in over 50% of cases. Although the final diagnosis for this histological type of injury is, images play an important role for initial approach. Natural history of these malformations depends lung the size of the lung mass and physiological problem that this causes. The CT multidetector computed expanded knowledge of lung anatomy and improves visualization of the tracheobronchial tree in the pediatric population.

  6. Effects of physiotherapy combined with sirolimus in a patient with vascular malformation: A case report.

    Science.gov (United States)

    Akbayrak, Türkan; Orhan, Ceren; Baran, Emine; Kaya, Serap; Coskun, Gürsoy; Varan, Ali

    2016-01-01

    The aim of the present case report was to investigate the effects of a physiotherapy program combined with sirolimus in a child patient with upper extremity edema and joint limitation due to low-flow vascular malformation. This case report included an 11-year-old male patient (26 kg, 130 cm) diagnosed with congenital lymphovascular malformation on the left and right chest. The patient, who had edema on the upper left extremity and experienced joint limitations, was administered complete decongestive therapy (CDT) and manual therapy in combination with sirolimus. Physiotherapy included a total of 24 sessions, 3 sessions a week for 8 weeks. Following the physiotherapy, the patient was assigned to a home therapy program, and then the maintenance phase of the CDT was initiated. Evaluations were carried out at baseline, at the end of week 8, and after 12 months. Following the physiotherapy program combined with sirolimus, a decrease in extremity volume, an increase in joint movement range, and an improvement in disease-related complaints were observed. Physiotherapy methods combined with sirolimus may be an effective treatment method in patients with vascular malformations. However, further studies with larger sample size are warranted.

  7. [Pyelonephritis with massive renal tissue necrosis in child with urinary tract malformation--a case report].

    Science.gov (United States)

    Pawlak-Bratkowska, Monika; Finke, Daria; Olejniczak, Dariusz; Midel, Anna; Tkaczyk, Marcin

    2009-04-01

    The aim of the case report is presentation of unusual and heavy clinical course of pyelonephritis with renal tissue necrosis in a child with urinary tract malformation. Nine month old girl was admitted to hospital in heavy clinical status due to pyelonephritis--urosepsis. It was complicated by acute renal insufficiency. Patient was treated by broad-spectrum antibiotics and parenteral nutrition. She was feverish for 14 days. Computed tomography done in order to exclude abdominal abscess showed massive renal tissue necrosis of on both sides. Antibiotic treatment was successful after 6 weeks. Urological evaluation revealed bilateral vesico-ureteral refluxes grade IV. Scintigraphy showed multiple scars. Patient was treated Deflux injections (twice). We noted 5 urinary tract recurrences despite antibiotic profilaxis. GFR of 75 ml/min/1.73 m2 was estimated at age of 16 m. Immunodeficiency or malignancy as background of clinical course were excluded. The case we describe presents severe clinical course of pyelonephritis due to complex urinary tract malformation that is to be considered despite based on modern publications "sparing" strategies of diagnosis and profilaxis in urinary tract malformations.

  8. Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report.

    Science.gov (United States)

    Kurian, Mary; Korff, Christian M; Ranza, Emmanuelle; Bernasconi, Andrea; Lübbig, Anja; Nangia, Srishti; Ramelli, Gian Paolo; Wohlrab, Gabriele; Nordli, Douglas R; Bast, Thomas

    2018-01-01

    In this case report we assess the occurrence of cortical malformations in children with early infantile epilepsy associated with variants of the gene protocadherin 19 (PCDH19). We describe the clinical course, and electrographic, imaging, genetic, and neuropathological features in a cohort of female children with pharmacoresistant epilepsy. All five children (mean age 10y) had an early onset of epilepsy during infancy and a predominance of fever sensitive seizures occurring in clusters. Cognitive impairment was noted in four out of five patients. Radiological evidence of cortical malformations was present in all cases and, in two patients, validated by histology. Sanger sequencing and Multiplex Ligation-dependent Probe Amplification analysis of PCDH19 revealed pathogenic variants in four patients. In one patient, array comparative genomic hybridization showed a microdeletion encompassing PCDH19. We propose molecular testing and analysis of PCDH19 in patients with pharmacoresistant epilepsy, with onset in early infancy, seizures in clusters, and fever sensitivity. Structural lesions are to be searched in patients with PCDH19 pathogenic variants. Further, PCDH19 analysis should be considered in epilepsy surgery evaluation even in the presence of cerebral structural lesions. Focal cortical malformations and monogenic epilepsy syndromes may coexist. Structural lesions are to be searched for in patients with protocadherin 19 (PCDH19) pathogenic variants with refractory focal seizures. © 2017 Mac Keith Press.

  9. Renal arteriovenous shunts, fistulae and malformations - angiographic case reports

    International Nuclear Information System (INIS)

    Esser, P.W.; Duex, A.

    1989-01-01

    Individual case reports serve to demonstrate the pathogenetically different renal arteriovenous shunt formations, such as congenital arteriovenous angioma, spontaneous arteriovenous aneurysm, iatrogenic arterio-venous fistula and neoplasia-conditioned arteriovenous fistula. These are discussed in detail, including treatment possibilities. The ranking of digital subtraction angiography is emphasised. Our case reports show that in preoperative diagnosis of pathological structures in the kidney, renovasography is an invaluable tool, especially with i.a. DSA technique, and is superior to all other methods such as sonography, CT, MR and colour-coded Doppler sonography. Due to improved techniques of angiography (markedly lower amounts of contrast medium when using catheters of narrow lumen) indication for i.a. DSA in haematuria of unknown origin should be liberal. Above all, the method should be performed at an early stage. If there is a NAD renal finding in the i.a. DSA renovasogram in renally conditioned haematuria even when using a 1024 x 1024 image matrix, it is advisable to perform selective renal arteriography to either exclude or confirm the existence of an intrarenal angioma, additionally in conventional sheet film technique because of the superior power of resolution. (orig.) [de

  10. Renal anomalies associated with imperforate anus : case reports

    International Nuclear Information System (INIS)

    Nahar, Nurun; Nisa, Lutfun; Alam, F.; Karim, M.A.

    2002-01-01

    Four cases of renal anomaly associated with anorectal malformation are illustrated here. The findings highlight the importance of early diagnosis of renal disorders in the pediatric with congenital anomalies in order to prevent irreversible damage to the kidneys. The high sensitivity of radionuclide diagnostic imaging methods in the early diagnosis of renal disorders and evaluation of renal function in children is emphasized.(author)

  11. Anesthesia management for pregnant patient with Arnold-Chiari malformation type I: A case report

    Directory of Open Access Journals (Sweden)

    Şaban Yalçın

    2012-06-01

    Full Text Available The Arnold-Chiari I malformation (ACM is a congenitalanomaly characterized by downward herniation of thecerebellar tonsils into the spinal canal. The anomaly maypresent in a variety of ways with vague symptoms suchas head and limb pains, vertigo, hypoesthesia, weaknessin the extremities. Diagnosis is often difficult and thereforedelayed. Measurement of intracranial pressure in thesepatients is an important measure thus precautions shoulbe taken for avoidance of increased intracranial pressure.In this case report, we discussed the anesthetic managementof a pregnant patient with Arnold Chiari I malformationwho underwent an emergency caesarean section.

  12. Primary Anorectal Melanoma

    Directory of Open Access Journals (Sweden)

    Maliha Khan

    2014-03-01

    Full Text Available Primary malignant melanoma of the anus and rectum is a rare and aggressive neoplasm that tends to invade locally and metastasize early in the course of the disease. It is often misdiagnosed as hemorrhoids or as one of the other benign anorectal conditions and is thus linked to an overall poor prognosis and a 5-year survival rate of less than 20%. Optimal treatment is still controversial, and current evidence does not show any preferential survival benefit from abdominoperineal resection over wide local excision. Chemotherapy or radiotherapy may be used for advanced disease. We report a 71-year-old female presenting with painful bowel movements and blood in stools. She was eventually found to have a mass arising from the anorectal junction with regional lymph node involvement. The patient underwent an abdominoperineal resection and is currently scheduled for chemotherapy.

  13. A novel malformation complex of bilateral and symmetric preaxial radial ray-thumb aplasia and lower limb defects with minimal facial dysmorphic features: a case report and literature review.

    Science.gov (United States)

    Al Kaissi, Ali; Klaushofer, Klaus; Krebs, Alexander; Grill, Franz

    2008-10-24

    Radial hemimelia is a congenital abnormality characterised by the partial or complete absence of the radius. The longitudinal hemimelia indicates the absence of one or more bones along the preaxial (medial) or postaxial (lateral) side of the limb. Preaxial limb defects occurred more frequently with a combination of microtia, esophageal atresia, anorectal atresia, heart defects, unilateral kidney dysgenesis, and some axial skeletal defects. Postaxial acrofacial dysostoses are characterised by distinctive facies and postaxial limb deficiencies, involving the 5th finger, metacarpal/ulnar/fibular/and metatarsal. The patient, an 8-year-old-boy with minimal craniofacial dysmorphic features but with profound upper limb defects of bilateral and symmetrical absence of the radius and the thumbs respectively. In addition, there was a unilateral tibio-fibular hypoplasia (hemimelia) associated with hypoplasia of the terminal phalanges and malsegmentation of the upper thoracic vertebrae, causing effectively the development of thoracic kyphosis. In the typical form of the preaxial acrofacial dysostosis, there are aberrations in the development of the first and second branchial arches and limb buds. The craniofacial dysmorphic features are characteristic such as micrognathia, zygomatic hypoplasia, cleft palate, and preaxial limb defects. Nager and de Reynier in 1948, who used the term acrofacial dysostosis (AFD) to distinguish the condition from mandibulofacial dysostosis. Neither the facial features nor the limb defects in our present patient appear to be absolutely typical with the previously reported cases of AFD. Our patient expands the phenotype of syndromic preaxial limb malformation complex. He might represent a new syndromic entity of mild naso-maxillary malformation in connection with axial and extra-axial malformation complex.

  14. CEREBRAL CAVERNOUS MALFORMATION COEXISTING WITH PITUITARY ADENOMA, HASHIMOTO THYROIDITIS AND MENTAL ILLNESS: FIRST CASE REPORT.

    Directory of Open Access Journals (Sweden)

    Sara Guido

    2017-10-01

    Full Text Available Cerebral Cavernous Malformations (CCMs are vascular lesions involving brain capillaries. They may occur sporadically or be inherited as autosomal dominant character. Due to incomplete penetrance, CCMs incidence is underestimated and, overall sporadic cases, are often accidentally diagnosed. Rarely CCMs are linked to other pathological conditions. Here we present the first case in literature of a young woman affected by sporadic CCM, pituitary adenoma, Hashimoto thyroiditis and mental illness of unknown etiology. Symptoms’ analysis suggests that she may suffer of Hashimoto encephalopathy (HE, a condition that in very few cases develops together with Hashimoto thyroiditis. Genetic bases of HE are still unknown and symptomatology is very heterogeneous. This paper is a preliminary report of the case and is focused on complexity of clinical manifestations that makes the diagnosis uncertain. If our hypothesis will be confirmed by further analysis, our aim will be to clarify genetic causes of HE.

  15. Intrauterine exposure to carbamazepine and specific congenital malformations: systematic review and case-control study

    DEFF Research Database (Denmark)

    Jentink, Janneke; Dolk, Helen; Loane, Maria A

    2010-01-01

    To identify specific major congenital malformations associated with use of carbamazepine in the first trimester of pregnancy.......To identify specific major congenital malformations associated with use of carbamazepine in the first trimester of pregnancy....

  16. Anorectal and Pelvic Pain.

    Science.gov (United States)

    Bharucha, Adil E; Lee, Tae Hee

    2016-10-01

    Although pelvic pain is a symptom of several structural anorectal and pelvic disorders (eg, anal fissure, endometriosis, and pelvic inflammatory disease), this comprehensive review will focus on the 3 most common nonstructural, or functional, disorders associated with pelvic pain: functional anorectal pain (ie, levator ani syndrome, unspecified anorectal pain, and proctalgia fugax), interstitial cystitis/bladder pain syndrome, and chronic prostatitis/chronic pelvic pain syndrome. The first 2 conditions occur in both sexes, while the latter occurs only in men. They are defined by symptoms, supplemented with levator tenderness (levator ani syndrome) and bladder mucosal inflammation (interstitial cystitis). Although distinct, these conditions share several similarities, including associations with dysfunctional voiding or defecation, comorbid conditions (eg, fibromyalgia, depression), impaired quality of life, and increased health care utilization. Several factors, including pelvic floor muscle tension, peripheral inflammation, peripheral and central sensitization, and psychosocial factors, have been implicated in the pathogenesis. The management is tailored to symptoms, is partly supported by clinical trials, and includes multidisciplinary approaches such as lifestyle modifications and pharmacological, behavioral, and physical therapy. Opioids should be avoided, and surgical treatment has a limited role, primarily in refractory interstitial cystitis. Copyright © 2016 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.

  17. A rare condition of anorectal dysfunction in a patient with multiple sclerosis: Coexistence of faecal incontinence and mechanical constipation: Report of case.

    Science.gov (United States)

    Dandin, Özgür; Akpak, Yaşam Kemal; Karakaş, Dursun Özgür; Hazer, Batuhan; Ergin, Tuncer; Dandinoğlu, Taner; Teomete, Uygar

    2014-01-01

    Multiple sclerosis is a chronic demyelinating neurological disease and causing a variety of neurological symptoms, including discomfort of anorectal function. Constipation and faecal incontinence present as anorectal dysfunction in MS and anal manometry, colonic transit time, electromyography, and defecography can be used for assessment. We presented a thirty-three years old woman with rare condition of anorectal dysfunction in multiple sclerosis. Anal manometry, defecography were done, and synchronously anal incontinence and mechanical constipation due to rectocele and anismus were detected in this patient. Although anal incontinence and constipation are seen often in patients with multiple sclerosis, in the literature, coexistence of animus, rectocele and anal incontinence are quite rare. Defecography and anal manometry are useful diagnostic methods for demonstration of anorectal dysfuntions in patients with MS. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

  18. A Case of Congenital Uterine Arterio-Venous Malformation Managed by Hysterectomy

    International Nuclear Information System (INIS)

    Bhoil, Rohit; Raghuvanshi, Vandana; Basavaiah, Suhas

    2015-01-01

    A uterine arteriovenous malformation (AVM) is a rare cause of uterine bleeding. It may have varied presentations ranging from being completely asymptomatic; to features of congestive heart failure to vaginal bleeding which may at times life be threatening. Clinical findings in such cases are often un-reliable; requiring a high index of suspicion to make the diagnosis. Sonographic gray scale features are non-specific requiring confirmation with colour and spectral Doppler. We report a case of a 46-year-old lady who presented with heavy vaginal bleeding and ultrasound/colour Doppler evidence of uterine AVM managed by abdominal hysterectomy, describing the imaging features on ultrasound and Doppler. We also discuss in brief about this uncommon but serious condition which the radiologist/gynaecologist may encounter in thier practise. Uterine AV Malformation is a rare but potentially life-threatening cause of menorrhagia which must be kept in the differential diagnosis of sudden and massive vaginal bleeding. Ultrasound remains the modality of choice in diagnosing the condition which requires a high index of clinical suspicion. Color and spectral Doppler ultrasound should be used to supplement the findings and to confirm the diagnosis

  19. Hobnail hemangioma reclassified as superficial lymphatic malformation: a study of 52 cases.

    Science.gov (United States)

    Trindade, Felicidade; Kutzner, Heinz; Tellechea, Óscar; Requena, Luis; Colmenero, Isabel

    2012-01-01

    Hobnail hemangioma (HH) is currently classified as a benign vascular tumor, although it is not well understood whether this lesion differentiates toward blood or lymphatic endothelial cells. Immunostaining with the endothelial marker Wilms tumor 1 (WT1) helps distinguish between vascular neoplasms and malformations, being positive in the former and negative in the latter. We sought to investigate WT1, human herpesvirus 8 latent nuclear antigen, D2-40, and Ki-67 immunoprofile in HH, to gain further insight into its histogenesis. We evaluated 52 HHs collected in Dermatohistopathologische Gemeinschaftslabor, Friedrichshafen, Germany. Immunohistochemical expression of WT1 was performed in all cases. Ten of 52 lesions were also studied for D2-40 and Ki-67 staining and 12 lesions were stained for human herpesvirus 8 latent nuclear antigen. All 52 HHs were completely negative for WT1 immunostaining. Immunohistochemistry performed in 10 HHs showed diffuse and strong positive staining for D2-40 in 8 lesions and focal positivity in two. All cases tested showed negative staining for Ki-67 and human herpesvirus 8 latent nuclear antigen. There are no limitations. Although the exact histogenesis of HH is unknown, most of the performed immunohistochemical studies support a lymphatic line of differentiation. However, on the basis of the WT1 negativity, we believe that HH is better considered as a lymphatic malformation rather than a lymphatic neoplasm. Copyright © 2011 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

  20. Sodium Tetradecyl Sulphate Direct Intralesional Sclerotherapy of Venous Malformations of the Vulva and Vagina: Report of Five Cases

    International Nuclear Information System (INIS)

    Krokidis, Miltiadis; Venetucci, Pietro; Hatzidakis, Adam; Iaccarino, Vittorio

    2011-01-01

    We report five cases of female patients affected by symptomatic focal external genital venous malformations treated with percutaneous direct intralesional injection of sodium tetradecyl sulphate (STS). All patients were referred because of discomfort and pain when sexual intercourse was attempted. Direct sclerotherapy with 3% STS was performed on a day-hospital basis with the patient under local anesthesia. Complete resolution of the symptoms was achieved in all cases. No major adverse effects were reported. Direct intralesional sclerotherapy with STS may be considered a safe and effective method for the treatment of female external genital malformation without the necessity of general anesthesia for pain control.

  1. Hereditary hemorrhagic telangiectasia with bilateral pulmonary vascular malformations: A case report

    Directory of Open Access Journals (Sweden)

    Lončarević Olivera

    2016-01-01

    Full Text Available Introduction. Hereditary hemorrhagic telangiectasia (HHT also known as Osler-Weber-Rendu syndrome is an autosomal dominant disease that occurs due to vascular dysplasia associated with the disorder in the signaling pathway of transforming growth factor β (TGF-β. The clinical consequence is a disorder of blood vessels in multiple organ systems with the existence of telangiectasia which causes dilation of capillaries and veins, are present from birth and are localized on the skin and mucosa of the mouth, respiratory, gastrointestinal and urinary tract. They can make a rupture with consequent serious bleeding that can end up with fatal outcome. Since there is a disruption of blood vessels of more than one organic system, the diagnosis is very complex and requires a multidisciplinary approach. Case report. We reported a 40-year-old female patient with a long-time evolution of problems, who was diagnosed and treated at the Clinic for Lung Diseases of the Military Medical Academy in Belgrade, Serbia, because of bilaterally pulmonary arteriovenous malformations associated with HHT. Embolization was performed in two acts, followed with normalization of clinical, radiological and functional findings with the cessation of hemoptysis, effort intolerance with a significant improvement of the quality of life. Conclusion. HHT is a rare dominant inherited multisystem disease that requires multidisciplinary approach to diagnosis and treatment. Embolization is the method of choice in the treatment of arteriovenous malformations with minor adverse effects and very satisfying therapeutic effect.

  2. Facial nerve conduction after sclerotherapy in children with facial lymphatic malformations: report of two cases.

    Science.gov (United States)

    Lin, Pei-Jung; Guo, Yuh-Cherng; Lin, Jan-You; Chang, Yu-Tang

    2007-04-01

    Surgical excision is thought to be the standard treatment of choice for lymphatic malformations. However, when the lesions are limited to the face only, surgical scar and facial nerve injury may impair cosmetics and facial expression. Sclerotherapy, an injection of a sclerosing agent directly through the skin into a lesion, is an alternative method. By evaluating facial nerve conduction, we observed the long-term effect of facial lymphatic malformations after intralesional injection of OK-432 and correlated the findings with anatomic outcomes. One 12-year-old boy with a lesion over the right-side preauricular area adjacent to the main trunk of facial nerve and the other 5-year-old boy with a lesion in the left-sided cheek involving the buccinator muscle were enrolled. The follow-up data of more than one year, including clinical appearance, computed tomography (CT) scan and facial nerve evaluation were collected. The facial nerve conduction study was normal in both cases. Blink reflex in both children revealed normal results as well. Complete resolution was noted on outward appearance and CT scan. The neurophysiologic data were compatible with good anatomic and functional outcomes. Our report suggests that the inflammatory reaction of OK-432 did not interfere with adjacent facial nerve conduction.

  3. Delayed radiation necrosis 7 years after gamma knife surgery for arteriovenous malformation. Two case reports

    International Nuclear Information System (INIS)

    Oyoshi, Tatsuki; Yatsushiro, Kazutaka; Arita, Kazunori; Hirahara, Kazuho; Uetsuhara, Koichi

    2010-01-01

    A 44-year-old woman and a 55-year-old woman were treated with gamma knife surgery (GKS) for occipital arteriovenous malformation (AVM). Angiography confirmed complete nidus obliterations 2 years after GKS. However, both patients complained of chronic headache and visual symptoms from around 7 years after GKS. Magnetic resonance imaging showed round masses with or without cystic change surrounded by large areas of brain edema. Angiography also showed complete obliteration of AVM at this time. Extended corticosteroid treatment failed to control the edema. Both patients underwent total surgical removal of the mass. Visual disturbance and chronic headache improved postoperatively and the brain edema rapidly subsided. The histological diagnosis was radiation necrosis in both cases, attributed to the low conformity index and large 12-Gy volume due to usage of a large collimator for GKS. These cases of delayed radiation necrosis after GKS suggest that surgical removal of necrotic lesions is necessary for radiation necrosis intractable to medical treatment. (author)

  4. First-trimester in utero exposure to anorectics: a French collaborative study with special reference to dexfenfluramine.

    Science.gov (United States)

    Vial, T; Robert, E; Carlier, P; Bertolotti, E; Brun, A

    1992-01-01

    A collaborative study with 8 Teratology Information Centres was undertaken to collect data on anorectic exposures (amfepramone, clobenzorex, dexfenfluramine, fenfluramine, fenproporex) during pregnancy. Two hundred and ninety seven prospective enquiries were analysed of which 285 exposures occurred during the first trimester. Outcome of pregnancy was known for 164 of these cases. Voluntary or medical abortion was decided in 30 cases (18%), spontaneous abortion occurred in 14 cases (8.5%), extrauterine pregnancy in 1 patient and fetal death following drug abuse in another. A normal infant was delivered in 111 cases (68%). Low birthweight was identified in 1 case and neonatal complications in 2 cases. Various congenital abnormalities were noted in 4 cases (1 minor and 3 major), with no clear cause-effect relationship (2 amfepramone, 1 fenproporex and 1 dexfenfluramine). Although the number of exposed pregnancies in this cohort was too small to rule out any increase in teratogenic effects of anorectics, the results of this survey suggest that the risk for malformations, especially for dexfenfluramine is probably not greater than the 2-3% risk for pregnancies in the general population. Morover, these results provide substantial information for future enquiries about exposure to such medication during organogenesis.

  5. [The technique of hearing reconstruction in the cases of conductive hearing loss with malformed tympanic segment of facial nerve].

    Science.gov (United States)

    Yang, Feng; Song, Rendong; Liu, Yang

    2016-02-02

    To explore the technique of hearing reconstruction in the cases of conductive hearing loss with malformed tympanic segment of facial nerve. Data of 10 cases from July 2010 to March 2015 were collected.The status of tympanic segment of facial nerve, malformed ossicles and the reconstructed methods of ossicular chain were analyzed and discussed based on the embryo anatomy and surgical technique. All facial nerves in 10 cases were exposed and drooping to stapes or cover the oval window.Three patients who had normal stapes, pushed by the exposed facial nerve, were reconstructed with partial ossicular replacement prostheses (PORP). Two patients who had footplate, with partial fixation, were reconstructed with total ossicular replacement prostheses (TORP). Three patients who had atresia of the oval window were implanted with Piston after being made hole in the atresia plate.Another two cases who had atresia of the oval window were implanted with TORP after promontory being drilled out.All cases had no injury of facial nerve and nervous hearing, and no tinnitus.Nine cases had conductive hearing improvement, except one with promontory drilled out. Patients who had conductive hearing loss with malformed tympanic segment of facial nerve can be treated by the technique of hearing reconstruction.The fenestration technique in the bottom of the scala tympani of the basal turn provides us a new method for treating patients whose oval window was fully covered by malformed facial nerve.

  6. A Young Male with Spontaneous Ruptured Cerebral Arteriovenous Malformation (Case Report

    Directory of Open Access Journals (Sweden)

    Vitorino Modesto Santos

    2016-04-01

    Full Text Available Background: Cerebral arteriovenous malformation (AVM is considered a congenital condition characterized by arterial-venous connections in the absence of intermediate capillaries with circulatory and functional changes, inclusive on the cerebrospinal fluid (CSF dynamics. Case: A previously healthy young man with abrupt onset of intense headache followed by incoercible vomiting and generalized tonic-clonic seizures. On admission, he was in Glasgow scale IV with respiratory gasping, signs of decerebration and anisocoric mydriasis, and right paresis. Computed tomography showed left intraparenchymal hematoma and intraventricular blood. The abnormal vessels and blood clots were removed by neurosurgery. In early postoperative phase a large cerebrospinal fluid leak developed, and was aspirated and further controlled. The patient had respiratory complications, including pulmonary infection by Pseudomonas. Conclusions: After longstanding hospitalization, he was referred to other medical institution and home care. 

  7. Audio-vestibular signs and symptoms in Chiari malformation type i. Case series and literature review.

    Science.gov (United States)

    Guerra Jiménez, Gloria; Mazón Gutiérrez, Ángel; Marco de Lucas, Enrique; Valle San Román, Natalia; Martín Laez, Rubén; Morales Angulo, Carmelo

    2015-01-01

    Chiari malformation is an alteration of the base of the skull with herniation through the foramen magnum of the brain stem and cerebellum. Although the most common presentation is occipital headache, the association of audio-vestibular symptoms is not rare. The aim of our study was to describe audio-vestibular signs and symptoms in Chiari malformation type i (CM-I). We performed a retrospective observational study of patients referred to our unit during the last 5 years. We also carried out a literature review of audio-vestibular signs and symptoms in this disease. There were 9 patients (2 males and 7 females), with an average age of 42.8 years. Five patients presented a Ménière-like syndrome; 2 cases, a recurrent vertigo with peripheral features; one patient showed a sudden hearing loss; and one case suffered a sensorineural hearing loss with early childhood onset. The most common audio-vestibular symptom indicated in the literature in patients with CM-I is unsteadiness (49%), followed by dizziness (18%), nystagmus (15%) and hearing loss (15%). Nystagmus is frequently horizontal (74%) or down-beating (18%). Other audio-vestibular signs and symptoms are tinnitus (11%), aural fullness (10%) and hyperacusis (1%). Occipital headache that increases with Valsalva manoeuvres and hand paresthesias are very suggestive symptoms. The appearance of audio-vestibular manifestations in CM-I makes it common to refer these patients to neurotologists. Unsteadiness, vertiginous syndromes and sensorineural hearing loss are frequent. Nystagmus, especially horizontal and down-beating, is not rare. It is important for neurotologists to familiarise themselves with CM-I symptoms to be able to consider it in differential diagnosis. Copyright © 2014 Elsevier España, S.L.U. y Sociedad Española de Otorrinolaringología y Patología Cérvico-Facial. All rights reserved.

  8. Histopathologic observations of anorectal abnormalities in anal atresia.

    Science.gov (United States)

    Meier-Ruge, W A; Holschneider, A M

    2000-01-01

    Over the years from 1992 to 1997, 41 anorectal malformations (ARM) with histopathologic alterations were investigated to determine which morphologic abnormalities of the distal rectum accompany ARMs. Three other cases showed normal neuromuscular morphology; 9 further cases could not be evaluated owing to scanty biopsies. All resected specimens were caudocranially coiled and cryostat cut at -20 degrees C into serial sections, which were stained with a lactic dehydrogenase, succinic dehydrogenase, nitroxide synthase, and acetylcholinesterase reaction as well as hemalum and sirius red. Ten low, 15 intermediate, and 10 high forms of anal atresia (AA) were studied. In addition, six cloacal abnormalities were investigated. In 7 cases (17%) (5 intermediate, 2 low AAs), the characteristics of Hirschsprung's disease were observed. Oligoneuronal hypoganglionosis of the myenteric plexus proximal to the anal floor was diagnosed in 7 AAs (12%). In 10 children with high-type AA and resection of 1-5 cm distal rectum and in all cloacal anomalies (n = 6) defects of the muscularis propria were seen in the rectal-atresia sac. These defects were characterized by hypoplasia of the circular-muscle layer and/or the internal anal sphincter (IAS). Intestinal neuronal dysplasia of the submucous plexus was most frequently observed (12%) in high-type AA. A correlation between innervation anomalies or anomalies of the muscularis propria and the type of fistula could not be seen. In conclusion, all cases with high-type AA and cloacal anomalies were characterized by anomalies of the muscularis propria and/or IAS but this was not the case in intermediate and low-type AAs. Anomalies of the enteric nervous system were diagnosed in 60% of AAs.

  9. Orofacial clinical features in Arnold Chiari type I malformation: A case series.

    Science.gov (United States)

    de Arruda, José-Alcides; Figueiredo, Eugênia; Monteiro, João-Luiz; Barbosa, Livia-Mirelle; Rodrigues, Cleomar; Vasconcelos, Belmiro

    2018-04-01

    Arnold Chiari malformation (ACM) is characterized by an anatomical defect at the base of the skull where the cerebellum and the spinal cord herniate through the foramen magnum into the cervical spinal canal. Among the subtypes of the condition, ACM type I (ACM-I) is particularly outstanding because of the severity of symptoms. This study aimed to analyze the orofacial clinical manifestations of patients with ACM-I, and discuss their demographic distribution and clinical features in light of the literature. A case series with patients with ACM-I treated between 2012 and 2015 was described. The sample consisted of patients who were referred by the Department of Neurosurgery to the Oral and Maxillofacial Surgery Service of Hospital da Restauração in Brazil for the assessment of facial symptomatology. A questionnaire was applied to evaluate the presence of painful orofacial findings. Data are reported using descriptive statistical methods. Mean patient age was 39.3 years and the sample consisted mostly of male patients. A high prevalence of headache (50%) and pain in the neck (66.7%) and masticatory muscles (50%) was found. Only one patient reported difficulty in performing mandibular movements and two reported jaw clicking sounds. Mean mouth opening was 40.83 mm. ACM-I patients may exhibit orofacial symptoms which may mimic temporomandibular joint disorders. This study brings interesting information that could help clinicians and oral and maxillofacial surgeons to understand this uncommon condition and also help with the diagnosis of patients with similar physical characteristics by referring them to a neurosurgeon. Key words: Arnold-Chiari malformation, facial pain, diagnosis, orofacial.

  10. Congenital cystic adenomatoid malformations (CCAM) - prenatal MRI diagnosis: a case report

    International Nuclear Information System (INIS)

    Gagov, E.; Iieva, E.; Gvanska, G.

    2012-01-01

    Full text: Congenital Cystic Adenomatoid Malformation/CCAM (recently termed Congenital Pulmonary Airway Malformation/CPAM) is a rare lung lesion that is believed to result from a cessation of bronchiolar maturation with overgrowth of mesenchymal elements. The differential diagnosis of a mass in the fetal thorax includes CCAM/CPAM, congenital diaphragmatic hernia, and pulmonary sequestration. We present a case of CCAM/CPAM detected on prenatal ultrasound examination with prenatal magnetic resonance imaging (MRI) correlation. A multicystic lesion in the right hemithorax of the fetus was identified on ultrasound at 26th weeks of gestation which was slightly increasing in size on follow-up examinations. MRI was performed for further evaluation and selecting the appropriate management. On MRI the lesion was confined to the right middle lobe, consisting of a single large 3 cm cyst surrounded by multiple smaller cysts and compressed normal parenchyma of the upper and lower lobes of the right lung (type I, Stocker and al. classification). No mediastinal shift or other abnormalities to the contralateral lung were detected. No complications, such as hydrothorax or polyhydramnios were identified. Based on the MR findings postnatal surgical removal of the lung lesion was planned. Continuous weekly ultrasound follow-up examination was recommended. Improvements in magnetic resonance imaging (MRI) now permit diagnostic images of the fetus to be obtained. Ultrasound (US) remains vital in all aspects of fetal imaging but MR serves as a useful second line imaging test. MR imaging can provide excellent tissue contrast with more accurate analysis of the fetal anatomy and superior differentiation between the abnormalities and adjacent structures, thereby allowing early planning of pre- and postnatal management

  11. A case of malformation on the third maxilliped of Uca rapax (Smith, 1870 (Decapoda: Ocypodidae

    Directory of Open Access Journals (Sweden)

    Carlos Lira

    Full Text Available This paper evaluates the malformation in the left third maxilliped of a specimen of the fiddler crab Uca rapax from Venezuela. There are some hypotheses and the cause of the malformation remains unknown, but the results are indicative that is most likely due to errors in morphogenetic processes.

  12. A "blind" vascular ring in association with congenital cystic adenomatoid malformation: A case report.

    Science.gov (United States)

    Xia, Bo; Hong, Chun; Tang, Jing; Liu, Cuifen; Yu, Gang

    2017-12-01

    The occurrence of congenital cystic adenomatoid malformation (CCAM) and vascular ring (VR) is extremely rare. We present a case of left CCAM with VR consisting of a left aortic arch and right descending aorta with left tracheal compression causing atelectasis. A high-risk male neonate with the diagnosis of left CCAM was diagnosed at 20 weeks gestational age by antenatal ultrasound. Chest CT revealed multiple cysts in the left inferior lung. Cardiac CT showed VR consisting of a left aortic arch and right descending aorta with left tracheal compression causing atelectasis. left inferior lobectomy was performed. Cardiac CT showed VR consisting of a left aortic arch and right descending aorta with left tracheal compression causing atelectasis. Descending aorta transposition was performed. The patient recovered smoothly and remained asymptomatic during the 12-months of postoperative follow-up period. We report this rare case of CCAM with VR consisting of left aortic arch and right descending aorta with left tracheal compression causing atelectasis. From the findings of this report, early surgical treatment is recommended. Although the prognosis after surgery remained good, second surgery can be avoided if VR was detected early. Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

  13. Syringomyelia with Chiari I Malformation Presenting as Hip Charcot Arthropathy: A Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Roya Memarpour

    2015-01-01

    Full Text Available Neuroarthropathy (neuropathic osteoarthropathy, also known as Charcot joint, is a condition characterized by a progressive articular surface destruction in the setting of impaired nociceptive and proprioceptive innervation of the involved joint. It is seen most commonly in the foot and ankle secondary to peripheral neuropathy associated with diabetes mellitus. Cases of hip (Charcot neuroarthropathy are rare and almost exclusively reported in patients with neurosyphilis (tabes dorsalis. We report a case of a 36-year-old man who presented to the emergency department complaining of right hip pain. On physical examination, pain and thermal sensory deficits were noted in the upper torso with a cape-like distribution, as well as signs of an upper motor neuron lesion in the left upper and lower extremities. A magnetic resonance imaging study (MRI of the right hip showed evidence of early articular surface destruction and periarticular edema consistent with hip Charcot arthropathy. An MRI of the spine revealed an Arnold-Chiari type I malformation with extensive syringohydromyelia of the cervical and thoracic spine.

  14. Congenital malformations of pediatric surgical interest: prevalence, risk factors, and prenatal diagnosis between 2005 and 2012 in the capital city of a developing country. Bogotá, Colombia.

    Science.gov (United States)

    Correa, Catalina; Mallarino, Christina; Peña, Rafael; Rincón, Luis Carlos; Gracia, Gloria; Zarante, Ignacio

    2014-07-01

    Congenital anomalies (CAs) cause nearly one third of infant deaths worldwide. Various surveillance systems have been established, such as the Bogota Congenital Malformations Surveillance Program (BCMSP). Some CAs are of special interest to pediatric surgeons: omphalocele, gastroschisis, intestinal and esophageal atresia, anorectal malformations, vascular anomalies, diaphragmatic hernias, hypospadias and cryptorchidism. The aim of this study is to determine the prevalence of such CAs, and identify possible risk factors. Data from the BCMSP were collected between January 2005 and April 2012. CAs were classified in accordance with the ICD-10 and grouped for analysis purposes. Data on CA frequencies were obtained from the BCMSP. Association analyses were performed using the case-control methodology. 282,523 births were registered. 4682 (1.66%) had one or more CAs at birth. The prevalence of CAs requiring pediatric surgery was 1 in 1000. The most frequent CAs were vascular anomalies, hypospadias, and anorectal malformations. Exposure to external factors was significantly associated with selected CAs. 51% of selected birth defects were not diagnosed in prenatal ultrasound. This study highlights the importance of evaluating the local prevalence of congenital malformations. We propose the creation of specialized centers in Bogota to manage patients with CAs. Copyright © 2014 Elsevier Inc. All rights reserved.

  15. Pleural pneumatocoeles mimicking congenital cystic adenomatoid malformation of the lung. A case report

    International Nuclear Information System (INIS)

    Aurora, P.; McHugh, K.

    1998-01-01

    We present the plain radiographic and CT appearances of large intrapleural pneumatocoeles in a 13-week-old infant, resulting in compression atelectasis of the left upper and lower lobes, and mimicking congenital cystic adenomatoid malformation. (orig.)

  16. Successful treatment of two cases of urorectal septum malformation sequence with oligohydramnios and severe respiratory failure

    Directory of Open Access Journals (Sweden)

    Sekiguchi K

    2013-03-01

    Full Text Available Kazuhito Sekiguchi, Daijiro Takahashi, Takehiko Hiroma, Tomohiko Nakamura Division of Neonatology, Nagano Children's Hospital, Nagano, Japan Abstract: Urorectal septum malformation sequence can be diagnosed prenatally. We report herein the successful treatment of severe respiratory failure in two patients with urorectal septum malformation sequence and prenatally diagnosed oligohydramnios. The patients showed significant hypoxic deterioration and persistent pulmonary artery hypertension soon after birth. We used high-frequency ventilation (HFO, nitric oxide (NO, and extracorporeal membrane oxygenation (ECMO. The patients were successfully weaned from ECMO and artificial ventilation and discharged to home. Although termination of the pregnancy has often been selected for fetuses with oligohydramnios-related urorectal septum malformation sequence, our results suggest the opportunity for these fetuses to be treated using respiratory supports including HFO, NO, and ECMO after birth. Keywords: urorectal septum malformation sequence, oligohydramnios, pulmonary hypoplasia

  17. Radiosurgery for cerebral arteriovenous malformation during pregnancy: A case report focusing on fetal exposure to radiation

    Science.gov (United States)

    Nagayama, Kazuki; Kurita, Hiroki; Tonari, Ayako; Takayama, Makoto; Shiokawa, Yoshiaki

    2010-01-01

    Introduction: We present the case of a pregnant woman who underwent linear accelerator (LINAC)-based stereotactic radiosurgery (SRS) and we discuss the fetal exposure to radiation. Clinical Presentation: A 20-year-old woman at 18 weeks of gestation presented with right cerebral hemorrhage and underwent urgent evacuation of the hematoma. She recovered well after surgery, but cerebral angiography after the surgery revealed a small deeply seated arteriovenous malformation (AVM) in the right frontal lobe extending to the right basal ganglia. Methods and Results: We examined the diffuse AVM and treated it with LINAC-based SRS at 24 weeks of gestation. Before SRS, the fetus was exposed to a radiation dose of 8.26 mGy, which was estimated by conducting an experiment using an adult RANDO phantom, and a radiophotoluminescent (RPL) glass rod dosimeter (GRD) system. The patient underwent Caesarean delivery at 36 weeks of gestation and gave birth to a healthy baby. Conclusion: The exposure of fetus to radiation during SRS was exceedingly low. SRS can be used as an alternative treatment to microsurgery for resolving small deeply seated AVMs even in pregnant patients. PMID:22028762

  18. Osler-Weber-Rendu syndrome complicated with pulmonary arteriovenous malformation: A case report and review of literatures

    Directory of Open Access Journals (Sweden)

    Kuan-Yu Wang

    2015-01-01

    Full Text Available Osler-Weber-Rendu syndrome is a hereditary disease which is diagnosed by criterions of clinical symptoms and examinations. Here, we report a definite case of Osler-Weber-Rendu syndrome who had epistaxis, skin telangiectasia, and pulmonary arteriovenous malformation (PAVM. His initial clinical presentations were growing pulmonary nodule with cough and occasional chest pain. PAVM with rupture of aneurysm was diagnosed histologically after wedge resection of the nodule in his right lower lung.

  19. Early diagnosis of congenital vascular malformation as a condition to rapid prevention of complications – case study

    OpenAIRE

    Dominika Jaguś; Agata Rutkowska; Paweł Wareluk

    2017-01-01

    Klippel–Trénaunay syndrome is a rare congenital condition characterised by a triad of symptoms: capillary-lymphatic-venous malformations, varicose veins and venous malformations as well as soft tissue and skeletal hypertrophy of the affected limb. In this article, we present a case of a 5-year-old boy with extensive vascular malformations of the lower limbs and the buttock region. In this case, manifestation of all three symptoms was gradual. At the age of 4 years, the patient was ad...

  20. Defining the molecular pathologies in cloaca malformation: similarities between mouse and human

    Directory of Open Access Journals (Sweden)

    Laura A. Runck

    2014-04-01

    Full Text Available Anorectal malformations are congenital anomalies that form a spectrum of disorders, from the most benign type with excellent functional prognosis, to very complex, such as cloaca malformation in females in which the rectum, vagina and urethra fail to develop separately and instead drain via a single common channel into the perineum. The severity of this phenotype suggests that the defect occurs in the early stages of embryonic development of the organs derived from the cloaca. Owing to the inability to directly investigate human embryonic cloaca development, current research has relied on the use of mouse models of anorectal malformations. However, even studies of mouse embryos lack analysis of the earliest stages of cloaca patterning and morphogenesis. Here we compared human and mouse cloaca development and retrospectively identified that early mis-patterning of the embryonic cloaca might underlie the most severe forms of anorectal malformation in humans. In mouse, we identified that defective sonic hedgehog (Shh signaling results in early dorsal-ventral epithelial abnormalities prior to the reported defects in septation. This is manifested by the absence of Sox2 and aberrant expression of keratins in the embryonic cloaca of Shh knockout mice. Shh knockout embryos additionally develop a hypervascular stroma, which is defective in BMP signaling. These epithelial and stromal defects persist later, creating an indeterminate epithelium with molecular alterations in the common channel. We then used these animals to perform a broad comparison with patients with mild-to-severe forms of anorectal malformations including cloaca malformation. We found striking parallels with the Shh mouse model, including nearly identical defective molecular identity of the epithelium and surrounding stroma. Our work strongly suggests that early embryonic cloacal epithelial differentiation defects might be the underlying cause of severe forms of anorectal malformations

  1. Is drug insurance status an effect modifier in epidemiologic database studies? The case of maternal asthma and major congenital malformations.

    Science.gov (United States)

    Blais, Lucie; Kettani, Fatima-Zohra; Forget, Amélie; Beauchesne, Marie-France; Lemière, Catherine

    2015-12-01

    Our previous work on the association between maternal asthma and congenital malformations was based on cohorts formed by women with public drug insurance, i.e., over-represented by women with lower socioeconomic status, questioning the generalizability of our findings. This study aimed to evaluate whether or not drug insurance status, as a proxy of socioeconomic status, is an effect modifier for the association between maternal asthma and major congenital malformations. A cohort of 36,587 pregnancies from asthmatic women and 198,935 pregnancies from nonasthmatic women selected independently of their drug insurance status was reconstructed with Québec administrative databases (1998-2009). Asthmatic women were identified using a validated case definition of asthma. Cases of major congenital malformations were identified using diagnostic codes recorded in the hospitalization database. Drug insurance status at the beginning of pregnancy was classified into three groups: publicly insured with social welfare, publicly insured without social welfare, and privately insured. Adjusted odds ratios were estimated with generalized estimation equations, including an interaction term between maternal asthma and drug insurance status. The prevalence of congenital malformations was 6.8% among asthmatic women and 5.8% among nonasthmatics. The impact of asthma on the prevalence of congenital malformations was significantly greater in women publicly insured with social welfare (odds ratio = 1.42; 95% confidence interval, 1.25-1.61) than in the other two groups ([odds ratio = 1.10; 1.00-1.21] in the publicly insured without social welfare and [odds ratio = 1.13; 1.07-1.20] in the privately insured group). The increased risk of major congenital malformation associated with asthma was significantly higher among pregnant women publicly insured with social welfare than among those privately insured. As a result of this effect modification by drug insurance status, findings

  2. Primary Anorectal Melanoma: An Update

    Directory of Open Access Journals (Sweden)

    P Carcoforo, M.T Raiji, G.M Palini, M Pedriali, U Maestroni, G Soliani, A Detroia, M.V Zanzi, A.L Manna, J.G Crompton, R.C Langan, A Stojadinovic, I Avital

    2012-01-01

    Full Text Available The anorectum is a rare anatomic location for primary melanoma. Mucosal melanoma is a distinct biological and clinical entity from the more common cutaneous melanoma. It portrays worse prognosis than cutaneous melanoma, with distant metastases being the overwhelming cause of morbidity and mortality. Surgery is the treatment of choice, but significant controversy exists over the extent of surgical resection. We present an update on the state of the art of anorectal mucosal melanoma. To illustrate the multimodality approach to anorectal melanoma, we present a typical patient.

  3. Diode laser to treat small oral vascular malformations: A prospective case series study.

    Science.gov (United States)

    Bacci, Christian; Sacchetto, Luca; Zanette, Gastone; Sivolella, Stefano

    2018-02-01

    The current work examined a consecutive series of patients presenting vascular malformations (VMs) and venous lakes (VLs) of the lip and oral mucosa who were treated with transmucosal diode laser applications and assessed over a 1 year period. Fifty-nine patients (31 males and 28 females) presenting low-flow VMs or VLs of the oral cavity were treated transmucosally using a diode laser (with an 830 nm operating wavelength and 1.6 W output power) with a 320 µm diameter flexible fiber. All the lesions were assessed 7 days, 30 days, and 1 year after the laser treatment, and the lesion reduction percentage was scored on a one to five scale. The patients were also asked to assess their pain perception daily during the 7 days following the treatment using a visual analog scale (VAS). There were no procedure-related intra- or post-operative complications; only modest pain intensity was reported. Thirty days after the treatment, lesion reduction was described as excellent or good in 52 cases; it was fair or poor in 7. Six patients (F:M ratio 2:4) required a second diode laser application. At the 1 year follow-up, volume reduction was complete in 48 out of 59 patients; there were five recurrences (F:M ratio 3:2). No relevant gender-related differences were noted. The use of diode laser application to treat small oral VMs and VLs was associated to shorter operating times and fewer postoperative complications with respect to the scapel surgery approach. More than one session may nevertheless be required if the anomaly is larger than 10 mm. Lasers Surg. Med. 50:111-116, 2018. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  4. Common anorectal disorders: diagnosis and treatment.

    Science.gov (United States)

    Lacy, Brian E; Weiser, Kirsten

    2009-10-01

    Anorectal disorders affect men and women of all ages. Their management is not limited to the evaluation and treatment of hemorrhoids. Rather, a spectrum of anorectal disorders ranges from benign and irritating (pruritus ani) to potentially life-threatening (anorectal cancer). Symptoms are nonspecific, which can make the evaluation of patients difficult. In addition, treatment can be frustrating because clinicians are hamstrung by a lack of well-designed, prospective, clinical trials. Some of the most common anorectal disorders include fecal incontinence, pelvic floor dyssynergia, anal fissures, pruritus ani, proctalgia fugax, and solitary rectal ulcer syndrome. This article provides an update on the evaluation and treatment of common anorectal disorders.

  5. Chiari Malformation

    Science.gov (United States)

    ... the back of the skull, just above the spine. When a child has a Chiari malformation, the space for the ... a portion of the top vertebra in the spine to reduce pressure in that area. If a child with a Chiari malformation also has hydrocephalus, the ...

  6. Gadofosveset-enhanced magnetic resonance angiography as a means of evaluating pulmonary arteriovenous malformation: a case report.

    Science.gov (United States)

    Pressacco, Josephine; Papas, Konstantin

    2012-07-01

    This case report is a unique presentation of a new potential indication for Gadofosvest (Ablavar), a blood pool contrast agent for magnetic resonance angiography (MRA). Ablavar is an excellent MRA contrast agent because it provides optimal contrast opacification of both the arterial and venous system, unlike the conventional extracellular agents that are used for arterial imaging only. The present case report demonstrates the ability of Ablavar to demonstrate pulmonary arteriovenous malformation (AVM), showing both its arterial feeders as well as its venous drainage tract. Crown Copyright © 2012. Published by Elsevier Inc. All rights reserved.

  7. Oral Surgical Procedures Performed Safely in Patients With Head and Neck Arteriovenous Malformations: A Retrospective Case Series of 12 Patients.

    Science.gov (United States)

    Karim, Abdul Basit; Lindsey, Sean; Bovino, Brian; Berenstein, Alejandro

    2016-02-01

    This case series describes patients with head and neck arteriovenous malformations who underwent oral and maxillofacial surgical procedures combined with interventional radiology techniques to minimize blood loss. Twelve patients underwent femoral cerebral angiography to visualize the extent of vascular malformation. Before the surgical procedures, surgical sites were devascularized by direct injection of hemostatic or embolic agents. Direct puncture sclerotherapy at the base of surgical sites was performed using Surgiflo or n-butylcyanoacrylate glue. Surgical procedures were carried out in routine fashion. A hemostatic packing of FloSeal, Gelfoam, and Avitene was adapted to the surgical sites. Direct puncture sclerotherapy with Surgiflo or n-butylcyanoacrylate glue resulted in minimal blood loss intraoperatively. Local application of the FloSeal, Gelfoam, and Avitene packing sustained hemostasis and produced excellent healing postoperatively. Patients with arteriovenous malformations can safely undergo routine oral and maxillofacial surgical procedures with minimal blood loss when appropriate endovascular techniques and local hemostatic measures are used by the interventional radiologist and oral and maxillofacial surgeon. Copyright © 2016 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  8. Management Of Anorectal Malformation In Children: A 10 Year ...

    African Journals Online (AJOL)

    Bowel control was assessed after three years in 48 patients and classified as good control in 39 (81.3%) and fair in 9 (18.8%) patients. ... Our results can improve further with early presentation of patients, accurate definition of anomalies, careful choice of available techniques and reduced utilization of neonatal colostomy.

  9. Primary anorectoplasty in females with common anorectal malformations without colostomy.

    Science.gov (United States)

    Menon, Prema; Rao, Katragadda Lakshmi Narashima

    2007-06-01

    The objective of this study is to assess the feasibility of primary posterior sagittal anorectoplasty in vestibular fistula without a covering colostomy. Girls presenting from July 1997 to July 2005 with vestibular fistula were included prospectively in the study, in a nonrandomized manner, after excluding those with megarectosigmoid and pouch colon. All underwent primary posterior sagittal anorectoplasty after total gut irrigation with normal saline. They were kept nil per oral until the fifth postoperative day. No patient was started on anal dilatation. Patients were assessed for immediate and delayed complications as well as voluntary bowel movements and continence. A total of 72 patients with an age range of 1.5 months to 8 years (median, 9 months) were studied after excluding 7 with pouch colon and 3 with megarectosigmoid. Of the 72, 3 had undergone previous surgery. Follow-up ranged from 7 months to 8 years. No wound dehiscence or recurrence of fistula was noted. There were 5 mild wound infections. At 1 month postoperative, all patients had 1 to 3 stools per day with no episodes of soiling. None required anal dilatations, laxatives, or enemas. Primary posterior sagittal anorectoplasty in vestibular fistula can be performed without a covering colostomy provided fecal contamination of the wound can be kept to the minimum in the first postoperative week. We achieve this by thorough total gut irrigation preoperatively and keeping the child nil per oral for the first 5 postoperative days. Continence rates are excellent and postoperative constipation is unlikely if megarectosigmoid and pouch colon are ruled out before surgery. Anal dilatation is not required after surgery.

  10. Imaging in anorectal malformations: What does the surgeon need to ...

    African Journals Online (AJOL)

    2015-12-11

    Dec 11, 2015 ... gastrointestinal (5%–10%), and vertebral defects, anal atresia, cardiac defects, tracheo-oesophageal fistula, renal ... Westgarth-Taylor T, Wood. RJ, Levitt MA. .... Abdominal and pelvic US is used to detect any anomalies.

  11. Outcome of patients with anorectal malformations after posterior ...

    African Journals Online (AJOL)

    , vestibular. aDepartment of Surgery, Imam Khomeini Hospital and bAbouzar Children's. Hospital, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran. Correspondence to Shahnam Askarpour, MD, Department of Surgery, Imam.

  12. The Pattern of Surgically Treatable Anorectal Diseases in University ...

    African Journals Online (AJOL)

    PATIENTS AND METHODS: This is a 4 year retrospective study of all adult patients with anorectal diseases who were admitted into the surgical wards of University of Port Harcourt Teaching Hospital. Relevant data were retrieved and analyzed. RESULTS: One hundred and fifty cases were seen over the 4 year period.

  13. Post-irradiation lumbosacral radiculopathy associated with multiple cavernous malformations of the cauda equina: Case report and review of the literature

    OpenAIRE

    Drazin, Doniel; Kappel, Ari; Withrow, Stefan; Perry, Tiffany; Chu, Ray; Phuphanich, Surasak

    2017-01-01

    Background: Multiple radiation-induced cavernous malformations of the cauda equina are extremely rare. A review of the literature suggested that the post-irradiation lumbosacral radiculopathy in our patient was most likely associated with a diagnosis of multiple radiation-induced cavernous malformations of the cauda equina. Case Description: A 76-year-old man with a remote history of abdominal radiation therapy presented with a 6-month history of progressively worsening right foot drop and...

  14. The MDCT and MRI Findings of a Pancreatic Arteriovenous Malformation Combined with Isolated Dissection of the Superior Mesenteric Artery: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Yong Soo; Jeong, Woo Kyoung [Hanyang University Guri Hospital, Seoul (Korea, Republic of); Kim, Jin Oo [Naval Pohang Hospital, Pohang (Korea, Republic of); Oh, Ji Young; Song, Soon Young [Hanyang University Medical College, Seoul (Korea, Republic of)

    2010-03-15

    Pancreatic arteriovenous malformation and isolated spontaneous dissection of the superior mesenteric artery are both rare maladies, and now they can be easily diagnosed due to the development of such noninvasive modalities as multi-detector computed tomography and magnetic resonance imaging. We report here on the multi-detector computed tomography and magnetic resonance imaging findings of a rare case of pancreatic arteriovenous malformation combined with isolated dissection of the superior mesenteric artery.

  15. The MDCT and MRI Findings of a Pancreatic Arteriovenous Malformation Combined with Isolated Dissection of the Superior Mesenteric Artery: A Case Report

    International Nuclear Information System (INIS)

    Kim, Yong Soo; Jeong, Woo Kyoung; Kim, Jin Oo; Oh, Ji Young; Song, Soon Young

    2010-01-01

    Pancreatic arteriovenous malformation and isolated spontaneous dissection of the superior mesenteric artery are both rare maladies, and now they can be easily diagnosed due to the development of such noninvasive modalities as multi-detector computed tomography and magnetic resonance imaging. We report here on the multi-detector computed tomography and magnetic resonance imaging findings of a rare case of pancreatic arteriovenous malformation combined with isolated dissection of the superior mesenteric artery

  16. Cardiac and vascular malformations

    International Nuclear Information System (INIS)

    Ley, S.; Ley-Zaporozhan, J.

    2015-01-01

    Malformations of the heart and great vessels show a high degree of variation. There are numerous variants and defects with only few clinical manifestations and are only detected by chance, such as a persistent left superior vena cava or a partial anomalous pulmonary venous connection. Other cardiovascular malformations are manifested directly after birth and need prompt mostly surgical interventions. At this point in time echocardiography is the diagnostic modality of choice for morphological and functional characterization of malformations. Additional imaging using computed tomography (CT) or magnetic resonance imaging (MRI) is only required in a minority of cases. If so, the small anatomical structures, the physiological tachycardia and tachypnea are a challenge for imaging modalities and strategies. This review article presents the most frequent vascular, cardiac and complex cardiovascular malformations independent of the first line diagnostic imaging modality. (orig.) [de

  17. Direct Puncture Embolization of Scalp Arteriovenous Malformation in a Patient with Severe Hemophilia A: A Case Report

    International Nuclear Information System (INIS)

    Lee, Kyung Mi; Kim, Eui Jong; Park, Bong Jin; Kim, Keon Ha

    2011-01-01

    We present a case of scalp arteriovenous malformation (AVM) in a patient with severe hemophilia A. The 22-year-old man presented with a pulsatile right parietal scalp mass. Digital subtraction angiography revealed an AVM in the right parietal scalp, supplied by superficial temporal and occipital arteries that drained into multiple venous structures. We successfully performed direct puncture embolization followed by surgical resection of the scalp AVM in conjunction with supplemental infusion of coagulation factor VIII before, during and after the embolization and the operation.

  18. Direct Puncture Embolization of Scalp Arteriovenous Malformation in a Patient with Severe Hemophilia A: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Kyung Mi; Kim, Eui Jong [Dept. of Radiology, Kyung Hee University Hospital, Kyung Hee University Graduate School of Medicine, Seoul (Korea, Republic of); Park, Bong Jin [Dept. of Neurosurgery, Kyung Hee University Hospital, Kyung Hee University Graduate School of Medicine, Seoul (Korea, Republic of); Kim, Keon Ha [Dept. of Radiology, Samsug Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2011-09-15

    We present a case of scalp arteriovenous malformation (AVM) in a patient with severe hemophilia A. The 22-year-old man presented with a pulsatile right parietal scalp mass. Digital subtraction angiography revealed an AVM in the right parietal scalp, supplied by superficial temporal and occipital arteries that drained into multiple venous structures. We successfully performed direct puncture embolization followed by surgical resection of the scalp AVM in conjunction with supplemental infusion of coagulation factor VIII before, during and after the embolization and the operation.

  19. Peripheral venous malformations and pulmonary hypertension: A case report and literature review

    Directory of Open Access Journals (Sweden)

    Nambakam Tanuja Subramanyam

    2015-01-01

    Full Text Available Extensive pure peripheral venous malformations are rare. We report occurrence of peripheral venous malformations associated with pulmonary hypertension in a middle-aged male, who had nodular, irregular, soft, compressible, painless, non-pulsatile swellings over dependant positions such as forearms, hands, axilla, and genitalia, with overgrowth of hands and fingers enlarging slowly since early childhood. He had right ventricular failure signs. Plain films showed soft-tissue mass with diffuse calcifications (phleboliths. Doppler study showed low flow vascular channels, compressible hypoechoic lesions along with occasional hyperechoeic lesion corresponding with phleboliths. Magnetic resonance imaging (MRI, T1-weighted showed polypoidal mass with heterogenous hypo to intermediate signal with no flow voids. T2-weighted MRI showed high-signal intensity mass. Computed tomography (CT pulmonary angiogram showed pulmonary hypertension, no thrombi or vascular malformation. He was treated with angiotensin-converting enzyme inhibitors, diuretics, amiodarone, antiplatelets, and venous stockings. Specific therapy such as sclerosis and surgical resection could not be done as he was discharged against medical advice.

  20. Brain Malformations

    Science.gov (United States)

    Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it ... medicines, infections, or radiation during pregnancy interferes with brain development. Parts of the brain may be missing, ...

  1. The OSR1 rs12329305 polymorphism contributes to the development of congenital malformations in cases of stillborn/neonatal death.

    Science.gov (United States)

    Lozić, Bernarda; Krželj, Vjekoslav; Kuzmić-Prusac, Ivana; Kuzmanić-Šamija, Radenka; Čapkun, Vesna; Lasan, Ružica; Zemunik, Tatijana

    2014-08-28

    Involvement of development-related gene polymorphisms in multifactorial/polygenic etiology of stillborn/neonatal deaths due to malformations has been insufficiently tested. Since these genes showed evolutional stability and their mutations are very rare, we can assume that their polymorphic variants may be a risk factor associated with the occurrence of developmental disorders of unknown etiology or can enhance the phenotypic variability of known genetic disorders. To determine the association of 3 polymorphisms involved in the regulation of the early embryonic development of different organs, we conducted an association study of their relation to the particular malformation. We selected 140 samples of archived paraffin tissue samples from deceased patients in which fetal/neonatal autopsy examination had shown congenital abnormalities as the most likely cause of death. The polymorphisms of OSR1 rs12329305, rs9936833 near FOXF1, and HOXA1 rs10951154 were genotyped using the TaqMan allelic discrimination assay. After Bonferroni correction for multiple testing, significant allelic association with stillborn/neonatal deaths was observed for rs12329305 (p=7×10-4). In addition, association analysis for the same polymorphism was shown in the subgroup with isolated anomalies (1.25×10^-5), particularly in the subgroup of cases with kidney and heart anomalies (p=4.18×10^-5, p=5.12×10^-8, respectively). The findings of the present study showed, for the first time, the role of the OSR1 rs12329305 polymorphism in the development of congenital malformations in cases of stillborn/neonatal death, particularly in those with congenital kidney and heart developmental defects.

  2. Anesthesia for ambulatory anorectal surgery.

    Science.gov (United States)

    Gudaityte, Jūrate; Marchertiene, Irena; Pavalkis, Dainius

    2004-01-01

    The prevalence of minor anorectal diseases is 4-5% of adult Western population. Operations are performed on ambulatory or 24-hour stay basis. Requirements for ambulatory anesthesia are: rapid onset and recovery, ability to provide quick adjustments during maintenance, lack of intraoperative and postoperative side effects, and cost-effectiveness. Anorectal surgery requires deep levels of anesthesia. The aim is achieved with 1) regional blocks alone or in combination with monitored anesthesia care or 2) deep general anesthesia, usually with muscle relaxants and tracheal intubation. Modern general anesthetics provide smooth, quickly adjustable anesthesia and are a good choice for ambulatory surgery. Popular regional methods are: spinal anesthesia, caudal blockade, posterior perineal blockade and local anesthesia. The trend in regional anesthesia is lowering the dose of local anesthetic, providing selective segmental block. Adjuvants potentiating analgesia are recommended. Postoperative period may be complicated by: 1) severe pain, 2) urinary retention due to common nerve supply, and 3) surgical bleeding. Complications may lead to hospital admission. In conclusion, novel general anesthetics are recommended for ambulatory anorectal surgery. Further studies to determine an optimal dose and method are needed in the group of regional anesthesia.

  3. Recurrence of a paediatric arteriovenous malformation 9 years postcomplete excision: case report and review of literature.

    LENUS (Irish Health Repository)

    McCarthy, Claire

    2012-01-01

    Cerebral arteriovenous malformations (AVMs) are a common congenital vascular anomaly, which often present in both children and adults. Surgery is considered curative once postoperative angiography confirms the absence of vessels. We describe a 6-year-old girl, who had a Spetzler-Martin Grade II AVM resected successfully, in which a recurrent AVM was detected on routine follow-up over 9 years post excision. The aetiopathogenesis of this rare occurrence with a review of literature is discussed. Long-term postoperative follow-up in the form of MRI\\/MR angiogram is recommended for all fully resected AVMs in the paediatric age group, anticipating the possibility of future recurrence.

  4. Kimura's Disease without Peripheral Eosinophilia: An Unusual and Challenging Case Simulating Venous Malformation on Imaging Studies-Case Report and Review of literature.

    Science.gov (United States)

    Dokania, Vivek; Patil, Digvijay; Agarwal, Ketan; Thakur, Prajakta; Prajapati, Piyush

    2017-06-01

    Kimura's Disease (KD) is a rare chronic inflammatory disorder presenting as multiple painless solitary subcutaneous nodules, predominantly in the head and neck region and frequently associated with regional lymphadenopathy and/or salivary gland involvement. Because of painless nature and indolent course, there is usually a delay in the patient's presentation. KD may radiologically mimic other chronic inflammatory conditions like tuberculosis, vascular malformations and neoplasms. Clinical correlation and histological evaluation along with elevated peripheral eosinophil and serum IgE level are considered important for confirmatory diagnosis. We report a case of painless swelling over right submandibular region extending to the right superficial parotid. The haematological reports were within normal limits. Ultrasound (USG), Magnetic Resonance Imaging (MRI) and Magnetic Resonance Angiogram (MRA) favoured a diagnosis of venous malformation. However, histopathological examination of excised lesion confirmed a diagnosis of KD. This case proves the possibility of the KD even in the absence of peripheral eosinophilia and/ or elevated serum IgE level, and may mimic venous malformation on imaging studies. Therefore, KD must find a place in the differentials of solitary painless neck swelling even in the absence of peripheral eosinophilia and/or elevated IgE level.

  5. Transcatheter embolization of a congenital intrahepatic arterioportal venous malformation: A case report

    International Nuclear Information System (INIS)

    Sing, T.M.Y.S.; Wong, K.P.; Young, N.; Le, S.D.V.

    1997-01-01

    Congenital intrahepatic arterioportal venous malformations (APVM) are uncommon lesions. A congenital intrahepatic APVM found incidentally in a 51 -year-old man during pre-operative aortography for an abdominal aortic aneurysm is reported here. This was successfully treated by transcatheter embolization of the involved hepatic artery prior to surgical repair of the aortic aneurysm. A 51-year-old smoker was admitted for pre-operative aortography of an abdominal aortic aneurysm (AAA). Liver function tests showed a mildly elevated alkaline phosphatase. There was no previous history of liver disease or trauma. Aortography demonstrated a large infra-renal AAA measuring 10 cm in diameter and 20 cm in length. The coeliac axis was noted to be grossly dilated with tortuous veins seen to the right side of the lower thoracic spine on delayed images. Coeliac angiography revealed a dilated intrahepatic vascular abnormality in the left lobe of the liver with late opacification of the portal vein. Contrast abdominal CT demonstrated the AAA and the dilated coeliac axis feeding a large vascular malformation in the lateral aspect of the left lobe of the liver. The arterial inflow was via the left hepatic artery and a large vein was seen leading into the left portal vein. Endoscopy showed no oesophageal varices. (authors)

  6. Transcatheter embolization of a congenital intrahepatic arterioportal venous malformation: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Sing, T.M.Y.S.; Wong, K.P.; Young, N. [Westmead Hospital, Westmead, NSW, (Australia). Department of Radiaology; Le, S.D.V. [Bankstown-Lidcombe Hospital, Bankstown, NSW, (Australia). Department of Nuclear Medicine and Ultrasound

    1997-08-01

    Congenital intrahepatic arterioportal venous malformations (APVM) are uncommon lesions. A congenital intrahepatic APVM found incidentally in a 51 -year-old man during pre-operative aortography for an abdominal aortic aneurysm is reported here. This was successfully treated by transcatheter embolization of the involved hepatic artery prior to surgical repair of the aortic aneurysm. A 51-year-old smoker was admitted for pre-operative aortography of an abdominal aortic aneurysm (AAA). Liver function tests showed a mildly elevated alkaline phosphatase. There was no previous history of liver disease or trauma. Aortography demonstrated a large infra-renal AAA measuring 10 cm in diameter and 20 cm in length. The coeliac axis was noted to be grossly dilated with tortuous veins seen to the right side of the lower thoracic spine on delayed images. Coeliac angiography revealed a dilated intrahepatic vascular abnormality in the left lobe of the liver with late opacification of the portal vein. Contrast abdominal CT demonstrated the AAA and the dilated coeliac axis feeding a large vascular malformation in the lateral aspect of the left lobe of the liver. The arterial inflow was via the left hepatic artery and a large vein was seen leading into the left portal vein. Endoscopy showed no oesophageal varices. (authors). 11 refs., 7 figs.

  7. A three-year-old boy with X-linked adrenoleukodystrophy and congenital pulmonary adenomatoid malformation: a case report

    Directory of Open Access Journals (Sweden)

    Cakan Nedim

    2009-12-01

    Full Text Available Abstract Introduction X-linked adrenoleukodystrophy leads to demyelination of the nervous system, adrenal insufficiency, and accumulation of long-chain fatty acids. Most young patients with X-linked adrenoleukodystrophy develop seizures and progressive neurologic deficits, and die within the first two decades of life. Congenital or acquired disorders of the respiratory system have not been previously described in patients with X-linked adrenoleukodystrophy. Case presentation A 3-year-old Arabic boy from Yemen presented with discoloration of the mucous membranes and nail beds, which were considered cyanoses due to methemoglobinemia. He also had shortness of breath, fatigue, emesis and dehydration episodes for which he was admitted to our hospital. Chest radiograph and chest computed tomography scans showed congenital pulmonary adenomatoid malformation. A few weeks before the removal of the malformation, he had a significant episode of hypotension and hypoglycemia. This development required further in-hospital evaluation that led to the diagnosis of adrenal insufficiency and the initiation of treatment with corticosteroids. One year later, he developed seizures and loss of consciousness. Magnetic resonance imaging of his head showed diffuse demyelination secondary to X-linked adrenoleukodystrophy. He was treated with anti-seizure and anti-oxidants, and was referred for bone marrow transplant evaluation. Conclusion The presence of adrenal insufficiency, neurologic deficits and seizures are common manifestations of X-linked adrenoleukodystrophy. The association of congenital lung disease with X-linked adrenoleukodystrophy or Addison's disease has not been described previously.

  8. Radiological evolution of peri-odontoid pannus in a patient with Chiari I malformation: a case-based review.

    Science.gov (United States)

    Sanders, Felipe Hada; Wang, Joy M H; Oskouian, Rod J; Tubbs, R Shane; Oakes, W Jerry

    2017-08-01

    The Chiari I malformation (CIM) is commonly encountered by neurosurgeons and can have different etiologies and clinical presentations. We report a CIM patient who presented with symptoms of ventral brain stem compression and was found to have a large peri-odontoid pannus. Posterior fossa decompression was performed with a planned second-stage odontoidectomy. However, at the 6-month follow-up, postoperative images demonstrated a mostly resolved pannus and improvement of the brain stem compression symptoms, and the patient progressed uneventfully without the need for odontoidectomy. This case illustrates the resolution of a significant and symptomatic peri-odontoid pannus in a patient with CIM without craniocervical fusion or odontoidectomy. Such a case indicates that not all peri-odontoid pannus formations in CIM patients are due to hypermobility at the craniocervical junction.

  9. Surgical management of adult type 1 split cord malformation. Report of two cases with literature review.

    Science.gov (United States)

    Viswanathan, Vibhu K; Minnema, Amy J; Farhadi, H Francis

    2018-06-01

    Split cord malformation (SCM) is a rare form of spinal dysraphism wherein the spinal cord is divided longitudinally into two distinct hemicords. Surgery is usually performed in children while management in adults, who rarely manifest symptoms, remains controversial. Both expectant management and prophylactic surgery have been variously advocated. The present article describes our experience in two adult patients with predominant pain-related complaints who underwent surgical excision of type 1 SCM lesions. A comprehensive review of the literature on SCM in adults is also provided. While pain, disability, and quality of life scores improved in these two patients, further larger studies will be required to define the role of surgery in adults with type 1 SCM and a pain-dominant presentation. Copyright © 2018 Elsevier Ltd. All rights reserved.

  10. Congenital cystic adenomatoid malformation

    International Nuclear Information System (INIS)

    Chaudhry, A.K.; Azam, M.; Maqsood, R.; Naz, B.; Salam, A.

    2003-01-01

    This case report presents the clinical picture, diagnostic methodology and surgical treatment of a female child who presented with chronic cough and dyspnoea due to congenital malformation of lung. A discussion of diagnosis and management is presented at the end. (author)

  11. Anorectal injury in pelvic blast.

    Science.gov (United States)

    Brogden, Tom G; Garner, J P

    2013-03-01

    The signature injury of the Afghanistan campaign has, amongst other things, included an increased incidence of destructive anorectal injury. There is no significant body of evidence about this type of injury on which to base management strategies. This review examines the historical military data, later civilian reports, many of which have challenged the military dogmas of Vietnam, and the spartan contemporaneous military data which does not particularly address pelviperineal blast injury. There is no evidence to support a move away from the doctrine of the four D's (diversion, distal washout, drainage and direct repair), but sound surgical judgement remains the mainstay of managing these challenging and highly morbid injuries.

  12. Arteriovenous Malformations

    Science.gov (United States)

    Arteriovenous malformations (AVMs) are defects in your vascular system. The vascular system includes arteries, veins, and capillaries. Arteries carry blood away from the heart to other organs; veins carry blood back to the heart. Capillaries connect the arteries and veins. An ...

  13. Color-coded perfusion analysis of CEUS for pre-interventional diagnosis of microvascularisation in cases of vascular malformations.

    Science.gov (United States)

    Teusch, V I; Wohlgemuth, W A; Piehler, A P; Jung, E M

    2014-01-01

    Aim of our pilot study was the application of a contrast-enhanced color-coded ultrasound perfusion analysis in patients with vascular malformations to quantify microcirculatory alterations. 28 patients (16 female, 12 male, mean age 24.9 years) with high flow (n = 6) or slow-flow (n = 22) malformations were analyzed before intervention. An experienced examiner performed a color-coded Doppler sonography (CCDS) and a Power Doppler as well as a contrast-enhanced ultrasound after intravenous bolus injection of 1 - 2.4 ml of a second-generation ultrasound contrast medium (SonoVue®, Bracco, Milan). The contrast-enhanced examination was documented as a cine sequence over 60 s. The quantitative analysis based on color-coded contrast-enhanced ultrasound (CEUS) images included percentage peak enhancement (%peak), time to peak (TTP), area under the curve (AUC), and mean transit time (MTT). No side effects occurred after intravenous contrast injection. The mean %peak in arteriovenous malformations was almost twice as high as in slow-flow-malformations. The area under the curve was 4 times higher in arteriovenous malformations compared to the mean value of other malformations. The mean transit time was 1.4 times higher in high-flow-malformations compared to slow-flow-malformations. There was no difference regarding the time to peak between the different malformation types. The comparison between all vascular malformation and surrounding tissue showed statistically significant differences for all analyzed data (%peak, TTP, AUC, MTT; p < 0.01). High-flow and slow-flow vascular malformations had statistically significant differences in %peak (p < 0.01), AUC analysis (p < 0.01), and MTT (p < 0.05). Color-coded perfusion analysis of CEUS seems to be a promising technique for the dynamic assessment of microvasculature in vascular malformations.

  14. 21 CFR 346.50 - Labeling of anorectal drug products.

    Science.gov (United States)

    2010-04-01

    ... the following: “hemorrhoids,” “anorectal disorders,” “inflamed hemorrhoidal tissues,” “anorectal inflammation,” “hemorrhoidal tissues,” or “piles (hemorrhoids).”)] (2) Additional indications. Indications... and other anorectal disorders” or “irritation in hemorrhoids and other anorectal disorders”). (B...

  15. Imaging findings of arteriovenous malformations involving lung and liver in hereditary hemorrhagic telangiectasia(Osler-weber-rendu disease): two cases report

    International Nuclear Information System (INIS)

    Yi, Jeong Geun; Lee, Joo Hyuk; Seong, Su Ok

    1999-01-01

    Hereditary hemorrhagic telangiectasia (HHT) or Osler-Weber-Rendu disease is an autosomal dominant disorder characterized by repeated episodes of bleeding. Multiple telangiectases consisting of thin-walled, dilated vascular channels with arteriovenous communication may involve, for example, mucocutaneous tissue, the gastrointestinal tract, and the liver, lung, and brain. We report the imaging findings of two cases of HHT involving arteriovenous malformation of both the lungs and liver, a rare condition. Chest radiography revealed a round mass, while helical CT showed a feeding artery and draining vein with arteriovenous malformation in the lung. Color Doppler sonography revealed an enlarged and tortuous hepatic artery with high systolic velocity. CT demonstrated an enlarged hepatic artery, arteriovenous shunt, and early draining hepatic vein in the liver. Celiac angiography showed arteriovenous malformation

  16. Imaging findings of arteriovenous malformations involving lung and liver in hereditary hemorrhagic telangiectasia(Osler-weber-rendu disease): two cases report

    Energy Technology Data Exchange (ETDEWEB)

    Yi, Jeong Geun; Lee, Joo Hyuk; Seong, Su Ok [Cheongju St. Mary' s Hospital, Cheongju (Korea, Republic of)

    1999-09-01

    Hereditary hemorrhagic telangiectasia (HHT) or Osler-Weber-Rendu disease is an autosomal dominant disorder characterized by repeated episodes of bleeding. Multiple telangiectases consisting of thin-walled, dilated vascular channels with arteriovenous communication may involve, for example, mucocutaneous tissue, the gastrointestinal tract, and the liver, lung, and brain. We report the imaging findings of two cases of HHT involving arteriovenous malformation of both the lungs and liver, a rare condition. Chest radiography revealed a round mass, while helical CT showed a feeding artery and draining vein with arteriovenous malformation in the lung. Color Doppler sonography revealed an enlarged and tortuous hepatic artery with high systolic velocity. CT demonstrated an enlarged hepatic artery, arteriovenous shunt, and early draining hepatic vein in the liver. Celiac angiography showed arteriovenous malformation.

  17. Co-existence of Chiari malformation type I and Epstein-Barr virus meningoencephalitis in a 3-year-old child: case report and review of the literature

    International Nuclear Information System (INIS)

    Solomou, E.K.; Kotsarini, C.; Badra, F.A.; Krepis, A.; Papanastasiou, D.; Patriarcheas, G.

    2005-01-01

    In the present report we describe an unusual case of a 3-year-old girl who was admitted to our hospital with Epstein-Barr virus meningoencephalitis. Brain magnetic resonance imaging revealed diffuse abnormalities in white matter and Chiari I malformation with cervical and thoracic hydro-syringomyelia. (orig.)

  18. Classification of Cortical Brain Malformations

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2008-03-01

    Full Text Available Clinical, radiological, and genetic classifications of 113 cases of malformations of cortical development (MCD were evaluated at the Erasmus Medical Center-Sophia Children's Hospital, Rotterdam, the Netherlands.

  19. A tale of two cases of pulmonary arteriovenous malformation: How they fared after cardiac transplantation.

    Science.gov (United States)

    Wisotzkey, Bethany L; Magyar, Dari L; Jones, Thomas K; Boucek, Robert J; Permut, Lester C; Kemna, Mariska S; Law, Yuk M

    2018-02-01

    In single ventricle patients, aortopulmonary collaterals (APCs) and pulmonary arteriovenous malformations (PAVMs) following superior cavopulmonary shunt (CPS) can complicate orthotopic heart transplant (OHT) by cyanosis and hemoptysis. Although PAVMs can regress with the restoration of hepatic venous flow to the pulmonary circulation, the effects of hypoxemia on the "unconditioned" allograft are not known. Two patients with significant PAVMs after CPS were cyanotic following OHT. One patient with predominantly unilateral left PAVMs had arterial saturation levels less than 70% despite pulmonary vasodilators and ventilation. A custom flow restrictor-covered stent was deployed in the pulmonary artery of the affected side, redirecting the blood flow to the contralateral lung, immediately improving cyanosis. When the PAVMs regressed, the flow restrictor stent was dilated to eliminate the constriction. The second patient with PAVMs had cyanosis and severe hemoptysis from APCs post-OHT. The APCs required an extensive coil embolization, while the cyanosis responded to oxygen and pulmonary vasodilators. Both recipients did well with gradual resolution of PAVMs within 8 months. Despite cyanosis from right-to-left intrapulmonary shunting, allograft function recovered. Novel transcatheter interventions can play a role in patients with significant APCs or PAVM following cardiac transplantation. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  20. Rare association between cystic fibrosis, Chiari I malformation, and hydrocephalus in a baby: a case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Jea Andrew

    2011-08-01

    Full Text Available Abstract Introduction Cystic fibrosis, an epithelial cell transport disorder caused by mutations of the cystic fibrosis transmembrane conductance regulator gene, is not generally associated with malformations of the central nervous system. We review eight previously published reports detailing an infrequent association between cystic fibrosis and Chiari I malformation. Case presentation To the best of our knowledge, our report describes only the ninth case of a baby presenting with a new diagnosis of cystic fibrosis and Chiari I malformation, in this case in a 10-month-old, full-term Caucasian baby boy from the United States of America. Neurosurgical consultation was obtained for associated developmental delay, macrocephaly, bulging anterior fontanel, and papilledema. An MRI scan demonstrated an extensive Chiari I malformation with effacement of the fourth ventricle, obliteration of the outlets of the fourth ventricle and triventricular hydrocephalus without aqueductal stenosis. Our patient was taken to the operating room for ventriculoperitoneal shunt placement. Conclusions It is possible that the cystic fibrosis transmembrane conductance regulator gene may play a previously unrecognized role in central nervous system development; alternatively, this central nervous system abnormality may have been acquired due to constant valsalva from recurrent coughing or wheezing or metabolic and electrolyte imbalances that occur characteristically in cystic fibrosis.

  1. Anorectal complications in patients with haematological malignancies.

    Science.gov (United States)

    Loureiro, Rafaela V; Borges, Verónica P; Tomé, Ana L; Bernardes, Carlos F; Silva, Mário J; Bettencourt, Maria J

    2018-04-13

    Anorectal complications are common in patients with haematological malignancies. The objectives are to characterize anorectal complications in these patients, identify risk factors and shed light on treatment, morbidity and mortality rates. A retrospective, observational study that included 83 inpatients with haematological malignancies and proctological symptoms from January 2010 to September 2015 was conducted. Clinical outcomes were obtained through a detailed review of medical records. The median age was 56 years, and 52 (62.7%) patients were men. Fifty-six (67.5%) patients had nonseptic anorectal complications and 27 (32.5%) patients had septic anorectal complications. Patients with septic anorectal complications were more commonly male, older, and had lower absolute neutrophil counts, but the differences were not statistically significant (P=0.79, 0.67 and 0.89, respectively). In positive blood cultures [23/70 (32.9%)], Enterococcus faecium, Klebsiella pneumonia, and Escherichia coli were the most common isolated agents. In nonseptic anorectal complications, conservative treatments/minor proctological procedures were adopted, and patients with septic anorectal complications were treated with antibiotics±major proctological procedures and/or surgical drainage/debridement. Forty-eight (85.7%) patients in the nonseptic complications group improved compared with 23 (85.2%) patients in the septic complications group. The overall mortality rate was 2.4% (n=2), with one (1.2%) death related to perianal sepsis. Enterococcus spp. were more commonly identified in this study and can be increasing in this specific population. In contrast to other reports, we did not identify an association between septic anorectal complications and possible risk factors such as male sex, younger age or a low absolute neutrophil count. Most patients had nonseptic anorectal complications. A major proctological procedure/surgical debridement should always be applied in septic complications

  2. Massive hematuria due to a congenital renal arteriovenous malformation mimicking a renal pelvis tumor: a case report

    Directory of Open Access Journals (Sweden)

    Sountoulides P

    2008-05-01

    Full Text Available Abstract Introduction Congenital renal arteriovenous malformations (AVMs are very rare benign lesions. They are more common in women and rarely manifest in elderly people. In some cases they present with massive hematuria. Contemporary treatment consists of transcatheter selective arterial embolization which leads to resolution of the hematuria whilst preserving renal parenchyma. Case presentation A 72-year-old man, who was heavy smoker, presented with massive hematuria and flank pain. CT scan revealed a filling defect caused by a soft tissue mass in the renal pelvis, which initially led to the suspicion of a transitional cell carcinoma (TCC of the upper tract, in view of the patient's age and smoking habits. However a subsequent retrograde study could not depict any filling defect in the renal pelvis. Selective right renal arteriography confirmed the presence of a renal AVM by demonstrating abnormal arterial communication with a vein with early visualization of the venous system. At the same time successful selective transcatheter embolization of the lesion was performed. Conclusion This case highlights the importance of careful diagnostic work-up in the evaluation of upper tract hematuria. In the case presented, a congenital renal AVM proved to be the cause of massive upper tract hematuria and flank pain in spite of the initial evidence indicating the likely diagnosis of a renal pelvis tumor.

  3. Ethanol embolization of arteriovenous malformations: results and complications of 33 cases

    International Nuclear Information System (INIS)

    Jeon, Yong Hwan; Do, Young Soo; Shin, Sung Wook; Liu, Wei Chiang; Cho, Jae Min; Lee, Min Hee; Kim, Dong Ik; Lee, Byung Boong; Choo, Sung Wook; Choo, In Wook

    2003-01-01

    To assess the effectiveness of ethanol embolization for the treatment of arteriovenous malformation (AVM), and the complications, if any, arising. Thirty-three patients with AVMs underwent 145 staged sessions of ethanol embolization. AVMs were located in an upper extremity (n=14), a lower extremity (n=10), the pelvis (n=7), the thorax (n=1), or the abdomen (n=1). Eighty-five transcatheter embolizations and 60 direct percutaneous puncture embolizations were performed, and seven patients underwent additional coil embolization of the dilated outflow vein. The therapeutic effectiveness of embolization was evaluated in terms of the extent to which an AVM was obliterated between baseline and the final angiogram. Complications were classified as minor or major. In 13 patients (39%), AVMs were totally obliterated. In eight patients (24%), more than 75% were obliterated; in three (9%), the proportion was 50-75%; and in four (12%), less than 50%. Five patients (15%), were not treated. The reasons for failure were the difficulty of approaching the nidus due to previous surgical ligation or coil embolization of the feeding artery, the subcutaneous location of an AVM, post-procedural infection, and massive bleeding during the follow-up period. Twenty-one minor complications such as focal skin necrosis or transient nerve palsy developed during 145 sessions of (an incidence of 14%), but these were relieved by conservative treatment. The five major complications arising (3%) were cerebral infarction, urinary tract infection, acute renal failure due to rhabdomyolysis, permanent median nerve palsy, and infection. Ethanol embolization by direct percutaneous puncture or using a transcatheter technique is an effective approach to the treatment of an AVM. However, to overcome the considerable number of complications, arising, further investigation is required

  4. Ethanol embolization of arteriovenous malformations: results and complications of 33 cases

    Energy Technology Data Exchange (ETDEWEB)

    Jeon, Yong Hwan; Do, Young Soo; Shin, Sung Wook; Liu, Wei Chiang; Cho, Jae Min; Lee, Min Hee; Kim, Dong Ik; Lee, Byung Boong; Choo, Sung Wook; Choo, In Wook [School of Medicine, Sungkyunkwan Univ., Seoul (Korea, Republic of)

    2003-10-01

    To assess the effectiveness of ethanol embolization for the treatment of arteriovenous malformation (AVM), and the complications, if any, arising. Thirty-three patients with AVMs underwent 145 staged sessions of ethanol embolization. AVMs were located in an upper extremity (n=14), a lower extremity (n=10), the pelvis (n=7), the thorax (n=1), or the abdomen (n=1). Eighty-five transcatheter embolizations and 60 direct percutaneous puncture embolizations were performed, and seven patients underwent additional coil embolization of the dilated outflow vein. The therapeutic effectiveness of embolization was evaluated in terms of the extent to which an AVM was obliterated between baseline and the final angiogram. Complications were classified as minor or major. In 13 patients (39%), AVMs were totally obliterated. In eight patients (24%), more than 75% were obliterated; in three (9%), the proportion was 50-75%; and in four (12%), less than 50%. Five patients (15%), were not treated. The reasons for failure were the difficulty of approaching the nidus due to previous surgical ligation or coil embolization of the feeding artery, the subcutaneous location of an AVM, post-procedural infection, and massive bleeding during the follow-up period. Twenty-one minor complications such as focal skin necrosis or transient nerve palsy developed during 145 sessions of (an incidence of 14%), but these were relieved by conservative treatment. The five major complications arising (3%) were cerebral infarction, urinary tract infection, acute renal failure due to rhabdomyolysis, permanent median nerve palsy, and infection. Ethanol embolization by direct percutaneous puncture or using a transcatheter technique is an effective approach to the treatment of an AVM. However, to overcome the considerable number of complications, arising, further investigation is required.

  5. Imaging and radiological-pathological correlation in histologically proven cases of focal cortical dysplasia and other glial and neuronoglial malformative lesions in adults

    International Nuclear Information System (INIS)

    Gomez-Anson, B.; Thom, M.; Moran, N.; Stevens, J.; Scaravilli, F.

    2000-01-01

    Focal cortical dysplasia (FCD) is a pathological entity first described in 1971. Other more subtle cortical malformations found in patients with epilepsy include microdysgenesis (MD), and glioneuronal hamartias. Although these glial and neuronoglial malformations have distinct histological features, there is terminological confusion in the radiological literature. Few cases have been reported in adults with both imaging and histology. We address these issues, giving a radiological-pathological correlation of histologically proven cortical malformations in adults. We describe clinical, radiological and histological features of 12 cases (five FCD, five MD with glioneuronal hamartias, and two hamartomas), unassociated with other conditions, and discuss them in the light of the literature. FCD is usually seen on MRI as cortical thickening, with or without signal change, which may extend into the adjacent white matter. On histology, abnormal neurons and/or glial cells, blurring of the grey-white matter interface, myelin pallor, demyelination, and gliosis may be found. Glioneuronal hamartias and hamartomas usually appear as complex masses on MRI. FCD and hamartias may be associated, and a combination of imaging findings may be seen on MRI. Atrophy of the ipsilateral hippocampus may be present on MRI in patients with hamartias, and minor cell loss on histology, but not definitive hippocampal sclerosis. Although the imaging findings of cortical malformations are protean, some characteristic MRI features, with histological correlates, may be found. The relevance of most of these observations remains unclear. (orig.)

  6. Embolization of brain arteriovenous malformations: results of 42 cases treated with N. B. C. A. and flow-guided microcatheter

    Energy Technology Data Exchange (ETDEWEB)

    Han, Moon Hee; Chang, Kee Hyun; Kim, Dong Gyu; Lee, Sang Hyung; Han, Dae Hee [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1994-04-15

    We report the results of embolization in 42 cases of brain arteriovenous malformation and discuss the technical problems. Flow-guided microcatheter for the superselection of the feeding arteries and n-butyl cyanoacrylate as an embolic agent were used. Wire-guided microcatheter and microparticle were used in two exceptional cases. As preembolization functional evaluation, 30-50 mg of thiopental sodium solution was injected into the feeding arteries through superselected microcatheters in 40 cases with supratentorial lesions. There was no local arterial complication by injection of thiopental solution. Embolization caused a permanent neurologic deficit(mild to moderated hemiparesis) in 2 patients (4.8%) by a reflux of embolic agent or probable spasm of main arterial trunk. In 8 patients(19%), the AVMs were completely obliterated and 25 patients(60%) showed angiographic obliterations of 50-90% of the lesions. Embolization-induced venous occlusion was demonstrated at post-embolization angiography in 6 patients, and 3 patients of them showed delayed and transient neurologic deficits. Embolization of cerebral AVM can be performed effectively and safely by a superselective method and appropriate functional evaluation. Superselective thiopental sodium injection is a safe and reliable test for the evaluation of local brain function before embolization.

  7. Embolization of brain arteriovenous malformations: results of 42 cases treated with N. B. C. A. and flow-guided microcatheter

    International Nuclear Information System (INIS)

    Han, Moon Hee; Chang, Kee Hyun; Kim, Dong Gyu; Lee, Sang Hyung; Han, Dae Hee

    1994-01-01

    We report the results of embolization in 42 cases of brain arteriovenous malformation and discuss the technical problems. Flow-guided microcatheter for the superselection of the feeding arteries and n-butyl cyanoacrylate as an embolic agent were used. Wire-guided microcatheter and microparticle were used in two exceptional cases. As preembolization functional evaluation, 30-50 mg of thiopental sodium solution was injected into the feeding arteries through superselected microcatheters in 40 cases with supratentorial lesions. There was no local arterial complication by injection of thiopental solution. Embolization caused a permanent neurologic deficit(mild to moderated hemiparesis) in 2 patients (4.8%) by a reflux of embolic agent or probable spasm of main arterial trunk. In 8 patients(19%), the AVMs were completely obliterated and 25 patients(60%) showed angiographic obliterations of 50-90% of the lesions. Embolization-induced venous occlusion was demonstrated at post-embolization angiography in 6 patients, and 3 patients of them showed delayed and transient neurologic deficits. Embolization of cerebral AVM can be performed effectively and safely by a superselective method and appropriate functional evaluation. Superselective thiopental sodium injection is a safe and reliable test for the evaluation of local brain function before embolization

  8. Surgical management of venous malformations.

    Science.gov (United States)

    Loose, D A

    2007-01-01

    Among vascular malformations, the predominantly venous malformations represent the majority of cases. They form a clinical entity and therefore need clear concepts concerning diagnosis and treatment. This paper presents an overview of contemporary classification as well as tactics and techniques of treatment. According to the Hamburg Classification, predominantly venous malformations are categorized into truncular and extratruncular forms, with truncular forms distinguished as obstructions and dilations, and extratruncular forms as limited or infiltrating. The tactics of treatment represent surgical and non-surgical methods or combined techniques. Surgical approaches utilize different tactics and techniques that are adopted based on the pathologic form and type of the malformation: (I) operation to reduce the haemodynamic activity of the malformation; (II) operation to eliminate the malformation; and (III) reconstructive operation. As for (I), a type of a tactic is the operation to derive the venous flow. In (II), the total or partial removal of the venous malformation is demonstrated subdivided into three different techniques. In this way, the infiltrating as well as the limited forms can be treated. An additional technique is dedicated to the treatment of a marginal vein. Approach (III) involves the treatment of venous aneurysms, where a variety of techniques have been successful. Long-term follow-up demonstrates positive results in 91% of the cases. Congenital predominantly venous malformations should be treated according to the principles developed during the past decades in vascular surgery, interventional treatment and multidisciplinary treatment. The days of predominantly conservative treatment should be relegated to the past. Special skills and experiences are necessary to carry out appropriate surgical strategy, and the required operative techniques should be dictated by the location and type of malformation and associated findings.

  9. Contemporary occurrence of hydrocephalus and Chiari I malformation in sagittal craniosynostosis. Case report and review of the literature.

    Science.gov (United States)

    Sgulò, Francesco Giovanni; Spennato, Pietro; Aliberti, Ferdinando; Di Martino, Giuliana; Cascone, Daniele; Cinalli, Giuseppe

    2017-01-01

    Chiari malformation type I (CM-I) and hydrocephalus are often associated with complex craniosynostosis. On the contrary, their simultaneous occurrence in monosutural synostosis is extremely rare. The pathophysiological hypothesis is that they may alter posterior fossa growth and lead to cerebellar tonsil herniation also without skull base primary involvement. Hydrocephalus is multifactorial and may be secondary to fourth ventricle outlet obstruction. The management of these cases is quite complex and not well defined. Cranial vault remodeling should be the only treatment when CM-I is asymptomatic and not related to syringomyelia. Suboccipital decompression should be reserved only in complicated CM-I, usually as a second surgical step following the correction of the supratentorial deformity. In our opinion, the associated hydrocephalus should be treated first in order to normalize intracranial hypertension before opening the cranial sutures. We report the case of a 26-month-old child that presented with sagittal craniosynostosis, hydrocephalus, and CM-I. He was managed by performing endoscopic third ventriculostomy (ETV) first and cranial vault remodeling thereafter. Clinico-radiological outcome was very satisfying. Concerning literature is reviewed; physiopathology and surgical management are discussed.

  10. Headache in children with Chiari I malformation.

    Science.gov (United States)

    Toldo, Irene; Tangari, Marta; Mardari, Rodica; Perissinotto, Egle; Sartori, Stefano; Gatta, Michela; Calderone, Milena; Battistella, Pier Antonio

    2014-05-01

    Headache is the most common symptom of Chiari 1 malformation, a condition characterized by the herniation of cerebellar tonsils through the foramen magnum. However, the headache pattern of cases with Chiari 1 malformations is not well defined in the literature, especially in children. The aim of this retrospective chart review was to evaluate the frequency and the characteristics of headache in children with Chiari 1 malformation at initial evaluation and during follow up. Forty-five cases with tonsillar ectopia were selected among 9947 cases under 18 years of age who underwent neuroimaging between 2002 and 2010. A semistructured clinical interview (mean follow-up: 5.2 years) was conducted. Headache was classified according to the second edition of the International Classification of Headache Disorders. Possible associations between clinical picture, in particular headache pattern, but also other signs and symptoms attributable to Chiari 1 malformation, and the extent of tonsillar ectopia were found for 3 different groups: those with borderline (headache, and 9/33 (27%) of those patients (5 with mild and 4 with severe tonsillar ectopia) reported headache attributed to Chiari 1 malformation. In our studied pediatric population, the most common symptom for cases diagnosed with Chiari 1 malformation was headache, and headache attributed to Chiari 1 malformation was the most common headache pattern in patients with Chiari 1 malformation. The presence of headache attributed to Chiari 1 malformation along with 3 other signs or symptoms of Chiari 1 malformation were highly predictive of severe tonsillar ectopia. © 2014 American Headache Society.

  11. Fetal MRI clues to diagnose cloacal malformations

    Energy Technology Data Exchange (ETDEWEB)

    Calvo-Garcia, Maria A.; Kline-Fath, Beth M.; Patel, Manish N.; Kraus, Steven [Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States); Levitt, Marc A.; Pena, Alberto [Cincinnati Children' s Hospital Medical Center, Colorectal Center for Children, Pediatric Surgery, Cincinnati, OH (United States); Lim, Foong-Yen; Crombleholme, Timothy M. [Cincinnati Children' s Hospital Medical Center, Fetal Care Center of Cincinnati, Pediatric Surgery, Cincinnati, OH (United States); Linam, Leann E. [Arkansas Children' s Hospital, Department of Radiology, Little Rock, AR (United States)

    2011-09-15

    Prenatal US detection of cloacal malformations is challenging and rarely confirms this diagnosis. To define the prenatal MRI findings in cloacal malformations. We performed a retrospective study of patients with cloacal malformations who had pre- and post-natal assessment at our institution. Fetal MRI was obtained in six singleton pregnancies between 26 and 32 weeks of gestation. Imaging analysis was focused on the distal bowel, the urinary system and the genital tract and compared with postnatal clinical, radiological and surgical diagnoses. The distal bowel was dilated and did not extend below the bladder in five fetuses. They had a long common cloacal channel (3.5-6 cm) and a rectum located over the bladder base. Only one fetus with a posterior cloacal variant had a normal rectum. Three fetuses had increased T2 signal in the bowel and two increased T1/decreased T2 signal bladder content. All had renal anomalies, four had abnormal bladders and two had hydrocolpos. Assessment of the anorectal signal and pelvic anatomy during the third trimester helps to detect cloacal malformations in the fetus. The specificity for this diagnosis was highly increased when bowel fluid or bladder meconium content was identified. (orig.)

  12. Is Chiari malformation a cause of systemic hypertension and sinus bradycardia? A case report and literature review

    Directory of Open Access Journals (Sweden)

    Majid Ghasemi

    2011-01-01

    Type I Chiari malformation is a disease mostly caused by congenital displacement of cerebellar tonsils through the fo-ramen magnum. The most common symptom is headache, rarely reported with hypertension or sinus bradycardia.

  13. Radiographic characteristics in congenital scoliosis associated with split cord malformation: a retrospective study of 266 surgical cases.

    Science.gov (United States)

    Feng, Fan; Tan, Haining; Li, Xingye; Chen, Chong; Li, Zheng; Zhang, Jianguo; Shen, Jianxiong

    2017-10-23

    Vertebrae, ribs, and spinal cord are anatomically adjacent structures, and their close relationships are clinically important for planning better corrective surgical approach. The objective is to identify the radiographic characteristics in surgical patients with congenital scoliosis (CS) and coexisting split cord malformation (SCM). A total of 266 patients with CS and SCM underwent surgical treatment at our hospital between May 2000 and December 2015 was retrospectively identified. The demographic distribution and radiographic data were collected to investigate the characteristics of spine curve, vertebral, rib, and intraspinal anomalies. According to Pang's classification, all patients were divided into two groups: type I group is defined as two hemicords, each within a separate dural tube separated by a bony or cartilaginous medial spur, while type II group is defined as two hemicords within a single dural tube separated by a nonrigid fibrous septum. There were 104 patients (39.1%) in Type I group and 162 patients (60.9%) in Type II group. SCM was most commonly found in the lower thoracic and lumbar regions. The mean length of the septum in Type I SCM was significantly shorter than Type II SCM (2.7 vs. 5.2 segments). Patients in Type I group had a higher proportion of kyphotic deformity (22.1%). The vertebral deformities were simple in only 16.5% and multiple in 83.5% of 266 cases. Patients in Type I group presented higher prevalence of multiple (90.4%) and extensive (5.1 segments) malformation of vertebrae. In addition, hypertrophic lamina and bulbous spinous processes were more frequent in Type I group (29.7%), even developing into the "volcano-shape" deformities. Rib anomalies occurred in 62.8% of all patients and 46.1% of them were complex anomalies. The overall prevalence of other intraspinal anomalies was 42.9%. The most common coexisting intraspinal anomalies was syringomyelia (30.5%). The current study, with the largest cohort to date, demonstrated that

  14. A case-control study of maternal periconceptual and pregnancy recreational drug use and fetal malformation using hair analysis.

    Directory of Open Access Journals (Sweden)

    Anna L David

    Full Text Available OBJECTIVE: Maternal recreational drug use may be associated with the development of fetal malformations such as gastroschisis, brain and limb defects, the aetiology due to vascular disruption during organogenesis. Using forensic hair analysis we reported evidence of recreational drug use in 18% of women with a fetal gastroschisis. Here we investigate this association in a variety of fetal malformations using the same method. METHODS: In a multi-centre study, women with normal pregnancies (controls and those with fetal abnormalities (cases gave informed consent for hair analysis for recreational drug metabolites using mass spectrometry. Hair samples cut at the root were tested in sections corresponding to 3 month time periods (pre and periconceptual period. RESULTS: Women whose fetus had gastroschisis, compared to women with a normal control fetus, were younger (mean age 23.78 ± SD4.79 years, 18-37 vs 29.79 ± SD6 years, 18-42, p = 0.00001, were more likely to have evidence of recreational drug use (15, 25.4% vs 21, 13%, OR2.27, 95thCI 1.08-4.78, p = 0.028, and were less likely to report periconceptual folic acid use (31, 53.4% vs 124, 77.5%, OR0.33, 95thCI 0.18-0.63, p = 0.001. Age-matched normal control women were no less likely to test positive for recreational drugs than women whose fetus had gastroschisis. After accounting for all significant factors, only young maternal age remained significantly associated with gastroschisis. Women with a fetus affected by a non-neural tube central nervous system (CNS anomaly were more likely to test positive for recreational drugs when compared to women whose fetus was normal (7, 35% vs 21, 13%, OR3.59, 95th CI1.20-10.02, p = 0.01. CONCLUSIONS: We demonstrate a significant association between non neural tube CNS anomalies and recreational drug use in the periconceptual period, first or second trimesters, but we cannot confirm this association with gastroschisis. We confirm the association of

  15. Congenital cystic lung malformations

    International Nuclear Information System (INIS)

    Stoever, B.; Scheer, I.; Bassir, C.; Chaoui, R.; Henrich, W.; Schwabe, M.; Wauer, R.

    2006-01-01

    Purpose: The aim of the study concerning congenital cystic lung malformations was to evaluate prenatal diagnoses postnatally to determine prognostic factors as well as to define optimized perinatal management. Materials and Methods: The study is based on 45 prenatal ultrasound examinations depicting fetal cystic lung lesions. 32 of the mothers had follow-up examinations. 5 pregnancies were terminated due to CCAM and additional malformations. Complete regression of the lesions was seen prenatally in 8 cases and postnatally in 5 children. Results: Surgical intervention due to respiratory insufficiency was necessary in 4 neonates. According to the imaging results, CCAM was present in 4 cases and sequestration in 7 patients. No correlation between the imaging findings and the surgical results was found in 3 children: One child suffered from rhadomyoid dysplasia, and in the case of the second child, a left-sided hernia of the diaphragm and additional sequestration were detected. The third child showed AV malformation. The cystic lesions of the 14 children operated upon were proven histologically. The degree of accuracy in the present study was high. Conclusion: Precise perinatal management is warranted in order to determine according to the clinical relevance surgical intervention and to prevent complications after the first year of life. This is performed during the neonatal period for respiratory insufficient neonates and within the first year of life for clinically stable children. (orig.)

  16. Arteriovenous malformation of face

    Directory of Open Access Journals (Sweden)

    Ashok Kumar

    2017-01-01

    Full Text Available Arteriovenous malformations (AVMs are rare congenital vascular malformations accounting only 1.5% of all vascular anomalies with 50% occurrence in the oral and maxillofacial region. It usually results from birth defects of the vasculature. A literature search revealed only few case reports of AVMs in the facial region. Lack of meticulous diagnosis, scarcity of knowledge, and paucity of literature can result in their exsanguinations leading to fatal hemorrhagic incidents after various dental procedures such as tooth extraction, surgical intervention, puncture wound, or blunt injury in involved area. The present case describes the accidental diagnosis of asymptomatic high-flow AVMs in the facial region of pediatric patient reported primarily for the treatment of periapical abscess. This case report is unique because although there was no history of bleeding episodes, thorough examination and investigations diagnosed it as high-flow vascular malformation. It is important for the dental practitioner to be aware of AVM which may be present in the head and neck region that can produce fatal bleeding episodes during various dental procedures. Proper diagnosis of AVMs through complete history, precise clinical examination, and advanced imaging modalities can help in preventing serious life-threatening complications.

  17. A case of obstructive hydrocephalus by aqueduct stenosis following gamma knife surgery for arteriovenous malformation around the pineal body

    International Nuclear Information System (INIS)

    Funakoshi, Yusuke; Natori, Yoshihiro; Imamoto, Naoyuki; Inoue, Daisuke; Mori, Megumu; Yamada, Tetsuhisa

    2017-01-01

    Stereotactic radiosurgery, including gamma knife surgery, has been widely performed as minimally invasive treatment for arteriovenous malformation (AVM). While its safety and efficacy have been well reported, some problems also have been reported. Patients who undergo radiosurgery must wait for a few years from the time of treatment and remain exposed to the risk of bleeding until obliteration of the AVM is confirmed, and technical limitations may lead to incomplete administration of the intended treatment. In addition, severe complications are occasionally reported. Here, we present a case of obstructive hydrocephalus caused by aqueductal stenosis in a 63-year-old man who underwent gamma knife surgery for AVM around the pineal body 8 years previously. On visiting our department, he presented with mild disturbance of gait and consciousness. Other physical and neurological examinations were unremarkable. CT demonstrated dilatation of the lateral ventricles and the third ventricle. Because the aqueduct of the midbrain and fourth ventricle were not dilated, obstructive hydrocephalus due to localized aqueductal stenosis was suspected. Endoscopic neurosurgery was performed and stenosis in the aqueduct of the midbrain caused by a membrane-like structure was confirmed. Aqueductal stenosis occurred as a result of inflammation following gamma knife surgery, which extended to the cicatricial tissue and eventually caused a stenosed aqueduct of the midbrain. After the endoscopic third ventriculostomy, the hydrocephalus improved and no recurrence has appeared since. To the best of our knowledge, there have been no previous reports of obstructive hydrocephalus attributable to aqueductal stenosis caused by inflammation following gamma knife surgery. (author)

  18. Type II congenital pulmonary airway malformation associated with intralobar pulmonary sequestration: report of a case and review of classification criteria.

    Science.gov (United States)

    Mastrogiulio, M G; Barone, A; Disanto, M G; Ginori, A; Ambrosio, M R; Carbone, S F; Spina, D

    2016-03-01

    Pulmonary congenital abnormalities are rare disorders including congenital pulmonary airway malformations (CPAM) and pulmonary sequestration (PS). CPAM is a lesion characterized by the presence of anomalous bronchiolar or acinar structures, variable in size, either cystic or not cystic. PS is generally defined as nonfunctioning lung tissue that is not in normal continuity with the tracheobronchial tree and that derives its blood supply from systemic vessels. We describe a case of a baby girl with a very rare association between CPAM type 2 and intralobar pulmonary sequestration (IPS) focusing on the cystic lesions typical of CPAM and on the lymphatic and blood vessels. The cells lining the cysts often were positive for D2-40 (oncofetal protein M2A). Lymphatic endothelial cells, positive for D2-40, were widely present in the lung parenchyma and dilated lymphatic vessels were present also in the inter-alveolar septa. Moreover, we discuss the pathogenesis of CPAM and its classification criteria. © Copyright Società Italiana di Anatomia Patologica e Citopatologia Diagnostica, Divisione Italiana della International Academy of Pathology.

  19. De novo formation of cerebral cavernous malformation in a patient with intractable epilepsy: case report and review.

    Science.gov (United States)

    Colpan, Mustafa Efkan; Uckardesler, Levent; Sekerci, Zeki; Slavin, Konstantin

    2010-07-01

    The exact origin and process of development of cerebral cavernous malformations (CCMs) is currently unknown. In this article, the authors present de novo CCM formation in a patient with intractable epilepsy and discuss the pathogenesis of CCM in light of several current theories. A 34-year-old man presented with a 10-year history of intractable seizures. His neurological examination was normal, and the initial magnetic resonance imaging (MRI) was suggestive of right mesial temporal sclerosis (MTS). Follow-up MRI study showed development of CCM in the right frontal region. Subsequently, invasive monitoring revealed right temporal seizure source, prompting right temporal lobectomy that resulted in abolition of epilepsy. Histological diagnosis of CCM was confirmed after the lesion was removed in a separate surgery. The patient recovered to normal lifestyle without any complications. This appears to be a first documented case of de novo CCM formation in the setting of intractable epilepsy with ipsilateral MTS. Since the possibility of lesion development cannot be ruled out based on clinical examination, updated imaging and thorough neurophysiological workup are needed for successful treatment of patients with intractable epilepsy.

  20. Combined Spinal-Epidural Analgesia for Laboring Parturient with Arnold-Chiari Type I Malformation: A Case Report and a Review of the Literature

    Directory of Open Access Journals (Sweden)

    Clark K. Choi

    2013-01-01

    Full Text Available Anesthetic management of laboring parturients with Arnold-Chiari type I malformation poses a difficult challenge for the anesthesiologist. The increase in intracranial pressure during uterine contractions, coughing, valsalva maneuvers, and expulsion of the fetus can be detrimental to the mother during the process of labor and delivery. No concrete evidence has implicated high cerebral spinal fluid pressure on maternal and fetal complications. The literature on the use of neuraxial techniques for managing parturients with Arnold-Chiari is extremely scarce. While most anesthesiologists advocate epidural analgesia for management of labor pain and spinal anesthesia for cesarean section, we are the first to report the use of combined spinal-epidural analgesia for managing labor pain in a pregnant woman with Arnold-Chiari type I malformation. Also, we have reviewed the literature and presented information from case reports and case series to support the safe usage of neuraxial techniques in these patients.

  1. Fusion of lower limbs with severe urogenital malformation in a newborn, a rare congenital clinical syndrome: case report

    Directory of Open Access Journals (Sweden)

    Al Hadhoud F

    2017-09-01

    Full Text Available Fatemah Al Hadhoud,1 Abeer H Kamal,1 Abdulmohsen Al Anjari,1 Michael FE Diejomaoh1,2 1Department of Obstetrics and Gynecology, Maternity Hospital, 2Department of Obstetrics and Gynecology, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait Background: Fused lower limbs combined with severe urogenital malformation, also known as sirenomelia, is a rare congenital clinical syndrome. The etiology is unknown, and the outcome for the affected fetus is rather uncertain. Case report: Mrs RB, a Kuwaiti woman primigravida, married to a non-consanguineous husband, had uneventful antenatal care in a private health service, until she was admitted to the Maternity Hospital, Kuwait, at 31 weeks of gestation with a 3-hour history of ruptured membranes. She had a negative family history for diabetes mellitus, and her past surgical/medical/gynecological history was noncontributory. General physical examination revealed a healthy parturient with normal vital signs, clear lungs and normal heart sounds. Obstetric examination revealed a fundal height compatible with the gestational age; there was a single living fetus in breech presentation; she was not in labor. The mother was managed conservatively with antibiotics and dexamethasone injections. Labor ensued later, progressing rapidly to the second stage. Assisted breech delivery was performed, and a live baby, birth weight 1570 g and Apgar score 3/9, was delivered. The neonate had multiple congenital abnormalities, including fusion of both lower limbs, ambiguous genitalia, cloacal anomaly and tracheoesophageal fistula. The neonate was admitted to the neonatal intensive care unit, fully investigated, managed medically and surgically and eventually discharged home after a hospital stay of 123 days for further management. Conclusion: A case of peculiar fetal anomaly called sirenomelia, the first case in Kuwait, has been presented. Survival of such babies requires costly management with average results

  2. Rare malformation of glans penis: arteriovenous malformation.

    Science.gov (United States)

    Akin, Y; Sarac, M; Yucel, S

    2013-01-01

    Pediatric glans penis malformations, especially arteriovenous malformations (AVM), are very rare. Herein, we report two rare cases. A 14-year-old boy attended our outpatient clinic with chief complaints of purple swelling and rapidly growing lesion on the glans penis. The lesion was excised surgically after physical and radiological evaluations. Pathology reported AVM and the patient is being followed up. The second case is a 2-year-old boy who was admitted with a big lesion involving glans penis and genital area that has been present since birth. In physical and radiological evaluations, lesion on the glans penis was pulsatile. Parents of the patient did not want any surgery and patient has been in follow-up. Diagnosis of the vascular lesions on glans penis is very easy by physical and radiological examinations today. Long-term follow-up is very important for AVM. Clinicians must make a careful effort to document new glans lesions in the pediatric population and decrease anxiety in the parents of affected children.

  3. [Identification of risk factors for congenital malformations].

    Science.gov (United States)

    Canals C, Andrea; Cavada C, Gabriel; Nazer H, Julio

    2014-11-01

    The relative importance of congenital malformations as a cause of death in the first year of life is increasing along with the control of preventable causes of perinatal mortality. To identify risk factors for congenital malformations. Retrospective case-control study of births registered in the database of The Latin American Collaborative Study of Congenital Malformations (ECLAMC), in the period 2001-2010. Birth weight and gestational age were significantly lower in cases than controls, behaving as risk factors and associated with a greater severity of congenital malformations. The risk and severity of congenital malformations increased along with mother's age. Fetal growth retardation, a history of congenital malformations in the family, physical factors and acute illnesses of the mother in the first trimester of pregnancy were also significant risk factors for congenital malformations and their severity. The educational level of the mother was a protective factor for congenital malformations and their severity. Variables previously identified as risk factors for congenital malformations, were significantly related with the occurrence of congenital malformations and their severity.

  4. The prune belly syndrome in a female foetus with urorectal septum malformation sequence: a case report on a rare entity with an unusual association.

    Science.gov (United States)

    Goswami, Dibyajyoti; Kusre, Giriraj; Dutta, Hemonta Kumar; Sarma, Adity

    2013-08-01

    The prune belly syndrome is a rare congenital anomaly which is characterized by the triad of an absent or a deficient development of the abdominal muscle, bilateral cryptorchidism and an anomalous urinary tract. In its full form, this condition occurs only in males. However, a similar condition occurs in females in the absence of cryptorchidism. On the other hand, the urorectal septum malformation sequence is a lethal congenital malformation which is characterized by the development of a phallus like structure, a smooth perineum and the absence of urethral, vaginal and anal openings. We are reporting a case of a female foetus with the prune belly syndrome, which was associated with a urorectal septum malformation sequence. A dead foetus with a protruded abdomen and ambiguous genitalia, was born at 32 weeks of pregnancy. On autopsy, it was found to have female internal genital organs. The left kidney, the urinary bladder and the rectum were absent. The sigmoid colon, the ureters and the fallopian tubes opened into a common cloacal sac. The histopathological examination of the ovary showed the presence of Leydig's cells. The occurrence of the female counterpart of the prune belly syndrome is extremely rare and only few of such cases were found to be discussed in the details in the indexed English literature so far. Hence, we hope that this case report will contribute to the existing knowledge on the prune belly syndrome.

  5. A case report of spinal dural arteriovenous fistula: origins, determinants, and consequences of abnormal vascular malformations

    Directory of Open Access Journals (Sweden)

    Sherry M. Zakhary, DO

    2017-06-01

    Full Text Available A spinal dural arteriovenous fistula is an abnormally layered connection between radicular arteries and venous plexus of the spinal cord. This vascular condition is relatively rare with an incidence of 5–10 cases per million in the general population. Diagnosis of spinal dural arteriovenous fistula is differentiated by contrast-enhanced magnetic resonance angiography or structural magnetic resonance imaging, but a definitive diagnosis requires spinal angiography methods. Here, we report a case of a 67-year-old female with a spinal dural arteriovenous fistula, provide a pertinent clinical history to the case nosology, and discuss the biology of adhesive proteins, chemotactic molecules, and transcription factors that modify the behavior of the vasculature to possibly cause sensorimotor deficits.

  6. A case report of spinal dural arteriovenous fistula: origins, determinants, and consequences of abnormal vascular malformations.

    Science.gov (United States)

    Zakhary, Sherry M; Hoehmann, Christopher L; Cuoco, Joshua A; Hitscherich, Kyle; Alam, Hamid; Torres, German

    2017-06-01

    A spinal dural arteriovenous fistula is an abnormally layered connection between radicular arteries and venous plexus of the spinal cord. This vascular condition is relatively rare with an incidence of 5-10 cases per million in the general population. Diagnosis of spinal dural arteriovenous fistula is differentiated by contrast-enhanced magnetic resonance angiography or structural magnetic resonance imaging, but a definitive diagnosis requires spinal angiography methods. Here, we report a case of a 67-year-old female with a spinal dural arteriovenous fistula, provide a pertinent clinical history to the case nosology, and discuss the biology of adhesive proteins, chemotactic molecules, and transcription factors that modify the behavior of the vasculature to possibly cause sensorimotor deficits.

  7. Rectal duplications accompanying rectovestibular fistula: report of two cases.

    Science.gov (United States)

    Pampal, Arzu; Ozbayoglu, Asli; Kaya, Cem; Pehlivan, Yildiz; Poyraz, Aylar; Ozen, I Onur; Percin, Ferda E; Demirogullari, Billur

    2013-08-01

    Rectal duplication (RD) cysts are rare congenital anomalies that can be diagnosed with the presence of another opening in the perineum. They seldom accompany anorectal malformations (ARM). Two cases of RD accompanying ARM at opposite ends of the phenotypic spectrum, are described. A 3-month-old baby and a 2-year-old girl with ARM were scheduled for posterior sagittal anorectoplasty. The infant had an orifice at the anal dimple and the other had an orifice at the vestibulum posterior to the rectovestibular fistula. The infant presented with no other anomalies whereas the older one presented with an unusual coexistence of caudal duplication and caudal regression syndromes. Perioperatively both orifices were found to be related to retrorectal cysts, and were excised. Clinicians should always be alert when dealing with complex malformations. Because these malformations have variable anatomical and clinical presentations, they can represent a diagnostic and therapeutic challenge. © 2013 The Authors. Pediatrics International © 2013 Japan Pediatric Society.

  8. Congenital cystic adenomatoid malformation of the lung. Presentation of 16 cases

    Energy Technology Data Exchange (ETDEWEB)

    Beluffi, G. (IRCCS Politechnico S. Matteo, Pavia (Italy)); Brokensha, C. (Alder Hey Children' s Hospital, Liverpool (UK)); Kozlowski, K. (Royal Alexandra Hospital for Children, Sydney (Australia)); Lucaya, J. (Ciudad Sanitaria de la Seguridad Social, Barcelona (Spain). Clinica Infantil); Masel, J. (Royal Children' s Hospital, Brisbane (Australia)); Morris, L. (Adelaide Children' s Hospital (Australia)); Rosso, R. (Pavia Univ. (Italy). Inst. of Anatomic Patology); Stronati, M. (Pavia Univ. (Italy). Div. of Neonatal Pathology); Thomson, R. (Princess Margaret Hospital for Children, Perth (Australia))

    1989-05-01

    Sixteen cases of CCAM are presented, one with bilateral disease, diagnosed at different times, and one with an associated prune belly syndrome, to be added to the 405 already reported in the literature, and their clinical, radiological and pathological features are described. (orig./MG).

  9. [Anorectal pain in children: rare or rarely recognised?].

    Science.gov (United States)

    Sonneveld, Laura J H; Engelberts, Adèle C; van den Elzen, Annette P M

    2016-01-01

    Anorectal pain is a common symptom, often as part of functional gastrointestinal disorders. Children seldom present with this complaint. Proctalgia fugax and chronic proctalgia are both anorectal pain syndromes but differ in duration and frequency of episodes and in pain characteristics. No research has been conducted on anorectal pain syndromes in children. We present two patients. Firstly, an 8-year-old girl who suffered from anorectal cramps. We found no underlying cause apart from constipation. The symptoms disappeared spontaneously. The second concerned an 8-year-old boy who presented with recurrent anorectal cramps. He was diagnosed with celiac disease. Anorectal dysfunction and visceral hypersensitivity have been described in adult celiac patients. Symptoms of anorectal pain in children are rare probably because it often remains unrecognised. Noninvasive diagnostic methods and interventions are preferred in paediatric medicine. Screening for celiac disease in children with anorectal pain episodes should be considered.

  10. Skeletal malformations in fetuses with Meckel syndrome

    DEFF Research Database (Denmark)

    Kjaer, K W; Fischer Hansen, B; Keeling, J W

    1999-01-01

    one foot was normal. Malformations of the cranial base (the basilar part of the occipital bone or the postsphenoid bone) occurred in five cases, and the vertebral bodies in the lumbar region of the spine were malformed (cleft) in three cases. It is proposed that a skeletal analysis be included...

  11. Twelve-year prevalence of common neonatal congenital malformations in Zhejiang Province, China.

    Science.gov (United States)

    Sun, Ge; Xu, Zhe-Ming; Liang, Jian-Feng; Li, Lin; Tang, Da-Xing

    2011-11-01

    One of the challenges that pediatricians face when examining birth defects is to understand the trends in its occurrence and provide clues to etiology. This study was undertaken to retrospectively assess the prevalence of 10 common neonatal congenital malformations by reviewing a database of all deliveries from 28 weeks up until 7 days of birth from January 1998 to December 2009 in Zhejiang Province, China. Ten common neonatal congenital malformations were selected for analysis. The incidence and the Cochran-Armitage Trend were assessed via SAS9.2. A P value ≤0.05 was considered statistically significant. Of 83 888 perinatals, 374 (4.46‰) suffered from congenital heart diseases (CHD), 77 (0.92‰) from congenital hydrocephalus, 32 (0.38‰) from intestinal atresia/stenosis, 36 (0.43‰) from anorectal malformations, 149 (1.78‰) from kidney malformations, 139 (3.31‰) from hypospadias (male), 178 (2.12‰) from orofacial clefts (OFC), 188 (2.24‰) from polydactyly, 62 (0.74‰) from syndactyly, and 269 (3.21‰) from accessory auricle anomaly. Their trend of prevalence varied as follows: CHD, P=0.0026; hydrocephalus, P=0.0042; intestinal atresia/stenosis, P=0.0103; anorectal malformations, P=0.4332; kidney malformations, Pmalformations (Pmalformations (P=0.4332), polydactyly (P=0.0867) and syndactyly (P=0.1941). The incidences of CHD, intestinal atresia/stenosis, kidney malformations, hypospadias, OFC, and accessory auricle anomaly have increased in the last 12 years, but the incidences of anorectal malformations, polydactyly and syndactyly remain stable. The incidence of hydrocephalus shows a downward trend.

  12. Treatment and outcomes of anorectal melanoma.

    LENUS (Irish Health Repository)

    Heeney, Anna

    2012-02-01

    INTRODUCTION: anorectal melanoma is an uncommon disease constituting less than 3% of all melanomas. Due to its rarity, there are a lack of randomized control trials regarding appropriate management and current evidence is based mainly on retrospective studies. METHODS: in view of the controversial surgical treatment of anorectal melanoma, we review the most published literature in an attempt to elucidate its typical clinical features along with current thinking with respect to management approaches to this aggressive disease. Using the keywords "anorectal" and "malignant melanoma", a medline search of all articles in English was performed and the relevant articles procured. Additional references were retrieved by cross reference from key articles. RESULTS: anorectal melanoma affects the elderly with a slight preponderance for females. It commonly presents disguised as benign disease with local bleeding or suspicion for haemorrhoidal disease. There is no convincing evidence to indicate that radical resection of primary anorectal melanoma is associated with improvement in local control or survival, and local excision is an acceptable treatment option. CONCLUSION: optimum management depends on several factors and the therapeutic goals should be to lengthen survival and preserve quality-of-life. Given that wide local excision is a more limited intervention with comparable survival it should be considered as the initial treatment choice. Unfortunately prognosis for patients with this disease remains poor despite choice of treatment strategy with overall five year disease-free survival less than twenty percent in most studies.

  13. Prenatal Diagnosis of a Case of Norrie Disease with Late Development of Bilateral Ocular Malformation.

    Science.gov (United States)

    Wu, Li Hong; Chen, Li-Hong; Xie, Hongning; Xie, Ying-Jun

    2017-06-01

    We report a case of Norrie disease, diagnosed by prenatal ultrasound, confirmed by Sanger sequencing of the DNP gene from the aborted fetal cord blood and histologically. Prenatal ultrasound revealed no abnormality in either eye at 22 +1 and 31 +4 gestational weeks, but at 36 +5 gestational weeks both eyes had massive vitreous cavity opacities with complete retinal detachment. Norrie disease was initially suspected because of an older male sibling with the disease. To our knowledge, prenatal ultrasound diagnosis of Norrie disease has been previously described only one case in 1993 in a 34-week-old fetus. The normal eye development until after 31 + 4 gestational weeks provides insight into the first manifestation and then the rapid progression of the eye disease.

  14. A case report of spinal dural arteriovenous fistula: origins, determinants, and consequences of abnormal vascular malformations

    OpenAIRE

    Zakhary, Sherry M.; Hoehmann, Christopher L.; Cuoco, Joshua A.; Hitscherich, Kyle; Alam, Hamid; Torres, German

    2017-01-01

    A spinal dural arteriovenous fistula is an abnormally layered connection between radicular arteries and venous plexus of the spinal cord. This vascular condition is relatively rare with an incidence of 5–10 cases per million in the general population. Diagnosis of spinal dural arteriovenous fistula is differentiated by contrast-enhanced magnetic resonance angiography or structural magnetic resonance imaging, but a definitive diagnosis requires spinal angiography methods. Here, we report a cas...

  15. Pre-operative MRI of anorectal anomalies in the newborn period

    International Nuclear Information System (INIS)

    McHugh, K.; Dudley, N.E.; Tam, P.

    1995-01-01

    Nine infants (six boys, three girls) with anorectal anomalies were examined in the immediate newborn period, prior to corrective surgery, with MRI. Three high, one intermediate and five low anomalies were found at MRI - one patient with a 'low' lesion was subsequently found at surgery 2 months later to have a high anorectal anomaly. This infant had passed meconium per urethram soon after the MRI study, prompting the need for a protective colostomy and stressing the importance of a thorough clinical examination of babies with anorectal malformations. The MRI results and findings at surgery were in agreement in all other patients (n=8). Hydronephrosis was evident in two and renal agenesis in one patient. Sacrococcygeal hypoplasia was found in two and two hemivertebrae in one infant. No spinal cord lesion was identified. One fistula was evident on MRI but four were later found at surgery. Uniformly hyperintense T1 signal meconium was seen in all nine newborns, allowing for easy differentiation of rectal contents from rectal wall and the adjacent musculature. MRI can provide useful information regarding the development of the puborectal and external anal sphincter muscles, can help guide the pull-through procedure and help predict future continence pre-operatively in the newborn period. (orig.)

  16. Pre-operative MRI of anorectal anomalies in the newborn period

    Energy Technology Data Exchange (ETDEWEB)

    McHugh, K. [Dept. of Radiology, John Radcliffe Hospital, Oxford (United Kingdom); Dudley, N.E. [Dept. of Paediatric Surgery, John Radcliffe Hospital, Oxford (United Kingdom); Tam, P. [Dept. of Paediatric Surgery, John Radcliffe Hospital, Oxford (United Kingdom)

    1995-11-01

    Nine infants (six boys, three girls) with anorectal anomalies were examined in the immediate newborn period, prior to corrective surgery, with MRI. Three high, one intermediate and five low anomalies were found at MRI - one patient with a `low` lesion was subsequently found at surgery 2 months later to have a high anorectal anomaly. This infant had passed meconium per urethram soon after the MRI study, prompting the need for a protective colostomy and stressing the importance of a thorough clinical examination of babies with anorectal malformations. The MRI results and findings at surgery were in agreement in all other patients (n=8). Hydronephrosis was evident in two and renal agenesis in one patient. Sacrococcygeal hypoplasia was found in two and two hemivertebrae in one infant. No spinal cord lesion was identified. One fistula was evident on MRI but four were later found at surgery. Uniformly hyperintense T1 signal meconium was seen in all nine newborns, allowing for easy differentiation of rectal contents from rectal wall and the adjacent musculature. MRI can provide useful information regarding the development of the puborectal and external anal sphincter muscles, can help guide the pull-through procedure and help predict future continence pre-operatively in the newborn period. (orig.)

  17. [The supportive outcome of periodontal non-surgical therapy to severe chronic periodontitis accompanied with malformed lingual groove in lateral incisor for 6 years: a case report].

    Science.gov (United States)

    Li, Zheng; Kang, Jun

    2011-06-01

    To track the initiating and developing process of one case diagnosed as chronic periodontitis accompanied with malformed lingual groove in maxillary lateral incisor and report the long-term prognosis to the periodontal conservative and supportive therapy. The patient was diagnosed with mild chronic periodontitis 6 years ago and accepted routine periodontal scaling and root planning (SRP) plus supportive periodontal therapy (SPT) one time. Two years later the periodontal condition deteriorated by deep pockets in molars and severe bone destruction around the maxillary lateral incisor with malformed lingual groove. After SRP in sites which pocket depth more than 4mm plus root canal therapy and lingual groove plasty of maxillary right lateral incisor, the SPT regularly proceeded at 3rd, 6th and 12th month. At present the whole periodontal tissue was healthy, the bone lesion around maxillary lateral incisor recovered well, the tooth had no mobile, the cosmetic effect andtooth function was in good state, and the patient was very satisfied.

  18. Early diagnosis of congenital vascular malformation as a condition to rapid prevention of complications – case study

    Directory of Open Access Journals (Sweden)

    Dominika Jaguś

    2017-06-01

    Full Text Available Klippel–Trénaunay syndrome is a rare congenital condition characterised by a triad of symptoms: capillary-lymphatic-venous malformations, varicose veins and venous malformations as well as soft tissue and skeletal hypertrophy of the affected limb. In this article, we present a case of a 5-year-old boy with extensive vascular malformations of the lower limbs and the buttock region. In this case, manifestation of all three symptoms was gradual. At the age of 4 years, the patient was admitted to the Department of Imaging Diagnostics for further diagnosis, where the triad characteristic for Klippel–Trénaunay syndrome and popliteal vein agenesis were diagnosed. Currently, a multidisciplinary team takes care of the boy in the Children’s Memorial Health Institute. Early and accurate diagnosis allows for rapid prevention of complications associated with Klippel–Trénaunay syndrome and enables patient-tailored treatment.

  19. Genetics Home Reference: capillary malformation-arteriovenous malformation syndrome

    Science.gov (United States)

    ... Institute: How the Heart Works National Institute of Neurological Disorders and Stroke: Arteriovenous Malformation Educational Resources (7 links) Boston Children's Hospital: Arteriovenous Malformation Boston Children's Hospital: Capillary Malformation ...

  20. A Case Report of Onyx Pulmonary Arterial Embolism Contributing to Hypoxemia During Awake Craniotomy for Arteriovenous Malformation Resection.

    Science.gov (United States)

    Tolly, Brian T; Kosky, Jenna L; Koht, Antoun; Hemmer, Laura B

    2017-02-15

    A healthy 26-year-old man with cerebral arteriovenous malformation underwent staged endovascular embolization with Onyx followed by awake craniotomy for resection. The perioperative course was complicated by tachycardia and severe intraoperative hypoxemia requiring significant oxygen supplementation. Postoperative chest computed tomography (CT) revealed hyperattenuating Onyx embolization material within the pulmonary vasculature, and an electrocardiogram indicated possible right heart strain, supporting clinically significant embolism. With awake arteriovenous malformation resection following adjunctive Onyx embolization becoming increasingly employed for lesions involving the eloquent cortex, anesthesiologists need to be aware of pulmonary migration of Onyx material as a potential contributor to significant perioperative hypoxemia.

  1. A case of pancreatic arteriovenous malformation with portal hypertension: treatment with transjuguIar intrahepatic portosystemic shunt

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Seong Hoon; Kim, Young Whan; Kim, Yong Joo [School of Medicine, Kyungpook National Univ., Daegu (Korea, Republic of)

    2004-03-01

    Arteriovenous malformation of the pancreas is a rare disease, and it is manifested by gastrointestinal bleeding and/or portal hypertension. Surgery is definitely the treatment of choice at the early stage of the disease, and a transcatheter embolization is an alternative treatment for the control of bleeding and if the lesion is surgically inaccessible. We describe a 62-year-old man who had refractory ascites and esophageal variceal bleeding caused by a pancreatic arteriovenous malformation associated with portal hypertension; this was successfully treated by a transjugular intrahepatic portosystemic shunt.

  2. A case of pancreatic arteriovenous malformation with portal hypertension: treatment with transjuguIar intrahepatic portosystemic shunt

    International Nuclear Information System (INIS)

    Kim, Seong Hoon; Kim, Young Whan; Kim, Yong Joo

    2004-01-01

    Arteriovenous malformation of the pancreas is a rare disease, and it is manifested by gastrointestinal bleeding and/or portal hypertension. Surgery is definitely the treatment of choice at the early stage of the disease, and a transcatheter embolization is an alternative treatment for the control of bleeding and if the lesion is surgically inaccessible. We describe a 62-year-old man who had refractory ascites and esophageal variceal bleeding caused by a pancreatic arteriovenous malformation associated with portal hypertension; this was successfully treated by a transjugular intrahepatic portosystemic shunt

  3. Human fetal malformations associated with the use of an angiotensin II receptor antagonist: Case Report

    Directory of Open Access Journals (Sweden)

    Henri Augusto Korkes

    2014-09-01

    Full Text Available Introduction: The potential risks related to drug exposure during pregnancy represent a vast chapter in modern obstetrics and data regarding the safety of antihypertensive drugs during pregnancy are relatively scarce. Case report: A 37-year-old patient discovered her fifth pregnancy at our hospital after 26 weeks and 4 days of gestation. She reported a history of hypertension and was currently being treated with Losartan. Hospitalization was recommended for the patient and further evaluation of fetal vitality was performed. On the fourth day an ultrasound was performed, resulting in a severe oligohydramnios, fetal centralization and abnormal ductus venosus. After 36 hours, the newborn died. Pathologic evaluation: At autopsy, the skullcap had large fontanels and deficient ossification. The kidneys were slightly enlarged. A microscopic examination detected underdevelopment of the tubules and the presence of some dilated lumens. Immunohistochemical detection of epithelial membrane antigen was positive. Immunoreactivity of CD 15 was also assayed to characterize the proximal tubules, and lumen collapse was observed in some regions. Discussion: Angiotensin-converting enzyme inhibitors (ACEIs and angiotensin receptor antagonists (ARAs are among the most widely prescribed drugs for hypertension. They are often used by hypertensive women who are considering become pregnant. While their fetal toxicity in the second or third trimesters has been documented, their teratogenic effect during the first trimester has only recently been demonstrated. Conclusion: Constant awareness by physicians and patients should be encouraged, particularly in regard to the prescription of antihypertensive drugs in women of childbearing age who are or intend to become pregnant.

  4. Congenital Malformations Associated with Maternal Diabetes

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2005-03-01

    Full Text Available Maternal diabetes has toxic effects on the development of the embryo and significantly increases the risk of congenital malformations in humans. The incidence of fetal structural defects caused by maternal pregestational diabetes is three- to fourfold higher than that caused by non-diabetic pregnancy. The congenital malformations associated with diabetic pregnancy arise before the seventh gestational week. Diabetic embryopathy can affect any developing organ system, including the central nervous system (CNS (anencephaly, spina bifida, microcephaly, and holoprosencephaly, skeletal system (caudal regression syndrome, sacral agenesis, and limb defects, renal system (renal agenesis, hydronephrosis, and ureteric abnormalities, cardiovascular system (transposition of the great vessels, ventricular septal defects, atrial septal defects, coarctation of the aorta, cardiomyopathy, and single umbilical artery, and gastrointestinal system (duodenal atresia, anorectal atresia, and small left colon syndrome. Pregnant women with fetuses with diabetic embryopathy may have chronic or unrecognized hyperglycemia and elevated levels of glycerated hemoglobin. This review emphasizes the necessity to consider hyperglycemia-induced teratogenesis during genetic counseling of parents with prenatally detected fetal malformations. Successful preconception counseling for women with diabetes mellitus and metabolic control will reduce birth defects and maternal morbidity.

  5. Vascular malformations in pediatrics

    International Nuclear Information System (INIS)

    Reith, W.; Shamdeen, M.G.

    2003-01-01

    Vascular malformations are the cause of nearly all non-traumatic intracranial hemorrhage in children beyond the neonatal stage. Therefore, any child presenting with spontaneous intracranial hemorrhage should be evaluated for child abuse and for vascular malformations. Intracerebral malformations of the cerebral vasculature include vein of Galen malformations, arteriovenous malformation (AVM), cavernomas, dural arteriovenous fistulas, venous anomalies (DVA), and capillary teleangiectasies. Although a few familial vascular malformation have been reported, the majority are sporadic. Clinical symptoms, diagnostic and therapeutic options are discussed. (orig.) [de

  6. Activity patterns in malformed fetuses.

    Science.gov (United States)

    Rayburn, W F; Barr, M

    1982-04-15

    Knowledge of a malformed fetus before the onset of labor would assist the physician in preparing the expectant parents, managing the timing and method of delivery, and preparing for the immediate care of a salvageable infant. This 3-year prospective investigation compared the activity patterns of fetuses who were later found to have major malformation with those of fetuses who had no apparent defects. Fetal motion over prolonged periods was determined by daily charting of fetal movement by the mother. Although not a reliable predictor for all malformations, evidence of fetal inactivity was found to be more common (p less than 0.0001) among fetuses with anomalies (16 of 58 cases, 28%) than among those with no defects (39 of 1,098 cases, 4%). All malformations associated with fetal inactivity were strongly suspected ultrasonographically and included hydrocephalus, gastroschisis, nonimmune hydrops, bilateral renal agenesis, and bilateral dislocation of the hips. Documentation of fetal inactivity is helpful in recognizing certain major malformations and constitutes grounds for more detailed study by ultrasonography.

  7. [Anorectal manifestations of sexually transmitted infections].

    Science.gov (United States)

    Lautenschlager, Stephan

    2013-07-01

    The incidence of sexually transmitted infections is rising in Europe and in Switzerland since the beginning of the third millenium. Many organisms may affect the perianal skin and the anorectum. While some of these infections are a result of contigous spread from genital infection, most result from receptive anal intercourse affecting males who have sex with males but is seen increasingly in females as well since there is evidence of the increasing popularity of anal sex among heterosexuals. The symptoms of specific infections are largely dependent on the route and site of inoculation. Organisms that cause typical genital symptoms - such as syphilis, chancroid, herpes simplex or HPV-infection - result in similar symptoms when the perianal skin, the anoderm or the distal anal canal are the site of infection. Patients with proctitis may have unspecific signs in various degrees including mucous discharge, rectal bleeding, anorectal pain, superficial ulcers and sometimes generalized lymphadenopathy and fever. It is of utmost importance to include STIs (e. g. lymphogranuloma venereum, gonorrhea, non-LGV-chlamydia and herpes simplex) in the differential diagnosis in these patients. Unfortunately rectal infection with chlamydia and gonorrhea is asymptomatic in the majority of cases of men having sex with men and in high-risk females. A careful history and physical examination is essential in establishing a correct diagnosis, usually supported by proctoscopy, culture, PCR, serology and histology. Certain organisms, more commonly thought of as food- or water-borne disease may be sexually transmitted by direct or indirect fecal-oral contact from various sexual practices.

  8. Prevalence of Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Akhavan Karbasi Sedighah

    2009-05-01

    Full Text Available Congenital malformation (CM will begin to emerge as one of the major childhood health problems .Treatment and rehabilitation of children with congenital malformations are costly and complete recovery is usually impossible. The aim of this study was to determine frequency of CM in Yazd central city of the Islamic Republic of Iran to find out if there has been any difference in the rate and types of CM in this area. This descriptive-observational study carried on 4800 births delivered at all maternity hospitals in Yazd from October 2003 to June 2004. Prevalence of CM was 2.83% (2.86 % in male and 2.68 % in female out of the 136 cases 69(51.88% were males and 64 (48.12% were females and 3 with ambiguous genitalia. Positive family history of CM in sibling was in only 6 cases (4.41%.Overall, musculoskeletal (0.83%, central nerv-ous system (0.47% and genital system (0.37% were accounted as the most common. Frequency of CM was more seen in still birth (12.5% as in comparison to live birth (2.71%. There was not statistical difference be-tween prevalence of CM and neonatal's gender, gestational age, birth order and mother's age, drug ingestion, illness and parental consanguinity. In this study the overall prevalence of congenital malformation among the newborn was higher than those previous reported in Iran and determining the causes of this difference needs more extensive studies.

  9. Perinatal outcome of obvious congenital malformation as seen at the ...

    African Journals Online (AJOL)

    Gastrointestinal, central nervous and musculo-skeletal system malformations were the commonest seen with individual incidences of 3.9, 3.5 and 2.1 per 1000 total births, respectively. Unclassified congenital malformations had the highest case fatality while central nervous system malformations constituted the commonest ...

  10. Successful management with glue injection of arterial rupture seen during embolization of an arteriovenous malformation using a flow-directed catheter: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Hong, Jong Won; Baik, Seung Kug; Shin, Mi Jung; Choi, Han Yong; Kim, Bong Gi [Wallace Memorial Baptist Hospital, Pusan (Korea, Republic of)

    2000-12-01

    We present a case in which an arterial rupture occurring during embolization of an arteriovenous malformation of the left occipital lobe with a flow-directed micro-catheter, was successfully sealed with a small amount of glue. We navigated a 1.8-Fr Magic catheter through the posterior cerebral artery, and during superselective test injection, extravasation was observed at the parieto-occipital branch. The catheter was not removed and the perforation site was successfully sealed with a small amount of glue injected through the same catheter. Prompt recognition and closure of the perforation site is essential for good prognosis. (author)

  11. An Atypical Presentation of Congenital Pulmonary Airway Malformation (CPAM): A Rare Case with Antenatal Ultrasound Findings and Review of Literature.

    Science.gov (United States)

    Gautam, Munnangi Satya; Naren Satya, Srinivas M; Prathyusha, Ivvala Sai; Reddy, K Hema Chandra; Mayilvaganan, Kamala Retnam; Raidu, Deepthi

    2017-01-01

    Congenital pulmonary airway malformation (CPAM) is a relatively rare congenital anomaly with a wide spectrum of ultrasound features depending on the specific variety of CPAM. Antenatal ultrasound is a valuable, safe, nonionizing, cost-effective, widely available and easily reproducible imaging tool and is indispensable in the diagnosis of CPAM. In this paper, we aimed to report an atypical imaging presentation of CPAM type II in the second trimester, extensively involving all lobes of the left lung. A 25-year-old G1P0A0 woman with a gestational age of around 22 weeks was referred for an anomaly scan. The antenatal ultrasound scan showed a single, live, intrauterine foetus corresponding to a gestational age of around 22 weeks and 4 days. There were multiple, anechoic structures noted within the pulmonary tissue in the left hemithorax, each measuring around 3 to 4 mm in diameter. The lesion was extending from the left lower lobe up to the apical (apicoposterior) segment of the left upper lobe. The ultrasound diagnosis of congenital pulmonary airway malformation type II was made. After explaining the condition and the poor prognosis to the patient, an informed consent was obtained after she opted for medical termination of pregnancy. Congenital pulmonary airway malformation (CPAM) is an uncommon foetal anomaly with a very wide range of ultrasound appearances depending on the specific type of CPAM. CPAM also has a wide spectrum of differential diagnoses and a variable prognosis. Antenatal ultrasound should always be the primary mode of diagnosis in CPAM.

  12. Malformações congênitas do pâncreas: um caso clínico Congenital pancreas malformations: a clinical case report

    Directory of Open Access Journals (Sweden)

    Ana Bento

    2013-02-01

    Full Text Available OBJETIVO: Este trabalho tem por objetivo fazer uma revisão da malformação congênita denominada de agenesia dorsal do pâncreas (ADP e de outras malformações congênitas pancreáticas, com base em um caso clínico raro e exemplar da problemática das malformações pancreáticas. Pretende-se rever a informação mais recente publicada na literatura nacional e internacional acerca das malformações congênitas pancreáticas e investigar a diversidade de formas de apresentação clínica da ADP e de outras malformações congênitas do pâncreas. Pretende-se saber em que situações há indicação terapêutica, qual a altura mais adequada de intervir, quais as modalidades disponíveis para o tratamento médico e ou cirúrgico das malformações congênitas pancreáticas. RESULTADOS: A ADP é uma malformação muito rara que surge durante a organogênese. Nas últimas décadas, foi produzido um volume importante de informação genética e embriológica que ajuda a compreender as causas das malformações pancreáticas. As malformações pancreáticas têm de ser estudadas e compreendidas no seu conjunto. CONCLUSÃO: A malformação pancreática é uma causa de pancreatite aguda e crônica no adulto, pouco estudada. A possibilidade da existência de malformações pancreáticas deve estar sempre presente em doentes com pancreatite aguda ou crônica sem causa evidente.OBJECTIVE: This study aimed to review the congenital malformation known as agenesis of the dorsal pancreas (ADP and other pancreatic birth defects, based on a rare and exemplary clinical case of pancreatic malformations. The intent was to review the latest information published in the national and international literature on pancreatic birth defects, and to investigate the diversity of clinical presentations of ADP and other congenital pancreas abnormalities. The purpose was to identify which situations have therapeutic indication, the most appropriate time to institute

  13. Arteriovenous Malformation of the Pancreas

    Directory of Open Access Journals (Sweden)

    Alexandros Charalabopoulos

    2011-01-01

    Full Text Available Pancreatic arteriovenous malformation (PAVM is a very rare and mostly congenital lesion, with less than 80 cases described in the English-published literature. It is defined as a tumorous vascular abnormality that is constructed between an anomalous bypass anastomosis of the arterial and venous networks within the pancreas. It represents about 5% of all arteriovenous malformations found in the gastrointestinal tract. Herein, we present a 64-year-old patient with symptomatic PAVM involving the body and tail of the organ, which was successfully treated by transcatheter arterial embolization. The disease spectrum and review of the literature are also presented.

  14. Arteriovenous malformation of the mandible

    International Nuclear Information System (INIS)

    Kim, Dong Youn; Lee, Kang Sook; Choi, Karp Shik

    1995-01-01

    The arteriovenous malformation, an uncommon lesion, is a direct communication between an artery and a vein that bypasses the intervening capillary bed. The authors experienced two cases of arteriovenous malformation in 17-year-old and 18-year-old female patients who had suffered from mandibular pain and gingival bleeding. As a result of careful analysis of clinical and angiographic radiological examinations, we diagnosed them as arteriovenous malformations. The following result were obtained; 1. Main clinical symptoms were dull pain and gingival bleeding on the mandibular body area and redness, pain on palpitation in the lesional sites were also observed. 2. Radiographically, well-defined radiolucent lesions with multiple osteolytic defects were observed. In radionuclide scan, increased uptakes of radioisotope were observed in the lesional sites. 3. Increased venous shunt supplied by the facial, lingual and inferior alveolar arteries was observed in angiography. After embolotherapy was performed, no recurrence was reported during 3 to 6 months follow up.

  15. Approach to Malign Melanoma in Anorectal Area

    Directory of Open Access Journals (Sweden)

    Huseyin Pulat

    2014-12-01

    Full Text Available Aim: Anorectal malign melanoma comprise 0.2-1 % of all malign melanoma. They are extremely aggressive. Most patients are lost beacuse of incurable systemic illness. In our study, we aim to evaluate the results of surgical and oncological follow-up of our patients that we operated because of anorectal malign melanoma. Material and Method: Our 4 patients operated because of anorectal malign melanoma between October 2008 and April 2013 were analysed. The patients were analysed in terms of demographic datas, complaint and its time, physical examination and imaging findings, treatment procedure, local recurrence or presence of metastasis and follow-up results.Results: Our study group comprised 4 people (2 men and 2 women with the mean age of 64,2 years. The main complaint was rectal bleeding. The avarage complaint duration was 7.5 months. In all patients, anorectal mass was detected after physical examination and imaging studies. Biopsies of the mass were reported to be consistent with malign melanoma. With the further studies, one patient was detected to have metastasis in liver. Abdominoperineal resection was applied to one patient after wide local excision and to three patients during the first aplication. The avarage follow-up time was 19,25 months. The avarage diameter of tumor was 3,9 cm. One patient was applied lymph node dissection because of recurrence in iliac region. The avarage stay time at hospital of the patients who had no postoperative problems was 9,7 days. During follow-up time, three of the patients died because of common metastasis. A patient followed regularly is still continuing his life without illness in his postoperative 22nd month. Discussion: Anorectal malign melanoma is a rare, with a bad prognosis and a late diagnosed entity as it has a similarity with benign illnesses which are mostly seen in anorectal area in terms of clinical symptoma. To correct the prognosis of the illness, the suitable surgery and adjuvant treatment

  16. What every gastroenterologist needs to know about common anorectal disorders

    Institute of Scientific and Technical Information of China (English)

    Moonkyung Cho Schubert; Subbaramiah Sridhar; Robert R Schade; Steven D Wexner

    2009-01-01

    Anorectal complaints are very common and are caused by a variety of mostly benign anorectal disorders. Many anorectal conditions may be successfully treated by primary care physicians in the outpatient setting,but patients tend not to seek medical attention due to embarrassment or fear of cancer. As a result,patients frequently present with advanced disease after experiencing significant decreases in quality of life. A number of patients with anorectal complaints are referred to gastroenterologists. However,gastroenterologists' knowledge and experience in approaching these conditions may not be sufficient.This article can serve as a guide to gastroenterologists to recognize, evaluate, and manage medically or nonsurgically common benign anorectal disorders, and to identify when surgical referrals are most prudent.A review of the current literature is performed to evaluate comprehensive clinical pearls and management guidelines for each topic. Topics reviewed include hemorrhoids, anal fissures, anorectal fistulas and abscesses, and pruritus ani.

  17. Is anorectal endosonography valuable in dyschesia?

    Science.gov (United States)

    Van Outryve, S M; Van Outryve, M J; De Winter, B Y; Pelckmans, P A

    2002-01-01

    Aims: Dyschesia can be provoked by inappropriate defecation movements. The aim of this prospective study was to demonstrate dysfunction of the anal sphincter and/or the musculus (m.) puborectalis in patients with dyschesia using anorectal endosonography. Methods: Twenty consecutive patients with a medical history of dyschesia and a control group of 20 healthy subjects underwent linear anorectal endosonography (Toshiba models IUV 5060 and PVL-625 RT). In both groups, the dimensions of the anal sphincter and the m. puborectalis were measured at rest, and during voluntary squeezing and straining. Statistical analysis was performed within and between the two groups. Results: The anal sphincter became paradoxically shorter and/or thicker during straining (versus the resting state) in 85% of patients but in only 35% of control subjects. Changes in sphincter length were statistically significantly different (panismus”. PMID:12377809

  18. Gastrointestinal malformations

    DEFF Research Database (Denmark)

    Garne, Ester; Loane, Maria; Dolk, Helen

    2007-01-01

    and without chromosomal anomalies, born 1997-2002, were included. The 14 registries identified 1047 liveborn infants with one or more GIMs (oesophageal atresia, duodenal atresia, omphalocele, gastroschisis and diaphragmatic hernia). Median GA at birth was lower in prenatally diagnosed cases for all five...

  19. Anorectal Physiology/Pathophysiology in the Elderly

    OpenAIRE

    Yu, Siegfried W.B.; Rao, SSC

    2014-01-01

    The U.S. elderly population (≥85 years old) is estimated to increase from 5 to 20 million people between the years 2000 to 2050. Among the medical disorders facing the elderly, anorectal problems are not only highly prevalent, but cause significant morbidity and mortality, and have deleterious effects on health care burden and quality of life. These include disorders such as fecal incontinence, fecal impaction with overflow fecal incontinence, chronic constipation, dyssynergic defecation, hem...

  20. Correlation of anorectal electromanometry and anorectal three-dimensional ultrasound findings in patients with fecal incontinence

    Directory of Open Access Journals (Sweden)

    Tracy Mary Betinardi

    2015-10-01

    Full Text Available Objective: To show the correlation of anorectal electromanometry and three-dimensional anorectal ultrasonography in patients with fecal incontinence. Method: Prospective study involving 34 women (mean age: 55 years with a diagnosis of fecal incontinence. The samples were submitted to three-dimensional anorectal ultrasonography/Echodefecography and anorectal electromanometry. Results: Based on anorectal electromanometry data, 70.5% of 34 patients had hypotonia at rest, 64.7% had hypotonic contraction, 52.9% had both hypotonia at rest and hypotonic contraction, and 44.1% had anismus. By three-dimensional anorectal ultrasonography, 32.3% had internal anal sphincter injury, 79.4% had external anal sphincter injures, and 26.4% had both internal and external anal sphincter injuries. In 38.2%, anismus was suggested and 50% showed rectocele. Overall, only 5.8% had normal results for anorectal electromanometry combined with three-dimensional anorectal ultrasonography. Kappa index was 0.297 and the presence of anismus through anorectal electromanometry and three-dimensional anorectal ultrasonography was compared by Student's t test application, with p < 0.0001. Conclusion: We conclude that there was a reasonable agreement in the comparison of sphincter hypotonia by anorectal manometry and sphincter injury by anorectal three-dimensional ultrasonography in a group of patients with fecal incontinence. The incidence of anismus in patients with fecal incontinence is considerable, and the therapeutic approach in these patients should be modified. Resumo: Objetivo: Demonstrar a correlação entre eletromanometria anorretal (EMAR e ultrassonografia tridimensional anorretal (3D-US em pacientes com incontinência fecal. Método: Estudo prospectivo envolvendo 34 mulheres (media de idade: 55 anos com diagnóstico de incontinência fecal. As amostras foram submetidas à 3D-US/Ecodefecografia e EMAR. Resultados: Com base nos dados de EMAR, 70,5% das 34 pacientes

  1. Shunt malfunction causing acute neurological deterioration in 2 patients with previously asymptomatic Chiari malformation Type I. Report of two cases.

    Science.gov (United States)

    Elliott, Robert; Kalhorn, Stephen; Pacione, Donato; Weiner, Howard; Wisoff, Jeffrey; Harter, David

    2009-08-01

    Patients with symptomatic Chiari malformation Type I (CM-I) typically exhibit a chronic, slowly progressive disease course with evolution of symptoms. However, some authors have reported acute neurological deterioration in the setting of CM-I and acquired Chiari malformations. Although brainstem dysfunction has been documented in patients with CM-II and hydrocephalus or shunt malfunction, to the authors' knowledge only 1 report describing ventriculoperitoneal (VP) shunt malfunction causing neurological deterioration in a patient with CM-I exists. The authors report on their experience with the treatment of previously asymptomatic CM-I in 2 children who experienced quite different manifestations of acute neurological deterioration secondary to VP shunt malfunction. Presumably, VP shunt malfunction created a positive rostral pressure gradient across a stenotic foramen magnum, resulting in tetraparesis from foramen magnum syndrome in 1 patient and acute ataxia and cranial nerve deficits from syringobulbia in the other. Although urgent shunt revisions yielded partial recovery of neurological function in both patients, marked improvement occurred only after posterior fossa decompression.

  2. Congenital malformations, chromosomal abnormalities and perinatal results in IVF/ICSI newborns resulting from very poor quality embryos: a case-control study.

    Science.gov (United States)

    Mendoza, R; Perez, S; de Los Santos, M J; Larreategui, Z; Ayerdi, F; Expósito, A; Burgos, J; Martínez Indart, L; Pijoan, J I; Matorras, R

    2015-01-01

    To explore whether the transfer of very poor quality (VPQ) embryos is associated with an increase in congenital malformations or perinatal problems. In this retrospective case-control study, 74 children conceived by in vitro fertilization (IVF) and/or intracytoplasmic sperm injection (ICSI) resulting exclusively from the transfer of VPQ embryos were compared with 1,507 children born after the transfer of top morphological quality (TQ) embryos over the same period of time in the same centers. The prevalence of birth defects in children resulting from VPQ embryos was 1.35% (1/74), similar to the 1.72% (26/1,507) when only TQ embryos were transferred; the rate of chromosomal abnormalities detected was also similar (0.0 vs. 0.4%), as was perinatal mortality. After correcting for multiplicity (higher in the TQ group), the aforementioned parameters remained similar in the two groups. Congenital malformations and perinatal complications do not seem to be more common in children born after transfer of VPQ embryos in IVF/ICSI cycles. Given our preliminary data, which need to be confirmed in much larger studies, when only VPQ embryos are available for transfer in IVF/ICSI cycles, we do not believe that they should be discarded with the intention of avoiding birth defects or perinatal complications. © 2015 S. Karger AG, Basel.

  3. Congenital pouch colon syndrome: A report of 17 cases

    International Nuclear Information System (INIS)

    Bhat, Nisar Ahmad

    2007-01-01

    Congenital pouch syndrome (CPC) is rare condition seen in an association with anorectal malformation that occurs almost exclusively in northern India. We viewed cases seen in our institution to study aspects of clinical presentation, diagnosis, embryogeneis, and management and raise awareness of this relatively frequent entity. From March 2002 to September 2004, 17 neonates/infants (11 males and 6 females) treated for CPC associated with anorectal malformations included 13 with type IV and 4 with type I CPC. Diagnosis was made by a single large air-fluid level on the infantogram occupying more than 50% of the entire abdominal dimension. In all patients, the pouch had fistulous communication with the genitourinary system, and there were other associated anomalies as well. Of 13 patients with pouch colon type IV, 11 neonates underwent laparotomy, ligation of the fistula, excision of the colonic pouch and end colostomy as a stage I procedure. Subsequently, these patients underwent definitive surgery, i.e. abdominal posterior sagittal anorectoplasty (AP-PSARP), with or without covering colostomy. Two of the 4 patients with type I CPC underwent laparotomy, ligation of the fistula and colorrhaphy as a first-stage operation before AP-PSARP. In our series, 4 patients were diagnosed intraoperatively and were treated in accordance with their operative findings. Post-operatively, there were no major complications except wound infection in some patients. There was one death that was not related to surgery. There are variants of the anomaly, but the possibility of CPC needs to be kept in mind as a possible association with anorectal malformations. (author)

  4. Anorectal and inguinal lymphogranuloma venereum among men who have sex with men in Amsterdam, The Netherlands: trends over time, symptomatology and concurrent infections.

    Science.gov (United States)

    de Vrieze, Nynke Hesselina Neeltje; van Rooijen, Martijn; Schim van der Loeff, Maarten Franciscus; de Vries, Henry John C

    2013-11-01

    To examine lymphogranuloma venereum (LGV) trends over time among men who have sex with men (MSM) visiting the Amsterdam sexually transmitted infection (STI) clinic; to investigate anal LGV symptomatology; and to examine the positivity and characteristics of anorectal and inguinal LGV. We included MSM consultations from whom a swab (from anorectum, bubo or an genital ulcer) was taken for Chlamydia trachomatis (Ct) screening. Anorectal swabs were taken from all MSM who reported receptive anorectal intercourse in the preceding 6 months. Ct positive samples were further tested with a pmpH PCR to identify L-genovars. Patient symptoms, clinical and anoscopic inflammatory signs, and STI co-infections were noted; Gram-stained anorectal mucosal smears were examined. Between January 2005 and June 2012, 48 570 consultations among MSM were conducted. In 3628/35 650 visits, anorectal Ct infections were diagnosed, including 411 anal LGV (1.2%). Moreover, 65/1649 genital ulcer swabs were Ct positive; 10 were inguinal LGV (0.6%) Since January 2011 a significant increase in the positivity of LGV occurred (p<0.0001). 89 (27.2%) anorectal LGV cases were asymptomatic. HIV prevalence among anorectal LGV cases was significantly higher (p=0.008) than among inguinal LGV cases. STI co-morbidity in anorectal LGV cases remained invariably high during the study period. Since January 2011, LGV positivity in MSM consultations in Amsterdam has risen significantly. The great majority comprise anal LGV; inguinal LGV is rare. Anal LGV is asymptomatic in a quarter of cases. In all MSM with anal Ct infections LGV should be excluded, irrespective of symptoms or inflammatory signs.

  5. A new classification for cochleovestibular malformations.

    Science.gov (United States)

    Sennaroglu, Levent; Saatci, Isil

    2002-12-01

    The report proposes a new classification system for inner ear malformations, based on radiological features of inner ear malformations reviewed in 23 patients. The investigation took the form of a retrospective review of computerized tomography findings relating to the temporal bone in 23 patients (13 male and 10 female patients) with inner ear malformations. The subjects were patients with profound bilateral sensorineural hearing loss who had all had high-resolution computed tomography (CT) with contiguous 1-mm-thick images obtained through the petrous bone in axial sections. The CT results were reviewed for malformations of bony otic capsule under the following subgroups: cochlear, vestibular, semicircular canal, internal auditory canal (IAC), and vestibular and cochlear aqueduct malformations. Cochlear malformations were classified as Michel deformity, common cavity deformity, cochlear aplasia, hypoplastic cochlea, incomplete partition types I (IP-I) and II (IP-II) (Mondini deformity). Incomplete partition type I (cystic cochleovestibular malformation) is defined as a malformation in which the cochlea lacks the entire modiolus and cribriform area, resulting in a cystic appearance, and there is an accompanying large cystic vestibule. In IP-II (the Mondini deformity), there is a cochlea consisting of 1.5 turns (in which the middle and apical turns coalesce to form a cystic apex) accompanied by a dilated vestibule and enlarged vestibular aqueduct. Four patients demonstrated anomalies involving only one inner ear component. All the remaining patients had diseases or conditions affecting more than one inner ear component. Eight ears had IP-I, and 10 patients had IP-II. Ears with IP-I had large cystic vestibules, whereas the amount of dilation was minimal in patients with IP-II. The majority of the semicircular canals (67%) were normal. Semicircular canal aplasia accompanied cases of Michel deformity, cochlear hypoplasia, and common cavity. In 14 ears, the IAC had a

  6. Extrasinusal dural arteriovenous malformations

    International Nuclear Information System (INIS)

    Piske, R.L.; Lasjaunias, P.

    1988-01-01

    Of 60 cases of dural arteriovenous malformations (DAVM) explored and treated in the Vascular Neuroradiology Unit of the Hospital of Bicetre between 1980 and 1986, 3 presented in an extrasinusal location: intraorbital, middle cerebral fossa and the region of the superior orbital fissure. We have not found any prior description of DAVMs in these regions in the literature. The classic concept that DAVMs rise in direct relationship with the dural sinuses is limited. We believe that these lesions may also developed in relationship with the venous drainage system of the sinuses and the venous drainage of the peripheral nervous system. We note that the superior ophthalmic vein which drains DAVMs of the orbit and the olfactory vein which drains DAVMs of the anterior cranial fossa and other veins that accompany the cranial nerves through the skull base have the characteristics of emissary veins. It may be that DAVMs can develop wherever veins follow a transosseous trajectory. (orig.)

  7. Upper airway dimensions in patients with craniocervical junction malformations with and without sleep apnea. A pilot case-control study

    Directory of Open Access Journals (Sweden)

    Ramon Barbalho Guerreiro

    2015-04-01

    Full Text Available Objective Patients with craniocervical junction malformations (CCJM tend to suffer more frequently from sleep respiratory disturbances, which are more frequent and severe in patients with basilar invagination. Here we evaluate if patients with CCJM and sleep respiratory disorders (SRD present smaller airway dimensions than patients without SRD. Method Patients with CCCM with and without sleep respiratory disturbances were evaluated clinically by Bindal's score, modified Mallampati classification, full-night polysomnography and upper airway cone beam tomography. Results Eleven patients had sleep respiratory disorders (SRD, and nine patients performed control group without SRD. CCJM patients with SRD were predominantly female, older, had higher BMI, were more likely to have Mallampati grades 3 and 4 and had statistically significant smaller anteroposterior diameter of the upper airway than patients without SRD. Conclusion Patients with CCJM and sleep respiratory disturbances have higher BMI, higher Mallampati score and smaller anterior posterior diameter of the upper airway.

  8. Laparoscopically assisted anorectal pull-through for rectovestibular ...

    African Journals Online (AJOL)

    Laparoscopically assisted anorectal pull-through for rectovestibular fistula. Taha Alkhatrawi, Radi Elsherbini, Waheed Alturkistani. Abstract. Purpose Laparoscopically assisted anorectal pull-through (LAARP) has been described as an alternative to posterior sagittal anorectoplasty for the surgical treatment of rectourethral ...

  9. Congenital heart defects and extracardiac malformations.

    Science.gov (United States)

    Rosa, Rosana Cardoso M; Rosa, Rafael Fabiano M; Zen, Paulo Ricardo G; Paskulin, Giorgio Adriano

    2013-06-01

    To review the association between congenital heart defects and extracardiac malformations. Scientific articles were searched in the Medline, Lilacs, and SciELO databases, using the descriptors "congenital heart disease," "congenital heart defects," "congenital cardiac malformations," "extracardiac defects," and "extracardiac malformations." All case series that specifically explored the association between congenital heart defects and extracardiac malformations were included. Congenital heart diseases are responsible for about 40% of birth defects, being one of the most common and severe malformations. Extracardiac malformations are observed in 7 to 50% of the patients with congenital heart disease, bringing a greater risk of comorbidity and mortality and increasing the risks related to heart surgery. Different studies have attempted to assess the presence of extracardiac abnormalities in patients with congenital heart disease. Among the changes described, those of the urinary tract are more often reported. However, no study has evaluated all patients in the same way. Extracardiac abnormalities are frequent among patients with congenital heart disease, and patients with these alterations may present an increased risk of morbimortality. Therefore, some authors have been discussing the importance and cost-effectiveness of screening these children for other malformations by complementary exams.

  10. Chiari malformations: diagnosis, treatments and failures.

    Science.gov (United States)

    Abd-El-Barr, M M; Strong, C I; Groff, M W

    2014-12-01

    Chiari malformations refer to abnormalities of the hindbrain originally described by the Austrian pathologist Hans Chiari in the early 1890s. These malformations range from herniation of the cerebellar tonsils through the foramen magnum to complete agenesis of the cerebellum. In this review, we review the different classification schemes of Chiari malformations. We discuss the different signs and symptoms that the two most common malformations present with and diagnostic criteria. We next discuss current treatment paradigms, including the new measure of possible in utero surgery to help decrease the incidence of Chiari type II malformations. There is also a small discussion of treatment failures and salvage procedures in these difficult cases. Chiari malformations are a difficult clinical entity to treat. As more is learned about the genetic and environmental factors relating to their characteristics, it will be interesting if we are able to predict which treatments are better suited for different patients. Similarly, with the evolution of in utero techniques especially for Chiari II malformations, it will be interesting to see if the incidence and practice of treating these difficult patients will change.

  11. Study of placenta of children born with congenital malformations.

    Science.gov (United States)

    Stoll, Claude; Alembik, Yves; Dott, Béatrice; Roth, Marie-Paule

    2003-01-01

    The malformations in this study were observed in a series of 279,642 consecutive births of known outcome registered in our Registry of congenital anomalies. For each case, more than 50 factors included in the registration forms were studied. One of the factors studied was the placenta. For each malformed child, a control was chosen. Cases with maternal known factors impairing placenta function, i.e. vasculopathy and diabetes, were excluded. In each category of malformations studied, the malformed children were divided into isolated and non-isolated (multiple malformed) cases. The weight of placenta of isolated cases was not lower than the weight of placenta of the controls. In contrast, the weight of placenta of the cases with non-isolated malformations was lower than the weight of placenta of the controls and of the isolated cases, for all categories of malformations but gastroschisis and omphalocele. The mean weights at birth of the cases with multiple malformations were also lower than those of the controls. The human placenta discounts a principal functional part, the maternal blood in the intervillous space. Congenital malformations may interact with this function.

  12. Congenital pseudoarthrosis associated with venous malformation

    International Nuclear Information System (INIS)

    Al-Hadidy, A.; Haroun, A.; Al-Ryalat, N.; Hamamy, H.; Al-Hadidi, S.

    2007-01-01

    Congenital pseudoarthrosis is a pathologic entity that may be isolated, or may be associated with neurofibromatosis. We report the case of a 3-year-old female with congenital pseudoarthrosis involving the right tibia and fibula. Magnetic resonance imaging (MRI) and complementary magnetic resonance angiogram (MRA) revealed a lobulated mass with vivid enhancement, which led to the diagnosis of venous malformation. This is the first report of congenital pseudoarthrosis caused by the presence of a vascular malformation. (orig.)

  13. Common congenital malformations of the brain

    International Nuclear Information System (INIS)

    Naidich, T.P.; Zimmerman, R.A.

    1987-01-01

    In nearly all cases, congenital malformations are characterized most easily by their anatomic features and are best images with T1-weighted short TR/short TE pulse sequences. T2-weighted, long TR/long TE images are used primarily for the phakomatoses that are commonly associated with brain tumors. This chapter reviews the features of the most common congenital malformations and illustrates their typical magnetic resonance imaging (MRI) appearance

  14. Congenital pseudoarthrosis associated with venous malformation

    Energy Technology Data Exchange (ETDEWEB)

    Al-Hadidy, A.; Haroun, A.; Al-Ryalat, N. [Jordan University Hospital, Radiology Department, P.O. Box 340621, Amman (Jordan); Hamamy, H. [Endocrinology and Genetics, National Center for Diabetes, Amman (Jordan); Al-Hadidi, S. [Jordan University Hospital, Departments of Orthopedics, Amman (Jordan)

    2007-06-15

    Congenital pseudoarthrosis is a pathologic entity that may be isolated, or may be associated with neurofibromatosis. We report the case of a 3-year-old female with congenital pseudoarthrosis involving the right tibia and fibula. Magnetic resonance imaging (MRI) and complementary magnetic resonance angiogram (MRA) revealed a lobulated mass with vivid enhancement, which led to the diagnosis of venous malformation. This is the first report of congenital pseudoarthrosis caused by the presence of a vascular malformation. (orig.)

  15. Aortic arch malformations

    Energy Technology Data Exchange (ETDEWEB)

    Kellenberger, Christian J. [University Children' s Hospital, Department of Diagnostic Imaging, Zuerich (Switzerland)

    2010-06-15

    Although anomalies of the aortic arch and its branches are relatively uncommon malformations, they are often associated with congenital heart disease. Isolated lesions may be clinically significant when the airways are compromised by a vascular ring. In this article, the development and imaging appearance of the aortic arch system and its various malformations are reviewed. (orig.)

  16. Dandy-Walker Malformation

    African Journals Online (AJOL)

    rme

    Dandy-Walker malformation is a rare congenital malformation and involves the cerebellum and fourth ventricle. The condition is characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. A large number of concomitant problems may be ...

  17. Aortic arch malformations

    International Nuclear Information System (INIS)

    Kellenberger, Christian J.

    2010-01-01

    Although anomalies of the aortic arch and its branches are relatively uncommon malformations, they are often associated with congenital heart disease. Isolated lesions may be clinically significant when the airways are compromised by a vascular ring. In this article, the development and imaging appearance of the aortic arch system and its various malformations are reviewed. (orig.)

  18. Anomalous facial nerve canal with cochlear malformations.

    Science.gov (United States)

    Romo, L V; Curtin, H D

    2001-05-01

    Anteromedial "migration" of the first segment of the facial nerve canal has been previously identified in a patient with a non-Mondini-type cochlear malformation. In this study, several patients with the same facial nerve canal anomaly were reviewed to assess for the association and type of cochlear malformation. CT scans of the temporal bone of 15 patients with anteromedial migration of the first segment of the facial nerve canal were collected from routine departmental examinations. In seven patients, the anomalous course was bilateral, for a total of 22 cases. The migration was graded relative to normal as either mild/moderate or pronounced. The cochlea in each of these cases was examined for the presence and size of the basilar, second, and apical turns. The turns were either absent, small, normal, or enlarged. The CT scans of five patients with eight Mondini malformations were examined for comparison. The degree of the facial nerve migration was pronounced in nine cases and mild/moderate in 13. All 22 of these cases had associated cochlear abnormalities of the non-Mondini variety. These included common cavity anomalies with lack of definition between the cochlea and vestibule (five cases), cochleae with enlarged basilar turns and absent second or third turns (five cases), and cochleae with small or normal basilar turns with small or absent second or third turns (12 cases). None of the patients with Mondini-type cochlear malformations had anteromedial migration of the facial nerve canal. Anteromedial migration of the facial nerve canal occurs in association with some cochlear malformations. It did not occur in association with the Mondini malformations. A cochlea with a Mondini malformation, being similar in size to a normal cochlea, may physically prohibit such a deviation in course.

  19. Bone dysplasia with optic atrophy, vascular malformation and seizures in a 14-year-old girl - a case report

    International Nuclear Information System (INIS)

    Kuleta-Bosak, E.; Kluczewska, E.; Gibinska, E.; Jamroz, E.; Augustyn, D.; Gluszkiewicz, E.

    2007-01-01

    The heritable skeletal dysplasias or osteochondrodysplasias are a large heterogeneous group of disorders associated with abnormal shape, growth, or integrity of bones. Osteopetrosis is a collective term for a range of sclerosing bone diseases with various degree of defective remodeling. Increased bone density is the predominant radiologic feature. The skull is often involved with basal sclerosis and the sinuses are obliterated. The most serious consequences of the osteopetroses are seen in the nervous system. Because of perturbed remodeling of the skull bones, many aspects of the brain and cranial nerve function are endangered. Cranial nerves, blood vessels and the spinal cord may be compressed by progressive occlusion of cranial foramina. Carious, misplaced teeth, dysplastic fingernails, tendency to pathologic fractures are the other clinical manifestations. The authors present a 14-year-old girl with dysmorphic features, optic atrophy, CNS vessel malformation, pathologic fractures and seizures. The girl had a wide range of clinical and radiographic symptoms of bone dysplasias together with a giant left internal carotid artery aneurysm and epilepsy. On the basis of clinical and radiological features, a disease belonging to the group of skeletal dysplasias was recognized in our patient. The configuration of the presented symptoms does not allow at the moment strict classification to hitherto determined forms of dysplasia. This leads to the necessity of extending diagnostics, especially by molecular tests, and further long-lasting observations, which perhaps would allow classification of the presented syndrome to one of the known groups, or determination of a new clinical entity. (author)

  20. Angiographic findings of congenital vascular malformation in soft tissue

    International Nuclear Information System (INIS)

    Choi, Dae Seob; Park, Jae Hyung; Han, Joon Koo; Chung, Jin Wook; Moon, Woo Kyung; Han, Man Chung

    1994-01-01

    We evaluated the clinical, plain radiographic, and angiographic findings of congenital vascular malformation of the soft tissue. Retrospective analysis was performed in 36 patients. Pathological diagnosis was done in 25 patients by surgery and the others were clinically and angiographically diagnosed. On the basis of angiographic findings, we classified the lesions to three groups as arteriovenous malformation (AVM), hemangioma, and venous malformation. In pathologically proven 25 cases, we compared the angiographic diagnosis with the pathologic diagnosis. By angiographic classification, AVM was 13 cases, hemangioma 16 cases, and venous malformation 7 cases. The locations of the lesions were upper extremities in 14 cases, lower extremities in 20 cases, both extremities in 1 case, and back in 1 case. Clinical findings were bruit and thrill in 13 cases(12 AVMs,1 hemangioma) and varicosities in 16 cases(11 AVMs, 3 hemangiomas and 2 venous malformations). The varicosities in AVM were pulsating nature, but not in hemangioma and venous malformation. The concordance rate of the angiographic and pathologic diagnosis was 100%(6/6) in AVM, 71%(10/14) in hemangioma and 60% (3/5) in venous malformation. We think that angiography is an essential study for accurate diagnosis and appropriate treatment of congenital vascular malformation

  1. Human malformations induced by environmental noxae

    International Nuclear Information System (INIS)

    Hecker, W.C.; Angerpointner, T.A.

    1980-01-01

    The paper reviews congenital malformations in humans and presents possible causes. 60% of all malformations are a result of environmental and other factors; i.e. not hereditary or caused by a disease of the mother. The teratogenic effects of ionizing radiation, drugs, alcohol, polyvinyl chloride and trichlorophenol are discussed as well as the effect of the mother's working in certain fields, e.g. clinical laboratories or printing offices; in the latter case the teratogenic noxae are still unknown. Efficient research requires centralized storage of all data on children born with malformations and on the mother's health situation during pregnancy, and the legislator is asked to do so while observing the law on data protection. Foundation of a German Institute of Teratology is recommended. In order to intensify research, it is suggested to set up groups or departments for research on malformations in some major paediatric hospitals. (MG) [de

  2. Chiari I malformation associated with turner syndrome

    Directory of Open Access Journals (Sweden)

    Kamble Jayaprakash Harsha

    2017-01-01

    Full Text Available Turner syndrome (TS is a rare genetic disease due to the absence of one X chromosome. Patients with TS have more subtle neurological/neuropsychiatric problems, while headache is an uncommon clinical presentation which needs attention. We report a 12-year-old child presenting with typical cough headache. Her magnetic resonance imaging revealed Chiari I malformation associated with TS. To the best of our knowledge, Chiari I malformation associated with TS is not described in literature. We report the first case of TS associated with Chiari I malformation. Interestingly, Chiari I malformation is also associated with Noonan's syndrome, which is a close morphological mimicker of TS, raising the possibility of sharing similar pathogenesis in both conditions.

  3. [Clinical analysis of 102 patients with congenital inner ear malformation].

    Science.gov (United States)

    Zhu, X; Lian, N; Cai, Z

    1995-01-01

    Hearing loss and CT findings of 200 ears from 102 cases with congenital malformation of inner ear were included in our study. Hearing loss was typically bilateral severe, or total deafness. 75 percent of them were found deaf within one-year-old. In addition, 47 patients' (46%) mothers were noted to have caught a cold in first trimester of pregnancy. Temporal bone abnormalties were described as five types: 1. Michel malformation, 2. Mondini malformation, 3. enlargement of the vestibular aqueducts, 4. developmental deformity of cochlear aqueduct, 5. developmental deformity of internal acoustic meatus. Most cases showed malformations of vestibule or vestibular aqueducts.

  4. 133Xe blood flow monitoring during arteriovenous malformation resection: a case of intraoperative hyperperfusion with subsequent brain swelling

    International Nuclear Information System (INIS)

    Young, W.L.; Solomon, R.A.; Prohovnik, I.; Ornstein, E.; Weinstein, J.; Stein, B.M.

    1988-01-01

    Measurement of regional cerebral blood flow (rCBF) using the i.v. 133Xe technique was carried out during resection of a right temporooccipital arteriovenous malformation (AVM) with ipsilateral middle and posterior cerebral arterial supply. Intraoperatively, a rCBF detector was in place over the right frontotemporal area, about 5 to 6 cm from the border of the AVM. Anesthesia was 0.75% isoflurane in oxygen and nitrous oxide. After dural exposure, the rCBF was 27 ml/100 g/min at a pCO2 of 29 mm Hg and a mean arterial pressure (MAP) of 90 mm Hg. The pCO2 was then elevated to 40 mm Hg, and the rCBF was increased to 55 ml/100 g/min at a MAP of 83 mm Hg. After AVM removal, the rCBF rose to 50 ml/100 g/min at a pCO2 of 27 mm Hg and a MAP of 75 mm Hg. The pCO2 was elevated to 33 mm Hg and the rCBF increased to 86 ml/100 g/min at a MAP of 97 mm Hg. During skin closure, the rCBF was 94 ml/100 g/min at a pCO2 of 26 mm Hg and a MAP of 97 mm Hg. The patient was neurologically normal postoperatively except for a mild, new visual field defect. After 2 to 3 days, the patient gradually developed lethargy, confusion, and nausea with relatively normal blood pressure. An angiogram revealed residual enlargement of the posterior cerebral artery feeding vessel. Computed tomography showed edema extending from the area of AVM resection as far as the frontal region, producing a significant midline shift anteriorly. Intraoperative rCBF monitoring revealed significant hyperperfusion after AVM resection, which was associated with signs and symptoms of the normal perfusion pressure breakthrough syndrome

  5. Congenital spinal malformations

    International Nuclear Information System (INIS)

    Ertl-Wagner, B.B.; Reiser, M.F.

    2001-01-01

    Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.) [de

  6. Radiosurgery of arteriovenous malformations

    International Nuclear Information System (INIS)

    Kawamoto, Shunsuke

    1994-01-01

    Steiner has first published a report of a case of cerebral arteriovenous malformation (AVM) treated with gamma knife radiosurgery in 1972. Since the mid-1980s, radiosurgery has increasingly received much attention. There have already been more than 6,000 radiosurgically treated AVM cases. This article reviews radiosurgery in the context of the following: (1) radiosurgery according to gamma knife, linear accelerator, heavy-charged particle Bragg-peak radiation and neutron; (2) therapeutic outcome in view of angiographically proven complete obliteration (CO) of AVM, including the time required for CO and factors regulating CO (such as the volume of AVM, radiation doses, correlation between the volume of AVM and radiation doses, age, and site of AVM), histopathological findings, and clinical complaints (such as headache and epilepsy) after radiosurgery; (3) bleeding after radiosurgery; (4) complications (including angiography-related complications, those immediately after radiosurgery, delayed complications, factors influencing delayed complications, and endocrine or growth retardation); (5) other problems (such as radiation doses, follow-up strategy, approaches to giant AVMs, and repeat irradiation); (6) indication of radiosurgery for lesions other than brain stem, and lesions of the mid-brain, pons and bulb. (N.K.) 134 refs

  7. Cerebral palsy and congenital malformations

    DEFF Research Database (Denmark)

    Garne, Ester; Dolk, Helen; Krägeloh-Mann, Inge

    2007-01-01

    AIM: To determine the proportion of children with cerebral palsy (CP) who have cerebral and non-cerebral congenital malformations. METHODS: Data from 11 CP registries contributing to the European Cerebral Palsy Database (SCPE), for children born in the period 1976-1996. The malformations were...... classified as recognized syndromes, chromosomal anomalies, cerebral malformations or non-cerebral malformations. Prevalence of malformations was compared to published data on livebirths from a European database of congenital malformations (EUROCAT). RESULTS: Overall 547 out of 4584 children (11.9%) with CP...... were reported to have a congenital malformation. The majority (8.6% of all children) were diagnosed with a cerebral malformation. The most frequent types of cerebral malformations were microcephaly and hydrocephaly. Non-cerebral malformations were present in 97 CP children and in further 14 CP children...

  8. Restorative resection of radiation rectovaginal fistula can better relieve anorectal symptoms than colostomy only.

    Science.gov (United States)

    Zhong, Qinghua; Yuan, Zixu; Ma, Tenghui; Wang, Huaiming; Qin, Qiyuan; Chu, Lili; Wang, Jianping; Wang, Lei

    2017-02-02

    Radiation-induced rectovaginal fistula (RVF) is a severe and difficult complication after pelvic malignancy radiation. This study was to retrospectively compare the outcomes of restorative resection and colostomy only in remission of anorectal symptoms. We enrolled a cohort of 26 consecutive cases who developed RVF after pelvic radiation. Two main procedures for these patients in our institution were used: one was restorative resection and pull-through coloanal anastomosis with a prophylactic colostomy, and another was a simple colostomy without resection. Thus, we divided these patients into these two groups. Anorectal symptoms including rectal pain, bleeding, tenesmus, and perineal mucous discharge were recorded and scored prior to surgery and at postoperative multiple time points. The baseline was similar among the two groups. All patients acquired good efficacy with improved symptoms at postoperative 6, 12, and 24 months, when compared to baseline. In addition, the resection group showed a better remission of tenesmus (6 months 33.3 vs 0%; 12 months 66.7 vs 16.7%) and perineal mucous discharge (6 months 88.9 vs 6.7%; 12 months 77.8 vs 15.4%; 24 months 85.7 vs 25.0%). Furthermore, three (30%) patients in the resection group successfully reversed stomas while no stoma was closed in the simple colostomy group. Both restorative resection procedure and colostomy only can improve anorectal symptoms of radiation-induced RVF, but restorative resection can completely relieve anorectal symptoms in selected cases.

  9. Congenital Vascular Malformation

    Science.gov (United States)

    ... also be effective for small, localized birthmarks (port wine stains). Patients with a rare venous malformation (Kleppel–Trenaunay Syndrome) of the limbs, frequently benefit from elastic garments and bandages used for com- ...

  10. Supratentorial CNS malformations

    International Nuclear Information System (INIS)

    Zlatareva, D.

    2012-01-01

    Full text: Clinical suspicion of a developmental anomaly of the central nervous system (CNS) is a frequent indication for performing and magnetic resonance imaging (MRI) examination of the brain. Classification systems for malformation of the CNS are constantly revised according to newer scientific research. Developmental abnormalities can be classified in two main types. The first category consists of disorders of organogenesis in which genetic defects or any ischemic, metabolic, toxic or infectious insult to the developing brain can cause malformation. These malformations result from abnormal neuronal and glial proliferation and from anomalies of neuronal migration and or cortical organization. They are divided into supra- and infratentorial and may involve grey or white matter or both. The second category of congenital brain abnormalities is disorders of histogenesis which result from abnormal cell differentiation with a relatively normal brain appearance. Supratentorial CNS malformations could be divided into anomalies in telencephalic commissure, holoprosencephalies and malformations in cortical development. There are three main telencephalic commissures: the anterior commissure, the hippocampal commissure and the corpus callosum. Their morphology (hypoplasia, hyperplasia, agenesis, dysgenesis, even atrophy) reflects the development of the brain. Their agenesis, complete or partial, is one of the most commonly observed features in the malformations of the brain and is a part of many syndromes. Malformations of cortical development (MCD) are heterogeneous group of disease which result from disruption of 3 main stages of cortical development. The common clinical presentation is refractory epilepsy and or developmental delay. The most common MCD are heterotopias, focal cortical dysplasia, polymicrogyria, schizencephaly, pachygyria and lizencephaly. The exact knowledge of the brain anatomy and embryology is mandatory to provide a better apprehension of the

  11. [Diagnosis and management of Mondini malformation].

    Science.gov (United States)

    Yang, W; Fang, Y; Yang, S

    1997-02-01

    Owing to the development of imaging technology and audiology, some of the sensorineural hearing loss cases that were previcusly considered to be of unknown cause have been found to be inner ear malformation. Five cases of Mondini malformation are reviewed in this paper. CSF otorhinorrhea occurred in four cases, Klippel-Feil syndrome in three, and concurrent otosclerosis in one patient. In discussion, the authors point out that: 1) CT scanning is an supplement to audiologic tests for such patients; 2) perilymph fistula in Mondini malformation is often found at the oval window and its vicinity, the foot plate and the round window; 3) the fistula can be treated by plugging with fascial tissue via tympanoplastic approach with endaural incision. The mucosa around the fistula should be stripped away and the plugging tissue should be of dumb-bell shape.

  12. Transcatheter arterial embolization for congenital renal arteriovenous malformation

    International Nuclear Information System (INIS)

    Zhou Jun; Hu Tingyang; Yuan Jianhua; Yu Wenqiang

    2008-01-01

    Objective: To evaluate the effectiveness of transcatheter arterial embolization for congenital renal arteriovenous malformation. Methods: Seven cases of congenital renal arteriovenous malformation causing gross hematuria were retrospectively studied. All of 7 cases were demonstrated by means of angiography and then the catheter was placed superselectively into the involved arterial end of the malformation undertaking embolization with gelfoam, dehydrated ethanol, coils, etc. Results: All the malformations of the 7 cases were successfully embolized with stoppage of gross hematuria within 24 hours. No serious complications occurred except lumbago, fever, gastrointestinal reaction for one week. There was no recurrence of haematuria and the renal function was also normal in all cases during the follow-up for 36 to 98 months. Conclusions: Transcatheter renal arterial angiography and embolization are the important and effective management for the diagnosis and treatment of congenital renal arteriovenous malformation. (authors)

  13. Anaesthetic management of a child with massive extracranial arteriovenous malformation

    Directory of Open Access Journals (Sweden)

    Faisal Shamim

    2012-01-01

    Full Text Available Vascular tumors affect the head and neck commonly but arteriovenous malformations are rare. Vascular malformations are often present at birth and grow with the patient, usually only becoming significant later in childhood. Embolization has been the mainstay of treatment in massive and complex arteriovenous malformations. We present a case of massive extracranial arteriovenous malformation in a 7-year-old boy causing significant workload on right heart and respiratory distress. The management of angioembolization under general anaesthesia and anaesthetic concerns are presented.

  14. New concept of functional anorectal disorders. In relation to newly published ROME III

    International Nuclear Information System (INIS)

    Takano, Masahiro

    2007-01-01

    In newly published Rome III, Functional anorectal disorders are divided into 7 disorders. F1 Functional fecal incontinence is divided into staining, soiling, seepage and leakage in the degree and urge and passive incontinences in the dynamics, of which the former is dysfunction of the rectum and the latter of the anus. For the treatment, the most effective is biofeedback therapy (BF). F2 Functional anorectal pain is divided into F2a Chronic proctalgia, F2a1 Levator ani syndrome, F2a2 Unspecified functional anorectal pain and F2b Proctalgia fugax. F2a1 Levator ani syndrome is defined as a pain caused by traction of the levator ani, but in my experience, only 4 (3.5%) among 116 cases accorded to the criteria making us dubious of the definition. As for F2b Proctalgia fugax, the cause has not yet been found. In these two F2a, various treatments are tried without significant effectiveness due perhaps to the unknown pathogenesis which I assume to be the neuralgia of pudendal nerve. F3 Functional defecation disorders consist of F3a Dyssynergic defecation and F3b Inadequate defecatory propulsion of which, the former is caused by paradoxical contraction or inadequate relaxation of the pelvic floor muscles and the latter caused by inadequate propulsive force in defecation. Their treatments are BF and defecatory enforcement. (author)

  15. [Correction of congenital malformations by custom-made silicone implants: Contribution of computer-aided design. Experience of 611 cases].

    Science.gov (United States)

    Chavoin, J P; Chaput, B; Garrido, I; Moreno, B; Dahan, M; Grolleau, J L

    2016-10-01

    Modern techniques of computer-aided design and tridimensional prototyping for manufacturing silicone elastomer custom implants are growing. They have widely modified the surgical indications in our unit. By presenting their experience of 611 cases managed between 1993 and 2016, the authors describe the method of conception from CT-scans, the virtual image of the body and the manufacture of the custom-made implant perfectly adapted to the anatomy of each one. The operative techniques are described for the three main indications: the funnel chest or pectus excavatum (474 cases) according to a modified CHIN classification is corrected simply and very satisfactorily. This approach may render thoracic surgery techniques obsolete. Indeed, these operations remain risky and of doubtful functional utility; Poland syndrome (116 cases), where the use of a custom-made implant for compensation of muscle volume is frequently used, but can be improved by a transfer of adipose tissue or a classic breast implant; the leg atrophies (21 cases) receive custom elastomer implants introduced in a sub-fascial plane. The results are excellent for pectus excavatum but more difficult to optimize for the other two indications, requiring sometimes complementary techniques. Complications are rare and often benign, implants endure for life. Quality of life, psychological comfort and self-esteem have been improved with low morbidity and without having undergone a painful surgical experience. Reconstructive procedures of congenital malformations by custom-made silicone implants open a new field of activity for our surgical specialty with vast opportunities. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  16. Giant cell angiofibroma misdiagnosed as a vascular malformation and treated with absolute alcohol for one year: a case report and review of the literature.

    Science.gov (United States)

    He, Yue; Zhang, Chenping; Liu, Guanglong; Tian, Zhuowei; Wang, Lizhen; Kalfarentzos, Evagelos

    2014-04-24

    To present the clinical, imaging, pathological and immunohistochemical features of giant cell angiofibroma (GCA). In this paper we report an atypical case of a GCA extending from the parotid to the parapharyngeal space. The lesion was being treated as a vascular malformation for one year prior to surgical removal. We summarize the clinical manifestations, imaging, pathological and molecular features of this rare disease.After complete surgical removal of the tumor, immunohistochemical analysis revealed strong positivity for the mesenchymal markers vimentin, CD34, CD31 and CD99 in neoplastic cells. Tumor proliferation antigen marker Ki67 was partly positive (<5% of cells). Tumor cells were negative for muscle-specific actin, epithelial membrane antigen, smooth muscle actin, cytokeratin pan, S100, desmin, glial fibrillary acidic protein, myogenin, MyoD1 and F8. The morphological and immunohistochemical profile was consistent with the diagnosis of GCA. GCA is a rare soft tissue tumor that can easily be misdiagnosed in the clinical preoperative setting. In view of the clinical, pathological and molecular features of the tumor, complete surgical removal is the current optimal treatment option, providing accurate diagnosis and low to minimal recurrence rate.

  17. Congenital Spondylolytic Spondylolisthesis of C2 Vertebra Associated With Atlanto-Axial Dislocation, Chiari Type I Malformation, and Anomalous Vertebral Artery: Case Report With Review Literature.

    Science.gov (United States)

    Sardhara, Jayesh; Pavaman, Sindgikar; Das, Kuntal; Srivastava, Arun; Mehrotra, Anant; Behari, Sanjay

    2016-11-01

    Congenital spondylolytic spondylolisthesis of C2 vertebra resulting from deficient posterior element of the axis is rarely described in the literature. We describe a unique case of agenesis of posterior elements of C2 with craniovertebral junction anomalies consisting of osseous, vascular, and soft tissue anomalies. A 26-year-old man presented with symptoms of upper cervical myelopathy of 12 months' duration. A computed tomography scan of the cervical spine including the craniovertebral junction revealed spondylolisthesis of C2 over C3, atlantoaxial dislocation, occipitalization of the atlas, hypoplasia of the odontoid, and cleft posterior C1 arch. Additionally, the axis vertebra was found devoid of its posterior elements except bilaterally rudimentary pedicles. Magnetic resonance imaging revealed tonsilar herniation, suggesting associated Chiari type I malformation. CT angiogram of the vertebral arteries displayed persistent bilateral first intersegmental arteries crossing the posterior aspect of the C1/2 facet joint. This patient underwent foramen magnum decompression, C3 laminectomy with occipito-C3/C4 posterior fusion using screw and rod to maintain the cervical alignment and stability. We report this rare constellation of congenital craniovertebral junction anomaly and review the relevant literature. Copyright © 2016 Elsevier Inc. All rights reserved.

  18. Ultrasound-guided epidural anesthesia for a parturient with severe malformations of the skeletal system undergoing cesarean delivery: a case report

    Directory of Open Access Journals (Sweden)

    Luo LL

    2015-05-01

    Full Text Available LinLi Luo,* Juan Ni,* Lan Wu, Dong Luo Department of Anesthesiology, West China Second Hospital, Sichuan University, Chengdu, Sichuan, People's Republic of China  *These authors contributed equally to this work and should be considered co-first authors Abstract: Anesthetic management of patients with preexisting diseases is challenging and individualized approaches need to be determined based on patients' complications. We report here a case of ultrasound-guided epidural anesthesia in combination with low-dose ketamine during cesarean delivery on a parturient with severe malformations of the skeletal system and airway problems. The ultrasound-guided epidural anesthesia was performed in the L1–L2 space, followed by an intravenous administration of ketamine (0.5 mg/kg for sedation and analgesia. Satisfactory anesthesia was provided to the patient and spontaneous ventilation was maintained during the surgery. The mother and the baby were discharged 5 days after surgery, no complications were reported for either of them. Our work demonstrated that an ultrasound-guided epidural anesthesia combined with low-dose ketamine can be used to successfully maintain spontaneous ventilation and provide effective analgesia during surgery and reduce the risk of postoperative anesthesia-related pulmonary infection. Keywords: anesthesia, regional, cesarean delivery, ketamine, ultrasound-guided

  19. Hemiplegia cruzada associada a impressão basilar, malformação de Arnold-Chiari e siringomielia: relato de caso Cruciate hemiplegia associated with basilar impression, Arnold-Chiari malformation and syringomyelia: case report

    Directory of Open Access Journals (Sweden)

    José Alberto Gonçalves da Silva

    1996-12-01

    Full Text Available Os autores apresentam um caso de hemiplegia cruzada associada a impressão basilar, malformação de Arnold-Chiari e siringomielia. Discutem as propostas anatômicas e a fiopatogenia desta síndrome de ocorrência bastante rara.The authors report a case of cruciate hemiplegia associated with basilar impression, Chiari malformation and syringomyelia. The neuroanatomical controversy, the surgical treatment and the good outcome of the patient are discussed.

  20. Uterine arteriovenous malformation as a rare cause of genital bleeding

    International Nuclear Information System (INIS)

    Rodriguez, A.; Escartin, I.; Riazuelo, G.; Zaragozano, R.

    2002-01-01

    Uterine arteriovenous malformation is a rarely described entity, the presenting sign of which is usually genital bleeding. We report a case of this malformation in a woman of child-bearing age with a history of traumatic delivery and repeated subsequent curettage, describing the ultrasound, computed tomography and magnetic resonance findings, as well as the results of arteriography. (Author) 5 refs

  1. Effectiveness of the bowel management program in children with constipation secondary to anorectal malformation

    Directory of Open Access Journals (Sweden)

    Karla A. Santos Jasso

    2014-07-01

    with the condition were included. Results: of 151 children with ARM monitored in outpatient service, only 67.33% had constipation. Of this group, 88.1% showed good response to the BMP. The average dose of sennoside was 8.45 mg/kg, 95% CI: 5.94-11.12 mg/kg (199.5 mg total dose; 95% CI: 139.50-259.50 mg. Abdominal cramp was the primary adverse effect reported (5.8%. Discussion: use of sennosides had a positive impact on our patients’ quality of life by achieving colonic and rectal emptying and preventing daily fecal staining.

  2. POSTOPERATIVE ABNORMALITIES OF INTESTINE AND FACILITIES OF IT'S CORRECTION IN CHILDREN WITH ANORECTAL MALFORMATION

    Directory of Open Access Journals (Sweden)

    U.Sh. Karimov

    2007-01-01

    Full Text Available In abstract the authors represent the observation after 114 patients in age from 1 till 14 years passing the treatment last 15 years. All of them were been operated in cause of an rectal abnormality and suffering by dysfunction of terminal part of intestine and unsuccessful treatment of medics of different specification. Authors developed the principles of treatment accounting peculiarity and type of dysfunction, which noticeably improve the results of treatment.Key words: congenital abnormality of an rectal zone, motility disturbances of large intestine, children.

  3. Two-stage repair of low anorectal malformations in girls: is it truly a ...

    African Journals Online (AJOL)

    continence in these children because of wound dehiscence and infection; thus, protective colostomy may still be ... the protective effect on wound healing after anal reconstruction. The aim of this study was to define ... Pena [3] introduced the PSARP for infants and children with ARM. They advocated performing a colostomy ...

  4. Outcome in anorectal malformation type rectovesical fistula : a nationwide cohort study in The Netherlands

    NARCIS (Netherlands)

    van der Steeg, H. J. J.; Botden, S. M. B. I.; Sloots, C. E. J.; van der Steeg, A. F. W.; Broens, P. M. A.; van Heurn, L. W. E.; Travassos, D. V.; van Rooij, I. A. L. M.; de Blaauw, I.

    Purpose: Outcomes of patients with an ARM-type rectovesical fistula are scarcely reported in medical literature. This study evaluates associated congenital anomalies and long-term colorectal and urological outcome in this group of ARM-patients. Methods: A retrospective Dutch cohort study on patients

  5. Impact of Low Anorectal Malformation on Parenting Stress: A Mixed-Method Study.

    Science.gov (United States)

    Wigander, Helena; Öjmyr-Joelsson, Maria; Frenckner, Björn; Wester, Tomas; Nisell, Margret

    2018-05-17

    The purpose of this study was to investigate parenting stress among parents of children with low ARM. 1) Compare parenting stress among parents of children with low ARM, with parents of healthy children using questionnaires. 2) Identify subscales within the questionnaire which needed to be further explored. 3) Use semi-structured interviews with parents of children with low ARM, to explore parenting stress and to explain, expand and or support the quantitative findings. An explanatory sequential mixed methods design was used in this follow up study. The parents completed the Swedish Parenthood Stress Questionnaire (SPSQ), semi-structured interviews were conducted. Fifteen mothers and 13 fathers of children with low ARM age 8-18, returned completed questionnaires. A control group of 17 mothers and 6 fathers of healthy children age 8-18 that had visited the hospital for a minor procedure was recruited for comparison purposes. There were no significant differences found between index group and controls except in the subscale Incompetence, where parents of children with low ARM reported lower levels of stress compared to controls. Nine semi-structured interviews were conducted with parents of children with low ARM. Qualitative content analysis was used and revealed three themes - Communication between parents, Expectations of parenthood, and Challenges concerning parenthood. Parents of children with low ARM did not report high levels of stress. When interviewed, they told about earlier experiences of emotional stress, feelings of guilt, and chaos at the time the child was born and during infancy. Copyright © 2018. Published by Elsevier Inc.

  6. Recent advances in MRI in the preoperative assessment of anorectal malformations

    Directory of Open Access Journals (Sweden)

    Rania Farouk Elsayed

    2016-09-01

    Conclusion: MRI is a valuable diagnostic tool to diagnose type and level of ARM in addition to the privilege of associated anomalies detection on the same examination. The 3D sequence acquisition with multiplanar reconstruction has the advantage of time saving without compromise on image quality or the diagnostic accuracy compared to 2D images.

  7. Postoperative MR evaluation of the neorectum in patients with congenital anorectal malformations

    International Nuclear Information System (INIS)

    Hedlund, G.L.; Bisset, G.S.

    1989-01-01

    Five patients with an original diagnosis of supralevator anal atresia had fecal incontinence following pull-through procedures. The imaging evaluation initially included barium enema and MR studies. Perineal electrostimulation data were also obtained. MR imaging was performed with a 1.5-T system. A tuberculin syringe filled with chloral hydrate was inserted into the neorectum to serve as a high-signal-intensity lumen marker. T1-weighted images were obtained in the sagittal, coronal, and axial planes with a spin-echo pulse sequence 60/20 (repetition time msec). The neorectum was determined to be centrally positioned or eccentrically placed within the external anal sphincter and puborectalis muscles. Prospectively, MR imaging accurately indicated the position of the neorectum relative to the sphincteric muscular complex. Perineal electrostimulation data were concordant with MR findings in all patients. Barium enema was helpful in one patient with rectal stricture at the pull-through site. The authors discuss how MR imaging of the postoperative neorectum in patients with fecal incontinence provides useful information in planning the surgical revision

  8. Embolization of spinal arteriovenous malformations

    International Nuclear Information System (INIS)

    Son, Mi Young; Kim, Sun Yong; Park, Bok Hwan

    1990-01-01

    Recently, therapeutic embolization has been advocated as the treatment of choice for spinal AVM(arteriovenous malformations). The authors review our experience with two cases of spinal AVM treated by embolization using coaxial Tracker-18 microcatheter with Latvian. The patients included a 10 year old male with glomus type and a 14 year old female with juvenile type spinal AVM revealed recanalization 5 month later. Embolization provides curative or temporary treatment for spinal AVM. After embolic occlusion, delayed reassessment with arteriography is indicated, particularly if symptoms persist or recur

  9. Gastroschisis in Europe - A Case-malformed-Control Study of Medication and Maternal Illness during Pregnancy as Risk Factors

    DEFF Research Database (Denmark)

    Given, Joanne E; Loane, Maria; Garne, Ester

    2017-01-01

    BACKGROUND: Gastroschisis, a congenital anomaly of the abdomen, is associated with young maternal age and has increased in prevalence in many countries. Maternal illness and medication exposure are among environmental risk factors implicated in its aetiology. METHODS: A population-based case-malf...

  10. Pattern of Gross Congenital Malformations in a Tertiary Referral Hospital in Northeast India.

    Science.gov (United States)

    Baruah, Jenita; Kusre, Giriraj; Bora, Reeta

    2015-10-01

    To explore the prevalence of structural congenital malformations among newborns and study some of the fetal and maternal characteristics of the malformed babies in North east India where such systematic study on congenital malformation has not been undertaken before. A cross sectional study was undertaken from May 2010 through Feb 2013 for estimation of gross congenital malformations among live birth and stillbirth children born in Assam Medical College. All live births were clinically examined for detection of gross congenital malformations and autopsy was carried out on still births and neonates dying within 24 h of birth to detect gross congenital malformations in the internal organs. All malformations were classified as per ICD 10 classification. The mothers of the newborns with congenital malformations were interviewed in a predesigned, pretested proforma. The variables included maternal age, antenatal registration, antenatal history of drug intake, consanguinity and previous history of malformations. Statistical analysis was done using chi square test. A total 18,192 births including live births and still births were examined and 206 cases of structural malformations were observed. Prevalence of congenital malformations was 1.2 % of the total live births. Distribution of malformation was predominant among males than in females (60.67 vs. 37.37 %; p malformation of the cardiovascular system was found to be very low. Malformations among stillbirths and newborns born to unregistered mothers were significantly more. Percentage of malformations in babies born to mothers of more than 30 y of age was higher than other age groups (2.2 %). Occurrence of malformations in low birth weight babies were significantly more (p malformations was 1.2 % of the total live births. Musculoskeletal system was the most common system involved. Congenital malformations were significantly associated with sex of the new born, registration of the mother and birth weight of the

  11. Exsanguinating upper GI bleeds due to Unusual Arteriovenous Malformation (AVM of stomach and spleen: a case report

    Directory of Open Access Journals (Sweden)

    Baqai Mohammad

    2009-05-01

    Full Text Available Abstract Background In this paper we are reporting one case of exsanguinating upper gastrointestinal tract (GIT bleed requiring massive blood transfusion and immediate life saving surgery. Case presentation A 30 years old female, 12 weeks pregnant was referred to our hospital from the earth-quake affected area of Kashmir with history of upper abdominal pain, haematemesis and melaena for one week. After stabilizing the patient, upper gastro-intestinal endoscopy was performed. It revealed gastric ulcer just distal to the gastro-esophageal junction on the lesser curvature. Biopsy from the ulcer edge led to profuse spurting of the blood and patient went into state of shock. Immediate resuscitation led to rebleeding and recurrence of post haemorrahagic shock. Conclusion The patient was immediately explored and total gastrectectomy with splenectomy concluded as life saving procedure. A review of literature was conducted to make this report possible.

  12. Scintigraphic defecography in various anorectal disorders

    Energy Technology Data Exchange (ETDEWEB)

    Ishii, Yuji; Oya, Masatoshi; Ishikawa, Hiroshi [Dokkyo Univ., School of Medicine, Saitama (Japan). Koshigaya Hospital

    1998-04-01

    Scintigraphic defecography was performed using {sup 99m}Tc-DATA to quantitatively evaluate defecation in 26 patients after low anterior resection of rectal cancer (LAP-group), 19 patients with chronic constipation (C-group), 11 patients with miscellaneous anal symptoms (AN-group), and 12 normal volunteers. After introducing semi-solid artificial stool containing {sup 99m}Tc-DTPA into the rectum, right lateral images of the anorectum were serially obtained during voluntary evacuation. From the time activity curve of the whole rectum, the half emptying time (T1/2) and the percentage of rectal evacuation (evacuation ratio) were calculated. Three abnormal patterns were identified: the flat type in which a temporary elevation of the RI activity, usually recorded in normal volunteers at the beginning of evacuation, was not recorded; the slow type in which T1/2 was over 20 seconds; and the poor evacuation type in which evacuation ratio was less than 80%. In the LAR-group, all the patients having very low anastomosis showed abnormal patterns irrespective of the type of reconstruction (straight or colonic J-pouch). In the C-group, 10 patients who had either slow pattern or poor evacuation pattern were suggested to have outlet obstruction. In the AN-group, the evacuation pattern differed from patient to patient. Scintigraphic defecography is useful in identifying abnormal evacuation in various anorectal disorders. (author)

  13. Scintigraphic defecography in various anorectal disorders

    International Nuclear Information System (INIS)

    Ishii, Yuji; Oya, Masatoshi; Ishikawa, Hiroshi

    1998-01-01

    Scintigraphic defecography was performed using 99m Tc-DATA to quantitatively evaluate defecation in 26 patients after low anterior resection of rectal cancer (LAP-group), 19 patients with chronic constipation (C-group), 11 patients with miscellaneous anal symptoms (AN-group), and 12 normal volunteers. After introducing semi-solid artificial stool containing 99m Tc-DTPA into the rectum, right lateral images of the anorectum were serially obtained during voluntary evacuation. From the time activity curve of the whole rectum, the half emptying time (T1/2) and the percentage of rectal evacuation (evacuation ratio) were calculated. Three abnormal patterns were identified: the flat type in which a temporary elevation of the RI activity, usually recorded in normal volunteers at the beginning of evacuation, was not recorded; the slow type in which T1/2 was over 20 seconds; and the poor evacuation type in which evacuation ratio was less than 80%. In the LAR-group, all the patients having very low anastomosis showed abnormal patterns irrespective of the type of reconstruction (straight or colonic J-pouch). In the C-group, 10 patients who had either slow pattern or poor evacuation pattern were suggested to have outlet obstruction. In the AN-group, the evacuation pattern differed from patient to patient. Scintigraphic defecography is useful in identifying abnormal evacuation in various anorectal disorders. (author)

  14. Subdural hematoma from a cavernous malformation.

    Science.gov (United States)

    Schmitt, Anne J; Mitha, Alim P; Germain, Rasha; Eschbacher, Jennifer; Spetzler, Robert F

    2014-01-01

    To present a case of a cavernous malformation presenting with a subdural hematoma. A 27-year-old woman was admitted with progressively worsening headache, vomiting, weakness, and word-finding difficulties 1 week after she was discharged from an outside hospital, where she was managed conservatively for a presumed traumatic subdural hematoma. Computed tomography revealed an enlarging subacute left hemispheric subdural hematoma for which she underwent drill craniostomy. Postprocedural magnetic resonance imaging showed a posterior left temporal lobe mass consistent with a cavernous malformation juxtaposed with the subdural hematoma. Craniotomy for resection of the lesion was performed. She had an uncomplicated postoperative course and experienced a good recovery. The signs and symptoms, diagnostic imaging, and intraoperative findings suggest that the subdural hematoma was caused by extralesional hemorrhage of the cavernous malformation, which is a rare finding associated with these malformations. The clinical course, radiologic, and intraoperative findings suggest that the subdural hemorrhage was caused by extralesional hemorrhage of the cavernous malformation. Copyright © 2014 Elsevier Inc. All rights reserved.

  15. MRI of the brain: malformations

    International Nuclear Information System (INIS)

    Treguier, C.; Heautot, J.F.; Gandon, Y.; Carsin, M.; Buhe, T.; Weppe, V.

    1990-01-01

    Brain malformations include occlusion, diverticula, neuronal migration abnormalities, cystic malformations, and histogenetic disorders in neurocutaneous syndromes. The multiple planes of section, excellent white/gray matter differentiation and accurate delineation of the brain cortex available with magnetic resonance imaging make it a tool of choice for the diagnosis of malformations, as well as for prognosis and genetic counseling [fr

  16. Percutaneous Cryotherapy of Vascular Malformation: Initial Experience

    Energy Technology Data Exchange (ETDEWEB)

    Cornelis, F., E-mail: francoiscornelis@hotmail.com [Institut Bergonie, Department of Radiology (France); Neuville, A. [Institut Bergonie, Department of Pathology (France); Labreze, C. [Pellegrin Hospital, Department of Pediatric Dermatology (France); Kind, M. [Institut Bergonie, Department of Radiology (France); Bui, B. [Institut Bergonie, Department of Oncology (France); Midy, D. [Pellegrin Hospital, Department of Vascular Surgery (France); Palussiere, J. [Institut Bergonie, Department of Radiology (France); Grenier, N. [Pellegrin Hospital, Department of Radiology (France)

    2013-06-15

    The present report describes a case of percutaneous cryotherapy in a 36-year-old woman with a large and painful pectoral venous malformation. Cryoablation was performed in a single session for this 9-cm mass with 24 h hospitalisation. At 2- and 6-month follow-up, the pain had completely disappeared, and magnetic resonance imaging demonstrated a significant decrease in size. Percutaneous cryoablation shows promise as a feasible and apparently safe method for local control in patients with symptomatic venous vascular malformations.

  17. Percutaneous Cryotherapy of Vascular Malformation: Initial Experience

    International Nuclear Information System (INIS)

    Cornelis, F.; Neuville, A.; Labrèze, C.; Kind, M.; Bui, B.; Midy, D.; Palussière, J.; Grenier, N.

    2013-01-01

    The present report describes a case of percutaneous cryotherapy in a 36-year-old woman with a large and painful pectoral venous malformation. Cryoablation was performed in a single session for this 9-cm mass with 24 h hospitalisation. At 2- and 6-month follow-up, the pain had completely disappeared, and magnetic resonance imaging demonstrated a significant decrease in size. Percutaneous cryoablation shows promise as a feasible and apparently safe method for local control in patients with symptomatic venous vascular malformations.

  18. CT findings in Arnold-Chiari malformation

    Energy Technology Data Exchange (ETDEWEB)

    Tanaka, Y.; Nakamura, S. (Aichi Prefecture Colony, Kasugai (Japan). Central Hospital); Yamada, H.; Kageyama, N.

    1981-12-01

    CT scans of Arnold-Chiari malformations demonstrate many abnormal findings that are considered to be specific for this type of malformation. Fifty patients with Arnold-Chiari malformations were studied, and their CT findings were analyzed. This number included 14 preshunted neonatal cases and 36 post-shunted infantile cases. Craniolacunia was recognized only in the neonatal cases, but other skull changes, including scaphocephaly and petrous scalloping, were found more frequently in the infantile cases. The posterior fossa abnormality was composed of several specific changes, such as a non-visualized fourth ventricle, a lateral or upward growth of the cerebellum, or a beaking deformity of the midbrain. These findings were far more common in the infantile cases. However, in 7 neonatal cases on which CT cisternography was performed, these posterior fossa changes were well recognized in the majority of cases. Hydrocephalus was found in all cases. In half of the post-shunted infantile cases, the lateral ventricles were markedly collapsed. Characteristic features of the lateral ventricles, such as a protruding of the caudate nuclei, a pointing of the frontal and/or occipital horns, an absent septum pellucidum, or dominently dilated occipital horns, were commonly found in both neonatal and infantile cases. The subarachnoid space was remarkably widened at the retrothalamic cistern and/or the interhemispheric fissure in many cases.

  19. Imaging of head and neck venous malformations

    International Nuclear Information System (INIS)

    Flis, Christine M.; Connor, Stephen E.

    2005-01-01

    Venous malformations (VMs) are non proliferative lesions that consist of dysplastic venous channels. The aim of imaging is to characterise the lesion and define its anatomic extent. We will describe the plain film, ultrasound (US) (including colour and duplex Doppler), computed tomography (CT), magnetic resonance imaging (MRI), conventional angiographic and direct phlebographic appearances of venous malformations. They will be illustrated at a number of head and neck locations, including orbit, oral cavity, superficial and deep facial space, supraglottic and intramuscular. An understanding of the classification of such vascular anomalies is required to define the correct therapeutic procedure to employ. Image-guided sclerotherapy alone or in combination with surgery is now the first line treatment option in many cases of head and neck venous malformations, so the radiologist is now an integral part of the multidisciplinary management team. (orig.)

  20. Meningitis after cochlear implantation in Mondini malformation.

    Science.gov (United States)

    Page, E L; Eby, T L

    1997-01-01

    Although the potential for CSF leakage and subsequent meningitis after cochlear implantation in the malformed cochlea has been recognized, this complication has not been previously reported. We report a case of CSF otorhinorrhea and meningitis after minor head trauma developing 2 years after cochlear implantation in a child with Mondini malformation. Leakage of CSF was identified from the cochleostomy around the electrode of the implant, and this leak was sealed with a temporalis fascia and muscle plug. Although this complication appears to be rare, care must be taken to seal the cochleostomy in children with inner ear malformations at the initial surgery, and any episode of meningitis after surgery must be thoroughly investigated to rule out CSF leakage from the labyrinth.

  1. Cystic malformations of the neck in children

    Energy Technology Data Exchange (ETDEWEB)

    Koch, Bernadette L. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States)

    2005-05-01

    The most common cystic malformations of the neck are the result of abnormal embryogenesis involving the thyroglossal duct (TGD), lymphatic primordia and the branchial apparatus. When the basic embryology of these structures is considered, a reasonable differential diagnosis - and in some cases a definitive diagnosis - can be achieved based on the location and the imaging characteristics of the cystic mass. (orig.)

  2. Cystic malformations of the neck in children

    International Nuclear Information System (INIS)

    Koch, Bernadette L.

    2005-01-01

    The most common cystic malformations of the neck are the result of abnormal embryogenesis involving the thyroglossal duct (TGD), lymphatic primordia and the branchial apparatus. When the basic embryology of these structures is considered, a reasonable differential diagnosis - and in some cases a definitive diagnosis - can be achieved based on the location and the imaging characteristics of the cystic mass. (orig.)

  3. Vascular permeability in cerebral cavernous malformations

    DEFF Research Database (Denmark)

    Mikati, Abdul G; Khanna, Omaditya; Zhang, Lingjiao

    2015-01-01

    Patients with the familial form of cerebral cavernous malformations (CCMs) are haploinsufficient for the CCM1, CCM2, or CCM3 gene. Loss of corresponding CCM proteins increases RhoA kinase-mediated endothelial permeability in vitro, and in mouse brains in vivo. A prospective case-controlled observ...

  4. Congenital malformation of inner ear, single cavity

    International Nuclear Information System (INIS)

    Torres Pazmino, Julio Cesar; Marrugo Pardo, Gilberto Eduardo

    2010-01-01

    Congenital malformations of the inner ear are rare conditions, but their detection requires high diagnostic accuracy. In this report we describe the case of a patient with single or common cavity, discuss the corresponding radiological images, describe the treatment of this patient with a cochlear implant, and review the classification and differential diagnosis of the other anomalies of the inner ear.

  5. Sex and congenital malformations: An international perspective

    NARCIS (Netherlands)

    Lisi, A.; Botto, L.D.; Rittler, M.; Castilla, E.; Botting, B.; De Walle, H.; Erickson, J.D.; Gatt, M.; De Vigan, C.; Irgens, L.; Johnson, W.; Lancaster, P.; Merlob, P.; Mutchinick, O.M.; Ritvanen, A.; Robert, 28033; Scarano, G.; Stoll, C.; Mastroiacovo, P.

    2005-01-01

    The study evaluated the sex distribution of major isolated malformations and common trisomies among a large and geographically varied sample. Eighteen registries from 24 countries contributed cases, which were centrally reviewed and classified in three clinical types as isolated, associated, or

  6. Sex and congenital malformations : An international perspective

    NARCIS (Netherlands)

    Lisi, A; Botto, LD; Rittler, M; Castilla, E; Bianchi, F; Botting, B; De Walle, H; Erickson, JD; Gatt, M; De Vigan, C; Irgens, L; Johnson, W; Lancaster, P; Merlob, P; Mutchinick, OM; Ritvanen, A; Robert, E; Scarano, G; Stoll, C; Mastroiacovo, P

    2005-01-01

    The study evaluated the sex distribution of major isolated malformations and common trisomies among a large and geographically varied sample. Eighteen registries from 24 countries contributed cases, which were centrally reviewed and classified in three clinical types as isolated, associated, or

  7. Pattern of congenital brain malformations at a referral hospital in Saudi Arabia: An MRI study

    International Nuclear Information System (INIS)

    Alorainy, Ibrahim A.

    2006-01-01

    More than 2000 different congenital cerebral malformations have been described in the literature, for which several classification systems have been proposed. With the help of these classification systems, it is now possible, with neuroimaging, to time neuroembtyologic events. Magnetic resonance imaging (MRI), in particular, is useful in studying these malformations. This study evaluated the pattern of congenital brain malformations in a university referral hospital setting. The records of all MRI brain examinations at our hospital over a period of 3 years for children younger than 15 years of age were reviewed. Cases of congenital cerebral malformations were analyzed by sex, age at presentation, type of congenital cerebral malformation and other associated congenital cerebral malformations. Of the 808 MR examinations of different parts of the body for children in the study period, 719 (89%), on 581 patients, were of the brain. Eighty-six children (14.8%) were found to have single or multiple congenital brain malformations. In these children, 114 congenital brain malformations were identified, the commonest being cortical migrational defects (25 patients, 22%), neural tube closure defects (22 patients, 19%), and corpus callosum dysgenesis (22 patients 19%). The least common was vascular malformation. Sixteen patients (18.6%) had more than one congenital brain malformations. Neural tube closer defects, cortical migrational abnormalities, and corpus callosum anomalies were the commonest congenital brain malformations, while vascular malformations were the least common. Most of the identified malformations demonstrated the usual pattern, but a few showed unusual patterns and associations. (author)

  8. Radiosurgery for brain arteriovenous malformations

    International Nuclear Information System (INIS)

    Latorzeff, I.; Schlienger, M.; Sabatier, J.; Borius, P.Y.; Lotterie, J.A.; Bourdin, S.; Menegalli, D.; Cognard, C.; Januel, A.C.; Desal, H.; Debono, B.; Blond, S.

    2012-01-01

    Radiosurgery as treatment for arteriovenous malformations has shown a good efficacy in reducing intracranial bleeding due to rupture. The choice of therapeutic modalities is based on evolutive risk and arteriovenous malformations volume, patient profile and risks stratification following therapeutic techniques (microsurgery, radiosurgery, embolization). Nidus size, arteriovenous malformations anatomical localization, prior embolization or bleeding, distributed dose are predictive factors for radio-surgery's good results and tolerance. This review article will highlight arteriovenous malformations radiosurgery indications and discuss recent irradiation alternatives for large arteriovenous malformation volumes. (authors)

  9. Lymphatic malformations: a proposed management algorithm.

    LENUS (Irish Health Repository)

    Oosthuizen, J C

    2012-02-01

    OBJECTIVE: The aim of this study was to develop a management algorithm for cervicofacial lymphatic malformations, based on the authors\\' experience in managing these lesions as well as current literature on the subject. STUDY DESIGN AND METHODS: A retrospective medical record review of all the patients treated for lymphatic malformations at our institution during a 10-year period (1998-2008) was performed. DATA COLLECTED: age at diagnosis, location and type of lesion, radiologic investigation performed, presenting symptoms, treatment modality used, complications and results achieved. RESULTS: 14 patients were identified. Eight (57%) male and six (43%) female. There was an equal distribution between the left and right sides. The majority (71%) of cases were diagnosed within the first year of life. The majority of lesions were located in the suprahyoid region. The predominant reason for referral was an asymptomatic mass in 7 cases (50%) followed by airway compromise (36%) and dysphagia (14%). Management options employed included: observation, OK-432 injection, surgical excision and laser therapy. In 5 cases (36%) a combination of these were used. CONCLUSION: Historically surgical excision has been the management option of choice for lymphatic malformations. However due to the morbidity and high complication rate associated this is increasingly being questioned. Recent advances in sclerotherapy e.g. OK-432 injection have also shown significant promise. Based on experience in managing these lesions as well as current literature the authors of this paper have developed an algorithm for the management of cervicofacial lymphatic malformations.

  10. Evaluation of the anorectal sphincter using MRI

    International Nuclear Information System (INIS)

    Kohda, Ehiichi

    1994-01-01

    Until now the evaluation of how to function on the sphincter muscle complex on the imaging study has been done by defecography. The purpose of this paper is to show the normal and abnormal functions of sphincter muscle complex at rest and squeeze using MRI. The subjects were 15 volunteers with informed consent and 13 post operative patients with a history anorectal anomalies. MR images were obtained with a 1.5 T unit. Sagittal and axial planes were evaluated both at rest and squeeze. Squeeze was simulated by insufflating a rectal balloon or enema on the volunteers. Only light stimulation was stressed on the post operative patients by means of balloon insufflation with 50 ml air. Under balloon stimulation, 71% of normal sphincter muscle complexes contracted only transverse dimention. The rest was as is. None revealed significant distension. All patients with continence demonstrated the same transverse contraction. Patients with incontinence showed no significant contraction. Under enema stimulation for normal subjects, sphincter muscle complex distended on both dimensions. Gluteal muscle contracted 50% of volunteers under enema stimulation. All post operative patients with continence demonstrated gluteal muscles contractions. Normal sphincter muscle complex contracts only in transverse dimension under balloon stimulation, which is caused by the muscle. Under enema stimulation, it distends on both dimensions. Gluteal muscle contract only under enema stimulation. In post operative patients, MRI shows different functions of anal sphincter muscle complex between continent and incontinent groups. It may explain causes of incontinence. The gluteal muscle and puborectal muscle seem to have one of the essentials for continence. (author)

  11. Patient characteristics and treatment outcome in functional anorectal pain.

    Science.gov (United States)

    Atkin, Gary K; Suliman, Amna; Vaizey, Carolynne J

    2011-07-01

    Functional anorectal pain occurs in the absence of any clinical abnormality. It is common and disabling; it has previously been reported in only a few studies involving small patient numbers. This study aimed to report the clinical characteristics and treatment outcomes for patients with functional anorectal pain. Patient demographics, clinical history, and tests results for all referrals for anorectal physiological testing between 1997 and 2009 were prospectively recorded. For patients with functional anorectal pain, further information was gained from clinical notes. Clinical history, anorectal physiology, and radiological imaging data were recorded for all patients; treatment outcome was noted for patients treated and followed up at the present unit. One hundred seventy patients, 99 female, with a median age of 48 years (range, 18-86), were studied. Patients were classified as having chronic proctalgia (pain duration ≥20 min, 158 patients) or proctalgia fugax (pain duration proctalgia fugax had a higher internal anal sphincter thickness and resting pressure than patients with chronic proctalgia, whereas patients with a family history of similar symptoms were more likely to have proctalgia fugax and higher resting pressures and internal anal sphincter thickness compared with those without a family history of these symptoms. Patients referred for treatment underwent a range of interventions including biofeedback (29 patients, 17 improved), tricyclic antidepressants (26 patients, 10 improved), Botox injection (9 patients, 5 improved), and sacral nerve stimulation (3 patients, 2 improved). Biofeedback had the greatest treatment effect, especially in patients with defecatory dysfunction. Biofeedback is beneficial in the subset of patients with functional anorectal pain and difficulty with defecation. Tricyclic antidepressants, Botox, and sacral nerve stimulation may also have a role.

  12. The pitfalls of treating anorectal conditions after radiotherapy for prostate cancer.

    LENUS (Irish Health Repository)

    Thornhill, J A

    2012-03-01

    We present a salutary lesson learned from three cases with significant complications that followed anorectal intervention in the presence of radiation proctitis due to prior radiotherapy for adenocarcinoma of the prostate. After apparent routine rubber band ligation for painful haemorrhoids, one patient developed a colo-cutaneous fistula. Following laser coagulation for radiation proctitis, one patient required a pelvic exenteration for a fistula, while another developed a rectal stenosis. Those diagnosing and treating colonic conditions should be mindful of the increased prevalence of patients who have had radiotherapy for prostate cancer and the potential for complications in treating these patients.

  13. Surgical experience with arteriovenous malformations of the brain

    International Nuclear Information System (INIS)

    Stein, B.M.

    1984-01-01

    Personal experience with the treatment of 200 arteriovenous malformations of the brain seen during the past decade is presented. One hundred and twenty of these patients underwent surgery, with a mortality of 1,7%. The morbidity rate of 10% includes cases of hemianopia after occipital malformations had been removed. Significant morbidity, including aphasia, hemiparesis and hemisensory loss, occurred in under 10% of cases. Computerized tomography plays an important role in determining the relationships of the arteriovenous malformations to associated structures such as the ventricular system

  14. Fetal magnetic resonance imaging of thoracic and abdominal malformations

    International Nuclear Information System (INIS)

    Woitek, R.; Asenbaum, U.; Furtner, J.; Prayer, D.; Brugger, P.C.

    2013-01-01

    Diagnosis and differential diagnosis of fetal thoracic and abdominal malformations. Ultrasound and magnetic resonance imaging (MRI). In cases of suspected pathologies based on fetal ultrasound MRI can be used for more detailed examinations and can be of assistance in the differential diagnostic process. Improved imaging of anatomical structures and of the composition of different tissues by the use of different MRI sequences. Fetal MRI has become a part of clinical routine in thoracic and abdominal malformations and is the basis for scientific research in this field. In cases of thoracic or abdominal malformations fetal MRI provides important information additional to ultrasound to improve diagnostic accuracy, prognostic evaluation and surgical planning. (orig.) [de

  15. Cerebellar arteriovenous malformations in children

    Energy Technology Data Exchange (ETDEWEB)

    Griffiths, P.D. [Sheffield Univ. (United Kingdom). Acad. Dept. of Radiol.; Blaser, S.; Armstrong, D.; Chuang, S.; Harwood-Nash, D. [Division of Neuroradiology, The Hospital for Sick Children and University of Toronto, Toronto (Canada); Humphreys, R.P. [Division of Neurosurgery, The Hospital for Sick Children and University of Toronto, Toronto (Canada)

    1998-05-01

    We review the presentation, imaging findings and outcome in 18 children with cerebellar arteriovenous malformations (AVM). This group is of particular interest because of the reported poor outcome despite modern imaging and neurosurgical techniques. All children had CT and 15 underwent catheter angiography at presentation. Several of the children in the latter part of the study had MRI. Of the 18 children, 17 presented with a ruptured AVM producing intracranial haemorrhage. The remaining child presented with temporal lobe epilepsy and was shown to have temporal, vermian and cerebellar hemisphere AVM. This child had other stigmata of Osler-Weber-Rendu syndrome. Three other children had pre-existing abnormalities of possible relevance. One had a vascular malformation of the cheek and mandible, one a documented chromosomal abnormality and another a midline cleft upper lip and palate. Six of the 17 children with a ruptured cerebellar AVM died within 7 days of the ictus. Vascular pathology other than an AVM was found in 10 of the 14 children with a ruptured cerebellar AVM who had angiography: 4 intranidal aneurysms, 5 venous aneurysms and 2 cases of venous outflow obstruction (one child having both an aneurysm and obstruction). The severity of clinical presentation was directly related to the size of the acute haematoma, which was a reasonable predictor of outcome. (orig.) With 4 figs., 4 tabs., 23 refs.

  16. Cerebellar arteriovenous malformations in children

    International Nuclear Information System (INIS)

    Griffiths, P.D.; Humphreys, R.P.

    1998-01-01

    We review the presentation, imaging findings and outcome in 18 children with cerebellar arteriovenous malformations (AVM). This group is of particular interest because of the reported poor outcome despite modern imaging and neurosurgical techniques. All children had CT and 15 underwent catheter angiography at presentation. Several of the children in the latter part of the study had MRI. Of the 18 children, 17 presented with a ruptured AVM producing intracranial haemorrhage. The remaining child presented with temporal lobe epilepsy and was shown to have temporal, vermian and cerebellar hemisphere AVM. This child had other stigmata of Osler-Weber-Rendu syndrome. Three other children had pre-existing abnormalities of possible relevance. One had a vascular malformation of the cheek and mandible, one a documented chromosomal abnormality and another a midline cleft upper lip and palate. Six of the 17 children with a ruptured cerebellar AVM died within 7 days of the ictus. Vascular pathology other than an AVM was found in 10 of the 14 children with a ruptured cerebellar AVM who had angiography: 4 intranidal aneurysms, 5 venous aneurysms and 2 cases of venous outflow obstruction (one child having both an aneurysm and obstruction). The severity of clinical presentation was directly related to the size of the acute haematoma, which was a reasonable predictor of outcome. (orig.)

  17. Qualitative assessment of anorectal junction levels and anorectal angles to investigate functional differences between constipation and fecal incontinence

    International Nuclear Information System (INIS)

    Shannon, S.I.; Somers, S.; Anvari, M.; Stevenson, G.W.; Waterfall, W.E.; Huizinga, J.D.

    1989-01-01

    Female patients consecutively referred for defecography, with either chronic constipation or incontinence, were assessed for posterior anorectal angle and anorectal junction level as measured from the ischial tuberosities. The clinical groups did not differ in grades of rectoceles, enteroceles, or intussusception. Both constipated and incontinent patients had a low resting anorectal junction position compared with that of volunteers, indicating a stretched pelvic floor. Despite this, the constipated patients achieved a similar degree of lift of the pelvic floor on squeezing as controls, and they also showed significant angle changes on lifting and straining. Incontinent patients showed a significantly smaller amount of lift than controls, a significantly larger descent than constipated patients, and no angle changes on lifting and straining. These data are consistent with significantly weaker pelvic floor muscles in incontinent compared with constipated patients, despite a similar degree of stretching

  18. Dietary non-esterified oleic Acid decreases the jejunal levels of anorectic N-acylethanolamines

    DEFF Research Database (Denmark)

    Diep, Thi Ai; Madsen, Andreas N; Krogh-Hansen, Sandra

    2014-01-01

    mice respond to dietary fat (olive oil) by reducing levels of anorectic NAEs, and 3) whether dietary non-esterified oleic acid also can decrease levels of anorectic NAEs in mice. We are searching for the fat sensor in the intestine, which mediates the decreased levels of anorectic NAEs. METHODS: Male...... of anorectic NAEs in mice. CONCLUSIONS: These results suggest that the down-regulation of the jejunal level of anorectic NAEs by dietary fat is not restricted to rats, and that the fatty acid component oleic acid, in dietary olive oil may be sufficient to mediate this regulation. Thus, a fatty acid sensor may...

  19. RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation.

    Science.gov (United States)

    Flore, Leigh Anne; Leon, Eyby; Maher, Tom A; Milunsky, Jeff M

    2012-06-01

    Capillary malformation-arteriovenous malformation (CM-AVM; MIM 60354) is an autosomal dominant disorder characterized by multifocal cutaneous capillary malformations, often in association with fast-flow vascular lesions, which may be cutaneous, subcutaneous, intramuscular, intraosseus, or cerebral arteriovenous malformations or arteriovenous fistulas. CM-AVM results from heterozygous mutations in the RASA1 gene. Capillary malformations of the skin are common, and clinical examination alone may not be able to definitively diagnose-or exclude- CM-AVM. We report a family in which the proband was initially referred for a genetic evaluation in the neonatal period because of the presence of a cardiac murmur and minor dysmorphic features. Both he and his mother were noted to have multiple capillary malformations on the face, head, and extremities. Echocardiography revealed dilated head and neck vessels and magnetic resonance imaging and angiography of the brain revealed a large infratentorial arteriovenous fistula, for which he has had two embolization procedures. RASA1 sequence analysis revealed a heterozygous mutation, confirming his diagnosis of CM-AVM. We established targeted mutation analysis for the proband's mother and sister, the latter of whom is a healthy 3-year-old whose only cutaneous finding is a facial capillary malformation. This revealed that the proband's mother is also heterozygous for the RASA1 mutation, but his sister is negative. Consequently, his mother will undergo magnetic resonance imaging and angiography screening for intracranial and spinal fast-flow lesions, while his sister will require no imaging or serial evaluations. Targeted mutation analysis has been offered to additional maternal family members. This case illustrates the benefit of molecular testing in diagnosis and making screening recommendations for families with CM-AVM.

  20. Congenital varicella-zoster virus infection. A rare case of severe brain and ocular malformations without limb or cutaneous involvement in a newborn after maternal subclinical infection

    International Nuclear Information System (INIS)

    Al-Katawee, Yousef A.; Al-Hasoun, Yousef A.; Taha, Mohamed N.; Al-Moslem, Khaled

    2005-01-01

    Although congenital varicella-zoster virus VZV infection is rare, it carries serious morbidity and mortality to the fetus and newborn infant. We report a full term female newborn infant, born to a multipara unbooked mother who had VZV subclinical infection during the first trimester of pregnancy. Routine newborn examination showed cystic malformation of the left eye, and absence of the right eye globe. Radiological work up revealed severe brain and eye malformations, serological studies of both mother and baby were positive for VZV. The baby underwent palliative surgery to the eyes, upon discharge, a plan of multidisciplinary team was made for follow up including neurologist, ophthalmologist, pediatrician and social worker. Congenital VZV infection can be severe enough to cause catastrophic fetal anomalies and damage to the vital organs as many of those infants die in infancy. (author)

  1. Middle and inner ear malformations in mutation-proven branchio-oculo-facial (BOF) syndrome: case series and review of the literature.

    Science.gov (United States)

    Carter, Melissa T; Blaser, Susan; Papsin, Blake; Meschino, Wendy; Reardon, Willie; Klatt, Regan; Babul-Hirji, Riyana; Milunsky, Jeff; Chitayat, David

    2012-08-01

    Hearing impairment is common in individuals with branchio-oculo-facial (BOF) syndrome. The majority of described individuals have conductive hearing impairment due to malformed ossicles and/or external canal stenosis or atresia, although a sensorineural component to the hearing impairment in BOF syndrome is increasingly being reported. Sophisticated computed tomography (CT) of the temporal bone has revealed middle and inner ear malformations in three previous reports. We present middle and inner ear abnormalities in three additional individuals with mutation-proven BOF syndrome. We suggest that temporal bone CT imaging be included in the medical workup of a child with BOF syndrome, in order to guide management. Copyright © 2012 Wiley Periodicals, Inc.

  2. [Anorectal injury after a fall from a jet ski

    NARCIS (Netherlands)

    Nieboer, T.E.; Assmann, R.F.; Withagen, M.I.J.; Geeraedts, L.M.G.

    2007-01-01

    A 28-year-old female sustained an anorectal rupture after a fall from a jet ski. The rupture was sutured and a double-loop colostomy was created. Three months later, following a test of functional continence, the colostomy was removed. The patient recovered without complications and with

  3. Importance of anorectal manometry after defi nitive surgery for ...

    African Journals Online (AJOL)

    Post-operative enterocolitis or severe constipation was observed in seven patients (38.8%). There were no patients with incontinence. Eighteen patients underwent anorectal manometry meanly 2 years after defi nitive operation. RAIR was absent in 14 (77.7%) patients and abnormal in 4 (22.2%). There were no signifi cant ...

  4. Plasma galanin concentrations in obese, normal weight and anorectic women.

    Science.gov (United States)

    Invitti, C; Brunani, A; Pasqualinotto, L; Dubini, A; Bendinelli, P; Maroni, P; Cavagnini, F

    1995-05-01

    Galanin is believed to play a role in the control of eating behavior. No information is available on its concentrations in the biological fluids in human obesity, and this study aimed to clarify this. We measured plasma galanin and serum insulin levels in 30 obese, 35 normal weight and 11 anorectic women. Mean galanin values were quite similar in obese and control subjects (76.8 +/- 3.20 vs 76.1 +/- 2.33 pg/ml) and only slightly reduced in anorectic patients (67.9 +/- 2.30 pg/ml). Insulin levels were significantly increased and decreased in obese and anorectic patients, respectively, compared to controls. Insulin correlated positively with BMI in the whole group of subjects studied (r = 0.72, P < 0.0001) and in the obese subgroup (r = 0.56, P < 0.02). No correlations could be detected between WH ratio, insulin and galanin concentrations and between galanin and BMI. In conclusion, plasma galanin concentrations appear to be comparable in obese, normal weight and anorectic subjects. This does not exclude a role of galanin in the regulation of eating behavior since variations of the peptide in discrete brain areas may not be detectable in general circulation and peripheral sources of the peptide may contribute to its plasma levels. Also, our data suggest that galanin does not play a major role in the regulation of insulin secretion in humans.

  5. Suboptimal correction of low anorectal anomalies: a possible cause ...

    African Journals Online (AJOL)

    The study included pediatric patients presenting with constipation following the repair of low anorectal anomalies (rectoperineal and rectovestibular fistulae). All patients complained of failure to pass stools sponta- neously with varying degrees of severity (Table 1). Most parents gave a history for their children suffering from.

  6. Cerebral malformations without antenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Girard, Nadine J. [Diagnostic Neuroradiology, Hopital Timone, Marseille (France)

    2010-06-15

    Cerebral malformations are usually described following the different steps in development. Disorders of neurulation (dysraphisms), or diverticulation (holoprosencephalies and posterior fossa cysts), and total commissural agenesis are usually diagnosed in utero. In contrast, disorders of histogenesis (proliferation-differentiation, migration, organization) are usually discovered in infants and children. The principal clinical symptoms that may be a clue to cerebral malformation include congenital hemiparesis, epilepsy and mental or psychomotor retardation. MRI is the imaging method of choice to assess cerebral malformations. (orig.)

  7. Clinical review of inner ear malformation

    International Nuclear Information System (INIS)

    Kokai, Hiromi; Oohashi, Masami; Ishikawa, Kazuo; Harada, Kouji; Hiratsuka, Hitoshi; Ogasawara, Makoto; Miyashita, Souji; Terayama, Yoshihiko

    2003-01-01

    We had 126 patients with inner ear malformation diagnosed with temporal bone computed tomography (CT) scans at Azabu Triology Hospital between 1996 and 2002. We classified cases of inner ear malformation according to Jackler et al. The incidence of inner ear malformation in our series was as follows; labyrinthine anomalies 61% (isolated lateral semicircular canal dysplasia 56%, compound semicircular canal dysplasia 4%, semicircular canal aplasia 1%), cochlear anomalies 24%, enlargement of the vestibular aqueduct 12%, narrow internal auditory canal 2%, complete labyrinthine aplasia 1%, enlargement of the cochlear aqueduct 0%. The most frequent anomaly was isolated lateral semicircular canal dysplasia. We did not detect any significant clinical features in this anomaly. There were 2 patients with cochlear anomalies who had past histories of meningitis. Some patients with enlargement of the vestibular aqueduct had frequent attacks of fluctuating hearing. Clinically it is important to detect patients with inner ear malformation such as cochlear anomalies and enlargement of the vestibular aqueduct usually accompanied by congenital sensorineural hearing loss. For patients with congenital sensorineural hearing loss, we recommend temporal bone CT scan. (author)

  8. Congenital Malformations in River Buffalo (Bubalus bubalis

    Directory of Open Access Journals (Sweden)

    Sara Albarella

    2017-02-01

    Full Text Available The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival. This review depicts, in the river buffalo (Bubalus bubalis world population, the present status of the congenital malformations, due to genetic causes, to identify their frequency and distribution in order to develop genetic breeding plans able to improve the productive and reproductive performance, and avoid the spreading of detrimental gene variants. Congenital malformations most frequently reported in literature or signaled by breeders to the Department of Veterinary Medicine and Animal Production of the University Federico II (Naples, Italy in river buffalo are: musculoskeletal defects (transverse hemimelia, arthrogryposis, umbilical hernia and disorders of sexual development. In conclusion this review put in evidence that river buffalo have a great variety of malformations due to genetic causes, and TH and omphalocele are the most frequent and that several cases are still not reported, leading to an underestimation of the real weight of genetic diseases in this species.

  9. Neuroradiological evaluation of dorsal cyst malformations

    International Nuclear Information System (INIS)

    Utsunomiya, Hidetsuna; Hayashi, Takashi; Hashimoto, Takeo; Matsuishi, Toyojiro; Okudera, Toshio.

    1988-01-01

    We discussed six cases with dorsal cyst malformations listing their neuroradiological observations and proposed to differentiate between the holosphere and hemisphere as defined by Yokota (1984). The cases were divided into holospheric and hemispheric groups depending on the continuity of their frontal lobe midlines. Cases 1, 2 and 3 were placed in the holospheric group because of their unseparated frontal lobe sbeneath the partially formed anterior interhemispheric fissures. Cases 4, 5 and 6 were grouped in the hemisphere due to the completion of the interhemispheric fissures. There has been a tendency in recent years for most cases of cerebral malformations having an endogenous dorsal cyst with monoventricular configuration to be diagnosed as holoprosencephaly. However, we believe that only patients who have a dorsal cyst in the holospheric brain should be included, and the others in the hemispheric brain, which is capable of completing hemispheric cleavage, should not. Therefore, we emphasize the importance of correctly identifying the holospheric state in the dorsal cyst malformations for diagnosing holoprosencephaly. (author)

  10. Genetics Home Reference: Dandy-Walker malformation

    Science.gov (United States)

    ... Twitter Home Health Conditions Dandy-Walker malformation Dandy-Walker malformation Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description Dandy-Walker malformation affects brain development, primarily development of the ...

  11. [Cochlear implant in patients with congenital malformation of inner ear].

    Science.gov (United States)

    Han, Dong-yi; Wu, Wen-ming; Xi, Xin; Huang, De-liang; Yang, Wei-yan

    2004-02-01

    To study surgical difficulty and key of the cochlear implant in patients with congenital malformation of inner ear. The cochlear implantations were performed in our department from Jan. 2001 to Apr. 2003 for 18 patients with the malformation of inner ear. In this series, there were 11 cases of large vestibular aqueduct syndrome (LVAS), 3 cases of Waardenberg syndrome, 3 cases of Mondini malformation, and 1 case of Usher syndrome. All 18 patients accepted the Nucleus 24-channel cochlear implantations, including Nucleus straight electrode in 13 cases but Contour implantation in 5 cases of LVAS. During operations, leakage of perilymph but not cerebrospinal fluid (CSF) from the open of scala tympani occurred in 11 cases of LVAS, however, the electrode was inserted successfully. The abnormalities of round window occurred in one of 3 cases of Waardenberg syndrome and 3 cases of Mondini malformation, respectively. The cochlear implant could be conducted successfully for the LVAS, and the postoperative effect was same as the ones for the deafness persons with normal development of inner ear. However, for the patients with Mondini syndrome and common cavity, it is important to accurately assess the extent of abnormalities in the inner ear and accompanied malformation before operation, and to evaluate the full extent of difficulties of the operation in order to minimize the risk of CSF leakage and meningitis.

  12. Eye malformations in Cameroonian children: a clinical survey

    Directory of Open Access Journals (Sweden)

    Eballé AO

    2012-10-01

    Full Text Available André Omgbwa Eballé,1,2 Augustin Ellong,3 Godefroy Koki,3 Ngoune Chantal Nanfack,3 Viola Andin Dohvoma,3 Côme Ebana Mvogo2,31Yaoundé Gynaecology, Obstetrics and Pediatrics Hospital, Yaoundé, Cameroon; 2Faculty of Medicine and Pharmaceutical Sciences, University of Douala, Cameroon; 3Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, CameroonSummary: The aim of this work was to describe the clinical aspects of eye malformations observed at the ophthalmology unit of the Yaoundé Gynaecology, Obstetrics and Pediatrics Hospital.Patients and methods: We carried out a retrospective study of all malformations of the eye and its adnexae observed among children aged 0–5 years who were seen at the ophthalmology unit from January 2003 to December 2009.Results: Out of the 2254 children who were examined, 150 (6.65% presented eye malformations. The mean age was 14.40 ± 4 months. Eye malformations were diagnosed in 71.66% of cases during the first year of life. The most frequent malformations were congenital lacrimal duct obstruction (66.66%, congenital cataract (10.9%, congenital glaucoma (10.9%, microphthalmos (5.03%, and congenital ptosis (3.77%.Conclusion: Eye malformations among children can lead to visual impairment and are a cause for discomfort to children and parents. Therefore, systematic postnatal screening is recommended to enable early management.Keywords: malformations, ophthalmology, child, Cameroon

  13. Congenital Malformations in River Buffalo (Bubalus bubalis)

    Science.gov (United States)

    Albarella, Sara; Ciotola, Francesca; D’Anza, Emanuele; Coletta, Angelo; Zicarelli, Luigi; Peretti, Vincenzo

    2017-01-01

    malformations most frequently reported in literature or signaled by breeders to the Department of Veterinary Medicine and Animal Production of the University Federico II (Naples, Italy) in river buffalo are: musculoskeletal defects (transverse hemimelia, arthrogryposis, umbilical hernia) and disorders of sexual development. In conclusion this review put in evidence that river buffalo have a great variety of malformations due to genetic causes, and TH and omphalocele are the most frequent and that several cases are still not reported, leading to an underestimation of the real weight of genetic diseases in this species. PMID:28208595

  14. Gastrointestinal system malformations in children are associated with congenital heart defects.

    Science.gov (United States)

    Orün, Utku Arman; Bilici, Meki; Demirçeken, Fulya G; Tosun, Mahya; Ocal, Burhan; Cavuşoğlu, Yusuf Hakan; Erdoğan, Derya; Senocak, Filiz; Karademir, Selmin

    2011-03-01

    To determine the frequency of congenital heart defects (CHD) in children with gastrointestinal malformations (GISM) and mortality rates in patients with GISM. Two hundred and forty two consecutive children patients with GISM followed up in Pediatric Surgery Clinics of our hospital were examined for cardiovascular anomaly by the Department of Pediatric Cardiology, and the CHD incidence was investigated by examining the records of the patients retrospectively. Chi-square test was used for the statistical analysis of data. Two hundred and forty two patients with gastrointestinal system malformations were included in the study. Of 242 patients, 135 (55.8%) were male and 107 (44.2%) were female, and their age range was 0-15 years. The most frequent GISM were anorectal malformations (43.2%), atresia involving stomach, ileum or colon (21%) and esophageal atresia/tracheoesophageal fistula (18.3%). Congenital heart defects were observed in 28.5% of the participants. The most frequent defects were as follows; atrial septal defect (31 patients, 44.9%) a, ventricular septal defect (17 patients, 24.6%) and patent ductus arteriosus (5 patients, 7.2%). There was no significant difference (p>0.05) in mortality rate in patients with CHD (16.7%) and without CHD (13.3%) undergoing operations for GISM. We would like to emphasize the importance of the earliest possible cardiological evaluation of all patients with gastrointestinal system malformations.

  15. Emergency hepatectomy for hepatic arteriovenous malformation combined with pulmonary hypertension in an infant

    Directory of Open Access Journals (Sweden)

    Naruhiko Murase

    2015-12-01

    Full Text Available Patients with hepatic arteriovenous malformations rarely present with pulmonary hypertension. We report the case of a 3-month-old boy who developed severe pulmonary hypertension due to a hepatic arteriovenous malformation. The use of pulmonary vasodilators to treat the patient's pulmonary hypertension worsened his high-output heart failure. This is the first case in which emergency hepatectomy rescued a patient with hepatic arteriovenous malformations who developed pulmonary hypertension.

  16. Genetics Home Reference: cerebral cavernous malformation

    Science.gov (United States)

    ... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke Educational Resources (7 links) Boston Children's Hospital: Cavernous Malformations Disease InfoSearch: Cerebral Cavernous Malformation ...

  17. Congenital cystic adenomatoid lung malformation of newborn

    International Nuclear Information System (INIS)

    Reither, M.; Peltner, H.U.; Weigel, W.; Braune, M.; Heiming, E.

    1980-01-01

    The congenital cystic adenomatoid malformation (CCAM) of the newborn is a particular form among the cystic disorders of the lung. The clinical findings, illustrated by four cases, and especially the roentgenographic symptoms are typical. Different radiologic examinations, including the computertomography, are discussed. The differential diagnosis of the disease is various, and therefore a correct and on time diagnosis is necessary, because the prognosis of the patient depends on an adequate therapy. (orig.) [de

  18. Contribution of Rare Copy Number Variants to Isolated Human Malformations

    Science.gov (United States)

    Serra-Juhé, Clara; Rodríguez-Santiago, Benjamín; Cuscó, Ivon; Vendrell, Teresa; Camats, Núria; Torán, Núria; Pérez-Jurado, Luis A.

    2012-01-01

    Background Congenital malformations are present in approximately 2–3% of liveborn babies and 20% of stillborn fetuses. The mechanisms underlying the majority of sporadic and isolated congenital malformations are poorly understood, although it is hypothesized that the accumulation of rare genetic, genomic and epigenetic variants converge to deregulate developmental networks. Methodology/Principal Findings We selected samples from 95 fetuses with congenital malformations not ascribed to a specific syndrome (68 with isolated malformations, 27 with multiple malformations). Karyotyping and Multiplex Ligation-dependent Probe Amplification (MLPA) discarded recurrent genomic and cytogenetic rearrangements. DNA extracted from the affected tissue (46%) or from lung or liver (54%) was analyzed by molecular karyotyping. Validations and inheritance were obtained by MLPA. We identified 22 rare copy number variants (CNV) [>100 kb, either absent (n = 7) or very uncommon (n = 15, malformations (21%), including 11 deletions and 11 duplications. One of the 9 tested rearrangements was de novo while the remaining were inherited from a healthy parent. The highest frequency was observed in fetuses with heart hypoplasia (8/17, 62.5%), with two events previously related with the phenotype. Double events hitting candidate genes were detected in two samples with brain malformations. Globally, the burden of deletions was significantly higher in fetuses with malformations compared to controls. Conclusions/Significance Our data reveal a significant contribution of rare deletion-type CNV, mostly inherited but also de novo, to human congenital malformations, especially heart hypoplasia, and reinforce the hypothesis of a multifactorial etiology in most cases. PMID:23056206

  19. Congenital cystic lung malformations; Konnatale zystische Lungenfehlbildungen

    Energy Technology Data Exchange (ETDEWEB)

    Stoever, B.; Scheer, I.; Bassir, C. [Klinik fuer Strahlenheilkunde, Berlin (Germany). Abt. Paediatrische Radiologie, Charite; Mau, H. [Campus Virchow-Klinikum, Klinik fuer Kinderchirurgie, Berlin (Germany); Chaoui, R. [Campus Mitte, Klinik fuer Geburtsmedizin, Berlin (Germany); Henrich, W. [Campus Virchow-Klinikum, Klinik fuer Geburtsmedizin, Berlin (Germany); Schwabe, M. [Campus Mitte, Inst. fuer Pathologie, Berlin (Germany); Wauer, R. [Campus Mitte, Klinik fuer Neonatologie, Berlin (Germany)

    2006-04-15

    Purpose: The aim of the study concerning congenital cystic lung malformations was to evaluate prenatal diagnoses postnatally to determine prognostic factors as well as to define optimized perinatal management. Materials and Methods: The study is based on 45 prenatal ultrasound examinations depicting fetal cystic lung lesions. 32 of the mothers had follow-up examinations. 5 pregnancies were terminated due to CCAM and additional malformations. Complete regression of the lesions was seen prenatally in 8 cases and postnatally in 5 children. Results: Surgical intervention due to respiratory insufficiency was necessary in 4 neonates. According to the imaging results, CCAM was present in 4 cases and sequestration in 7 patients. No correlation between the imaging findings and the surgical results was found in 3 children: One child suffered from rhadomyoid dysplasia, and in the case of the second child, a left-sided hernia of the diaphragm and additional sequestration were detected. The third child showed AV malformation. The cystic lesions of the 14 children operated upon were proven histologically. The degree of accuracy in the present study was high. Conclusion: Precise perinatal management is warranted in order to determine according to the clinical relevance surgical intervention and to prevent complications after the first year of life. This is performed during the neonatal period for respiratory insufficient neonates and within the first year of life for clinically stable children. (orig.)

  20. Currarino triad: surgical management and follow-up results of four [correction of three] cases.

    Science.gov (United States)

    Isik, Nejat; Elmaci, Ilhan; Gokben, Bekir; Balak, Naci; Tosyali, Nadir

    2010-08-01

    The Currarino syndrome is a rare triad that is a combination of a presacral mass, a congenital sacral bony abnormality and an anorectal malformation. We present 4 children with complete Currarino triad who were diagnosed using MRI. Our aim was to report the neurosurgical management of Currarino syndrome in children. All of the patients had chronic constipation and pain in the lumbosacral region. In the plain radiograph, 3 patients had a sacral scimitar-shaped bony abnormality, and 1 patient had total sacral agenesis. There was a narrow anal canal or narrow ventrally displaced anus in all patients. Their anorectal malformations were characterized as anal stenoses (4 patients), associated with Hirschsprung's disease in 2 cases. In 3 patients, MRI showed tethered cord syndrome in addition to the presacral mass. There was hydrocephalus in 1 patient. Anal stenosis was treated by anal dilatation. In 2 patients, rectal biopsy and temporary colostomy (2 patients) had been performed previously due to Hirschsprung's disease. We performed a posterior procedure via lumbar and sacral partial laminectomy-laminoplasty and transdural ligation of the neck of the meningocele for anterior sacral meningoceles, or alternatively, tumor excision for other types of presacral lesions. Histopathologically, 3 were cases of anterior sacral meningoceles and 1 was a teratoma. One of them also had a spinal abscess. He required reoperation (twice) and appeared at the time to have improved with medical therapy. All patients improved and stabilized. There were no additional neurological deficits and no recurrence of the presacral mass over the follow-up period (6 years, on average). The family pedigree did not reveal any familial transmission pattern. In cases of Currarino triad, MRI can allow the characterization of the presacral masses. If it is an anterior sacral meningocele or a solid tumor without severe anorectal malformation, it can be managed with posterior lumbar and sacral procedures

  1. Angiographic treatment of the arteriovenous malformation occurred after caesarean section

    Directory of Open Access Journals (Sweden)

    Selim Büyükkurt

    2009-03-01

    Full Text Available INTRODUCTION: Uterine arteriovenous malformations are classified as acquired or congenital. Caesarean section which is performed more frequently on nowadays, uterine curettage and other uterine surgeries are the most common causes of the acquired arteriovenous malformations. CASE: Twenty-two years old woman delivered her second child by caesarean section, due to history of caesarean section, was admitted with complaint of profuse vaginal bleeding 15 days after the surgery. She demonstrated the clinical features of the hypovolemic shock. At first she treated with four units of red blood suspension, two units of fresh frozen plasma and rapid infusion of the fluids. On endometrial curettage only blood and coagulum were obtained. The bleeding could only be controlled by the internal pressure of the 18 F Foley catheter. Doppler analyze of the uterus revealed a vascular malformation signifying a turbulent flow pattern with low pressure and high flow rate. A unilateral uterine artery embolization was performed her and her menstruel cycles are resumed at the fifth month of the puerperium. DISCUSSION: The clinical presentation of the uterine arteriovenous malformations depends on the localization and the dimensions of the malformation. The uterine arteriovenous malformation should be kept in mind in cases of late occurrence vaginal bleeding unresponsive to the uterotonic medications, especially in a woman with previous history of uterine damage, such as curettage or caesarean section.

  2. Altered erythrocyte Na-K pump in anorectic patients

    International Nuclear Information System (INIS)

    Pasquali, R.; Strocchi, E.; Malini, P.; Casimirri, F.; Ambrosioni, E.; Melchionda, N.; Labo, G.

    1985-01-01

    The status of the erythrocyte sodium pump was evaluated in a group of patients suffering from anorexia nervosa and a group of healthy female control subjects. Anorectic patients showed significantly higher mean values of digoxin-binding sites/cell (ie, the number of Na-K-ATPase units) with respect to control subjects while no differences were found in the specific 86 Rb uptake (which reflects the Na-K-ATPase activity) between the two groups. A significant correlation was found between relative weight and the number of Na-K-ATPase pump units (r = -0.66; P less than 0.0001). Anorectic patients showed lower serum T3 concentrations (71.3 +/- 53 ng/dL) with respect to control subjects (100.8 +/- 4.7 ng/dL; P less than 0.0005) and a significant negative correlation between T3 levels and the number of pump units (r = -0.52; P less than 0.003) was found. This study therefore shows that the erythrocyte Na-K pump may be altered in several anorectic patients. The authors suggest that this feature could be interrelated with the degree of underweight and/or malnutrition

  3. Anorectal dysfunction in constipated women with anorexia nervosa.

    Science.gov (United States)

    Chiarioni, G; Bassotti, G; Monsignori, A; Menegotti, M; Salandini, L; Di Matteo, G; Vantini, I; Whitehead, W E

    2000-10-01

    To evaluate anorectal and colonic function in a group of patients with anorexia nervosa complaining of chronic constipation. Twelve women (age range, 19-29 years) meeting the criteria for anorexia nervosa and complaining of chronic constipation were recruited for the study. A group of 12 healthy women served as controls. Colonic transit time was measured by a radiopaque marker technique. Anorectal manometry and a test of rectal sensation were carried out with use of standard techniques to measure pelvic floor dysfunction. A subgroup of 8 patients was retested after an adequate refeeding program was completed. Eight (66.7%) of 12 patients with anorexia nervosa had slow colonic transit times, while 5 (41.7%) had pelvic floor dysfunction. Colonic transit time normalized in the 8 patients who completed the 4-week refeeding program. However, pelvic floor dysfunction did not normalize in these patients. Patients with anorexia nervosa who complain of constipation have anorectal motor abnormalities. Delayed colonic transit time is probably due to abnormal eating behavior.

  4. Altered erythrocyte Na-K pump in anorectic patients

    Energy Technology Data Exchange (ETDEWEB)

    Pasquali, R.; Strocchi, E.; Malini, P.; Casimirri, F.; Ambrosioni, E.; Melchionda, N.; Labo, G.

    1985-07-01

    The status of the erythrocyte sodium pump was evaluated in a group of patients suffering from anorexia nervosa and a group of healthy female control subjects. Anorectic patients showed significantly higher mean values of digoxin-binding sites/cell (ie, the number of Na-K-ATPase units) with respect to control subjects while no differences were found in the specific /sup 86/Rb uptake (which reflects the Na-K-ATPase activity) between the two groups. A significant correlation was found between relative weight and the number of Na-K-ATPase pump units (r = -0.66; P less than 0.0001). Anorectic patients showed lower serum T3 concentrations (71.3 +/- 53 ng/dL) with respect to control subjects (100.8 +/- 4.7 ng/dL; P less than 0.0005) and a significant negative correlation between T3 levels and the number of pump units (r = -0.52; P less than 0.003) was found. This study therefore shows that the erythrocyte Na-K pump may be altered in several anorectic patients. The authors suggest that this feature could be interrelated with the degree of underweight and/or malnutrition.

  5. Utility of magnetic resonance imaging in anorectal disease

    Institute of Scientific and Technical Information of China (English)

    Loren Berman; Gary M Israel; Shirley M McCarthy; Jeffrey C Weinreb; Walter E Longo

    2007-01-01

    Imaging of both benign and malignant anorectal diseases has traditionally posed a challenge to clinicians, and as a result history and physical exam have been relied on heavily. CT scanning and endorectal ultrasound have become popular in assessment of anatomy and staging of tumors, but have limitations. Magnetic resonance imaging(MRI) has the capability to fill in the gaps left open by more conventional imaging modalities and continues to be promising as the definitive imaging technique in the pelvis, especially with advancement of emerging technologies in this field. A comprehensive review of this topic has been undertaken. Anorectal disease is divided into three broad categories: cancer, fistula/abscess,and pelvic floor disorders. A review of the literature is performed to evaluate the use of MRI and other imaging modalities in these three areas. Preoperative imaging is useful in the evaluation of all three areas of anorectal disease. MRI is an effective tool in delineating anatomy and, when correlating with the specific clinical scenario,is an effective adjunct in clinical decision-making in order to optimize outcome. MRI continues to be a promising and novel approach to imaging various afflictions of the anorectum and the pelvic floor. Its role is more wellestablished in some areas than in others, and there are still significant limitations. As technology advances, MRI will shed more light on a complex anatomical area.

  6. Combined spinal intramedullary arteriovenous malformation and lipomyelomeningocele

    Energy Technology Data Exchange (ETDEWEB)

    Weon, Y.C.; Roh, H.G.; Byun, H.S. [Samsung Medical Center, Sungkyunkwan University School of Medicine, Department of Radiology, Seoul (Korea); Chung, J.I. [Medimoa Hospital, Department of Radiology, Seoul (Korea); Eoh, W. [Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea)

    2005-10-01

    Combined spinal arteriovenous malformation and lipomyelomeningocele are extremely rare. We present a rare combined case of a lipomyelomeningocele with an intramedullary arteriovenous malformation (AVM) occurred at the L3-L4 level in a 30-year-old man who suffered from low back pain radiating to the lower extremities, dysuria, and frequency for 5 years. The MR studies showed an intradural mass with high-signal intensity on both T1-weighted and T2-weighted images, intermingled with multiple signal-void structures. The mass extended extradurally toward a subcutaneously forming fatty mass on the patient's back. Spinal angiography showed an AVM supplied by the radiculopial branches of the lumbar arteries and drained by tortuous, dilated, perimedullary veins. Endovascular embolization and surgical resection were performed. (orig.)

  7. Radiological features of childhood giant cavernous malformations

    Energy Technology Data Exchange (ETDEWEB)

    Ozgen, Burce; Senocak, Efsun; Oguz, Kader K. [Hacettepe University, Department of Radiology, Faculty of Medicine, Ankara (Turkey); Soylemezoglu, Figen [Hacettepe University, Department of Pathology, School of Medicine, Ankara (Turkey); Akalan, Nejat [Hacettepe University, Department of Neurosurgery, School of Medicine, Ankara (Turkey)

    2011-04-15

    Giant cavernous malformations (GCM) are very large, low-flow vascular malformations, which usually have atypical imaging features and are commonly misdiagnosed preoperatively as neoplasms or vascular malformations. These lesions have mostly been reported in children. As cavernomas show different features in children compared to adults, we evaluated the imaging features of pediatric GCMs in order to help in the preoperative diagnosis of these malformations. Brain MR studies of nine children (mean age of 4 years; 8 months-9 years) with biopsy-proven GCM were retrospectively evaluated. We defined GCMs as cavernomas of {>=}4 cm. Lesions were evaluated regarding their size, location, signal characteristics, general appearance (uni/multilocular) as well as regarding the presence of mass effect, edema, and fluid-fluid levels and were classified according to the Mottolese classification of pediatric cavernomas. Lesion locations were parietal (n = 5), frontal (n = 2), temporal, and intraventricular. Seven lesions were in the periventricular region (with five in the periatrial region). Six patients had T1 hyperintense multilobulated lesions with ''bubbles of blood'' appearance and three patients had heterogeneous lesions with reticular core. All lesions had mass effect, edema (marked in four cases), and peripheral hemosiderin rim. Fluid-fluid levels were also common (n = 7). Most of our lesions (six of nine) were classified as type IIIA, two as type IIIC, and one as type IA. In children, a GCM should be considered in case of very large hemorrhagic intra-axial mass with ''bubbles of blood'' multicystic appearance, surrounding hemosiderin ring, fluid-fluid levels, and accompanying edema-mass effect, especially in the periatrial location. (orig.)

  8. Differences in Radiation Dosimetry and Anorectal Function Testing Imply That Anorectal Symptoms May Arise From Different Anatomic Substrates

    International Nuclear Information System (INIS)

    Smeenk, Robert Jan; Hopman, Wim P.M.; Hoffmann, Aswin L.; Lin, Emile N.J.Th. van; Kaanders, Johannes H.A.M.

    2012-01-01

    Purpose: To explore the influence of functional changes and dosimetric parameters on specific incontinence-related anorectal complaints after prostate external beam radiotherapy and to estimate dose–effect relations for the anal wall and rectal wall. Methods and Materials: Sixty patients, irradiated for localized prostate cancer, underwent anorectal manometry and barostat measurements to evaluate anal pressures, rectal capacity, and rectal sensory functions. In addition, 30 untreated men were analyzed as a control group. In 36 irradiated patients, the anal wall and rectal wall were retrospectively delineated on planning computed tomography scans, and dosimetric parameters were retrieved from the treatment plans. Functional and dosimetric parameters were compared between patients with and without complaints, focusing on urgency, incontinence, and frequency. Results: After external beam radiotherapy, reduced anal pressures and tolerated rectal volumes were observed, irrespective of complaints. Patients with urgency and/or incontinence showed significantly lower anal resting pressures (mean 38 and 39 vs. 49 and 50 mm Hg) and lower tolerated rectal pressures (mean 28 and 28 vs. 33 and 34 mm Hg), compared to patients without these complaints. In patients with frequency, almost all rectal parameters were reduced. Several dosimetric parameters to the anal wall and rectal wall were predictive for urgency (e.g., anal D mean >38Gy), whereas some anal wall parameters correlated to incontinence and no dose–effect relation for frequency was found. Conclusions: Anorectal function deteriorates after external beam radiotherapy. Different incontinence-related complaints show specific anorectal dysfunctions, suggesting different anatomic and pathophysiologic substrates: urgency and incontinence seem to originate from both anal wall and rectal wall, whereas frequency seems associated with rectal wall dysfunction. Also, dose–effect relations differed between these complaints

  9. [Neonatal tumours and congenital malformations].

    Science.gov (United States)

    Berbel Tornero, O; Ortega García, J A; Ferrís i Tortajada, J; García Castell, J; Donat i Colomer, J; Soldin, O P; Fuster Soler, J L

    2008-06-01

    The association between pediatric cancer and congenital abnormalities is well known but, there is no exclusive data on the neonatal period and the underlying etiopathogenic mechanisms are unknown. First, to analyze the frequency of neonatal tumours associated with congenital abnormalities; and second, to comment on the likely etiopathogenic hypotheses of a relationship between neonatal tumours and congenital abnormalities. Historical series of neonatal tumours from La Fe University Children's Hospital in Valencia (Spain), from January 1990 to December 1999. Histological varieties of neonatal tumours and associated congenital abnormalities were described. A systematic review of the last 25 years was carried out using Medline, Cancerlit, Index Citation Science and Embase. The search profile used was the combination of "neonatal/congenital-tumors/cancer/neoplasms" and "congenital malformations/birth defects". 72 neonatal tumours were identified (2.8% of all pediatric cancers diagnosed in our hospital) and in 15 cases (20.8%) there was some associated malformation, disease or syndrome. The association between congenital abnormalities and neonatal tumours were: a) angiomas in three patients: two patients with congenital heart disease with a choanal stenosis, laryngomalacia; b) neuroblastomas in two patients: horseshoe kidney with vertebral anomalies and other with congenital heart disease; c) teratomas in two patients: one with cleft palate with vertebral anomalies and other with metatarsal varus; d) one tumour of the central nervous system with Bochdaleck hernia; e) heart tumours in four patients with tuberous sclerosis; f) acute leukaemia in one patient with Down syndrome and congenital heart disease; g) kidney tumour in one case with triventricular hydrocephaly, and h) adrenocortical tumour: hemihypertrophy. The publications included the tumours diagnosed in different pediatric periods and without unified criteria to classify the congenital abnormalities. Little data

  10. The Chiari III malformation: an unusual and asymptomatic variant in an 11-year old child

    International Nuclear Information System (INIS)

    Sirikci, Akif; Bayazit, Yildirim A.; Bayram, Metin

    2001-01-01

    Chiari III malformation is an extremely rare condition, and is characterized by the hindbrain herniation into a low occipital or high cervical encephalocele together with the pathologic and imaging features of the Chiari II malformation. In this report, an unusual variant of the Chiari III malformation was diagnosed in an 11-year-old girl. She had an encephalocele operation when she was a newborn, and has been asymptomatic since then. The clinical and imaging findings of this case were presented

  11. The Chiari III malformation: an unusual and asymptomatic variant in an 11-year old child

    Energy Technology Data Exchange (ETDEWEB)

    Sirikci, Akif E-mail: sirikci@yahoo.com; Bayazit, Yildirim A.; Bayram, Metin

    2001-09-01

    Chiari III malformation is an extremely rare condition, and is characterized by the hindbrain herniation into a low occipital or high cervical encephalocele together with the pathologic and imaging features of the Chiari II malformation. In this report, an unusual variant of the Chiari III malformation was diagnosed in an 11-year-old girl. She had an encephalocele operation when she was a newborn, and has been asymptomatic since then. The clinical and imaging findings of this case were presented.

  12. Surgical Treatment for a Complex Congenital Arteriovenous Malformation of the Lower Limb

    OpenAIRE

    Ozcan, Ali Vefa; Boysan, Emre; Isikli, Osman Yasar; Goksin, Ibrahim

    2013-01-01

    Arteriovenous fistula is defined as an abnormal communication between the arterial and venous systems. The complexity of congenital arteriovenous malformations makes treatment challenging. We present the case of a 23-year-old woman who had a complex congenital arteriovenous malformation in her left leg and a history of 2 unsuccessful coil-embolization procedures. We ligated all the feeding arteries of the arteriovenous malformation in the region of the superficial femoral artery, and the surg...

  13. Imaging of cardiovascular malformations in Williams syndrome

    International Nuclear Information System (INIS)

    Li Shiguo; Zhao Shihua; Jiang Shiliang; Huang Lianjun; Xu Zhongying; Ling Jian; Zheng Hong; Yan Chaowu; Lu Jinguo

    2008-01-01

    Objective: To evaluate the imaging methods for cardiovascular malformations in Williams syndrome(WS). Methods: Thirteen cases of WS (7 males and 6 females) aged 10 months to 13 years were involved in this study. All patients underwent chest X-ray radiography, electrocardiography, echocardiography and physical examination. 3 cases underwent electronic beam computed tomography (EBCT), cardiac catheterization and angiography were performed in 8 cases. Results: Twelve patients were referred to our hospital for cardiac murmur and 1 case for cyanosis after birth. 7 patients were found with 'elfin-like' facial features, 6 patients with pulmonary arterial stenosis, 2 cases with patent ductus arteriosus, 2 cases with severe pulmonary hypertension and 1 case with total endocardial cushion defect. Sudden death occurred in 2 patients during and after catheterization, respectively. Conclusions: Conventional angiography is the golden standard for the diagnosis of cardiovascular malformations in WS. Noninvasive methods such as MSCT and MRI should be suggested because of the risk of sudden death in conventional angiography. (authors)

  14. Imaging of the cloacal malformation

    International Nuclear Information System (INIS)

    Jaramillo, D.; Lebowitz, R.L.; Hendren, W.H.

    1989-01-01

    Sixty-two newborns with the cloacal malformation were evaluated to define variation in cloacal configuration, associated anomalies, and optimal approach to imaging. Cloacal malformations were classified according to level of urethrovaginal confluence (47 low, 15 high); level of rectal communication (47 vaginal, seven cloacal, eight other); and cloacal appearance (34 urethral, 28 vaginal, 10 transistional). Lower urinary abnormalities included reflux, ureteral ectopia, bladder diverticula, bladder duplication (five), and urachal remnants (five). Uterovaginal abnormalities included duplication and partial agenesis. Anomalies were common in the upper urinary tract, spine (sacral agenesis, 20), and bony pelvis (pubic diastasis, 10). Gastrointestinal, cardiovascular, neurologic, and limb (seven) malformations were seen. Fluoroscopically monitored opacification of the cloacal components and voiding cystourethrogram were essential. Although sonography of the malformation was of limited usefulness, MR imaging seemed to be useful for evaluation of the spinal cord and pelvic musculature

  15. Update on neuroimaging phenotypes of mid-hindbrain malformations

    Energy Technology Data Exchange (ETDEWEB)

    Jissendi-Tchofo, Patrice [University Hospital of Lille (CHRU), Department of Neuroradiology, MRI 3T Research, Plateforme Imagerie du vivant, IMPRT-IFR 114, Lille-Cedex (France); CHU Saint-Pierre, Radiology Department, Pediatric Neuroradiology Section, Brussels (Belgium); Severino, Mariasavina [Istituto Giannina Gaslini, Neuroradiology Unit, Genoa (Italy); Nguema-Edzang, Beatrice; Toure, Cisse; Soto Ares, Gustavo [University Hospital of Lille (CHRU), Department of Neuroradiology, MRI 3T Research, Plateforme Imagerie du vivant, IMPRT-IFR 114, Lille-Cedex (France); Barkovich, Anthony James [University of California, Neuroradiology Section, Department of Radiology and Biomedical Imaging, San Francisco, CA (United States)

    2014-10-23

    Neuroimaging techniques including structural magnetic resonance imaging (MRI) and functional positron emission tomography (PET) are useful in categorizing various midbrain-hindbrain (MHB) malformations, both in allowing diagnosis and in helping to understand the developmental processes that were disturbed. Brain imaging phenotypes of numerous malformations are characteristic features that help in guiding the genetic testing in case of direct neuroimaging-genotype correlation or, at least, to differentiate among MHB malformations entities. The present review aims to provide the reader with an update of the use of neuroimaging applications in the fine analysis of MHB malformations, using a comprehensive, recently proposed developmental and genetic classification. We have performed an extensive systematic review of the literature, from the embryology main steps of MHB development through the malformations entities, with regard to their molecular and genetic basis, conventional MRI features, and other neuroimaging characteristics. We discuss disorders in which imaging features are distinctive and how these features reflect the structural and functional impairment of the brain. Recognition of specific MRI phenotypes, including advanced imaging features, is useful to recognize the MHB malformation entities, to suggest genetic investigations, and, eventually, to monitor the disease outcome after supportive therapies. (orig.)

  16. Facial vascular malformations in children

    International Nuclear Information System (INIS)

    Brunelle, F.O.; Lallemand, D.; Chaumont, P.; Teillac, D.; Manach, Y.

    1988-01-01

    The authors present their experience with conventional and digital angiography of vascular malformations of the head and neck in children. 22 hemangioendotheliomas, 8 venous angiomas, and 3 arteriovenous fistula were studied. 22 patients were embolised. DSA offers many advantages during the diagnostic as well as during the therapeutic phase of angiography. Embolization appears to have a major role in treatment of such vascular malformations. (orig.)

  17. Abortion, premature delivery, stillborn, and malformations

    International Nuclear Information System (INIS)

    Sato, Yukio

    1992-01-01

    Since A-bomb disaster in Hiroshima and Nagasaki, genetic effects of A-bomb radiation have been investigated in the offspring of A-bomb survivors. This paper outlines the results of the previous studies in the context of the historical backgrounds. An earlier survey using a cohort of 71,280 children of Hiroshima and Nagasaki A-bomb survivors and a suitable control population of non-exposed 55,870 persons have dealt with the stillborn, neonate death, 9-month-old infant death, malformations at birth and 9 months after birth, and sex ratio in F 1 offspring; it was found that there was no significant difference in these items between the exposed and non-exposed groups. The other survey using fetal and neonatal autopsy cases has revealed that the incidence of malformations was significantly higher in children born to A-bomb survivors than those of the control population (18.5% vs 11.0%); however, there was no evidence of genetic abnormalities specific to the group of A-bomb survivors. Until now, no definitive conclusions of the sex ratio at birth have been drawn. Regarding height in F 1 offspring, no significant difference existed between the exposed and non-exposed groups. Nor was there significant difference in malformations in F 1 and F 2 offspring between the group of A-bomb survivors and the suitable control group. (N.K.)

  18. Bilateral perisylvian syndrome not related to malformations: report of two cases Sindrome peri-silviana bilateral não relacionada a malformações: relato de dois casos

    Directory of Open Access Journals (Sweden)

    Ralf Paulo Grasel

    1996-06-01

    Full Text Available In this case report we present the neuroimaging findings and clinical features of two patients with a bilateral perisylvian syndrome not related to malformations, but probably to ischemic etiology. Evaluations including history, general and neurologic examinations, electroencephalograms, and imaging data were reviewed as recent literature about the subject.Neste relato de caso, apresentamos os achados de neuroimagem e os aspectos clínicos de dois pacientes com síndrome peri-silviana bilateral não relacionada a malformações, mas provavelmente a uma etiologia isquêmica. Avaliações, incluindo história, exames físico e neurológico, eletrencefalograma e aspectos de imagem foram revistos, assim como a literatura recente sobre o assunto.

  19. Perioperative management of a patient with Dandy Walker malformation with tetralogy of Fallot undergoing total correction and fresh homologous pericardial pulmonary valve conduit implantation: Report of a rare case

    Directory of Open Access Journals (Sweden)

    Vishnu Datt

    2015-01-01

    Full Text Available Perioperative management of a patient with Dandy-Walker malformation (DWM with tetralogy of Fallot (TOF, patent ductus arteriosus, and pulmonary artery stenosis is a great challenge to the anesthesiologist. Anesthetic management in such patients can trigger tet spells that might rapidly increase intracranial pressure (ICP, conning and even death. The increase in ICP can precipitate tet spells and further brain hypoxia. To avoid an increase in ICP during TOF corrective surgery ventriculo-peritoneal (VP shunt should be performed before cardiac surgery. We present the first case report of a 11-month-old male baby afflicted with DWM and TOF who underwent successful TOF total corrective surgery and fresh autologous pericardial pulmonary valve conduit implantation under cardiopulmonary bypass after 1 week of VP shunt insertion.

  20. NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

    Science.gov (United States)

    Shi, Hongjun; Enriquez, Annabelle; Rapadas, Melissa; Martin, Ella M M A; Wang, Roni; Moreau, Julie; Lim, Chai K; Szot, Justin O; Ip, Eddie; Hughes, James N; Sugimoto, Kotaro; Humphreys, David T; McInerney-Leo, Aideen M; Leo, Paul J; Maghzal, Ghassan J; Halliday, Jake; Smith, Janine; Colley, Alison; Mark, Paul R; Collins, Felicity; Sillence, David O; Winlaw, David S; Ho, Joshua W K; Guillemin, Gilles J; Brown, Matthew A; Kikuchi, Kazu; Thomas, Paul Q; Stocker, Roland; Giannoulatou, Eleni; Chapman, Gavin; Duncan, Emma L; Sparrow, Duncan B; Dunwoodie, Sally L

    2017-08-10

    Congenital malformations can be manifested as combinations of phenotypes that co-occur more often than expected by chance. In many such cases, it has proved difficult to identify a genetic cause. We sought the genetic cause of cardiac, vertebral, and renal defects, among others, in unrelated patients. We used genomic sequencing to identify potentially pathogenic gene variants in families in which a person had multiple congenital malformations. We tested the function of the variant by using assays of in vitro enzyme activity and by quantifying metabolites in patient plasma. We engineered mouse models with similar variants using the CRISPR (clustered regularly interspaced short palindromic repeats)-Cas9 system. Variants were identified in two genes that encode enzymes of the kynurenine pathway, 3-hydroxyanthranilic acid 3,4-dioxygenase (HAAO) and kynureninase (KYNU). Three patients carried homozygous variants predicting loss-of-function changes in the HAAO or KYNU proteins (HAAO p.D162*, HAAO p.W186*, or KYNU p.V57Efs*21). Another patient carried heterozygous KYNU variants (p.Y156* and p.F349Kfs*4). The mutant enzymes had greatly reduced activity in vitro. Nicotinamide adenine dinucleotide (NAD) is synthesized de novo from tryptophan through the kynurenine pathway. The patients had reduced levels of circulating NAD. Defects similar to those in the patients developed in the embryos of Haao-null or Kynu-null mice owing to NAD deficiency. In null mice, the prevention of NAD deficiency during gestation averted defects. Disruption of NAD synthesis caused a deficiency of NAD and congenital malformations in humans and mice. Niacin supplementation during gestation prevented the malformations in mice. (Funded by the National Health and Medical Research Council of Australia and others.).

  1. Congenital ossicular malformation. A study of 27 ears

    International Nuclear Information System (INIS)

    Morioka, Shigefumi; Sakaguchi, Hirofumi; Taki, Masakatsu; Hyogo, Misako; Suzuki, Toshihiro; Hisa, Yasuo

    2010-01-01

    Despite otological surgerical progress improving clinical congenital ossicular malformation management, some cases remain inadequately treated. We report 27 cases of congenital ossicular malformation, focusing on reasons for remaining or delayed postoperative hearing loss evaluated in 27 congenital ossicular malformation cases in Kyoto Prefecture from 2002 to 2008. Overall success was 93% (25/27) 6 months postoperatively. Two ears had no hearing improvement and three delayed hearing loss 8 to 48 months postoperatively. The first two ears underwent small fenestration stapedotomy with malleus attachment piston, and the other three tympanoplasty type III using an autologous ossicle or total ossicular replacement prosthesis (TORP) as a columella. We discuss problems and solutions using a malleus attachment piston or prosthesis, preoperative audio- and radiological findings, and operative findings including facial nerve anomaly and congenital cholesteatoma. (author)

  2. Maxillo-nasal dysplasia (Binder syndrome) and associated malformations of the cervical spine

    Energy Technology Data Exchange (ETDEWEB)

    Olow-Nordenram, M.A.K.; Raadberg, C.T.

    1984-01-01

    Forty-three patients with maxillo-nasal dysplasia have been subjected to a radiographic examination of the cervical spine. In 44.2 per cent malformations of the cervical vertebrae of a minor or major type were revealed. Dysplasia of the vertebral bodies related to persistence of the chorda dorsalis, a very rare malformation, was found in six cases. No correlation between the incidence or serverity of the malformations and the degree of malocclusion of the jaws and facial deformity, characteristic of Binder syndrome, were noted. The maxillo-nasal dysplasia and the spinal malformations probably have a common cause during the embryologic stage.

  3. Antenatal hemorrhage of a cervical lymphatic malformation presenting as a draining neck mass: An unusual presentation.

    Science.gov (United States)

    Haricharan, R N; Nawaz, M; Bettolli, M; Ferretti, E

    2014-01-01

    Lymphatic malformations in the neck can present as large fetal neck masses causing airway obstructions with potential perinatal demise and can pose a therapeutic challenge. We present a rare case of prenatally diagnosed large fetal neck mass with features of lymphatic malformation with intralesional hemorrhage of uncertain origin. Postnatal evaluation showed a complex cystic-solid lesion eroding through the skin with an open wound that made it clinically hard to differentiate from a teratoma. Given that malignancy could not be completely ruled out, surgery was favored. Final pathology showed a complex lymphatic malformation with intralesional hemorrhage, despite having no associated capillary, venous or arterial malformations.

  4. Maxillo-nasal dysplasia (Binder syndrome) and associated malformations of the cervical spine

    International Nuclear Information System (INIS)

    Olow-Nordenram, M.A.K.; Raadberg, C.T.

    1984-01-01

    Forty-three patients with maxillo-nasal dysplasia have been subjected to a radiographic examination of the cervical spine. In 44.2 per cent malformations of the cervical vertebrae of a minor or major type were revealed. Dysplasia of the vertebral bodies related to persistence of the chorda dorsalis, a very rare malformation, was found in six cases. No correlation between the incidence or serverity of the malformations and the degree of malocclusion of the jaws and facial deformity, characteristic of Binder syndrome, were noted. The maxillo-nasal dysplasia and the spinal malformations probably have a common cause during the embryologic stage. (orig.)

  5. Anorectal Lymphogranuloma Venereum in Madrid: A Persistent Emerging Problem in Men Who Have Sex With Men.

    Science.gov (United States)

    Cabello Úbeda, Alfonso; Fernández Roblas, Ricardo; García Delgado, Rosa; Martínez García, Laura; Sterlin, Fabiola; Fernández Guerrero, Manuel L; Górgolas, Miguel

    2016-07-01

    Since 2003, outbreaks of lymphogranuloma venereum (LGV) with anorectal syndrome have been increasingly recognized in many Western countries. All of them have been classified as LGV serovar L2b, mainly occurring in human immunodeficiency virus (HIV)-infected men who have had sex with men (MSM). We describe a series of 26 diagnosed cases of LGV proctitis in downtown Madrid, Spain, in 2014, after implementing routine diagnostic procedures for this disease in symptomatic MSM. We conducted an observational study of patients with symptomatic proctitis attending an outpatient infectious diseases clinic in Madrid, Spain during calendar year 2014. Clinical, epidemiological, laboratory, and therapeutic data were gathered and analyzed. Twenty-six patients were included in the analysis. All were MSM, and 24 of them were HIV-positive. All patients reported having acute proctitis symptoms including tenesmus (85%), pain (88%), constipation (62%), or anal discharge (96%). Proctoscopy showed mucopurulent exudate (25 patients [96%]), and rectal bleeding, with mucosal erythema and/or oedema in all cases. Rectal swabs were obtained from all patients, and LGV serovar L2 was confirmed in all of them. The cure rate was 100% after standard treatments with doxycycline 100 mg twice per day for 3 weeks. Simultaneous rectal infections with other sexually transmitted pathogens (gonorrhoea, herpes simplex virus, Mycoplasma genitalium) and systemic sexually transmitted diseases (STDs) (syphilis, acute HIV, and hepatitis C infections) were also documented in 12 patients (46%), but these co-infections did not appear to influence the clinical manifestations of LGV. Anorectal LGV is a common cause of acute proctitis and proctocolitis among HIV-infected MSM who practice unprotected anal sex, and it is frequently associated with other rectal STDs. The implementation of routine screening and prompt diagnosis of these rectal infections should be mandatory in all clinical settings attended by HIV and STD

  6. STUDY OF OUTCOME AND COMPLICATIONS OF ANORECTAL MYECTOMY IN CHILDREN WITH ULTRASHORT SEGMENT HIRSCHSPRUNG’S DISEASE

    Directory of Open Access Journals (Sweden)

    J. Ahmadi

    2006-08-01

    Full Text Available The term ultra short is not clearly defined in ultrashort-segment Hirschsprung’s disease. The limited extent of the ultrashort-segment Hirschsprung’s disease allows for treatment with extended sphincteromyectomy. In anal sphincter achalasia, anal sphincter dilatation under general anesthesia may be sufficient to treat the condition; in cases with persistent constipation, sphincteromyectomy is indicated. Some investigators believe that the term ultrashort-segment Hirschsprung’s disease and anorectal achalasia are the same. Our study was performed to define the efficacy of transanal anorectal ‎myectomy and digital dilation under general anesthesia in children with ultra short-segment Hirschsprung’s disease and internal anal sphincter achalasia. A total of 87 patients were included in our study. Among these, 15 cases (17.24% were female and 72 (82.76% were male. In 12 patients (13.79%, the muscle strip had normal ganglion cells in both distal and proximal ends (group A. In 10 patients (11.49%, there was not any ganglion cell in both distal and proximal ends of muscle strip (group B. In 65 patients (74.71%, there were normal ganglion cells in proximal end with no ganglion cell in distal end of the muscle strip (group C. ‎There was no meaningful differences between group A, B and C in their outcome and partially or complete response to anorectal myectomy. We recommend the term “sluggish rectum” for these patients instead of ultrashort-segment Hirschsprung’s disease or internal anal sphincter achalasia that causes ambiguity in diagnosis and treatment of these cases.

  7. Videodefaecography combined with measurement of the anorectal angle and of perineal descent

    International Nuclear Information System (INIS)

    Skomorowska, E.; Henrichsen, S.; Christiansen, J.; Hegedues, V.; Glostrup Sygehus, Copenhagen

    1987-01-01

    Cineradiographic defaecography combined with measurement of the anorectal angle and descent of the pelvic floor is proposed. The method used in 73 women gave valuable information in 48 patients who complained of anal incompetence, rectal tenesmus, and chronic constipation. In these patients, high and low rectal intussusception, rectocele, and pathologic movement of the pelvic floor were detected. Some of these phenomena could only be diagnosed by the radiologic method here described. Quantitations of the anorectal angle and descent of the pelvic floor placed the group with constipation halfway between normal individuals and those with anal incompetence. The value of this finding is discussed. Recent improvements in anorectal surgery often make videodefaecography decisive for the choice of the optimal operative method. Therefore, videodefaecography together with measurement of the anorectal angle and pelvic floor descent is recommended whenever anorectal surgery for correction of functional disturbances is contemplated. (orig.)

  8. Chronic Encapsulated Expanding Thalamic Hematoma Associated with Obstructive Hydrocephalus following Radiosurgery for a Cerebral Arteriovenous Malformation: A Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Jun Takei

    2016-01-01

    Full Text Available Chronic encapsulated intracerebral hematoma is a unique type of intracerebral hematoma accompanied by a capsule that is abundant in fragile microvasculature occasionally causing delayed regrowth. A 37-year-old man who had undergone radiosurgery for an arteriovenous malformation (AVM causing intracerebral hematoma in the left parietal lobe presented with headache, vomiting, and progressive truncal ataxia due to a cystic lesion that had been noted in the left thalamus, leading to progressive obstructive hydrocephalus. He underwent left frontal craniotomy via a transsylvian fissure approach, and the serous hematoma was aspirated. The hematoma capsule was easy to drain and was partially removed. Pathological findings demonstrated angiomatous fibroblastic granulation tissue with extensive macrophage invasion. The concentration of vascular endothelial growth factor (VEGF was high in the hematoma (12012 pg/mL. The etiology and pathogenesis of encapsulated hematoma are unclear, but the gross appearance and pathological findings are similar to those of chronic subdural hematoma. Based on the high concentration of VEGF in the hematoma, expansion of the encapsulated hematoma might have been caused by the promotion of vascular permeability of newly formed microvasculature in the capsule.

  9. The music therapy of an anorectic mentally handicapped adult.

    Science.gov (United States)

    Heal, M; O'Hara, J

    1993-03-01

    Where words fail, music may be a medium through which to explore one's inner world and experiences. Psychodynamic approaches have helped us to understand what it means to be handicapped (e.g. Sinason, 1992). The subtleties of diagnosing anorexia nervosa have recently been recognized in this group (e.g. Cottrell & Crisp, 1984). Music therapy has been used with clients of normal intelligence who have eating disorders (Nolan, 1989; Sloboda, 1993; Smeijsters & van den Hurk 1993). This article illustrates the music therapy of a woman with Down's syndrome (IQ = 50) and anorexia nervosa. It describes her management and progress in music therapy in relation to her external world and anorectic behaviours.

  10. [Anorectal manifestations of sexually transmissible diseases. Kaposi's sarcoma].

    Science.gov (United States)

    Libeskind, M; Malbran, J; Agard, D; Pannetier, C; Lecouillard, C; Ivanovic, A

    1984-01-01

    The proctologist is above all concerned with the known recrudescence of venereal diseases. Examples reviewed are diseases of bacterial origin (syphilis, gonorrhea, soft chancre, donovanosis and chlamydiosis), appropriate antibiotic therapy and diseases of viral origin (herpes, condyloma acuminatum). Also noted are other bacterial, viral and parasitic diseases and, indeed, cancers of which Kaposi's sarcoma is the example, even though these are not manifested anorectally. New data on Kaposi's sarcoma, its' relationships with venereal disease and AIDS are presented. With these complex problems, the central role of male homosexuality and lowered cellular immunity widens considerably the professional scope of the proctologist.

  11. Features of Somatic and Reproductive Status of Women, who Gave Birth to a Child with Congenital Malformations, and Their Identifiсation Using «Case — Control» Method According to Data of Lviv Regional Clinical Perinatal Center in 2007–2009

    Directory of Open Access Journals (Sweden)

    Zborovska N.V. Zborovska N.V.

    2012-04-01

    While comparing a range of reproductive anamnesis indices there was noticed a higher percentage of dead children, stillbirths, anemia in pregnancy, gestosis in the first half of pregnancy, gestosis in the second half of pregnancy, abnormal labors in mothers who gave birth to a child with congenital malformations than in women of control group. According to ultrasound diagnosis congenital abnormalities in pregnancy were detected in 31.6 % of cases. There were diagnosed 4 cases of Arnold — Chiari syndrome (spina bifida and internal hydrocephalus; and 3 cases of each: hydrocephalus, gastroschisis, small intestinal atresia, and 2 cases of each: congenital malformations, hypoplastic left heart syndrome, Down’s syndrome, congenital diaphragmatic hernia, omphalocele, congenital rectal atresia, and 1 case of each: spina bifida, congenital absence of forearm and hand, left ventricular rabdomioma, encephalocele.

  12. The presentation and management of complex female genital malformations.

    Science.gov (United States)

    Acién, Pedro; Acién, Maribel

    2016-01-01

    Common uterine anomalies are important owing to their impact on fertility, and complex mesonephric anomalies and certain Müllerian malformations are particularly important because they cause serious clinical symptoms and affect woman's quality of life, in addition to creating fertility problems. In these cases of complex female genital tract malformations, a correct diagnosis is essential to avoid inappropriate and/or unnecessary surgery. Therefore, acquiring and applying the appropriate embryological knowledge, management and therapy is a challenge for gynaecologists. Here, we considered complex malformations to be obstructive anomalies and/or those associated with cloacal and urogenital sinus anomalies, urinary and/or extragenital anomalies, or other clinical implications or symptoms creating a difficult differential diagnosis. A diligent and comprehensive search of PubMed and Scopus was performed for all studies published from 1 January 2011 to 15 April 2015 (then updated up to September 2015) using the following search terms: 'management' in combination with either 'female genital malformations' or 'female genital tract anomalies' or 'Müllerian anomalies'. The MeSH terms 'renal agenesis', 'hydrocolpos', 'obstructed hemivagina' 'cervicovaginal agenesis or atresia', 'vaginal agenesis or atresia', 'Herlyn-Werner-Wunderlich syndrome', 'uterine duplication' and 'cloacal anomalies' were also used to compile a list of all publications containing these terms since 2011. The basic embryological considerations for understanding female genitourinary malformations were also revealed. Based on our experience and the updated literature review, we studied the definition and classification of the complex malformations, and we analysed the clinical presentation and different therapeutic strategies for each anomaly, including the embryological and clinical classification of female genitourinary malformations. From 755 search retrieved references, 230 articles were analysed and

  13. Congenital bronchopulmonary foregut malformation initially diagnosed as esophageal atresia type C: challenging diagnosis and treatment

    NARCIS (Netherlands)

    Boersma, Doeke; Koot, Bart G.; van der Griendt, Erik Jonas; van Rijn, Rick R.; van der Steeg, Alida F.

    2012-01-01

    Communicating bronchopulmonary foregut malformations are extremely rare congenital malformations, characterized by a communicating fistula between an isolated part of the respiratory system and the esophagus or the stomach. In this article, we present a case of esophageal atresia type C, later

  14. Congenital pulmonary airway malformation in a 36 year-old female

    OpenAIRE

    Barreiro, Timothy J.; Henn, Lucas; Ingnam, Sisham; Sypert, Michael

    2015-01-01

    Congenital pulmonary airway malformation (CPAM), previously known as congenital cystic adenomatoid malformation (CCAM), is an inborn abnormality of the lower respiratory system. Most often diagnosed in the perinatal period, these anomalies usually present with tachypnea, cyanosis, and respiratory distress. However, rare cases are asymptomatic and undiagnosed until adulthood.

  15. MRI findings of intracranial cavernous malformations

    International Nuclear Information System (INIS)

    Han, Byoung Hee; Kim, Dong Ik; Cho, Yong Kuk

    1995-01-01

    To analyze the variable MRI features and clinical significance of intracranial cavernous malformations. Forty patients(mean age 35.4) with cavernous malformation were evaluated by MRI. Eleven patients were surgically confirmed. Cavernous malformations were divided into four categories on the basis of the MR imaging characteristics, especially on T2-weighted image. Type I lesion was defined as an extralesional subacute hemorrhage outside the low signal rim, type II as an intralesional hemorrhage surrounded by low signal rim, type III lesion as an intralesional thrombosis with variegated central core surrounded by low signal rim, and type IV lesion as a focal old hemorrhagic core with small low signal intensity. Type IV was further divided into IVa and IVb, whether the lesion has small iso-or hypersignal central core (IVa) or not (IVb). Follow-up MRI was evaluated in 12 patients who were managed conservatively. Follow-up intervals ranged from 2 weeks to 29 months (mean 6 months). Total 80 lesions were detected in 40 patients. Multiple lesions were noted in 10 patients. The topography of the cavernous malformations was supratentorial in 75% and infratentorial in 23%. There were 10 lesions in type I, 15 in type II, 21 in type III, 14 in type IVa, and 20 in type IVb. Type I lesions mainly showed mass effect and edema. Type III lesions showed minimal contrast enhancements in 7 lesions on delayed images. Type II lesions showed the characteristics of both type I and type III lesions. On follow up images, decrease in size in 5, change of type in 7, rebleeding in 2 and no change in 12 lesions were demonstrated. Hemorrhage, edema and mass effect were combined in the cases of rebleeding. On follow-up study, the estimated risk of bleeding was 32.3%/person-year and 13.7%/lesion-year. Cavernous malformations show as variable appearance, on MR imaging suggesting variable stages of evolution. The MR morphologic classification and evaluation of secondary findings are helpful to

  16. Laser treatment of oral vascular malformations

    Science.gov (United States)

    Romeo, U.; Gaimari, G.; Mohsen, M.; Tenore, G.; Palaia, G.

    2014-01-01

    Oral Vascular Malformations (OVM) are congenital anomalies characterized by morph-structural and/or functional changes of nature in severity and extension. OVM can affect any type of vessels arterial, venous or lymphatic and any capillary or anatomical. They are divided into two categories: low and high flow. In this study were treated 40 patients with OVM with a range size from 2 mm to 44 mm; they were subjected to clinical examination supported by Colour-Doppler Ultrasound instrumental examination and only for doubt cases the Magnetic Resonance Imaging (MRI) was prescribed. Only low flow venous and capillary malformations were treated by GaAlAs laser (Wiser®, Lambda, Brindole,Italy, 980nm) and KTP laser (SmartLite®, DEKA, Florence, Italy, 532nm) with two different techniques: the Transmucosal Thermophotocoagulation (TMT) and the Intralesional Photocoagulation (ILP). These techniques permitted a good control of haemostasis, avoiding bleeding both during surgery and in the postoperative. It is obtained an excellent and good healing respectively in 10% and 60% of cases, a moderate and poor resolution respectively in 22.5% and 7.5% of cases. A clear diagnosis allowed the management of Venous malformations (VM) by laser devices with wavelengths highly absorbed in haemoglobin in safety and efficacy and according to the principles of minimal invasive surgery. The aim of this study was to verify if the laser is effective in the treatment of OVM for the purpose of the clinical findings and the postoperative course. The Authors concluded that the laser can be considered the "gold standard" for treating OVM.

  17. Ano-rectal lymphogranuloma venereum: the first case in Italy

    NARCIS (Netherlands)

    Cusini, M.; Boneschi, V.; Tanzi, C.; Girgenti, V.; de Vries, H. [=Henry J. C.; Alessi, E.

    2008-01-01

    Lymphogranuloma venereum (LGV) is a sexually transmitted infection endemic in Central Africa, South-East Asia and in some countries of Central and South America. In Italy LGV has been sporadically reported in patients coming from abroad. The etiological agent of LGV is Chlamydia trachomatis serovars

  18. [Management of occult malformations at the lateral skull base].

    Science.gov (United States)

    Bryson, E; Draf, W; Hofmann, E; Bockmühl, U

    2005-12-01

    Occult malformations of the lateral skull base are rare anomalies, but can cause severe complications such as recurrent meningitis. Therefore, they need to be precisely delineated and sufficient surgical closure is mandatory. Between 1986 and 2004 twenty patients (10 children and 10 adults) with occult malformations at the lateral skull base were treated surgically at the ENT-Department of the Hospital Fulda gAG. Of these 3 Mondini-malformations, 11 defects of the tegmen tympani or the mastoidal roof, 2 dural lesions to the posterior fossa and 4 malformations within the pyramidal apex have been found. Four patients have had multiple anomalies. Routing symptom was in all cases at least one previous meningitis. Radiological diagnostics included high-resolution computed tomography (CT) and magnetic resonance imaging (MRI) as well as CT- or MR-cisternography. Depending on type and localisation of the defect the following surgical algorithm was carried out: The trans-mastoidal approach was used in all cases of Mondini-malformation (including obliteration of the ear), in case of lesions to the posterior fossa as well as partly in anomalies at the tegmen tympani and mastoidal roof, respectively. Defects of the pyramidal apex should be explored via the trans-mastoidal way if the lesion is located caudally to the inner auditory canal (IAC), whereas the trans-temporal approach should be used if the lesion is situated ventral to the IAC and dorso-medially to the internal carotid artery (ICA). The trans-temporal approach was also performed in large defects of the tegmen tympani and mastoidal roof as well as in recurrences. In all cases of recurrent meningitis caused by agents of the upper airway tract the basic principle should be to search for occult skull base malformations radiologically as well as by sodium fluorescein endoscopy as long as the anomaly is detected.

  19. Murine Anorectic Response to Deoxynivalenol (Vomitoxin Is Sex-Dependent

    Directory of Open Access Journals (Sweden)

    Erica S. Clark

    2015-07-01

    Full Text Available Deoxynivalenol (DON, vomitoxin, a common trichothecene mycotoxin found in cereal foods, dysregulates immune function and maintenance of energy balance. The purpose of this study was to determine if sex differences are similarly evident in DON’s anorectic responses in mice. A bioassay for feed refusal, previously developed by our lab, was used to compare acute i.p. exposures of 1 and 5 mg/kg bw DON in C57BL6 mice. Greater anorectic responses were seen in male than female mice. Male mice had higher organ and plasma concentrations of DON upon acute exposure than their female counterparts. A significant increase in IL-6 plasma levels was also observed in males while cholecystokinin response was higher in females. When effects of sex on food intake and body weight changes were compared after subchronic dietary exposure to 1, 2.5, and 10 ppm DON, males were found again to be more sensitive. Demonstration of male predilection to DON-induced changes in food intake and weight gain might an important consideration in future risk assessment of DON and other trichothecenes.

  20. Anorectal motility abnormalities in children with encopresis and chronic constipation.

    Science.gov (United States)

    Raghunath, Neeraj; Glassman, Mark S; Halata, Michael S; Berezin, Stuart H; Stewart, Julian M; Medow, Marvin S

    2011-02-01

    To evaluate the response to rectal distension in children with chronic constipation and children with chronic constipation and encopresis. We studied 27 children, aged 3 to 16 years, with chronic constipation; 12 had encopresis. Anorectal motility was measured with a solid state catheter. When the catheter was located in the internal sphincter, the balloon was inflated to 60 mL with air. There were no differences in age, sex distribution, and duration of constipation in the two groups. Comparing groups, anorectal manometry showed no differences in the resting sphincter pressure, recovery pressure, the lowest relaxation pressure, and percent relaxation. However, time to maximum relaxation, time to recovery to baseline pressure, and duration of relaxation were significantly higher in patients with constipation and encopresis, compared with patients who had constipation alone. There may be an imbalance in neuromuscular control of defecation in constipated patients with encopresis that results in incontinence as a consequence of the increased time to recovery and duration of relaxation of the internal anal sphincter. Copyright © 2011 Mosby, Inc. All rights reserved.

  1. Radioactive needle implants in the treatment of anorectal cancer

    International Nuclear Information System (INIS)

    Price, A.; Kerr, G.R.; Arnott, S.J.

    1988-01-01

    Radioactive needle implants (Ra 226 , Cs 137 ) were used to treat 44 patients with inoperable anorectal cancer. An implant dose of 60 Gy or higher was administered to 27 patients at a mean dose rate of 0.493 Gy/h (SE ± 0.167 Gy/h). In five patients this was preceded by external beam irradiation. A further 17 patients received an implant dose of less than 60 Gy; this followed external irradiation in 10 patients. A complete response was achieved in 52% (16 out of 31) of patients assessed. Three of these patients later relapsed locally. The median duration of response was 23 months. A partial response of median duration 3 months was achieved by a further 13 patients. Five year actuarial survival was 23.9%. Serious morbidity occurred in six patients; three developed strictures and three necrosis. Features of the tumour and the treatment technique contributing to successful management are discussed. It is suggested that radioactive needle implants have an important part to play in the management of low-lying inoperable anorectal cancers. (author)

  2. A novel malformation complex of bilateral and symmetric preaxial radial ray-thumb aplasia and lower limb defects with minimal facial dysmorphic features: a case report and literature review

    OpenAIRE

    Al Kaissi, Ali; Klaushofer, Klaus; Krebs, Alexander; Grill, Franz

    2008-01-01

    Introduction Radial hemimelia is a congenital abnormality characterised by the partial or complete absence of the radius. The longitudinal hemimelia indicates the absence of one or more bones along the preaxial (medial) or postaxial (lateral) side of the limb. Preaxial limb defects occurred more frequently with a combination of microtia, esophageal atresia, anorectal atresia, heart defects, unilateral kidney dysgenesis, and some axial skeletal defects. Postaxial acrofacial dysostoses are char...

  3. Pediatric central nervous system vascular malformations

    International Nuclear Information System (INIS)

    Burch, Ezra A.; Orbach, Darren B.

    2015-01-01

    Pediatric central nervous system (CNS) vascular anomalies include lesions found only in the pediatric population and also the full gamut of vascular lesions found in adults. Pediatric-specific lesions discussed here include infantile hemangioma, vein of Galen malformation and dural sinus malformation. Some CNS vascular lesions that occur in adults, such as arteriovenous malformation, have somewhat distinct manifestations in children, and those are also discussed. Additionally, children with CNS vascular malformations often have associated broader vascular conditions, e.g., PHACES (posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies, eye anomalies and sternal anomalies), hereditary hemorrhagic telangiectasia, and capillary malformation-arteriovenous malformation syndrome (related to the RASA1 mutation). The treatment of pediatric CNS vascular malformations has greatly benefited from advances in endovascular therapy, including technical advances in adult interventional neuroradiology. Dramatic advances in therapy are expected to stem from increased understanding of the genetics and vascular biology that underlie pediatric CNS vascular malformations. (orig.)

  4. Pediatric central nervous system vascular malformations

    Energy Technology Data Exchange (ETDEWEB)

    Burch, Ezra A. [Brigham and Women' s Hospital, Department of Radiology, Boston, MA (United States); Orbach, Darren B. [Boston Children' s Hospital, Neurointerventional Radiology, Boston, MA (United States)

    2015-09-15

    Pediatric central nervous system (CNS) vascular anomalies include lesions found only in the pediatric population and also the full gamut of vascular lesions found in adults. Pediatric-specific lesions discussed here include infantile hemangioma, vein of Galen malformation and dural sinus malformation. Some CNS vascular lesions that occur in adults, such as arteriovenous malformation, have somewhat distinct manifestations in children, and those are also discussed. Additionally, children with CNS vascular malformations often have associated broader vascular conditions, e.g., PHACES (posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies, eye anomalies and sternal anomalies), hereditary hemorrhagic telangiectasia, and capillary malformation-arteriovenous malformation syndrome (related to the RASA1 mutation). The treatment of pediatric CNS vascular malformations has greatly benefited from advances in endovascular therapy, including technical advances in adult interventional neuroradiology. Dramatic advances in therapy are expected to stem from increased understanding of the genetics and vascular biology that underlie pediatric CNS vascular malformations. (orig.)

  5. [Epidemiological analysis of selected congenital limb malformations in Hengyang].

    Science.gov (United States)

    Li, Na-Na; Yuan, Yu-Mei; Liu, Yong; Dai, Li; Deng, Chang-Fei; Nie, Xing-Hui; Zheng, Xiang-Chi; Hu, Yan-Zhen; Liu, Yun-Rong

    2013-07-01

    To describe the epidemiological characteristics of selected congenital limb malformations (CLM) in newborns of Hengyang. During the period of 2008-2010, cluster sampling survey was adopted to investigate the congenital limb malformations of neonates born to women resident in Hengyang, including Nanyue District, Zhuhui District, Changning City and Hengshan County. Each newborn was examined for the screening of CLM after birth. Limb malformations were grouped into the isolated (ILM) and the syndromic (SLM) form, depending on associated malformations of the affected. Prevalence rates, CLM spectrum and clinical manifestations were analyzed. A total of 170 CLM cases were identified among 52,307 newborns during the study period, resulting overall rate of 32.50/10(4). The rates for isolated and syndromic CLM were 28.29 and 4.21 per 10 000 births respectively. The rates for polydactyly, congenital talipes equinovarus, syndactyly and limb reduction defects were 13.00/10(4), 9.56/10(4), 5.16/10(4) and 3.63/10(4), respectively. No significant difference in rates of overall CLM or specified CLM was observed across urban-rural, gender and maternal age groups. Of the cases affected by polydactyly, syndactyly and limb reduction defects, malformation involved upper limbs, lower limbs and the both accounted for 68.14%, 14.16% and 17.70%. Preterm birth, low birth-weight, still birth and neonatal death were observed more frequently in syndromic cases than in isolated patients. The high CLM prevalence rate and fatality rate in Hengyang suggest that effective measures should be taken to prevent malformations and to improve survival of the affected.

  6. RISK FACTORS IN CHILD CONGENITAL MALFORMATIONS

    OpenAIRE

    Alina-Costina LUCA; Mirabela SUBOTNICU

    2015-01-01

    Congenital heart malformations are among the most common congenital malformations. Congenital heart malformations occur due to genetic and environmental factors during embryonic morphogenesis period of the heart. About 25% of these malformations are severe, requiring intervention immediately after birth or in infancy. Abnormalities of structure and function of the heart and great vessels are the consequence of teratogenic factors occurring between day 19 and 45 of gestation. (Yagel et al...

  7. The role of MRI in suspected inner ear malformations

    International Nuclear Information System (INIS)

    Koesling, S.; Juettemann, S.; Amaya, B.; Rasinski, C.; Bloching, M.; Koenig, E.

    2003-01-01

    Purpose: This is a prospective analysis of the value of MRI in suspected inner ear malformations. Materials and Methods: In 50 patients (43 children and young adults, 7 adults) with suspected inner ear malformation MRI (1.5 T) was performed. In addition, 42 of these patients underwent CT. For the analysis of the inner ear structures, the constructive interference in steady state (CISS) sequence with 0.7 mm slice thickness was used. Functional tests revealed a sensorineural hearing loss or deafness in 82 temporal bones (TB) and a combined hearing loss in 4 TB. The hearing loss was unilateral in 14 patients. MRI and CT findings were compared. Results: Imaging findings were normal in 58 TB. The pathological findings included inner ear malformations (35 TB), inflammatory changes (4 TB), partial obliteration of labyrinth (2 TB) and congenital aural atresia (1 TB). An isolated absence of the cochlear nerve (1 TB) could only be found by MRI. In the remaining cases, an inner ear malformation was diagnosed by MRI and CT with the same confidence but MRI was superior in displaying the fine details. Conclusions: MRI will become the method of choice in the diagnosis of inner ear malformations. (orig.) [de

  8. [The genetic background for the eye malformations anophthalmia and microphthalmia].

    Science.gov (United States)

    Roos, Laura Sønderberg; Grønskov, Karen; Jensen, Hanne; Tümer, Zeynep

    2012-03-12

    Anophthalmia and microphthalmia (AO/MO) are rare congenital eye malformations, in which the eyeball is apparently absent or smaller than normal, which causes various degrees of visual impairment. Over 200 different AO/MO-related syndromes have been described, but the genetic background is unknown in many cases. The aim of this article is to give an overview of AO/MO, focusing on the genetic background. It is illustrated that the future identification of new AO/MO related genes will benefit in the genetic counseling of AO/MO patients, and in the understanding of eye development and congenital eye malformations.

  9. Berry syndrome in association with familial limb malformation.

    LENUS (Irish Health Repository)

    Shahdadpuri, R

    2012-02-01

    We describe a newborn boy diagnosed with Berry syndrome consisting of a distal aortopulmonary septal defect, aortic origin of the right pulmonary artery, and interruption of the aorta. The child was noted to have reduplication of the right thumb. The child\\'s mother had a claw malformation of her left hand but a normal cardiovascular status. Genetic analysis for TBX5 and SALL4 mutations were negative in both the patient and his mother. This case describes the first ever report of Berry syndrome in an infant with reduplication of the right thumb and familial limb malformation.

  10. Radiographic assessment of congenital malformations of the upper extremity

    International Nuclear Information System (INIS)

    Winfeld, Matthew J.; Otero, Hansel

    2016-01-01

    Congenital and developmental malformations of the upper extremity are uncommon and their diagnosis can challenge radiologists. Many complex classification systems exist, the latest of which accounts for the complex embryology and pathogenetic mechanisms that govern the formation of these anomalies. Using appropriate descriptors allows for more specific diagnosis and improved consultation with referring pediatricians and surgeons, helping to guide medical and surgical interventions and, if indicated, further investigation for associated abnormalities and underlying syndromes. We review the imaging characteristics of upper limb malformations to help pediatric radiologists better understand the classification and workup necessary in these cases. (orig.)

  11. Radiographic assessment of congenital malformations of the upper extremity

    Energy Technology Data Exchange (ETDEWEB)

    Winfeld, Matthew J. [Perelman School of Medicine at the University of Pennsylvania, Department of Radiology, Musculoskeletal Division, Penn Medicine University City, Philadelphia, PA (United States); Otero, Hansel [Children' s National Medical Center, Department of Radiology, Washington, DC (United States)

    2016-09-15

    Congenital and developmental malformations of the upper extremity are uncommon and their diagnosis can challenge radiologists. Many complex classification systems exist, the latest of which accounts for the complex embryology and pathogenetic mechanisms that govern the formation of these anomalies. Using appropriate descriptors allows for more specific diagnosis and improved consultation with referring pediatricians and surgeons, helping to guide medical and surgical interventions and, if indicated, further investigation for associated abnormalities and underlying syndromes. We review the imaging characteristics of upper limb malformations to help pediatric radiologists better understand the classification and workup necessary in these cases. (orig.)

  12. Hemifacial spasm in a patient with neurofibromatosis and Arnold-Chiari malformation: a unique case association Espasmo hemifacial em paciente com neurofibromatose e malformação de Arnold-Chiari: uma associação rara

    Directory of Open Access Journals (Sweden)

    Andre Carvalho Felício

    2007-09-01

    Full Text Available BACKGROUND: The association of hemifacial spasm (HFS, Chiari type I malformation (CIM and neurofibromatosis type 1 (NF1 has not been described yet. CASE REPORT: We report the case of a 31-year-old woman with NF1 who developed a right-sided HFS. On magnetic resonance imaging (MRI a CIM was seen without syringomyelia. The patient has been successfully treated with botulinum toxin type A injections for 5 years without major side effects. CONCLUSION:Clinical features of HFS, CMI and NF1 are highlighted together with their possible relationship. Also, therapeutic strategies are also discussed.INTRODUÇÃO: A associação entre espasmo hemifacial (EHF, malformação de Chiari tipo I (MCI e neurofibromatose tipo I (NFI ainda não foi descrita. RELATO DO CASO: Relatamos o caso de mulher com 31 anos com NFI que desenvolveu EHF à direita. Na ressonância magnética (RM foi observada MCI sem seringomielia associada. A paciente foi tratada com sucesso com toxina botulínica tipo A por 5 anos sem efeitos colaterais. CONCLUSÃO: Ressaltamos as características clínicas do EHF, MCI e NFI assim como uma possível relação entre elas. Além disto, discutimos também estratégias terapêuticas.

  13. Pulmonary sequestration with histologic changes of cystic adenomatoid malformation

    International Nuclear Information System (INIS)

    Morin, C.; Filiatrault, D.; Russo, P.

    1989-01-01

    Pulmonary sequestration and congenital cystic adenomatoid malformation (CCAM) are two infrequent congenital pulmonary diseases. The combination of these two entities is rare. We report a case where the antenatal ultrasonography showed a left pulmonary mass suggesting CCAM. The US done after birth revealed an aberrant vascularisation. Pathologic examination confirmed the association of both lesions. (orig.)

  14. Chronic intestinal bleeding caused by congenital arteriovenous malformations

    NARCIS (Netherlands)

    Haringsma, J.; Tytgat, G. N.

    1988-01-01

    A case of vascular malformation over the entire length of the colon and small intestine in a 41-year-old male with an almost life-long history of gastrointestinal hemorrhage, is presented. The patient's history, in connection with the findings at colonoscopy and surgery, was highly suggestive of

  15. Echotomography in the study of the uropathologic malformation in children

    Energy Technology Data Exchange (ETDEWEB)

    Accarino, B; Salvi, V; Maioli, A; Del Vecchio, E

    1985-01-01

    The authors report on the usefulness of ultrasound in the study of uropathology malformations in children. They analize some caracteristic ecotomographic patterns of this pathology and emphasize validity and usefulness of the technique in diagnosis and the follow-up of these cases. 31 refs.

  16. Congenital Pulmonary Malformation in Children

    Directory of Open Access Journals (Sweden)

    Montasser Nadeem

    2012-01-01

    Full Text Available Congenital Pulmonary Malformations (CPMs are a group of rare lung abnormalities affecting the airways, parenchyma, and vasculature. They represent a spectrum of abnormal development rather than discrete pathological entities. They are caused by aberrant embryological lung development which occurs at different stages of intrauterine life.

  17. Congenital Pulmonary Malformation in Children

    OpenAIRE

    Nadeem, Montasser; Elnazir, Basil; Greally, Peter

    2012-01-01

    Congenital Pulmonary Malformations (CPMs) are a group of rare lung abnormalities affecting the airways, parenchyma, and vasculature. They represent a spectrum of abnormal development rather than discrete pathological entities. They are caused by aberrant embryological lung development which occurs at different stages of intrauterine life.

  18. Contemporary Management of Pulmonary Arteriovenous Malformations.

    Science.gov (United States)

    Rauh, Nicholas; Gurley, John; Saha, Sibu

    2017-12-01

    Pulmonary arteriovenous malformations (PAVMs) are atypical vascular structures involving a direct connection between the pulmonary arterial and venous circulations. While PAVMs are a relatively uncommon disorder, unmanaged cases are at risk for the development of serious complications including embolization and infection. Since their first description in 1897, PAVMs have been identified and treated in a variety of ways. Advancements in diagnostic methods and operative techniques have allowed for more effective treatment of the disease. Most recently, the use of vascular plug transcatheter embolization has been described as an effective therapeutic procedure in the management of PAVMs. In this report, we present our experience with nine cases of PAVMs treated at the University of Kentucky, including special consideration of an exemplary case that illustrates the typical course of treatment for the disease.

  19. Transrectal ultrasonography of anorectal disease: advantages and disadvantages

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Min Ju [Dept. of Radiology, Korea University Anam Hospital, Korea University College of Medicine, Seoul (Korea, Republic of)

    2015-01-15

    Transrectal ultrasonography (TRUS) has been widely accepted as a popular imaging modality for Epub ahead of print evaluating the lower rectum, anal sphincters, and pelvic floor in patients with various anorectal diseases. It provides excellent visualization of the layers of the rectal wall and of the anatomy of the anal canal. TRUS is an accurate tool for the staging of primary rectal cancer, especially for early stages. Although magnetic resonance imaging is a modality complementary to TRUS with advantages for evaluating the mesorectum, external sphincter, and deep pelvic inflammation, three-dimensional ultrasonography improves the detection and characterization of perianal fistulas and therefore plays a crucial role in optimal treatment planning. The operator should be familiar with the anatomy of the rectum and pelvic structures relevant to the preoperative evaluation of rectal cancer and other anal canal diseases, and should have technical proficiency in the use of TRUS combined with an awareness of its limitations compared to magnetic resonance imaging.

  20. Classification and Current Management of Inner Ear Malformations

    Directory of Open Access Journals (Sweden)

    Levent Sennaroğlu

    2017-10-01

    Full Text Available Morphologically congenital sensorineural hearing loss can be investigated under two categories. Majority of the congenital hearing loss (80% are membranous malformations. Here the pathology involves inner ear hair cells. There is no gross bony abnormality and therefore, in these cases, high resolution computerized tomography and MRI of the temporal bone reveal normal findings. Remaining 20% have various malformations involving the bony labyrinth and therefore, can be radiologically demonstrated by CT and MRI. The latter group involves surgical challenges as well as problems in decision making. Some cases may be managed by hearing aid, some need cochlear implantation while some cases are candidates for an auditory brainstem implantation. During cochlear implantation, there may be facial nerve abnormalities, cerebrospinal fluid leakage, electrode misplacement or difficulty in finding the cochlea itself. During the surgery for inner ear malformations, surgeon must be ready to modify the surgical approach or choose special electrodes for surgery. In the present review article inner ear malformations are classified according to the differences observed in the cochlea. Hearing and language outcome after various implantation methods is closely related to the status of cochlear nerve and a practical classification of the cochlear nerve deficiency is also provided

  1. Three-dimensional spiral CT of craniofacial malformations in children

    International Nuclear Information System (INIS)

    Binaghi, S.; Gudinchet, F.

    2000-01-01

    Objective. To assess the value of three-dimensional CT (3D CT) in the diagnosis and management of suspected paediatric craniofacial malformations. Materials and methods. Twenty-eight children (12 girls, 16 boys) with a mean age of 4 years, suffering from craniofacial or cervical malformations, underwent craniofacial spiral CT. 3D reformatting was performed using an independent workstation. Results. 3D CT allowed the preoperative evaluation of 16 patients with craniosynostosis and the post-surgical management of 2 patients. 3D CT clearly depicted malformations of the skull base involving the petrous bone in seven patients (four cases of Goldenhar-Gorlin syndrome, one case of Treacher-Collins syndrome and two cases of Crouzon's disease). Four patients with craniofacial clefts were also evaluated. Radiological findings were confirmed by the clinical and intraoperative findings in all patients that underwent surgical treatment. Movement artefacts and ''Lego effect'' related to abrupt change of cranial vault border were encountered and are discussed. Conclusions. 3D CT of the skull can safely and reliably identify paediatric craniofacial malformations involving bone, and it should be used as morphological mapping to help the surgeon in planning surgical treatment. (orig.)

  2. The effect of hysterectomy on ano-rectal physiology.

    LENUS (Irish Health Repository)

    Kelly, J L

    2012-02-03

    Hysterectomy is associated with severe constipation in a subgroup of patients, and an adverse effect on colonic motility has been described in the literature. The onset of irritable bowel syndrome and urinary bladder dysfunction has also been reported after hysterectomy. In this prospective study, we investigated the effect of simple hysterectomy on ano-rectal physiology and bowel function. Thirty consecutive patients were assessed before and 16 weeks after operation. An abdominal hysterectomy was performed in 16 patients, and a vaginal procedure was performed in 14. The parameters measured included the mean resting, and maximal forced voluntary contraction anal pressures, the recto-anal inhibitory reflex, and rectal sensation to distension. In 8 patients, the terminal motor latency of the pudendal nerve was assessed bilaterally. Pre-operatively, 8 patients were constipated. This improved following hysterectomy in 4, worsened in 2, and was unchanged in 2. Symptomatology did not correlate with changes in manometry. Although, the mean resting pressure was reduced after hysterectomy (57 mmHg-53 mmHg, P = 0.0541), the maximal forced voluntary contraction pressure was significantly decreased (115 mmHg-105 mmHg, P = 0.029). This effect was more pronounced in those with five or more previous vaginal deliveries (P = 0.0244, n = 9). There was no significant change in the number of patients with an intact ano-rectal inhibitory reflex after hysterectomy. There was no change in rectal sensation to distension, and the right and left pudendal nerve terminal motor latencies were unaltered at follow-up. Our results demonstrate that hysterectomy causes a decrease in the maximal forced voluntary contraction and pressure, and this appears to be due to a large decrease in a small group of patients with previous multiple vaginal deliveries.

  3. Short-term outcome of posterior anorectal myectomy for treatment of ...

    African Journals Online (AJOL)

    intractable IC were included in this study after failure of bowel management .... studies, who showed improvement in bowel habit in 85.7% of 61 children ... evaluation of modified lateral anorectal myomectomy for low-segment. Hirschsprung's ...

  4. ANMS-ESNM position paper and consensus guidelines on biofeedback therapy for anorectal disorders

    NARCIS (Netherlands)

    Rao, S. S. C.; Benninga, M. A.; Bharucha, A. E.; Chiarioni, G.; Di Lorenzo, C.; Whitehead, W. E.

    2015-01-01

    Anorectal disorders such as dyssynergic defecation, fecal incontinence, levator ani syndrome, and solitary rectal ulcer syndrome are common, and affect both the adult and pediatric populations. Although they are treated with several treatment approaches, over the last two decades, biofeedback

  5. Prenatal diagnosis of concurrent facial and cerebral vascular malformation which caused congestive heart failure

    Directory of Open Access Journals (Sweden)

    Behnaz Moradi

    2017-12-01

    Full Text Available Arteriovenous malformations (AVMs are rarely reported antenatally. Most in utero diagnosis of vascular malformation is related to vein of Galen malformation (VGM. We describe a case of simultaneously diagnosed pial arteriovenous fistula (AVF and facial vascular malformation in a 20 weeks old fetus. The dilated intracranial venous pouch appeared as a midline anechoic structure which was misdiagnosed as a VGM in her previous ultrasound exam. Another AVM was diagnosed in the same side of fetal face which fed by a branch of external carotid artery and communicated with the mentioned pial AVF. High output cardiac failure and hydrops were evident. To our knowledge this is the first report of prenatally detected combination of facial and cerebral vascular malformations at such as early pregnancy week.

  6. Morbidity rate due to renal malformations in patients from Las Tunas province

    Directory of Open Access Journals (Sweden)

    Silvio Laffita Estévez

    2015-09-01

    Full Text Available Background: The urogenital congenital malformations represent the first place within the genetic malformations in the province of Las Tunas.Objective: To characterize the renal congenital malformations in pediatric patients of the herein mentioned province, from 2010 to 2014.Methods: A descriptive study was carried out with 283 paediatric patients with renal and urinary tract congenital malformation, in the province and period herein stated. The variables included: sex, clinical manifestations, more frequent malformations, which of them needed surgical treatment, the positive results of the radiological studies, and the malformations that developed into chronic renal failure. The data were analyzed according to descriptive statistics.Results: The male sex represented a 63,96 %. A 57,95 % of the children were asymptomatic. Within the congenital malformations ectasia prevailed with a 49,47 %. 100 % of the cases with a compromise of the ureteovesiccal union, ureterocele and shell of the posterior urethra, 78 % of the patients with stenosis of the ureteropyelic union and 4,76 % of the patients with vesicoureteric reflux needed surgical treatment. The radiological studies were highly positive. 1,41 % of the patients developed chronic renal failure.Conclusions: Most of the patients with renal and urinary tract congenital malformations were diagnosed before the 5 years of age. Only four patients developed chronic renal failure.

  7. Diagnosis and Management of Anorectal Disorders in the Primary Care Setting.

    Science.gov (United States)

    Davies, Danielle; Bailey, Justin

    2017-12-01

    Anorectal disorders are very common among a wide population of patients. Because patients may be embarrassed about the anatomic location of their symptoms, they may present to care late in the course of their illness. Care should be taken to validate patient concerns and normalize fears. This article discusses the diagnoses and management of common anorectal disorders among patients presenting to a primary care physician. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. Esophageal and anorectal involvement in systemic sclerosis: a systematic assessment with high resolution manometry.

    Science.gov (United States)

    Luciano, Laure; Granel, Brigitte; Bernit, Emmanuelle; Harle, Jean-Robert; Baumstarck, Karine; Grimaud, Jean-Charles; Bouvier, Michel; Vitton, Véronique

    2016-01-01

    In systemic sclerosis (SSc), esophageal and anorectal involvements are frequent and often associated with each other. In clinical practice, esophageal explorations are often prescribed, while anorectal explorations are rarely proposed and therefore, under-recognised. However, it is well documented in the literature that early detection of anorectal dysfunction could delay and/or prevent the onset of symptoms such as fecal incontinence (FI). The main objective was the systematic evaluation and detection of esophageal and anorectal involvements in SSc patients. In this monocentric retrospective study, all patients with SSc addressed in the Department of Functional Digestive Explorations, North Hospital, Marseille for esophageal and anorectal explorations were included. Self-Questionnaires, evaluating the symptoms and quality of life, were filled by patients during their visit. Explorations were performed on the same day: high resolution esophageal manometry (EHRM), 3 Dimensional high resolution anorectal manometry (3DHRARM) and endo anal sonography (EUS). 44 patients (41 women), mean age 59.8±12 years, were included. With regard to the symptoms, 45.5% of patients had gastro-esophageal reflux disease (GERD), 66.9% dysphagia, 65.9% constipation and 77.3% FI. The incidence of esophageal dismotility was 65.9%, anorectal and both upper and lower dysfunction were 43.2%. More than 89% patients with abnormal explorations (EHRM, 3DHRARM or both) were symptomatic. Duration of SSc and altered quality of life was correlated with the severity of digestive involvement. Anorectal dysfunction appears to be closely linked to esophageal involvement in SSc. Their routine screening is undoubtedly essential to limit the occurrence of severe symptoms such as FI.

  9. Sirenomelia and caudal malformations in two families.

    Science.gov (United States)

    Gerard, Marion; Layet, Valérie; Costa, Teresa; Roumazeilles, Yves; Chenal, Pierre; Cailliez, Daniel; Gerard, Bénédicte

    2012-07-01

    We report on two families with co-occurrence of sirenomelia and caudal malformations. In the first family, the mother had undergone surgery for a short form of imperforate anus. Her first pregnancy was terminated because of bilateral renal agenesis with oligohydramnios. Her second pregnancy was interrupted because of sirenomelia. The second family was referred to us because of caudal malformation in their two children. The parents' spinal radiographs were normal. The first pregnancy resulted in a girl with imperforate anus, absence of S3-S5 and coccyx, abnormal pelvic floor, and an almost bifid anteriorly located bladder. The second pregnancy resulted in a baby girl with sirenomelia. No diabetes was present during the pregnancies in either of these two families. These families confirm the hypothesis that major genes are responsible for the embryogenesis of the caudal part of the embryo, with variable expression, as has been already described in sirenomelia mouse models (CYP26A1, BMP7/tsg). Molecular studies are underway in these families and in sporadic cases in our laboratory to explore the genetic basis of sirenomelia in humans. Copyright © 2012 Wiley Periodicals, Inc.

  10. Amplatzer vascular plugs in congenital cardiovascular malformations

    International Nuclear Information System (INIS)

    Barwad, Parag; Ramakrishnan, Sivasubramanian; Kothari, Shyam S; Saxena, Anita; Gupta, Saurabh K; Juneja, Rajnish; Gulati, Gurpreet Singh; Jagia, Priya; Sharma, Sanjiv

    2013-01-01

    Amplatzer vascular plugs (AVPs) are devices ideally suited to close medium-to-large vascular communications. There is limited published literature regarding the utility of AVPs in congenital cardiovascular malformations (CCVMs). To describe the use of AVPs in different CCVMs and to evaluate their safety and efficacy. All patients who required an AVP for the closure of CCVM were included in this retrospective review of our catheterization laboratory data. The efficacy and safety of AVPs are reported. A total of 39 AVPs were implanted in 31 patients. Thirteen (33%) were AVP type I and 23 (59%) were AVP type II. AVP type III were implanted in two patients and type IV in one patient. The major indications for their use included closure of pulmonary arteriovenous malformation (AVM) (n = 7), aortopulmonary collaterals (n = 7), closure of a patent Blalock-Taussig shunt (n = 5), systemic AVM (n = 5), coronary AVM (n = 4), patent ductus arteriosus (PDA) (n = 3), pulmonary artery aneurysms (n = 3), and venovenous collaterals (n = 2). Deployment of the AVP was done predominantly via the 5 – 7F Judkin's right coronary guide catheter. Overall 92% of the AVPs could be successfully deployed and resulted in occlusion of the target vessel in all cases, within 10 minutes. No procedure-related or access site complication occurred. AVPs are versatile, easy to use, and effective devices to occlude the vascular communications in a variety of settings. AVP II is especially useful in the closure of tubular structures with a high flow

  11. Symptomatic Chiari malformation in infancy and adolescence

    International Nuclear Information System (INIS)

    Fukushima, Takeo; Matsuda, Toshihiro; Tsugu, Hitoshi; Sakamoto, Seisaburou; Tomonaga, Masamichi; Asakawa, Koji; Mitsudome, Akihisa; Hashimoto, Takahisa.

    1994-01-01

    Of the 7 children and adolescents with Chiari malformation reported here 5 had Chiari type 1 and 2 had Chiari type 2 disease. All 5 Chiari type 1 patients had syringomyelia and scoliosis, but the Chiari type 2 patients did not. All the patients except one with localized syringomyelia (case 3) underwent posterior decompression with suboccipital craniectomy, upper cervical laminectomy and duraplasty, and their clinical signs and symptoms improved. Case 3 received a syringo-subarachnoid shunt and improved clinically. Motor function was restored better than sensory function. Cranial nerve signs were cleared up in the Chiari type 2 patients. In the Chiari type 1 patients postoperative neurological improvement correlated well with the collapse of syringomyelia. Cine MR imaging was useful in the evaluation of CSF dynamics at the cranio-vertebral junction and in the syringomyelic cavity before and after surgery. (author)

  12. Should anorectal ultrasonography be included as a diagnostic tool for chronic anal pain?

    Directory of Open Access Journals (Sweden)

    M. J. García-Montes

    Full Text Available Objective: to assess the efficiency of endorectal ultrasound (ERUS in the study of chronic idiopathic anal pain (CIAP. Material and method: this is a prospective and descriptive study in which 40 patients, 18 men and 22 women with an average of 47 years, were included. They had chronic anal pain of at least 3 months' duration. A complete colonoscopy was performed in all patients, which found no abnormalities to explain clinical symptoms. Patients with anal fissure and internal hemorrhoids of any degree, perianal suppurative processes, and pelvic surgery were excluded from the study. An ALOKA ProSound SSD-4000 ultrasound console attached to a multifrequency radial transductor ASU-67 (7.5 and 10 MHz was used. Results: one patient could not tolerate the examination. In 8 patients (20% of cases alterations were detected during ultrasonography: in 4 patients (10% of the cases; 1 man and 3 women internal anal sphincter (IAS hypertrophy, and in 5 patients (4 women and 1 man a torn sphincter complex. A tear in the upper IAS canal and hypertrophy of the middle anal canal were observed in one patient (1 woman. Conclusions: ERUS is a simple, economic and useful test to study anorectal pathologies. Although in most studied cases no damage to the anal canal or rectal wall was detected, in a considerable number of patients we observed a thickening of the IAS, a probable cause of anal pain. Therefore, we understand that ERUS should be included in the study of CIAP.

  13. Should anorectal ultrasonography be included as a diagnostic tool for chronic anal pain?

    Science.gov (United States)

    García-Montes, M J; Argüelles-Arias, Federico; Jiménez-Contreras, S; Sánchez-Gey, S; Pellicer-Bautista, F; Herrerías-Gutiérrez, J M

    2010-01-01

    To assess the efficiency of endorectal ultrasound (ERUS) in the study of chronic idiopathic anal pain (CIAP). This is a prospective and descriptive study in which 40 patients, 18 men and 22 women with an average of 47 years, were included. They had chronic anal pain of at least 3 months duration. A complete colonoscopy was performed in all patients, which found no abnormalities to explain clinical symptoms. Patients with anal fissure and internal hemorrhoids of any degree, perianal suppurative processes, and pelvic surgery were excluded from the study. An ALOKA ProSound SSD-4000 ultrasound console attached to a multifrequency radial transductor ASU-67 (7.5 and 10 MHz) was used. One patient could not tolerate the examination. In 8 patients (20% of cases) alterations were detected during ultrasonography: in 4 patients (10% of the cases; 1 man and 3 women) internal anal sphincter (IAS) hypertrophy, and in 5 patients (4 women and 1 man) a torn sphincter complex. A tear in the upper IAS canal and hypertrophy of the middle anal canal were observed in one patient (1 woman). ERUS is a simple, economic and useful test to study anorectal pathologies. Although in most studied cases no damage to the anal canal or rectal wall was detected, in a considerable number of patients we observed a thickening of the IAS, a probable cause of anal pain. Therefore, we understand that ERUS should be included in the study of CIAP.

  14. Prenatal diagnostic procedures used in pregnancies with congenital malformations in 14 regions of Europe

    NARCIS (Netherlands)

    Garne, E; Loane, M; de Vigan, C; Scarano, G; de Walle, H; Gillerot, Y; Stoll, C; Addor, MC; Stone, D; Gener, B; Feijoo, M; Mosquera-Tenreiro, C; Gatt, M; Queisser-Luft, A; Baena, N; Dolk, H

    2004-01-01

    Objective To investigate outcomes of ultrasound investigations (US) and invasive diagnostic procedures in cases of congenital malformations (CM), and to compare the use of invasive prenatal test techniques (amniocentesis (AC) versus chorionic villus sampling (CVS)) among European populations. Design

  15. Congenital Malformations Associated with the Administration of Oral Anticoagulants During Pregnancy

    Science.gov (United States)

    Pettifor, J. M.; Benson, R.

    1975-01-01

    Reported are case histories of three infants with congenital malformations (including defective formation of the nose and hands) associated with ingestion of oral anticoagulants during the first trimester of pregnancy. (CL)

  16. Anorectal pathology amongst HIV infected patients attending the Douala General Hospital: a cross-sectional study.

    Science.gov (United States)

    Luma, Henry Namme; Eloumou, Servais Albert Fiacre Bagnaka; Fualefeh-Morfaw, Ellis Atemlefeh; Malongue, Agnes; Temfack, Elvis; Lekpa, Fernando Kemta; Donfack-Sontsa, Olivier; Ndip, Lucy; Ditah, Ivo Che

    2017-03-01

    While gastrointestinal disease is common among HIV infected individuals, the prevalence and distribution of ano-rectal pathology has not been well studied in our setting. The objective of this study therefore was to determine the prevalence and determinants of ano-rectal pathology in HIV infected patients attending the Douala General Hospital HIV treatment centre. A hospital-based cross-sectional study was undertaken. We collected socio-demographic, clinical and laboratory data using a structured questionnaire and patients' files. Each study participant had a full physical and ano-rectal examination. We further studied factors associated with having at least one ano-rectal lesion by logistic regression reporting odds ratios (ORs) and their 95% confidence intervals (CI). We included 390 HIV infected patients. The mean age was 41 (SD: 8) years and 48% were men. Median duration since HIV diagnosis was 3 (interquartile range: 2-5) years and median CD4 cell count was 411 (interquartile range: 234-601) cells/mm 3 . Prevalence of ano-rectal pathology was 22.8% (95% CI: 18.7-27.3). Hemorrhoids and proctitis were most common lesions found; each in 10% of patients. From multivariate logistic regression, factors associated with ano-rectal pathology were CD4 HIV infected patients. Care givers should actively investigate and treat them as this will improve the quality of life of people living with HIV/AIDS.

  17. Screening for pulmonary arteriovenous malformations

    DEFF Research Database (Denmark)

    Oxhøj, H; Kjeldsen, A D; Nielsen, G

    2000-01-01

    Pulmonary arteriovenous malformations (PAVM) cause right-to-left shunt and imply risk of paradoxical embolism and cerebral abscess. These complications can be prevented by appropriate treatment. Detection of PAVMs is therefore important, so simple and reliable screening methods are needed...... for this purpose. The aim of this investigation was to compare pulse oximetry and contrast echocardiography as screening tools for detection of pulmonary arteriovenous malformations. Eighty-five hereditary haemorrhagic telangiectasia (HHT) patients and first-degree relatives identified in a comprehensive study...... echocardiography with intravenous injection of echo contrast was performed in all subjects. Outcome measures were oxygen saturation change >2% units on changing body position and echo contrast observed in the left-sided heart chambers. Positive contrast echocardiography indicating the presence of PAVM was found...

  18. Perinatal risk factors including malformation

    International Nuclear Information System (INIS)

    Brachner, A.; Grosche, B.

    1991-10-01

    The study gives a survey of the factors most frequently mentioned in the literature as factors likely to adversely affect a pregnancy. One essential aspect is the discussion of those factors that can be counted among the causes of malformations, as among others, prenatal radiation exposure. The study prepared within the framework of the research project 'Radiobiological environmental monitoring in Bavaria' is intended to serve as a basis for a retrospective and prospective evaluation of infant mortality, perinatal conditions and occurrence of malformations in Bavaria, with the principal idea of drawing up an environment - related health survey. The study therefore, in addition to ionizing radiation also takes into account other detectable risks within the ecologic context, as e.g. industrial installations, refuse incineration plants or waste dumps, or urbanity. (orig./MG) [de

  19. Manometria Anorretal no Divertículo de Reto Anorectal Manometry in Rectal Diverticulum

    Directory of Open Access Journals (Sweden)

    Carlos Augusto Real Martinez

    2010-03-01

    the rectum still has controversial aspects regarding its origin is congenital or acquired. Recently, alterations of the evacuative dynamic had been associated with the development of the disease. Nevertheless, until the present date, the manometric alterations in patients with diverticulum of the rectum were not studied. OBJECTIVE: The aim of the present study is to demonstrate the results of electromanometric study carried out in a patient with isolated diverticulum of the rectum. CASE REPORT: A man and a woman, 56 and 58 years-old, respectively, were submitted to colonoscopy, barium enema, endorectal ultrasound and magnetic resonance of the pelvis to diagnose and document the presence of diverticulum located in the rectum. The patients were submitted to manometry using catheter with eight-channel perfusion under water at 0.3 ml/min/channel, through pneumatic and hydraulic capillary infusion system. The anorectal manometry showed normally sphincter pressure profile both in rest and squeezes pressure state, and did not find sphincter asymmetries. The anorectal inhibition reflex was present with normal values and the sensibility and rectal complaisance were between the normal limits. The vector volume analysis did not show any significant alterations and it was concluded by normal manometric anorectal study. CONCLUSION: The anorectal manometry study did not demonstrate the existence of pressure disturbances in anorectal sphincter, enhancing the possibility that the rectal diverticulum can be congenital, developing at points where there is major weakness of the rectal wall.

  20. Extracranial vascular malformation: value of antenatal and postnatal MRI in management

    Energy Technology Data Exchange (ETDEWEB)

    Roche, C.J.; Pilling, D.W. [Dept. of Radiology, Royal Liverpool Children' s Hospital NHS Trust (United Kingdom); Walkinshaw, S.A. [Dept. of Fetal Medicine, Liverpool Women' s Hospital (United Kingdom); May, P.L. [Dept. of Neurosurgery, Royal Liverpool Children' s Hospital NHS Trust (United Kingdom)

    2001-10-01

    We report a case where fetal MRI using a low-field-strength magnet (0.5 T) accurately confirmed a large extracranial vascular malformation, which was suspected on antenatal US. Fetal MRI enabled better counselling of the parents and allowed suitable plans to be made regarding method of delivery and early management of the neonate. To our knowledge this is the first case of an extracranial vascular malformation imaged using fetal MRI. (orig.)

  1. A long-Segmental Vascular Malformation in the Small Bowel Presenting With Gastrointestinal Bleeding in a Preschool-Aged Child

    International Nuclear Information System (INIS)

    Lee, Yeoun Joo; Hwang, Jae-Yeon; Cho, Yong Hoon; Kim, Yong-Woo; Kim, Tae Un; Shin, Dong Hoon

    2016-01-01

    Gastrointestinal (GI) bleeding in pediatric patients has several causes. Vascular malformation of the small bowel is a rare disease leading to pediatric GI bleeding. To our knowledge, few reports describe ultrasound and computed tomography findings of venous malformations involving the small bowel. We present a case of long-segmental and circumferential vascular malformation that led to GI bleeding in a pre-school aged child, focusing on the radiologic findings. Although vascular malformation including of the GI tract is rare in children, it should be considered when GI bleeding occurs in pediatric patients

  2. Congenital malformations of the skull and meninges.

    Science.gov (United States)

    Kanev, Paul M

    2007-02-01

    The surgery and management of children who have congenital malformations of the skull and meninges require multidisciplinary care and long-term follow-up by multiple specialists in birth defects. The high definition of three-dimensional CT and MRI allows precise surgery planning of reconstruction and management of associated malformations. The reconstruction of meningoencephaloceles and craniosynostosis are challenging procedures that transform the child's appearance. The embryology, clinical presentation, and surgical management of these malformations are reviewed.

  3. Intracranial arteriovenous malformation. Contralateral steal phenomena

    Energy Technology Data Exchange (ETDEWEB)

    Batjer, H H; Devous, M D; Seibert, G B; Purdy, P D; Ajmani, A K; Delarosa, M; Bonte, F J [Texas Univ., Dallas, TX (USA). Southwestern Medical Center

    1989-05-01

    Sixty-two patients with radiographically proven intracranial arteriovenous malformations underwent preoperative regional cerebral blood flow measurement with {sup 133}Xe signal-photon emission computed tomography. Contralateral regions of hypoperfusion were deteceted in all cases. Steal severity was assessed according to the contralateral steal index (ISteal(c)). ISteal(c) was < 0.7 (severe) in 22 (35%), 0.7-0.8 (intermediate) in 18 (29%), and > 0.8 (mild) in 22 (35%). ISteal(c) was more frequently severe or mild in females and more often intermediate in males in males (p < 0.05). Hyperemic complications were encountered more frequently in patients with intermediate ISteal(c) (p = 0.086). An unfavorable outcome was associated with less severe contralateral steal (p = 0.12). A detailed clinical, radiographic, and hemodynamic profile may help to preperatively identify patients at high risk for a poor surgical outcome. (author).

  4. Maternal reproductive history and the risk of isolated congenital malformations.

    Science.gov (United States)

    Materna-Kiryluk, A; Więckowska, B; Wiśniewska, K; Borszewska-Kornacka, M K; Godula-Stuglik, U; Limon, J; Rusin, J; Sawulicka-Oleszczuk, H; Szwałkiewicz-Warowicka, E; Walczak, M

    2011-03-01

    We examined the relationship between maternal reproductive history and the newborn's risk of isolated congenital malformations in a large case-control cohort from the Polish Registry of Congenital Malformations. Congenital malformations were classified into four categories: isolated congenital heart defects (n=1673), isolated cleft palate (n=255), cleft lip with or without cleft palate (n=448) and renal agenesis (n=103). The case groups were compared with a shared group of 2068 controls recruited in the same time period and geographic area. Multivariable logistic regression was used to assess the risk associated with maternal gravidity and of previous miscarriages after accounting for maternal age and other potential risk factors. In unadjusted analyses, maternal gravidity was significantly associated with increased risk of all four classes of congenital malformations. After adjustment, a significant association persisted for congenital heart defects [odds ratio (OR)=1.22, [95% confidence interval (CI) 1.09, 1.36], P=0.0007] and cleft lip with or without cleft palate (OR=1.21, [95% CI 1.09, 1.36], P=0.0005). A similar trend existed for isolated cleft palate (OR=1.18, [95% CI 1.02, 1.37], P=0.03). There was no appreciable increase in the risk of congenital malformations associated with a maternal history of miscarriages, but a trend for a protective effect on the occurrence of cleft lip with or without cleft palate was observed (OR=0.72, [95% CI 0.52, 0.99], P=0.045). Based on our data, maternal gravidity represents a significant risk factor for congenital heart defects and cleft lip with or without cleft palate in the newborn infant. Our data do not support an increase in risk because of past history of miscarriages. © 2011 Blackwell Publishing Ltd.

  5. Magnetic resonance imaging features of complex Chiari malformation variant of Chiari 1 malformation

    Energy Technology Data Exchange (ETDEWEB)

    Moore, Hannah E. [Primary Children' s Medical Center, Department of Medical Imaging, Salt Lake City, UT (United States); Moore, Kevin R. [University of Utah School of Medicine, Department of Radiology, Salt Lake City, UT (United States); Primary Children' s Medical Center, Department of Medical Imaging, Salt Lake City, UT (United States)

    2014-11-15

    Complex Chiari malformation is a subgroup of Chiari 1 malformation with distinct imaging features. Children with complex Chiari malformation are reported to have a more severe clinical phenotype and sometimes require more extensive surgical treatment than those with uncomplicated Chiari 1 malformation. We describe reported MR imaging features of complex Chiari malformation and evaluate the utility of craniometric parameters and qualitative anatomical observations for distinguishing complex Chiari malformation from uncomplicated Chiari 1 malformation. We conducted a retrospective search of the institutional imaging database using the keywords ''Chiari'' and ''Chiari 1'' to identify children imaged during the 2006-2011 time period. Children with Chiari 2 malformation were excluded after imaging review. We used the first available diagnostic brain or cervical spine MR study for data measurement. Standard measurements and observations were made of obex level (mm), cerebellar tonsillar descent (mm), perpendicular distance to basion-C2 line (pB-C2, mm), craniocervical angle (degrees), clivus length, and presence or absence of syringohydromyelia, basilar invagination and congenital craniovertebral junction osseous anomalies. After imaging review, we accessed the institutional health care clinical database to determine whether each subject clinically met criteria for Chiari 1 malformation or complex Chiari malformation. Obex level and craniocervical angle measurements showed statistically significant differences between the populations with complex Chiari malformation and uncomplicated Chiari 1 malformation. Cerebellar tonsillar descent and perpendicular distance to basion-C2 line measurements trended toward but did not meet statistical significance. Odontoid retroflexion, craniovertebral junction osseous anomalies, and syringohydromyelia were all observed proportionally more often in children with complex Chiari malformation than in

  6. Congenital Auricular Malformations: Description of Anomalies and Syndromes.

    Science.gov (United States)

    Bartel-Friedrich, Sylva

    2015-12-01

    Half of the malformations in the ear, nose, and throat region affect the ear. Malformations of the external ear (pinna or auricle with external auditory canal [EAC]) are collectively termed microtia. Microtia is a congenital anomaly that ranges in severity from mild structural abnormalities to complete absence of the external ear (anotia). Microtia occurs more frequently in males (∼2 or 3:1), is predominantly unilateral (∼70-90%), and more often involves the right ear (∼60%). The reported prevalence varies geographically from 0.83 to 17.4 per 10,000 births. Microtia may be genetic (with family history, spontaneous mutations) or acquired. Malformations of the external ear can also involve the middle ear and/or inner ear. Microtia may be an isolated birth defect, but associated anomalies or syndromes are described in 20 to 60% of cases, depending on study design. These generally fit within the oculo-auriculo-vertebral spectrum; defects are located most frequently in the facial skeleton, facial soft tissues, heart, and vertebral column, or comprise a syndrome (e.g., Treacher Collins syndrome). Diagnostic investigation of microtia includes clinical examination, audiologic testing, genetic analysis and, especially in higher grade malformations with EAC deformities, computed tomography (CT) or cone-beam CT for the planning of surgery and rehabilitation procedures, including implantation of hearing aids. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  7. Malformations of the midline commissures: MRI findings in different forms of callosal dysgenesis

    International Nuclear Information System (INIS)

    Kueker, W.; Mader, I.; Naegele, T.; Mayrhofer, H.; Kraegeloh-Mann, I.

    2003-01-01

    Malformations of the corpus callosum (CC) may occur in many different syndromes. Various forms have been observed. We report seven cases of malformation of the CC. Special attention is directed towards the development of the fornix and hippocampus as a hippocampal commissure is a prerequisite of normal hippocampal development. The clinical disability of the patients presented here differed significantly, which may in part be due to the different extent of this cerebral malformation. The relevance of the concomitant aplasia of the limbic system has not been addressed in detail previously in the literature. (orig.)

  8. Anorectal function and morphology in patients with sporadic proctalgia fugax.

    Science.gov (United States)

    Eckardt, V F; Dodt, O; Kanzler, G; Bernhard, G

    1996-07-01

    The pathophysiology of sporadic proctalgia fugax remains unknown. This study investigates whether patients with this syndrome exhibit alterations in anal function and morphology. Eighteen patients with sporadic proctalgia fugax and 18 sex-matched and age-matched healthy controls were studied. Manometric studies investigated anal resting and squeeze pressures, the rectoanal inhibitory reflex, rectal compliance, and smooth muscle response to edrophonium chloride administration. External and internal sphincter thickness was measured endosonographically. Patients had slightly higher (P = 0.0291) anal resting pressures (65.5 +/- 11.4 mmHg) than controls (56 +/- 9.9 mmHg). However, anal squeeze pressure, sphincter relaxation during rectal distention, and rectal compliance were similar in both groups, and no alterations were detected in external and internal anal sphincter thickness. Edrophonium chloride administration was followed by sharp postrelaxation contractions in two patients, whereas anal function remained unaltered in controls. Acute episodes of proctalgia, which occurred in two patients while under study, were associated with a rise in anal resting tone and an increase in slow wave amplitude. In the resting state, patients with proctalgia fugax have normal anorectal function and morphology. However, they may exhibit a motor abnormality of the anal smooth muscle during an acute attack.

  9. Anorectal functional outcome after repeated transanal endoscopic microsurgery.

    Science.gov (United States)

    Zhang, Hong-Wei; Han, Xiao-Dong; Wang, Yu; Zhang, Pin; Jin, Zhi-Ming

    2012-10-28

    To evaluate the status of anorectal function after repeated transanal endoscopic microsurgery (TEM). Twenty-one patients undergoing subtotal colectomy with ileorectal anastomosis were included. There were more than 5 large (> 1 cm) polyps in the remaining rectum (range: 6-20 cm from the anal edge). All patients, 19 with villous adenomas and 2 with low-grade adenocarcinomas, underwent TEM with submucosal endoscopic excision at least twice between 2005 and 2011. Anorectal manometry and a questionnaire about incontinence were carried out at week 1 before operation, and at weeks 2 and 3 and 6 mo after the last operation. Anal resting pressure, maximum squeeze pressure, maximum tolerable volume (MTV) and rectoanal inhibitory reflexes (RAIR) were recorded. The integrity and thickness of the internal anal sphincter (IAS) and external anal sphincter (EAS) were also evaluated by endoanal ultrasonography. We determined the physical and mental health status with SF-36 score to assess the effect of multiple TEM on patient quality of life (QoL). All patients answered the questionnaire. Apart from negative RAIR in 4 patients, all of the anorectal manometric values in the 21 patients were normal before operation. Mean anal resting pressure decreased from 38 ± 5 mmHg to 19 ± 3 mmHg (38 ± 5 mmHg vs 19 ± 3 mmHg, P = 0.000) and MTV from 165 ± 19 mL to 60 ± 11 mL (165 ± 19 mL vs 60 ± 11 mL, P = 0.000) at month 3 after surgery. Anal resting pressure and MTV were 37 ± 5 mmHg (38 ± 5 mmHg vs 37 ± 5 mmHg, P = 0.057) and 159 ± 19 mL (165 ± 19 mL vs 159 ± 19 mL, P = 0.071), respectively, at month 6 after TEM. Maximal squeeze pressure decreased from 171 ± 19 mmHg to 62 ± 12 mmHg (171 ± 19 mmHg vs 62 ± 12 mmHg, P = 0.000) at week 2 after operation, and returned to normal values by postoperative month 3 (171 ± 19 vs 166 ± 18, P = 0.051). RAIR were absent in 4 patients preoperatively and in 12 (χ(2) = 4.947, P = 0.026) patients at month 3 after surgery. RAIR was absent only

  10. Y-duplication of the male urethra: use of anterior anorectal wall for posterior urethral lengthening.

    Science.gov (United States)

    Sinha, S; Sen, S; Chacko, J; Thomas, G; Karl, S; Mathai, J

    2006-06-01

    We have approached two patients with Y-duplication of the male urethra by a new two-staged technique to provide better results. A strip of anterior anorectal wall in continuity with the posterior urethra was used for posterior urethral lengthening and a tubed pedicled prepucial flap was used to reconstruct the anterior urethra without using the native urethra. This was done under a covering colostomy. After a gap of 6 months to allow for healing of the anorectum and to ensure adequate functioning of the perineal neourethra, second stage reconstruction was done using buried scrotal tube for the mid urethra along with colostomy closure. On follow-up at 8 and 12 months, respectively, both children were well with no stricture or fistula. There was normal anal continence and no stenosis. This technique tackles the problem in Y-duplication of the male urethra of lengthening the posterior urethral channel, which is often difficult to bring to the anterior half of the perineum especially if the opening is high up in the anorectum (case 2).

  11. "COCHLEAR IMPLANTATION IN PATIENTS WITH INNER EAR MALFORMATIONS"

    Directory of Open Access Journals (Sweden)

    P. Borghei S. Abdi

    2004-08-01

    Full Text Available Performing cochlear implantation in patients with inner ear malformation has always been a matter of dispute. This study was designed to analyze the operative findings,complications, and postoperative performance of patients with inner ear anomalies who underwent cochlear implantation. Six patients with inner ear malformations underwent implantation in our academic tertiary referral center from 1997 to 2002. The average follow-up period was 27 months. Malformations included one incomplete partition, one common cavity, one narrow internal acoustic canal (IAC in a patient with Riley-Day syndrome and 3 cases of large vestibular aqueduct. All received multi-channel implants either Nucleus 22 or Clarion device. Facial nerve was anomalous in 2 cases. CSF gusher occurred in 4 patients, which was controlled with packing the cochleostomy site. In all cases, the full length of electrode array was inserted, except one with Mondini's dysplasia where insertion failed in the first operation and was referred to another center for a successful surgery on the opposite ear. No other surgical complications were encountered. In 4 cases, all the 22 electrodes could be activated. All patients showed improved hearing performance after implantation. Four showed open-set speech recognition. The one with narrow IAC showed improved awareness to environmental sounds. In the other case (common cavity, the perception tests could not be performed because of very young age. Cochlear implantation in patients with inner ear malformations is a successful way of rehabilitation, although complications should be expected and auditory responses may be highly variable and relatively moderate.

  12. Prospective multicenter trial comparing echodefecography with defecography in the assessment of anorectal dysfunction in patients with obstructed defecation.

    Science.gov (United States)

    Regadas, F Sergio P; Haas, Eric M; Abbas, Maher A; Marcio Jorge, J; Habr-Gama, Angelita; Sands, Dana; Wexner, Steven D; Melo-Amaral, Ingrid; Sardiñas, Carlos; Lima, Doryane M; Sagae, Univaldo E; Sagae, Evaldo U; Murad-Regadas, Sthela M

    2011-06-01

    Defecography is the gold standard for assessing functional anorectal disorders but is limited by the need for a specific radiologic environment, exposure of patients to radiation, and inability to show all anatomic structures involved in defecation. Echodefecography is a 3-dimensional dynamic ultrasound technique developed to overcome these limitations. This study was designed to validate the effectiveness of echodefecography compared with defecography in the assessment of anorectal dysfunctions related to obstructed defecation. Multicenter, prospective observational study. Women with symptoms of obstructed defecation. Six centers for colorectal surgery (3 in Brazil, 1 in Texas, 1 in Florida, and 1 in Venezuela). Defecography was performed after inserting 150 mL of barium paste in the rectum. Echodefecography was performed with a 2050 endoprobe through 3 automatic scans. The κ statistic was used to assess agreement between echodefecography and defecography in the evaluation of rectocele, intussusception, anismus, and grade III enterocele. Eighty-six women were evaluated: median Wexner constipation score, 13.4 (range, 6-23); median age, 53.4 (range, 26-77) years. Rectocele was identified with substantial agreement between the 2 methods (defecography, 80 patients; echodefecography, 76 patients; κ = 0.61; 95% CI = 0.48-0.73). The 2 techniques demonstrated identical findings in 6 patients without rectocele, and in 9 patients with grade I, 29 with grade II, and 19 patients with grade III rectoceles. Defecography identified rectal intussusception in 42 patients, with echodefecography identifying 37 of these cases, plus 4 additional cases, yielding substantial agreement (κ = 0.79; 95% CI = 0.57-1.0). Intussusception was associated with rectocele in 28 patients for both methods (κ = 0.62; 95% CI = 0.41-0.83). There was substantial agreement for anismus (κ = 0.61; 95% CI = 0.40-0.81) and for rectocele combined with anismus (κ = 0.61; 95% CI = 0.40-0.82). Agreement for

  13. Imaging diagnosis of venous malformation in head and neck

    International Nuclear Information System (INIS)

    Ha, Doo Hoe; Kim, Dong Ik; Suh, Jung Ho; Jung, Tae Sub

    1992-01-01

    The venous malformation in head and neck is a development vascular disease which arises from the arrest in the certain stage of vascular embryogenesis. However, the lesion extends along the fascia and has a tendency to recur after incomplete therapy. Retrospectively, the authors reviewed radiologic studies of 20 patients diagnosed as venous malformation during the last 5 years. The diagnosis was verified by histopathology (5 patients) and direct puncture angiography (15 patients). The radiologic studies included. CT with intravenous contrast injection (20 patients), RI angiography with 99mTc-pyrophosphate (6 patients), and direct puncture angiography (15 patients). Multiplicity of venous malformation was noted in 9 patients. On CT scan, the lesions had lobulated irregular shape, with heterogeneous appearance, showed delayed enhancing characteristics, and had the phleboliths (21 lesions). The venous malformations were located at the masticator space (including masseter muscle) (n = 12), retrobulbar space (n 6), submandibular space (n = 4), paravertebral space (n = 3) and so on. In two cases, the lesions were very extensive involving entire neck and parapharynx. On RI angiography using 99m Tc-pyrophosphate, all of the lesions showed persistent and delayed uptake. With direct puncture angiography the lesions could be classified as acinar pattern (n = 17) and mixed pattern (acinar and saccular) (n = 2). Venous connections were noted in 10 lesions. In conclusion, if a soft tissue mass on head and neck shows a heterogeneous attenuation density with or without calcified phlebolith on CT scan, RI angiography is recommended as a next diagnostic study. If it shows delayed persistent uptake, venous malformation can be suspected. Finally direct puncture angiography can verify the nature and extent of the lesion

  14. Arteriovenous malformation of the external ear: a clinical assessment with a scoping review of the literature

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    Shin Hye Kim

    Full Text Available Abstract Introduction: Auricular Arteriovenous Malformation of the external ear is a rarely encountered disease; in particular, arteriovenous malformation arising from the auricle, with spontaneous bleeding, has seldom been reported. Objective: In the current study, we report an unusual case of late-onset auricular arteriovenous malformation originating from the posterior auricular artery that was confirmed by computed tomographic angiography. The case was successfully managed by pre-surgical intravascular embolization followed by total lesion excision. Prompted by this case, we also present a scoping review of the literature. Methods: A case of a 60 year-old man with right auricular arteriovenous malformation treated in our tertiary care center, and 52 patients with auricular arteriovenous malformation described in 10 case reports and a retrospective review are presented. Auricular arteriovenous malformation can manifest as swelling of the ear, pulsatile tinnitus, pain, and/or bleeding. On physical examination, a pulsatile swelling and/or a tender mass is evident. When arteriovenous malformation is suspected, the lesions should be visualized using imaging modalities that optimally detect vascular lesions, and managed via embolization, mass excision, or auricular resection. Effectiveness of the various diagnostic methods used and the treatment outcomes were analyzed. Results: Various imaging modalities including Doppler sonography, computed tomographic angiography, magnetic resonance angiography, and/or transfemoral cerebral angiography were used to diagnose 38 cases reported in the literature. In another 15 cases, no imaging was performed; treatment was determined solely by physical examination and auscultation. Of the total of 53 cases, 12 were not treated (their symptoms were merely observed whereas 20 underwent therapeutic embolization. In total, 32 patients, including 1 patient who was not treated and 10 with persistent or aggravated

  15. Usher syndrome associated with a variant of Dandy-Walker malformation.

    Science.gov (United States)

    Simsek, Tulay; Ozdamar, Yasemin; Simsek, Enver; Men, Gamze

    2010-05-21

    Three cases of Usher syndrome associated with a variant of Dandy-Walker malformation in three siblings from consanguineous Turkish parents are described. The siblings had retinitis pigmentosa and hearing loss. Two of the siblings also had mental retardation, which is not a constant finding in Usher syndrome. Dandy-Walker malformation might have contributed to the mental retardation in two of these patients and might be a coincidental finding with Usher syndrome. Copyright 2010, SLACK Incorporated.

  16. Amplatzer vascular plugs in congenital cardiovascular malformations

    Directory of Open Access Journals (Sweden)

    Parag Barwad

    2013-01-01

    Full Text Available Background: Amplatzer vascular plugs (AVPs are devices ideally suited to close medium-to-large vascular communications. There is limited published literature regarding the utility of AVPs in congenital cardiovascular malformations (CCVMs. Aims: To describe the use of AVPs in different CCVMs and to evaluate their safety and efficacy. Materials and Methods: All patients who required an AVP for the closure of CCVM were included in this retrospective review of our catheterization laboratory data. The efficacy and safety of AVPs are reported. Results: A total of 39 AVPs were implanted in 31 patients. Thirteen (33% were AVP type I and 23 (59% were AVP type II. AVP type III were implanted in two patients and type IV in one patient. The major indications for their use included closure of pulmonary arteriovenous malformation (AVM (n = 7, aortopulmonary collaterals (n = 7, closure of a patent Blalock-Taussig shunt (n = 5, systemic AVM (n = 5, coronary AVM (n = 4, patent ductus arteriosus (PDA (n = 3, pulmonary artery aneurysms (n = 3, and venovenous collaterals (n = 2. Deployment of the AVP was done predominantly via the 5 - 7F Judkin′s right coronary guide catheter. Overall 92% of the AVPs could be successfully deployed and resulted in occlusion of the target vessel in all cases, within 10 minutes. No procedure-related or access site complication occurred. Conclusions: AVPs are versatile, easy to use, and effective devices to occlude the vascular communications in a variety of settings. AVP II is especially useful in the closure of tubular structures with a high flow.

  17. Arteriovenous malformations of the cervical spinal cord

    International Nuclear Information System (INIS)

    Nagasawa, Shiro; Yoshida, Shinzo; Ishikawa, Masatsune; Yonekawa, Yasuhiro; Handa, Hajime

    1984-01-01

    Arteriovenous malformation (AVM) of the cervical spinal cord has been known to constitute 5-13% of all spinal AVMs. In contrast to the AVMs located in thoracic or thoraco-lumbar regions, cervical AVM has several characteristic features such as preponderance in younger generation, high incidence of subarachnoid hemorrhage, intramedullary location of the nidus usually fed by the anterior spinal arterial system. We reported three cases of cervical AVMs, which located intramedullary at the levels of C 4 -C 6 , C 1 -C 4 and C 1 -C 2 , respectively. Although selective angiography (vertebral artery, thyrocervical artery, costocervical artery) was essential for the diagnosis of these lesions, computerized tomographic (CT) study with both intrathecal injection of metrizamide and intravenous infusion of contrast material (dynamic and static study) was found to be extremely advantageous in detecting the topography of AVMs in the concerned horizontal planes of the spinal cord. Removal of AVM was given up in one case because of its possible involvement of the anterior spinal artery and central artery shown by CT scan. Removal of AVMs were performed in other two cases. A lateral approach was tried in one case with the AVM located in C 1 -C 2 level, in which CT scan revealed not only an intramedullary but the associated extramedullary AVM in ventrolateral surface of the spinal cord. This operative approach was found to involve less bone removal and markedly reduce spinal cord manipulation necessary to deal with ventrally situated high cervical lesions, compared with a posterior approach with laminectomy. (author)

  18. Genetics Home Reference: megalencephaly-capillary malformation syndrome

    Science.gov (United States)

    ... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke: Megalencephaly Educational Resources (5 links) Boston Children's Hospital: Capillary Malformation Cincinnati Children's Hospital: Capillary Malformations ...

  19. Fetal chromosome abnormalities and congenital malformations: an ...

    African Journals Online (AJOL)

    The results also showed that Multiple congenital anomalies (MCA) represented among 42.2%, congenital malformation of CNS represents 26.6%, congenital malformation of the skeletal system 20%, congenital polycystic kidney 8.8% and pyloric stenosis in 2.2%. Among the 21 women with abnormal karyotype of amniotic ...

  20. Congenital malformations among newborns in Kenya | Muga ...

    African Journals Online (AJOL)

    Therefore, a study was conducted to determine the patterns and incidence of congenital malformations at birth in newborns in Kenya and thereby analyze associated predisposing factors in their mothers. This single cross-sectional ... followed by malformations of the central nervous system (28.6%). Polydactyl was the most ...