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Sample records for syndrome infant presenting

  1. Presentation and survival of prehospital apparent sudden infant death syndrome.

    Science.gov (United States)

    Smith, Matthew P; Kaji, Amy; Young, Kelly D; Gausche-Hill, Marianne

    2005-01-01

    Prehospital providers are often involved in the resuscitation of apparent sudden infant death syndrome (SIDS) victims; however, data are few on the presentation and outcome of these patients. To describe the presentation and determine the survival rate of infants who have an unwitnessed, prehospital arrest consistent with SIDS (apparent SIDS), and to compare the presentation of infants with a final diagnosis of SIDS with those who presented as apparent SIDS but had a different final diagnosis. This was a secondary analysis of data from a controlled trial whose methodology has been previously described. The setting was two large, urban emergency medical services (EMS) systems of Los Angeles and Orange Counties, California. The population included 113 apparent SIDS victims from the original interventional study who had a prehospital, unwitnessed arrest consistent with SIDS, defined by the scenario of an infant aged =12 months being placed to sleep and later found in full arrest (pulseless and apneic). Data collected included ethnicity, gender, arrest etiology, signs of death (lividity, rigor mortis), prehospital interventions, return of spontaneous circulation (ROSC), arrest rhythm, code 3 transport (lights and sirens), and survival to hospital discharge. One hundred ten of 113 apparent SIDS patients had survival data; 0 of 110 (95% CI 0% to 3.3%) survived, although ROSC was achieved in 5%; for three patients data on survival were missing. Arrest rhythms were determined in 94% of the subjects: asystole 87%, pulseless electrical activity (PEA) 8%, and ventricular fibrillation 4%. Only 50 of 113 (44%) of the EMS records documented code 3 transport; the remainder of the records were ambiguous. SIDS was the final coroner's diagnosis for 79 of 113 (70%) of the cases. Other causes of death in these apparent SIDS victims included respiratory causes (12%), asphyxiation (3%), abuse (2%), congenital heart disease (2%), sepsis (2%), other (4%), and unknown (5%). Apparent SIDS

  2. Primary presentation of Jeune's syndrome as gastric motility disorder in an infant: A case report

    Directory of Open Access Journals (Sweden)

    Amit Katyan

    2018-01-01

    Full Text Available We report a case of a 4-week-old female neonate with Jeune's asphyxiating thoracic dystrophy (JATD and coexistent situs anomaly, primarily presenting as gastric motility disorder. The child presented with abdominal distension and nonbilious vomiting since birth with failure to thrive. However, skeletal survey revealed JATD. Upper gastrointestinal contrast study showed situs inversus with delayed gastric emptying. Pyloric biopsy and intraoperative antro-duodenal manometry confirmed association of gastric motility disorder. Awareness of the unusual possibility of primary presentation of Jeune syndrome as gastric motility disorder will improve the management approach in such infants.

  3. Hemorrhagic gianotti-crosti syndrome in a one and half month old infant: An extremely unusual presentation

    Directory of Open Access Journals (Sweden)

    Nilendu Sarma

    2013-01-01

    Full Text Available Gianotti-Crosti syndrome is parainfectious exanthematous disease having unique presentation of small papulovesicular eruptions symmetrically over extensor surface of limbs and face in children. Hemorrhagic lesions are very rare and are always localized. Here, a case of EBV-induced Gianotti-Crosti syndrome with extensive hemorrhagic vesicles in a one and half month old infant, possibly induced by Epstein Barr virus, is reported. Neither the involvement of the disease at this early age nor the extensive hemorrhagic vesicles as the predominant presentation is reported before.

  4. A Neonate with Susceptibility to Long QT Syndrome Type 6 who Presented with Ventricular Fibrillation and Sudden Unexpected Infant Death

    Science.gov (United States)

    Sauer, Charles W.; Marc-Aurele, Krishelle L.

    2016-01-01

    Patient: Female, 19-day Final Diagnosis: 19 day old neonate with susceptibility to Long QT syndrome • ventricular fibrillation Symptoms: Cardiac arrest • cardiac arrhythmia • encephalopathy Medication: — Clinical Procedure: Cardioversion Specialty: Pediatrics and Neonatology Objective: Rare disease Background: This is a case of a neonate with susceptibility to long QT syndrome (LQTS) who presented with a sudden unexpected infant death. Experts continue to debate whether universal electrocardiogram (ECG) screening of all newborns is feasible, practical, and cost-effective. Case Report: A 19-day-old neonate was found unresponsive by her mother. ECG showed ventricular fibrillation and a combination of a lidocaine drip plus multiple defibrillations converted the rhythm to normal sinus. Unfortunately, MRI brain imaging showed multiple infarcts and EEG showed burst suppression pattern with frequent seizures; life supportive treatment was stopped and the infant died. Genetic testing revealed two mutations in the KCNE2 gene consistent with susceptibility to LQTS type 6. Conclusions: We believe this case is the first to demonstrate both a precipitating electrocardiographic and genetic cause of death for an infant with LQTS, showing a cause-and-effect relationship between LQTS mutation, ventricular arrhythmia, and death. We wonder whether universal ECG newborn screening to prevent LQTS death could have saved this baby. PMID:27465075

  5. [Cytomegalovirus: congenital infection and clinical presentation in infants with respiratory distress syndrome].

    Science.gov (United States)

    Martínez-Contreras, Angélica; Lira, Rosalía; Soria-Rodríguez, Carmen; Hori-Oshima, Sawako; Maldonado-Rodríguez, Angélica; Rojas-Montes, Othón; Ayala-Figueroa, Rafael; Estrada-Guzmán, Julia; Álvarez-Muñoz, Ma Teresa

    2015-01-01

    Respiratory distress syndrome (RDS) is a multifactorial and common disease that varies from 15 to 50 % in the newborn, causing 50 % of mortality. The RDS may be associated with bacterial and viral infections, and one of the most common viral agents is the cytomegalovirus (CMV). In the neonatal period the virus incidence goes from 0.4 to 2.5 % with a seroprevalence of 50 to 75 %; the incidence of infection in newborn with RDS is unknown. The objective was to determine the frequency of CMV infection in neonates with RDS and identify the risk factors associated with infection. The CMV-DNA was identified in plasma by quantitative PCR; maternal and neonatal variables that defined the clinical findings were analyzed by logistic regression.The CMV-DNA was identified in plasma by quantitative PCR; maternal and neonatal variables that defined the clinical findings were analyzed by logistic regression. The frequency of CMV infection in 197 infants with RDS was 8.6 % (95 % CI, 4.7-12.5). The significant variables in newborn were: neutropenia (p = 0.012), thrombocytopenia (p = 0.021), mottled skin (p = 0.03), and the maternal significant variable was cervicovaginitis (p = 0.05). We reported for the first time the highest frecuency of CMV infection in newborns with RDS and the association of various risk factors with CMV infection.

  6. The nasogastric tube syndrome in infants.

    Science.gov (United States)

    Harmon, Jeffrey; Balakrishnan, Karthik; de Alarcon, Alessandro; Hart, Catherine K

    2014-05-01

    This series of three patients is the first description of the presentation, clinical course, and endoscopic findings of nasogastric tube-related airway distress, or nasogastric tube syndrome, in infants. We identify key differences in disease features from those described in adults, based on our literature review. Specifically, infant nasogastric tube syndrome presented as significant respiratory distress and postcricoid inflammation without vocal fold immobility. Symptoms resolved more quickly (mean±SD, 2±1 days) than reported in adults. We suggest that nasogastric tube syndrome should be considered in infants with otherwise unexplained respiratory distress, even in the absence of impaired vocal fold mobility. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  7. Pulmonary hyperinflation and emphysema in infants with the Marfan syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Dominguez, R.; Weisgrau, R.A.; Santamaria, M.

    1987-07-01

    Little recognition has been given to the pulmonary manifestations of the Marfan syndrome especially in infants. We report four cases of Marfan's syndrome presenting in infancy with respiratory abnormalities and a common radiographic picture of emphysema.

  8. Pulmonary hyperinflation and emphysema in infants with the Marfan syndrome

    International Nuclear Information System (INIS)

    Dominguez, R.; Weisgrau, R.A.; Santamaria, M.

    1987-01-01

    Little recognition has been given to the pulmonary manifestations of the Marfan syndrome especially in infants. We report four cases of Marfan's syndrome presenting in infancy with respiratory abnormalities and a common radiographic picture of emphysema. (orig./MG)

  9. Four infants presenting with severe vomiting in solid food protein-induced enterocolitis syndrome: a case series

    Directory of Open Access Journals (Sweden)

    Bansal Amolak S

    2012-06-01

    Full Text Available Abstract Introduction Several different foods have been implicated in inducing the delayed and very significant vomiting and sometimes diarrhea that occurs in food protein-induced enterocolitis syndrome. While immunoglobulin E is not involved, the mechanism(s that result in the food-induced gastrointestinal symptoms are unclear, although T cell activation has been considered. We report four cases of food protein-induced enterocolitis syndrome caused by different solid foods and without concomitant immunoglobulin E sensitization to milk and soya. Clinical and laboratory evidence of type I immunoglobulin E mediated food reactivity and food-induced T cell activation was absent in each case. Case presentations Case 1 concerned a 20-month-old South Asian boy who had experienced four episodes of severe vomiting with flaccidity since four months of age and two hours after consuming rice. Case 2 involved a nine-month-old Caucasian boy who had suffered three episodes of severe vomiting with flaccidity since six months of age and three hours after consuming wheat. The child in Case 3 was a 16-month-old Caucasian boy who had suffered three episodes of severe vomiting with flaccidity since nine months of age and two hours after consuming cod. Case 4 involved a 15-month-old South Asian boy who had suffered three episodes of severe vomiting since eight months of age and two hours after consuming chicken. Conclusion In children with recurrent marked delayed vomiting after the ingestion of specific foods and in whom bronchospasm, skin rash and angioedema are absent, food protein-induced enterocolitis syndrome should be considered. Skin prick testing and specific immunoglobulin E antibodies are negative and the mechanism of the vomiting is unclear. We speculate whether food protein-induced oligoclonal T cell activation may be present. This has similarities to various animal models and improvement may involve deletion of these T cells.

  10. Treatment outcomes of West syndrome in infants with Down syndrome.

    Science.gov (United States)

    Sanmaneechai, Oranee; Sogawa, Yoshimi; Silver, Wendy; Ballaban-Gil, Karen; Moshé, Solomon L; Shinnar, Shlomo

    2013-01-01

    West syndrome constitutes the most frequent of all seizure types in infants with Down syndrome. We retrospectively reviewed records of 12 infants with Down syndrome and West syndrome, accounting for 5% of 239 infants with West syndrome from a comprehensive epilepsy database during a 17-year period. All demonstrated classic hypsarrhythmia on video electroencephalograms. One had clinically responded to clonazepam, and one was not treated because the parents refused any treatment. Seven of 10 infants demonstrated a complete response to high-dose natural adrenocorticotrophic hormone. Four (57%) of these seven infants relapsed. Relapses occurred as long as 2 years after cessation of the initial presentation of infantile spasms. At most recent follow-up (median age, 5 years), 8/12 (67%) were seizure-free, and seven were off any medications. Two of three nonresponders manifested intractable epilepsy and profound mental retardation. Developmentally, 6/8 who could be assessed met criteria for autistic spectrum disorder. Close follow-up is necessary even after successful initial treatment, because relapses are frequent and can occur as long as 2 years later. Copyright © 2013 Elsevier Inc. All rights reserved.

  11. Haemolytic Uraemic Syndrome In Nigerian Infants | Emokpae ...

    African Journals Online (AJOL)

    Diarrhoea is one of the major causes of hospitalization, morbidity and mortality in children. Haemolytic uraemic syndrome (HUS) may occur as one of the complications associated with diarrhoea in acute gastroenteritis. Objectives: The objective of this study is to present laboratory evidence of HUS in hospitalized infants with ...

  12. Mutations in Genes Encoding Cardiac Ion Channels Previously Associated With Sudden Infant Death Syndrome (SIDS) Are Present With High Frequency in New Exome Data

    DEFF Research Database (Denmark)

    Andreasen, Charlotte Hartig; Refsgaard, Lena; Nielsen, Jonas B

    2013-01-01

    Sudden infant death syndrome (SIDS) is the leading cause of death in the first 6 months after birth in the industrialized world. The genetic contribution to SIDS has been investigated intensively and to date, 14 cardiac channelopathy genes have been associated with SIDS. Newly published data from...

  13. Conns' syndrome - atypical presentations

    International Nuclear Information System (INIS)

    Kumar, K V S Hari; Modi, K D; Jha, Sangeeta; Jha, Ratan

    2009-01-01

    Primary hyperaldosteronism (Conns' syndrome) commonly presents with a combination of clinical features of hypokalemia and hypertension. Atypical presentations like normotension, normokalemia and neurological ailments are described in few cases. We encountered two such cases, the first presenting with acute neurological complaint and second case having insignificant hypertension. Both the patients had a characteristic biochemical and imaging profile consistent with primary hyperaldosteronism and responded to surgical resection of adrenal adenoma. (author)

  14. Unusual presentation of Klinefelter syndrome

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    Das, Chanchal; Sahana, Pranab Kumar; Sengupta, Nilanjan; Roy, Mukut; Dasgupta, Ranen

    2013-01-01

    Introduction: Klinefelter syndrome usually presents in the puberty and adulthood with its characteristic features. We report a boy who had Klinefelter syndrome with hypospadias and hydrocele. Case Note: Six and half year old boy had complaints of genitourinary problem in the form of hypospadias, small phallus and hydrocele. Karyotyping showed 47,XXY. Conclusion: This case illustrates that Klinefelter syndrome was presented in the infancy with hypospadias and hydrocele which are very uncommon presentation of the disease PMID:24910838

  15. Atypical presentations of Wolframs syndrome

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    S Saran

    2012-01-01

    Full Text Available Background: Wolfram syndrome is a rare hereditary or sporadic neurodegenerative disorder also known as DIDMOAD. The classically described presentation is of insulin-dependent diabetes, followed by optic atrophy, central diabetes insipidus, and sensory neural deafness. Also included are less well-described presentations of Wolframs syndrome. We here present three cases of atypical presentation of this syndrome. Case 1: A 15-year-old boy with insulin-dependent diabetes was presented for evaluation of depressive symptoms associated with suicidal tendency. Neuropsychiatric manifestations are described with Wolframs syndrome, and wolframin gene, in recessive inheritance, is associated with psychiatric illnesses without other manifestations of Wolframs syndrome. Case 2: A 17-year-old diabetic boy on insulin with good control of blood sugar presented for evaluation of delayed puberty. Central hypogonadism and other anterior pituitary hormone dysfunctions are the less publicized hormone dysfunctions in Wolframs syndrome. Case 3: A 23-year-old female who was on insulin for diabetes for the past 14 years, got admitted for evaluation of sudden loss of vision. This patient had developed a vitreous hemorrhage and, on evaluation, was found to have optic atrophy, sensory neural hearing loss, and diabetes insipidus, and presented differently from the gradual loss of vision described in Wolframs syndrome. Conclusion: Wolframs syndrome being a multisystem degenerative disorder can have myriad other manifestations than the classically described features. Neuropsychiatric manifestations, depression with suicidal risk, central hypogonadism, and secondary adrenal insufficiency are among the less well-described manifestations of this syndrome.

  16. Cardiac channelopathies and sudden infant death syndrome

    DEFF Research Database (Denmark)

    Tfelt-Hansen, Jacob; Winkel, Bo Gregers; Grunnet, Morten

    2011-01-01

    Sudden infant death syndrome (SIDS) is always a devastating and unexpected occurrence. SIDS is the leading cause of death in the first 6 months after birth in the industrialized world. Since the discovery in 1998 of long QT syndrome as an underlying substrate for SIDS, around 10-20% of SIDS cases...

  17. Otolaryngological aspects of sudden infant death syndrome.

    Science.gov (United States)

    Marom, Tal; Cinamon, Udi; Castellanos, Paul F; Cohen, Marta C

    2012-03-01

    Sudden infant death syndrome (SIDS) is characterized by the sudden death of an apparently otherwise healthy infant, typically during sleep, and with no obvious case after a thorough post-mortem and scene death examination. To address the problem from the otolaryngologist's perspective, describe relevant pathologies, discuss controversies and suggest preventive measures in high-risk populations. A MEDLINE search and hand search were conducted to identify reports published between 1969 and 2011 in the English language on the pathophysiology of SIDS related to the head and neck organs. Search terms included SIDS (MeSH term), SIDS and pathophysiology (text words), and SIDS and autopsy (text words). A growing number of reports suggested head and neck organs involvement in SIDS autopsies. Laryngeal, oropharyngeal, maxillofacial, otologic, cervical vascular abnormalities and infectious etiologies, were recognized and discussed. Otolaryngologists should be aware of relevant pathologies, as some are treatable, if identified early enough in infancy. A proactive risk-management approach is warranted in infants presenting with certain abnormalities reviewed here. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  18. Infant Development in Fragile X Syndrome: Cross-Syndrome Comparisons

    Science.gov (United States)

    Roberts, Jane E.; McCary, Lindsay M.; Shinkareva, Svetlana V.; Bailey, Donald B., Jr.

    2016-01-01

    This study examined the developmental profile of male infants with fragile X syndrome (FXS) and its divergence from typical development and development of infants at high risk for autism associated with familial recurrence (ASIBs). Participants included 174 boys ranging in age from 5 to 28 months. Cross-sectional profiles on the Mullen Scales of…

  19. Febrile convulsions and sudden infant death syndrome

    DEFF Research Database (Denmark)

    Vestergaard, Mogens; Basso, Olga; Henriksen, Tine Brink

    2002-01-01

    It has been suggested that sudden infant death syndrome (SIDS) and febrile convulsions are related aetiologically. We compared the risk of SIDS in 9877 siblings of children who had had febrile convulsions with that of 20.177 siblings of children who had never had febrile convulsions. We found...

  20. [Caplan's syndrome: rarely presenting as syndrome].

    Science.gov (United States)

    Nowak, Albina; Göhner, Katja; Cohen, Clemens D

    2014-02-26

    A 59-year-old man complained about having dry cough for months and a recent sudden onset of minor hemoptoe, asymmetric arthritis, myalgia as well as lack of appetite. He presented an occupational history of 12-year exposure to an organic dust as uranium miner in German Democratic Republic followed by 21 years as heavy construction worker in Germany and in Switzerland. Laboratory work-up tested positive for microhematuria and anti-neutrophilic cytoplasmic antibodies (ANCA). Chest X-rays and CT scan showed bilaterally scattered nodules. Thoracoscopic wedge resection was performed, histopathological analysis revealed granuloma with central necrotic area containing black coal dust and silica depositions surrounded by histiocytes. The pulmonary opacities on X-ray and the typical histology in the light of significant dust exposure allow the diagnosis of a Caplan's syndrome. The symptoms improved rapidly under steroid therapy. Further investigations revealed a clear renal cell carcinoma as a cause for the persistent microhematuria. Rheumatoid arthritis, pulmonary nodules and history of prolonged dust exposure are classical findings that define Caplan's syndrome. These patients present with different immunological phenomena - in our case ANCA-positivity without vasculitis. Interestingly, the renal cell carcinoma which led to the "pulmorenal" syndrome in our patient is another health problem overrepresented in uranium mine workers.

  1. A Study of Auditory Preferences in Nonhandicapped Infants and Infants with Down's Syndrome.

    Science.gov (United States)

    Glenn, Sheila M.; And Others

    1981-01-01

    Eleven infants with Down's syndrome and 10 of 11 nonhandicapped infants operated an automatic device which enabled them to choose to listen to nursery rhymes sung or played on musical instruments. Both groups preferred the singing, and the Down's Syndrome infants had much longer response durations for the more complex auditory stimuli. (Author/DB)

  2. Rare presentation of AICA syndrome.

    Science.gov (United States)

    Shabbir, Syed H; Nadeem, Faryal; Labovitz, Daniel

    2018-01-23

    We report a rare presentation of an anterior inferior cerebellar artery (AICA) infarct in a 74-year-old woman with acute-onset nausea, vomiting, vertigo and gait instability long before the full onset of symptoms and a negative MRI on admission. Over the next several days the patient developed left facial weakness, numbness, hypoacusis, and limb and gait ataxia, and was found to have acute infarcts of the left pons and cerebellar peduncle consistent with an AICA syndrome. We discuss this rare stepwise presentation in AICA syndrome and possible underlying pathophysiology. Such patients at risk for cerebrovascular disease should undergo a careful history, exam and follow-up, even with negative MRI findings, as their symptoms may precede a serious vascular event. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  3. Heart Activity and Autistic Behavior in Infants and Toddlers with Fragile X Syndrome

    Science.gov (United States)

    Roberts, Jane E.; Tonnsen, Bridgette; Robinson, Ashley; Shinkareva, Svetlana V.

    2012-01-01

    The present study contrasted physiological arousal in infants and toddlers with fragile X syndrome to typically developing control participants and examined physiological predictors early in development to autism severity later in development in fragile X syndrome. Thirty-one males with fragile X syndrome (ages 8-40 months) and 25 age-matched…

  4. Chryseobacterium gleum pneumonia in an infant with nephrotic syndrome

    OpenAIRE

    Abdalhamid, Baha; Elhadi, Nasreldin; Alsamman, Khaldoon; Aljindan, Reem

    2016-01-01

    Introduction: Chryseobacterium gleum is commonly distributed in the environment. It can cause a wide variety of infections in immunocompromised patients in hospital setting. Case presentation: A 6 month old infant with nephrotic syndrome was admitted to the emergency room for an acute onset of fever, difficulty breathing, cyanosis, and low oral intake. Cultures of endotracheal tube specimens were positive for Chryseobacterium gleum which was confirmed by ribosomal sequencing. The organism ...

  5. White monkey syndrome in infant baboons (Papio species).

    Science.gov (United States)

    Frost, P A; Hubbard, G B; Dammann, M J; Snider, C L; Moore, C M; Hodara, V L; Giavedoni, L D; Rohwer, R; Mahaney, M C; Butler, T M; Cummins, L B; McDonald, T J; Nathanielsz, P W; Schlabritz-Loutsevitch, N E

    2004-08-01

    Over 23 months, zinc toxicosis was diagnosed in 35 baboons aged 5-12 months in one galvanized metal and concrete cage complex with conditions that led to excessive exposure to environmental zinc. Clinical signs included reduced pigmentation of hair, skin, and mucous membranes (whiteness), alopecia, dehydration, emaciation, cachexia, dermatitis, diarrhea and, in six cases, severe gangrenous dermatitis of extremities. The syndrome was characterized by pancytopenia, elevated zinc and low copper serum concentrations, low vitamin D and bone-specific alkaline phosphatase levels, and atypical myelomonocytic proliferation of bone marrow. This syndrome emphasizes the importance of proper husbandry and cage design and indicates the potential of infant baboons as a model to study the effects of excessive zinc on development. This is the first report describing the epidemiologic and clinical presentation of zinc toxicosis in infant baboons in captivity.

  6. Phrenic nerves and diaphragms in sudden infant death syndrome.

    Science.gov (United States)

    Weis, J; Weber, U; Schröder, J M; Lemke, R; Althoff, H

    1998-01-30

    Disturbances of the respiratory system may be an important factor in the cascade of events leading to sudden infant death syndrome (SIDS). Even though the diaphragm is the major respiratory muscle in infants, little is known about alterations of this muscle and of the phrenic nerve in SIDS. In the present study, diaphragms and phrenic nerves of 24 SIDS infants and seven controls were analyzed. Morphometric analysis revealed only slightly larger cross sectional areas of phrenic nerve axons but no increase in myelin sheath thickness in SIDS cases. However, in one SIDS case, myelinated nerve fibre density was severely reduced. Using electron microscopy, several nerve fibres of SIDS infants showed focal accumulations of neurofilaments. Muscle fibre diameters in SIDS diaphragms were significantly larger compared to controls (P fibre ruptures and contracture bands were found. These prominent nonspecific ultrastructural alterations should advise caution in the interpretation of morphometric data. Thus, in some cases exemplified by one case of the present series, decreased density of phrenic nerve myelinated axons might contribute to SIDS. Still, the present results indicate that development of phrenic nerves and diaphragms is not delayed in most SIDS infants.

  7. Sudden infant death syndrome (SIDS)--standardised investigations and classification

    DEFF Research Database (Denmark)

    Bajanowski, Thomas; Vege, Ashild; Byard, Roger W

    2007-01-01

    Sudden infant death syndrome (SIDS) still accounts for considerable numbers of unexpected infant deaths in many countries. While numerous theories have been advanced to explain these events, it is increasingly clear that this group of infant deaths results from the complex interaction of a variety...

  8. Waardenburg syndrome presenting with constipation since birth.

    Science.gov (United States)

    Gupta, R; Sharma, S B; Mathur, P; Agrawal, L D

    2014-12-01

    Shah-Waardenburg syndrome is Waardenburg syndrome associated with Hirschsprung's disease. A 10-day-old full-term male neonate of Waardenburg syndrome presented with constipation since birth along with features of small bowel obstruction. Exploratory laparotomy revealed distended proximal jejunal and ileal loops along with microcolon; an ileostomy was performed. Postoperatively patient developed sepsis and died. Histopathology confirmed total colonic aganglionosis. Suspect familial Shah-Waardenburg syndrome in a neonate of Waardenburg syndrome presenting with constipation since birth or intestinal obstruction.

  9. Prolonged Ileus in an Infant Presenting with Primary Congenital Hypothyroidism

    Directory of Open Access Journals (Sweden)

    Caroline Chua

    2015-01-01

    Full Text Available Congenital hypothyroidism (CH is the most common endocrine disorder affecting the newborn. Universal newborn screening (NBS has virtually eliminated the static encephalopathy and devastating neurodevelopmental syndrome known as cretinism. This report describes the presentation of an infant referred by the primary pediatrician to our hospital at 12 days of age for confirmatory testing after the NBS was consistent with CH. The infant had hypoglycemia secondary to lethargy and poor feeding and required transfer to the neonatal intensive care unit for worsening abdominal distension despite normalization of serum thyroid function tests following hormone replacement. In particular, the recalcitrant ileus and secondary bowel obstruction resulted in an additional diagnostic workup and lengthened hospital day. Our report highlights the acute gastrointestinal consequences of hypothyroidism despite evidence of effective treatment. We believe that the preclinical detection and immediate therapy for CH have lessened the prevalence of this presentation in general practice, and hence practitioners are less likely to be familiar with its natural history and management.

  10. Sudden Infant Death Syndrome and Left Ventricular Hypertrabeculation-Hidden Arrhythmogenic Entity?

    Directory of Open Access Journals (Sweden)

    G. Saayman

    2010-09-01

    Full Text Available Left ventricular noncompaction/hypertrabeculation is a condition which is characterized by a highly trabeculated, “spongy” myocardium. It can present at any age with heart failure, arrhythmia and/or thromboembolic events. A wide variety of mutations have been found to be a cause of hypertrabeculation and it is possible that there is a continuum of hypertrophic cardiomyopathy, dilated cardiomyopathy and hypertrabeculation/noncompaction. We present a case of left ventricular hypertrabeculation which presented as sudden infant death syndrome and we propose that this entity may be a hidden cause of arrhythmic death in some infants presenting as sudden infant death syndrome.

  11. Description of the motor development of 3-12 month od infants with Down Syndrome

    NARCIS (Netherlands)

    Tudella, E.; Pereira, K.; Pedronongo Basso, R.; Savelsbergh, G.J.P.

    2011-01-01

    The purpose of the present study was to describe the rate of motor development in infants with Down syndrome in the age range of 3-12 months and identify the difficulties both in performance and acquiring motor skills in prone, supine, sitting and standing positions. Nineteen infants with Down

  12. Infant Boy with Microcephaly Gastroesophageal Refl ux and Nephrotic Syndrome (Galloway-Mowat Syndrome): A Case Report.

    Science.gov (United States)

    Malaki, Majid; Rafeey, Mandana

    2012-01-01

    In this case report, we present the first diagnosed case of Galloway-Mowat syndrome in Iran. A 7 month old infant boy withmicrocephaly that had prominently stunted head growth afterbirth, gastroesophageal reflux, multiple craniofascial characters,hypothyroidism and nephrotic syndrome diagnosed at 5 monthsof age associated with rapid decline in renal function and heavyproteinuria in 2 months .

  13. Neurocysticercosis presenting as Millard Gubler syndrome

    Directory of Open Access Journals (Sweden)

    Rajniti Prasad

    2012-01-01

    Full Text Available Neurocysticercosis is a common childhood neurological illness in India. A variety of presentations have been reported in the literature, including weber syndrome. Neurocysticercosis, manifesting as Millard Gubler syndrome, have not been reported in literature. Therefore, we report a child presented to us with Millard Gubler syndrome due to pontomedullary neurocysticercosis and was treated successfully.

  14. Posterior reversible encephalopathy syndrome presenting as Balint syndrome.

    Science.gov (United States)

    Kumar, Sunil; Abhayambika, Archana; Sundaram, Arun N E; Sharpe, James A

    2011-09-01

    Balint syndrome is a disorder of inaccurate visually guided saccades, optic ataxia, and simultanagnosia that typically results from bilateral parieto-occipital lesions. Visual perception disturbances in the posterior reversible encephalopathy syndrome (PRES) include hemianopia, visual neglect, and cerebral blindness, but Balint syndrome had not been recognized. We report Balint syndrome associated with PRES in a 37-year-old woman with acute hypertension and systemic lupus erythematosus. Balint syndrome can be an initial presentation of PRES.

  15. Sudden infant death syndrome: are we any closer to identifying which infants will be affected?

    Directory of Open Access Journals (Sweden)

    Ramirez TL

    2013-03-01

    Full Text Available Tara L Ramirez, Michael H MalloyDepartment of Pediatrics, The University of Texas Medical Branch, Galveston, TX, USAAbstract: Sudden infant death syndrome is a complex and multifactoral process. The classification and definition of the syndrome has changed over time. As knowledge in the genetics of this complex syndrome continues to advance, additional causes of vulnerability have been found, but no single cause has yet been discovered. Over the last 40 years there have also been many advances in the identification of risk factors that make a given infant more vulnerable to succumbing to sudden infant death. There have also been great strides made in decreasing the number of infant deaths from this syndrome by modification of these risk factors, most notably with the initiation of the Back to Sleep campaign. With the initiation of the Safe to Sleep campaign there is hope that sudden infant death syndrome as a component of all sudden unexpected infant deaths can be further reduced.Keywords: sudden infant death syndrome, sudden unexpected death of infancy, risk factors, sleep-related infant death, crib death, cot death

  16. Sudden infant death syndrome and weather temperature.

    Science.gov (United States)

    Mitchell, E A; Stewart, A W; Cowan, S F

    1992-01-01

    The relationship between the days on which sudden infant death syndrome (SIDS) occurred and the daily minimum temperature was examined in Auckland (1979-1984) and Christchurch (1979-1987). There was a marked winter excess of deaths in both regions. There was a significant negative correlation between the monthly mean minimum temperature and SIDS rate for both regions (r = -0.43, n = 347, P less than 0.0001). The monthly mean minimum temperature describes SIDS mortality equally as well as the three variables of daily minimum temperature, season and geographical location. There was a significant association of SIDS with minimum temperature 4 and 5 days prior to the death after adjusting for the effect of monthly mean minimum temperature. The days preceding death were on average colder than the other days, but the effect was small, especially when compared with the magnitude of the temperature differences between consecutive months.

  17. How Do Object Size and Rigidity Affect Reaching and Grasping in Infants with Down Syndrome?

    Science.gov (United States)

    de Campos, Ana Carolina; Francisco, Kelly Regina; Savelsbergh, Geert J. P.; Rocha, Nelci Adriana Cicuto Ferreira

    2011-01-01

    Reaching and grasping skills have been described to emerge from a dynamic interaction between intrinsic and extrinsic factors. The purpose of the present study was to investigate the interaction between such an intrinsic factor, Down syndrome, and extrinsic factors, such as different object properties. Seven infants with Down syndrome and seven…

  18. Early Onset Hepatocellular Disease in an Infant with Zellweger Syndrome

    Directory of Open Access Journals (Sweden)

    Mehri Najafi Sani

    2015-10-01

    Full Text Available Zellweger syndrome (ZS is a peroxisomal disorder with a multiple congenital anomalies, characterized by stereotypical facies, profound hypotonia, organ involvement including cerebral, retinal, hepatic, and renal. Herein, a 3-month-old female with ZS is presented who was referred because of increased liver enzymes (subclinical hepatitis, which was detected in work-up of her neck cyst, severe hypotonia, and abnormal facies. An increased concentration of very long chain fatty acid in lipid profile was detected. ZS should be considered in the list of differential diagnosis in infants with stereotypical phenotype, neurodevelopmental delay, and severe hypotonia in association with liver and other organs involvement.

  19. Chryseobacterium gleum pneumonia in an infant with nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Baha Abdalhamid

    2016-01-01

    Conclusion: To the best of our knowledge, this is the first case of pneumonia caused by Chryseobacterium gleum in an infant with nephrotic syndrome. It is also the first report of C. gleum causing respiratory tract infection in Saudi Arabia.

  20. Sheehan's syndrome presenting as psychosis: a rare clinical presentation

    Science.gov (United States)

    Dar, Mohamand Maqbool; Arif, Tasleem; Bashir, Haamid; Bhat, Mohammad Hayat; Ahmed, Javid

    2013-01-01

    Sheehan's syndrome (SS) refers to the occurrence of varying degree of hypopituitarism after parturition (1). It is a rare cause of hypopituitarism in developed countries owing to advances in obstetric care and its frequency is decreasing worldwide. However, it is still frequent in underdeveloped and developing countries. Sheehan's syndrome is often diagnosed late as it evolves slowly (2,3). Reports of psychoses in patients with Sheehan's syndrome are rare. Herein, a case report of psychosis in a 31 year old woman who developed Sheehan's syndrome preceded by postpartum haemorrhage is presented. Treatment with thyroxine and glucocorticoids resulted in complete remission after attaining euthyroid and eucortisolemic state. PMID:23483784

  1. Cardiac ion channelopathies and the sudden infant death syndrome

    NARCIS (Netherlands)

    Wilders, Ronald

    2012-01-01

    The sudden infant death syndrome (SIDS) causes the sudden death of an apparently healthy infant, which remains unexplained despite a thorough investigation, including the performance of a complete autopsy. The triple risk model for the pathogenesis of SIDS points to the coincidence of a vulnerable

  2. Brief Report: Autism Symptoms in Infants with Fragile X Syndrome

    Science.gov (United States)

    Roberts, Jane E.; Tonnsen, Bridgette L.; McCary, Lindsay M.; Caravella, Kelly E.; Shinkareva, Svetlana V.

    2016-01-01

    Fragile X syndrome (FXS) is the most common known genetic cause of autism spectrum disorder (ASD). Although 50-75% of children with FXS meet ASD criteria, no studies have compared ASD symptoms in infants with FXS versus other high risk groups, such as siblings of children with ASD (ASIBs). Using the Autism Observation Scale for Infants, our…

  3. Prune belly syndrome in an Egyptian infant with Down syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Metwalley Kotb A

    2008-10-01

    Full Text Available Abstract Introduction Prune belly syndrome is a rare congenital anomaly of uncertain aetiology almost exclusive to males. The association between prune belly syndrome and Down syndrome is very rare. Case presentation A 4-month-old Egyptian boy was admitted to our institute for management of acute bronchiolitis. He was born at full term by normal vaginal delivery. His mother, a 42-year-Egyptian villager with six other children, had no antenatal or prenatal care. On examination, the boy was found to be hypotonic. In addition to features of Down syndrome, karyotyping confirmed the diagnosis of trisomy 21. Ultrasound examination of the abdomen showed bilateral gross hydronephrosis with megaureter. Micturating cystourethrography showed grade V vesicoureteric reflux bilaterally with no urethral obstruction. Serum creatinine concentration was 90 μmol/litre, serum sodium was 132 mmol/litre and serum potassium was 5.9 mmol/litre. Conclusion We report an Egyptian infant with Down syndrome and prune belly syndrome. The incidence of this association is unknown. Routine antenatal ultrasonography will help in discovering renal anomalies which can be followed postnatally. Postnatal detection of prune belly syndrome necessitates full radiological investigation to detect any renal anomalies. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

  4. Description of the Motor Development of 3-12 Month Old Infants with Down Syndrome: The Influence of the Postural Body Position

    Science.gov (United States)

    Tudella, Eloisa; Pereira, Karina; Basso, Renata Pedrolongo; Savelsbergh, Geert J. P.

    2011-01-01

    The purpose of the present study was to describe the rate of motor development in infants with Down syndrome in the age range of 3-12 months and identify the difficulties both in performance and acquiring motor skills in prone, supine, sitting and standing positions. Nineteen infants with Down syndrome and 25 healthy full term typical infants were…

  5. Histological findings in unclassified sudden infant death, including sudden infant death syndrome

    NARCIS (Netherlands)

    G. Liebrechts-Akkerman (Germaine); J.V.M.G. Bovée (Judith); L.C.D. Wijnaendts (Liliane); A. Maes (Ann); P.G.J. Nikkels (Peter); R.R. de Krijger (Ronald)

    2013-01-01

    textabstractOur objective was to study histological variations and abnormalities in unclassified sudden infant death (USID), including sudden infant death syndrome (SIDS), in The Netherlands. Two hundred Dutch USID cases between 1984 and 2005 were identified. The histology slides and autopsy reports

  6. Langerhans Cell Histiocytosis in an Infant Mimicking a Lymphoma at Presentation

    Directory of Open Access Journals (Sweden)

    Anjan Madasu

    2015-01-01

    Full Text Available Langerhans cell histiocytosis (LCH is a rare disorder characterized by proliferation and accumulation of clonal dendritic cells with varied clinical presentation and an unpredictable course. We report a 5-month-old infant with LCH who presented with severe respiratory distress, a large mediastinal mass, significant generalized lymphadenopathy, and hepatosplenomegaly. Lymphoma, especially T cell lymphoblastic lymphoma, can present with superior mediastinal syndrome needing urgent empirical therapy without biopsy. However, lack of response prompted a biopsy which confirmed it to be a case of LCH and that leads to appropriate therapy and survival. There have been reports of LCH presenting with isolated mediastinal mass or with generalized lymphadenopathy, but the combined presentation of generalized lymphadenopathy with large mediastinal mass, hepatosplenomegaly, and fever in an infant has rarely been reported. Conclusion. LCH should also be considered in the differential diagnosis of an infant presenting with generalized lymphadenopathy, mediastinal mass, hepatosplenomegaly, and fever.

  7. Poland syndrome: rare presentation in two cases.

    Science.gov (United States)

    Gocmen, Hayrettin; Akkas, Yucel; Doganay, Selim

    2010-08-27

    Poland syndrome was first described in 1840 by Alfred Poland while still a medical student and the other components of the syndrome were described at London Guy's Hospital following the dissection of a cadaver's hand, which had hypoplasia and syndactyly. The incidence of Poland syndrome has been reported to be 1 in 30,000 live births. In the present case report, two Poland syndrome patients with ipsilateral hypomastia and a reduction in the axillary/pectoral hairs diagnosed during adulthood are presented; one patient was affected on the left side and had widespread cafe au lait spots, and the other patient had respiratory dysfunction due to multiple rib anomalies.

  8. Infant dreaming and fetal memory: a possible explanation of sudden infant death syndrome.

    Science.gov (United States)

    Christos, G A

    1995-04-01

    During rapid-eye-movement sleep, when we dream, the brain is thought to be processing stored memory. The memory of a newborn infant is dominated by its fetal experience, and the infant is likely to dream about its life in the womb. Research with lucid (or conscious) dreaming has shown that dream images are supported by the corresponding body actions, using those muscles which remain active during rapid-eye-movement sleep. We suggest that sudden infant death syndrome or cot death may be a result of an infant dreaming about its life (or memory) as a fetus. In the course of that dream, since a fetus does not breathe (in the usual sense) the infant may cease to breathe and may die. This simple hypothesis is consistent with all of the known facts about sudden infant death syndrome (pathological and epidemiological), such as the age at death curve (the observed exponential decay and possibly the peak at 2-3 months), the higher risk with the prone sleeping position (but not excluding the supine position), and the observed climatic variation (seasonal and regional) in the incidence of sudden infant death syndrome. Many of these well-established facts have no other known explanation and other theories can generally only account for a few of the known facts about sudden infant death syndrome. Our hypothesis is also supported by recent findings that, as a group, sudden infant death syndrome infants have a higher proportion of rapid-eye-movement sleep, and also that they have an average higher heart rate (corresponding to possible fetal dreams) but only during rapid-eye-movement sleep.(ABSTRACT TRUNCATED AT 250 WORDS)

  9. Transient abnormal myelopoesis in an infant with Down syndrome

    African Journals Online (AJOL)

    2010-01-13

    Jan 13, 2010 ... syndrome and trisomy 21 mosaicism (1). The majorities of infants with TAM are asymptomatic and picked up incidentally on routine testing. Most cases of TAM resolve over the first few months of life, but 13Á33% may go on to develop AML within the first four years of life. Neonates with Down syndrome are ...

  10. Transient Neonatal Diabetes as a Presentation of Fanconi- Bickel Syndrome

    Directory of Open Access Journals (Sweden)

    Aria Setoodeh

    2012-12-01

    Full Text Available Fanconi- Bickel Syndrome (FBS is a rare type of glycogen storage disease (GSD Characterized by hepatomegaly, proximal renal tubular acidosis (RTA and marked growth retardation. We report a case of FBS presenting with diabetic ketoacidosis and transient neonatal diabetes. A female infant, product of consanguineous marriage presented with diabetic ketoacidosis at age 33 days, and was treated as neonatal diabetes with insulin. At age 14 months, insulin was discontinued. She presented with short stature, hepatomegaly, RTA and hypophosphatemic rickets at age 4 and (FBS was diagnosed. Diagnosis was confirmed by mutation analysis, showing mutation in SLC2 A2 gene. In conclusion,: neonatal diabetes or diabetic ketoacidosis may be the first presentation of infants with FBS.

  11. [Atypical presentation of Klinefelter syndrome].

    Science.gov (United States)

    Sanz Marcos, N; Turón Viñas, A; Ibáñez Toda, L

    2013-08-01

    Klinefelter syndrome (KS) is the most common sex chromosomal abnormality and is associated with hypergonadotropic hypogonadism as an endocrine disorder. The phenotype is characterized by tall stature, abdominal adiposity and small testicles, and often appears after puberty.We report two cases of SK. The first patient is a 2-year-old boy with short stature who received growth hormone therapy. Because of non-progressive puberty, an evaluation of the reproductive axis was performed, showing increased basal gonadotropins. The karyotype (48 XXYY) confirmed the presence of KS. The second patient is an 8 year-old boy in whom peripheral precocious puberty was suspected. Laboratory tests showed high chorionic gonadotropin levels, and a chest CT scan revealed a mediastinal mass. The karyotype in peripheral blood disclosed a 48 XXYY formula (KS).Short stature does not exclude SK. In patients with a mediastinal mass and neurobehavioral deficits, KS should be suspected. Copyright © 2012 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  12. Status epilepticus as the only presentation of the neonatal Bartter syndrome

    Directory of Open Access Journals (Sweden)

    Soumya Patra

    2012-01-01

    Full Text Available Bartter syndrome is a rare hereditary (autosomal recessive salt-losing tubulopathy characterized by hypokalemia, hypochloremia, metabolic alkalosis, and normal blood pressure with hyperreninemia, The underlying renal abnormality results in excessive urinary losses of sodium, chloride, and potassium. We report a case of a four-month-old infant with neonatal Bartter syndrome, who presented only with status epilepticus. To the best of our present knowledge, there is no reported case of Bartter syndrome who presented with status epilepticus.

  13. Brain Fag Syndrome Among Nigerian Undergraduates: Present ...

    African Journals Online (AJOL)

    Brain Fag Syndrome Among Nigerian Undergraduates: Present Status And Association With Personality And Psychosocial Factors. ... The Brain Fag Syndrome Scale (BFSS), Eysenck Personality Questionnaire (EPQ), 30-item version of the General Health Questionnaire (GHQ-30) and a questionnaire on sociodemographic ...

  14. Unusual Presentation Of Dapsone Syndrome

    Directory of Open Access Journals (Sweden)

    Singh Prabhas Chandra

    2001-01-01

    Full Text Available A 15 year old girl presented with a rare association of generalized maculopapular rash with exfoliation, hepatic involvement, nephritis, arthralgia and repeated serum sickness type of reaction after taking depsone. The case is reported because of its unusual presentation.

  15. Functional connectivity of the cortex of term and preterm infants and infants with Down's syndrome.

    Science.gov (United States)

    Imai, Makiko; Watanabe, Hama; Yasui, Kojiro; Kimura, Yuki; Shitara, Yoshihiko; Tsuchida, Shinya; Takahashi, Naoto; Taga, Gentaro

    2014-01-15

    Near-infrared spectroscopy (NIRS) imaging studies have revealed the functional development of the human brain in early infancy. By measuring spontaneous fluctuations in cerebral blood oxygenation with NIRS, we can examine the developmental status of the functional connectivity of networks in the cortex. However, it has not been clarified whether premature delivery and/or chromosomal abnormalities affect the development of the functional connectivity of the cortex. In the current study, we investigated the spontaneous brain activity of sleeping infants who were admitted to a neonatal intensive care unit at term age. We classified them into the 3 following infant groups: (i) term-or-late-preterm, (ii) early-preterm, and (iii) Down's syndrome (DS). We used multichannel NIRS to measure the spontaneous changes in oxygenated hemoglobin (oxy-Hb) and deoxygenated hemoglobin (deoxy-Hb) at 10 measurement channels, which covered the frontal, temporal, and occipital regions. In order to reveal the functional connectivity of the cortical networks, we calculated the temporal correlations of the time-course signals among all of the pairs of measurement channels. The functional connectivity was classified into the 4 following types: (i) short-range, (ii) contralateral-transverse, (iii) ipsilateral-longitudinal, and (iv) control. In order to examine whether the local properties of hemodynamics reflected any pathological conditions, we calculated the phase differences between the oxy- and deoxy-Hb time-course signals in the 3 groups. The statistical analyses of the functional connectivity data showed main effects of group and the types of connectivity. For the group effect, the mean functional connectivity of the infants in the term-or-late-preterm group did not differ from that in the early-preterm group, and the mean functional connectivity of the infants in the DS group was lower than that in the other 2 groups. For the effect of types of connectivity, short-range connectivity

  16. Feeding issues and interventions in infants and children with clefts and craniofacial syndromes.

    Science.gov (United States)

    Miller, Claire K

    2011-05-01

    Problems with oral feeding occur in varying degrees in infants born with cleft lip/palate and/or craniofacial syndromes. The extent of clefting is associated with the severity of feeding problems, and if cleft lip/palate occurs in conjunction with a craniofacial syndrome, additional structural, airway, and neuromotor issues may be present. The infant's feeding and swallowing skills may be significantly impaired, characterized by inefficient oral feeding skills coupled with poor airway protection ability during swallowing. Inadequate airway protection during swallowing has serious implications for the infant's respiratory health as sequelae of chronic aspiration during feeding may include recurrent respiratory illness, pneumonia, and lung damage. Feeding difficulty in nonsyndromic and syndromic cleft lip/palate infants has been documented as source of considerable stress for parents and can have a potential negative effect on the parent-infant bonding process. Therefore, timely identification of feeding problems by the speech pathologist with subsequent intervention and modification in the feeding method is essential, along with provision of early feeding instruction to families. The objective of this article is to review expert opinion and available evidence regarding factors that influence feeding success and efficiency in infants with nonsyndromic and syndromic cleft lip/palate. The types of compensatory strategies or interventions that are effective in alleviation of feeding and swallowing difficulties will be described. Descriptive reports, expert opinion, and available evidence from clinical trials to support the use of feeding interventions in treatment are reviewed. © Thieme Medical Publishers.

  17. Neuroblastoma presenting with the nephrotic syndrome.

    Science.gov (United States)

    Zheng, H L; Maruyama, T; Matsuda, S; Satomura, K

    1979-08-01

    A case of neuroblastoma in a 4-yr-old boy presenting with the nephrotic syndrome is reported. Nether thrombosis nor stenosis of the renal veins and the inferior vena cava was present. Electron microscopy revealed lumps of subepithelial deposits as well as thickening and tortuosity of the glomerular basement membrane compatible with membranous nephropathy. It is postulated that deposition of neuroblastoma-associated immune complexes on the glomerular basement membrane-was responsible for the development of the nephrotic syndrome in this patient. Five pediatric cases of nephrotic syndrome associated with extrarenal neoplasia were collected from the world literature and are briefly discussed.

  18. Coffin-Siris syndrome: a case of an extremely low birthweight infant with severe kyphoscoliosis.

    Science.gov (United States)

    Suzumura, H; Sakurai, K; Kano, K; Ichimura, T

    1996-10-01

    A case of Coffin-Siris syndrome in a male of extremely low birthweight with severe kyphoscoliosis is reported. His birthweight was 965 g, the lowest reported in the world for an infant with this syndrome. Coffin-Siris syndrome is characterized by nail hypoplasia of the fingers and toes, eyebrow hypertrichosis, prominent lips and prenatal or postnatal growth retardation. He was the only case who was mechanically ventilated from birth because of birth asphyxia. He died at 12 days of age because of sepsis, a poor immune system as in other extremely low birthweight infants, and because he easily suffered from upper respiratory infection as a result of Coffin-Siris syndrome. Kyphoscoliosis is suggested as one of the important features in low birthweight cases of Coffin-Siris syndrome in previous reports and in the present case.

  19. Primary antiphospholipid syndrome presenting with homonymous quadrantanopsia.

    Science.gov (United States)

    Yang, Hee Kyung; Moon, Ki Won; Ji, Min Jung; Han, Sang Beom; Hwang, Jeong-Min

    2018-06-01

    To report a case of primary antiphospholipid syndrome presenting with isolated homonymous superior quadrantanopsia. A 50-year-old Korean man presented with subjective visual disturbance for 1 month. Visual field testing showed a right homonymous superior quadrantanopsia. Brain magnetic resonance imaging (MRI) revealed an old infarct in his left occipital lobe and multiple lesions in other areas of the brain. Laboratory tests showed a marked increase in serum anti-β2 glycoprotein I antibody, which remained elevated after 12 weeks. He was diagnosed with primary antiphospholipid syndrome and started anticoagulation therapy. This is the first case report of primary antiphospholipid syndrome presenting with isolated homonymous quadrantanopsia. Antiphospholipid syndrome should be considered as a differential diagnosis in patients with homonymous visual field defects accompanying multiple cerebral infarcts.

  20. mtDNA Deletion in an Iranian Infant with Pearson Marrow Syndrome

    OpenAIRE

    Arzanian, Mohammad Taghi; Eghbali, Aziz; Karimzade, Parvaneh; Ahmadi, Mitra; Houshmand, Massoud; Rezaei, Nima

    2010-01-01

    Background:Pearson syndrome (PS) is a rare multisystem mitochondrial disorder of hematopoietic system, characterized by refractory sideroblastic anemia, pancytopenia, exocrine pancreatic insufficiency, and variable neurologic, hepatic, renal, and endocrine failure. Case Presentation:We describe a six-month-old female infant with Pearson marrow syndrome who presented with neurological manifestations. She had several episodes of seizures. Hematopoietic abnormalities were macrocytic anemia and n...

  1. Unusual presentation of necrotizing fasciitis in an HIV exposed infant

    African Journals Online (AJOL)

    Prof Ezechukwu

    threatening soft tissue infection characterized by rapidly spreading inflammation with necrosis of fascia, subcutaneous tissues and overlying skin and is associated with signs of systemic toxicity. We present a case report of an uncommon presentation of NF in an HIV exposed infant. This report is highlighting the. Introduction.

  2. Unusual presentation of necrotizing fasciitis in an HIV exposed infant

    African Journals Online (AJOL)

    Necrotizing fasciitis(NF) is a potentially life threatening soft tissue infection characterized by rapidly spreading inflammation with necrosis of fascia, subcutaneous tissues and overlying skin and is associated with signs of systemic toxicity. We present a case report of an uncommon presentation of NF in an HIV exposed infant.

  3. Cardiac muscarinic receptor overexpression in sudden infant death syndrome.

    Directory of Open Access Journals (Sweden)

    Angelo Livolsi

    Full Text Available BACKGROUND: Sudden infant death syndrome (SIDS remains the leading cause of death among infants less than 1 year of age. Disturbed expression of some neurotransmitters and their receptors has been shown in the central nervous system of SIDS victims but no biological abnormality of the peripheral vago-cardiac system has been demonstrated to date. The present study aimed to seek vago-cardiac abnormalities in SIDS victims. The cardiac level of expression of muscarinic receptors, as well as acetylcholinesterase enzyme activity were investigated. METHODOLOGY/PRINCIPAL FINDINGS: Left ventricular samples and blood samples were obtained from autopsies of SIDS and children deceased from non cardiac causes. Binding experiments performed with [(3H]NMS, a selective muscarinic ligand, in cardiac membrane preparations showed that the density of cardiac muscarinic receptors was increased as shown by a more than doubled B(max value in SIDS (n = 9 SIDS versus 8 controls. On average, the erythrocyte acetylcholinesterase enzyme activity was also significantly increased (n = 9 SIDS versus 11 controls. CONCLUSIONS: In the present study, it has been shown for the first time that cardiac muscarinic receptor overexpression is associated with SIDS. The increase of acetylcholinesterase enzyme activity appears as a possible regulatory mechanism.

  4. Otolaryngological presentations of Cornelia de Lange syndrome.

    Science.gov (United States)

    Hamilton, Jane; Clement, W Andrew; Kubba, Haytham

    2014-09-01

    Children with Cornelia de Lange syndrome frequently present to otolaryngology services with hearing problems. Airway problems have not previously been reported. We wish to describe our experience of the overall management in a series of children with Cornelia de Lange syndrome. Retrospective case note review of children diagnosed with Cornelia de Lange syndrome presenting to our department between 2005 and 2014. Six patients were seen. Airway problems consisted of laryngeal overspill with severe gastroesophageal dysmotility and reflux despite structurally normal airway (1 case), laryngomalacia requiring supraglottoplasty (2 cases), reflux laryngitis with secondary laryngomalacia and coincidental tracheal diverticulum (1 case) choanal atresia requiring stents (1 case) and obstructive sleep apnoea (1 case). Supraglottoplasty produced a dramatic improvement in feeding and breathing in both children who underwent the procedure. Two children had palatal anomalies and one underwent cochlear implantation for a profound sensorineural hearing loss. Children with Cornelia de Lange syndrome have multifaceted ENT problems. Airway pathology has not previously been described in Cornelia de Lange syndrome but has been common in our experience. We wish to highlight that laryngomalacia in Cornelia de Lange syndrome responds well to supraglottoplasty. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  5. Serological markers of hepatitis B infection in infants presenting for ...

    African Journals Online (AJOL)

    owner

    2012-12-29

    Dec 29, 2012 ... Abstract Introduction: Hepatitis. B vaccine can prevent perinatal transmission if administered within 24 hours of birth. Nigerian infants are known to present late for their first immunizations and may acquire the virus either verti- cally or horizontally before re- ceipt of the first dose of hepatitis. B immunization.

  6. Serological markers of hepatitis B infection in infants presenting for ...

    African Journals Online (AJOL)

    Introduction: Hepatitis B vaccine can prevent perinatal transmission if administered within 24 hours of birth. Nigerian infants are known to present late for their first immunizations and may acquire the virus either vertically or horizontally before receipt of the first dose of hepatitis. B immunization. This study evaluated ...

  7. A case of clinical Reye syndrome presenting characteristic CT changes

    International Nuclear Information System (INIS)

    Hino, Tamaki; Sai, Hoshun; Morikawa, Yuji; Mizuta, Ryuzo; Okuno, Takehiko.

    1984-01-01

    A 9-month-old male infant was admitted to our hospital on the second day of cold like syndrome because of high fever, convulsion, coma, and decerebrate rigidity. Serum GOT, GPT, LDH, and CPK were markedly elevated. Serum ammonia was slightly increased, and hypoglycemia was present. The cerebrospinal fluid showed no pleocytosis, normal sugar content, but increased protein. Thus we made a diagnosis of clinical Reye syndrome according to the criteria by Yamashita, et al. A CT on the day of admission showed symmetrical low-density areas in the posterior fossa and the regions of thalamus. Ringed enhancements were seen around the areas of low density in the thalamus on the twenty-second hospital day. We consider that these lesions may represent the infarction due to obstruction of the thalamoperforant arteries caused by cerebral edema in the early stage of the disease. (author)

  8. Sleep phenotypes in infants and toddlers with neurogenetic syndromes.

    Science.gov (United States)

    Abel, Emily A; Tonnsen, Bridgette L

    2017-10-01

    Although sleep problems are well characterized in preschool- and school-age children with neurogenetic syndromes, little is known regarding the early emergence of these problems in infancy and toddlerhood. To inform syndrome-specific profiles and targets for intervention, we compared parent-reported sleep problems in infants and toddlers with Angelman syndrome (AS), Williams syndrome (WS), and Prader-Willi syndrome (PWS) with patterns observed among same-aged typically developing (TD) controls. Mothers of 80 children (18 AS, 19 WS, 19 PWS, and 24 TD) completed the Brief Infant Sleep Questionnaire. Primary dependent variables included (1) sleep onset latency, (2) total sleep duration, (3) daytime and nighttime sleep duration, and (4) sleep problem severity, as measured by both maternal impression and National Sleep Foundation guidelines. Sleep problems are relatively common in children with neurogenetic syndromes, with 41% of mothers reporting problematic sleep and 29% of children exhibiting abnormal sleep durations as per national guidelines. Across genetic subgroups, problems are most severe in children with AS and WS, particularly in relation to nighttime sleep duration. Although atypical sleep is characteristically reported in each syndrome later in development, infants and toddlers with PWS exhibited largely typical patterns, potentially indicating delayed onset of sleep problems in concordance with other medical features of PWS. Our findings suggest that sleep problems in neurogenetic syndromes emerge as early as infancy and toddlerhood, with variable profiles across genetic subgroups. This work underscores the importance of early sleep screenings as part of routine medical care of neurosyndromic populations and the need for targeted, syndrome-sensitive treatment. Copyright © 2017 Elsevier B.V. All rights reserved.

  9. A possible explanation of sudden infant death syndrome (SIDS).

    Science.gov (United States)

    Christos, G A; Christos, J A

    1993-09-01

    Research into (lucid) dreaming has shown that the images of a dream are supported by the corresponding body actions, utilizing those muscles which remain active during dreaming. We suggest that Sudden Infant Death Syndrome (SIDS) or Cot Death may be a result of an infant dreaming about its life as a fetus. In the course of that dream, since a fetus does not breathe in the usual sense, the infant may cease to breathe and die. Our hypothesis is consistent with the known facts about SIDS, including social factors such as sleeping position and climatic variation. We suggest that the risk of SIDS can be reduced by making the environment of the infant, as much as possible, unlike that of the womb.

  10. Leptomeningeal neurons are a common finding in infants and are increased in sudden infant death syndrome

    NARCIS (Netherlands)

    Rickert, Christian H.; Gross, Oliver; Nolte, Kay W.; Vennemann, Mechtild; Bajanowski, Thomas; Brinkmann, Bernd

    Developmental abnormalities of the brain, in particular, the brainstem potentially affecting centers for breathing, circulation and sleep regulation, are thought to be involved in the etiology of sudden infant death syndrome (SIDS). In order to investigate whether leptomeningeal neurons could serve

  11. Primary Antiphospholipid Syndrome: Unusual Presentation in a ...

    African Journals Online (AJOL)

    A 72 year old man with a history of TIAs and stroke with unexplained moderately raised ESR presented a year later with rapid deterioration of vision in his left eye because of central retinal vein occlusion. Primary antiphospholipid syndrome is found in patients with history of arterial or venous thromboembolism, ...

  12. Metabolic syndrome among Ghanaian patients presenting with ...

    African Journals Online (AJOL)

    Metabolic syndrome (MetS) is a general risk factor for cardiovascular and chronic kidney disease (CKD) in Western populations. This study assessed the relationship between MetS and its compo-nents in Ghanaian patients presenting with CKD. The study population comprised of 146 non-dialysed individuals with CKD with ...

  13. Iatrogenic Cushing's Syndrome in an Infant.

    Science.gov (United States)

    Namburu, Rajendra Prasad; T S, Karthik; Reddy P, Amaresh

    2013-02-01

    A high potency, long acting and/or the extended use of oral corticosteroids, particularly in children, may cause suppression of the hypothalamo-pituitary-adrenal axis. However, the iatrogenic Cushing's syndrome in the infantile age group is rare and only few patients have been reported to date in the literature. Here, we are reporting a case of iatrogenic Cushing's syndrome in a 5-month-old male child, whose parents brought him to the hospital for puffiness of the face and overweight.

  14. An eighteen month-old infant with Cornelia de Lange syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Reza saeidi

    2015-12-01

    Full Text Available Cornelia de Lange syndrome (CdLS is an uncommon multiple congenital anomaly with unknown cause and recurrent risk and may be the result of an inheritance metabolic error. In classical form of the syndrome there is a recognizable facial appearance at birth although in children with mild disease this may be less obvious at birth but become more noticeable over the first three years of life. In this article we present an infant with multiple congenital anomaly who finally diagnosed as Cornelia de Lange syndrome.

  15. Should pacifiers be recommended to prevent sudden infant death syndrome?

    Science.gov (United States)

    Mitchell, E A; Blair, P S; L'Hoir, M P

    2006-05-01

    Our aim was to review the evidence for a reduction in the risk of sudden infant death syndrome (SIDS) with pacifier ("dummy" or "soother") use, to discuss possible mechanisms for the reduction in SIDS risk, and to review other possible health effects of pacifiers. There is a remarkably consistent reduction of SIDS with pacifier use. The mechanism by which pacifiers might reduce the risk of SIDS is unknown, but several mechanisms have been postulated. Pacifiers might reduce breastfeeding duration, but the studies are conflicting. It seems appropriate to stop discouraging the use of pacifiers. Whether it is appropriate to recommend pacifier use in infants is open to debate.

  16. Bardet-Biedl syndrome presenting with steroid sensitive nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    K K Singh

    2015-01-01

    Full Text Available Bardet-Biedl syndrome (BBS is a rare autosomal recessive disorder characterized by postaxial polydactyly, retinitis pigmentosa, central obesity, mental retardation, hypogonadism, and renal involvement. Renal involvement in various forms has been seen in BBS. Cases with nephrotic range proteinuria not responding to steroid have been described in this syndrome. Here we report a case of BBS who presented with nephrotic range proteinuria. The biopsy findings were suggestive of minimal change disease. The child responded well to steroid therapy and remains in remission.

  17. NEPHROTIC SYNDROME: PAST, PRESENT AND FUTURE

    Directory of Open Access Journals (Sweden)

    M. S. Ignatova

    2017-01-01

    Full Text Available This literature review is focused to change our ideas about the etiology, pathogenesis and treatment tactics of the nephrotic syndrome  in recent decades. The change in the treatment outcomes of the primary nephrotic syndrome in connection with the emergence of new  therapy technologies, is shown. Features of the course, examination and therapy of congenital and infantile nephrotic syndrome and  the possibility of the debut of a nephrotic syndrome associated with various gene mutations and at an older age are presented. Principal differences in diagnostic and therapeutic approaches are accentuated depending on the cause of the development of the disease.  Modern syndromological and pathogenetic methods of therapy of primary nephrotic syndrome are presented, and the immediate opportunities for the introduction of new treatment technologies based on the use of monoclonal antibodies, are shown.

  18. Unilateral facial palsy in an infant: an unusual presentation of familial multiple cerebral cavernous malformation.

    LENUS (Irish Health Repository)

    Zakaria, Zaitun

    2012-01-01

    Cerebral cavernous malformation (CCM) in infants tends to have genetic predisposition. These cavernomas have a progressive course of events and associated neurological symptoms with increase in age. They most commonly present with seizure and syndrome of increased intracranial pressure comprising of headache, vomiting and focal neurological signs. We describe a case of a 7-month-old infant who presented with an acute onset of right facial paralysis with a background of familial CCM. The CT and MRI scan revealed fresh haemorrhage in the right cerebellar and pontine cavernomas with surrounding oedema and no evidence of obstructive hydrocephalus. These two cavernomas re-bled in a week duration causing episodes of incessant crying and irritability. After discussing the pros and cons of treatment, owing to stable clinical status, the patient is currently been managed conservatively.

  19. On the Question of the Diagnosis of Sudden Infant Death Syndrome

    Directory of Open Access Journals (Sweden)

    L. L. Nisevich

    2015-01-01

    Full Text Available Sudden Infant Death Syndrome (SIDS is one of the leading causes of postneonatal mortality of infants in most developed countries. This paper presents data on terminology and on the study of SIDS in developed countries, and also examines problems of SIDS diagnostic inRussia in comparison with the results of own researches, analyzes risk factors, which are universal as for SIDS, and also for perinatal and infant death in general. The large variability of SIDS diagnosis in Russia suggests that this diagnosis often does not comply with international standard: post-mortem examination of community-acquired sudden death cases is often carried out by a forensic expert, but not by a children's pathologist, and they do not use virological and microbiological methods of investigation. In some cases, there is no infant's record or case record from children's polyclinic.

  20. A Toddler Presenting with Pulmonary Renal Syndrome

    Directory of Open Access Journals (Sweden)

    Florence A. Aeschlimann

    2017-06-01

    Full Text Available Pulmonary renal syndrome refers to an association of pulmonary and glomerular disease and includes disorders, such as the ANCA-associated vasculitides, anti-glomerular basement membrane antibody disease, systemic lupus erythematosus, and IgA vasculitis (Henoch-Schönlein purpura. We present the medical history of a 26-month-old boy with an extensive purpuric rash, involving the limbs, trunk, and face, who developed clinically significant pulmonary hemorrhage and renal involvement. Rapid recognition of this rare but potentially life-threatening condition is crucial. In this report, we discuss the differential diagnosis, diagnostic studies, and treatment options to consider when facing a young child presenting with a pulmonary renal syndrome.

  1. Antiphospholipid antibody syndrome presenting as transverse myelitis

    Directory of Open Access Journals (Sweden)

    Javvid M Dandroo

    2015-01-01

    Full Text Available The antiphospholipid syndrome (APS is characterized by arterial and/or venous thrombosis and pregnancy morbidity in the presence of anticardiolipin antibodies and/or lupus anticoagulant. APS can occur either as a primary disorder or secondary to a connective tissue disease, most frequently systemic lupus erythematosus. Central nervous system involvement is one of the most prominent clinical manifestations of APS, and includes arterial and venous thrombotic events, psychiatric features, and a variety of other nonthrombotic neurological syndromes. Although the mechanism of neurological involvement in patients with APS is thought to be thrombotic in origin and endothelial dysfunction associated with antiphospholipid antibodies. APS presenting as acute transverse myelitis is very rarely seen with a prevalence rate of 1%. We are describing a foreigner female presenting as acute transverse myelitis which on evaluation proved to be APS induced. So far, very few cases have been reported in literature with APS as etiology.

  2. Association between Apnea of Prematurity and Respiratory Distress Syndrome in Late Preterm Infants: An Observational Study.

    Science.gov (United States)

    Olivier, François; Nadeau, Sophie; Caouette, Georges; Piedboeuf, Bruno

    2016-01-01

    Late preterm infants (34-36 weeks' gestation) remain a population at risk for apnea of prematurity (AOP). As infants affected by respiratory distress syndrome (RDS) have immature lungs, they might also have immature control of breathing. Our hypothesis is that an association exists between RDS and AOP in late preterm infants. The primary objective of this study was to assess the association between RDS and AOP in late preterm infants. The secondary objective was to evaluate if an association exists between apparent RDS severity and AOP. This retrospective observational study was realized in a tertiary care center between January 2009 and December 2011. Data from late preterm infants who presented an uncomplicated perinatal evolution, excepted for RDS, were reviewed. Information related to AOP and RDS was collected using the medical record. Odds ratios were calculated using a binary logistic regression adjusted for gestational age and sex. Among the 982 included infants, 85 (8.7%) had an RDS diagnosis, 281 (28.6%) had AOP diagnosis, and 107 (10.9%) were treated with caffeine for AOP. There was a significant association between AOP treated with caffeine and RDS for all infants (OR = 3.3, 95% CI: 2.0-5.7). There was no association between AOP and RDS in 34 weeks infants [AOR: 1.6 (95% CI: 0.7-3.8)], but an association remains for 35 [AOR: 5.7 (95% CI: 2.5-13.4)] and 36 [OR = 7.8 (95% CI: 3.2-19.4)] weeks infants. No association was found between apparent RDS severity and AOP, regarding mean oxygen administration duration or complications associated with RDS. The association between RDS and AOP in late preterm infants reflects that patients affected by RDS are not only presenting lung immaturity but also respiratory control immaturity. Special consideration should be given before discontinuing monitoring after RDS resolution in those patients.

  3. Sudden infant death syndrome: an unrecognized killer in developing countries

    Directory of Open Access Journals (Sweden)

    Ndu IK

    2016-02-01

    Full Text Available Ikenna Kingsley Ndu Department of Paediatrics, Enugu State University Teaching Hospital, Enugu, Nigeria Abstract: Sudden infant death syndrome (SIDS is defined as the sudden unexpected death of an infant <1 year of age, with onset of the fatal episode apparently occurring during sleep, that remains unexplained after a thorough investigation including performance of a complete autopsy and review of the circumstances of death and the clinical history. SIDS contributes to infant mortality and resulted in ~15,000 deaths globally in 2013. Most of the risk factors of SIDS are common in developing countries; yet, there has been little interest in SIDS by researchers in Africa. This review looks at the extent of the attention given to SIDS in a developing country like Nigeria, and factors responsible for the scarce data concerning this significant cause of mortality. Keywords: SIDS, mortality, Nigeria

  4. Chryseobacterium gleum pneumonia in an infant with nephrotic syndrome.

    Science.gov (United States)

    Abdalhamid, Baha; Elhadi, Nasreldin; Alsamman, Khaldoon; Aljindan, Reem

    2016-01-01

    Chryseobacterium gleum is commonly distributed in the environment. It can cause a wide variety of infections in immunocompromised patients in hospital setting. A 6 month old infant with nephrotic syndrome was admitted to the emergency room for an acute onset of fever, difficulty breathing, cyanosis, and low oral intake. Cultures of endotracheal tube specimens were positive for Chryseobacterium gleum which was confirmed by ribosomal sequencing. The organism was susceptible to trimethoprim-sulfamethoxazole, minocycline, and levofloxacin. The patient clinically improved on levofloxacin treatment. To the best of our knowledge, this is the first case of pneumonia caused by Chryseobacterium gleum in an infant with nephrotic syndrome. It is also the first report of C. gleum causing respiratory tract infection in Saudi Arabia.

  5. Description of the motor development of 3-12 month old infants with Down syndrome: the influence of the postural body position.

    Science.gov (United States)

    Tudella, Eloisa; Pereira, Karina; Basso, Renata Pedrolongo; Savelsbergh, Geert J P

    2011-01-01

    The purpose of the present study was to describe the rate of motor development in infants with Down syndrome in the age range of 3-12 months and identify the difficulties both in performance and acquiring motor skills in prone, supine, sitting and standing positions. Nineteen infants with Down syndrome and 25 healthy full term typical infants were assessed using the Alberta Infant Motor Scale (AIMS) monthly from 3 to 12 months of age. The infants with Down syndrome achieved significant later the level of motor performance of the typical infants. In the supine posture, the performance was significantly lesser for the Down syndrome infants in comparison to the typical infants from the 3rd to 6th month and in the 8th month. In the prone, sitting and standing postures this difference is found for all the months. In conclusion, the sequence of motor development of the Down syndrome is the same as the typical infants. However infants with Down syndrome need more time to acquire skills, mainly antigravitational ones, among them the standing position. Copyright © 2011 Elsevier Ltd. All rights reserved.

  6. Treatment with exogenous surfactant stimulates endogenous surfactant synthesis in premature infants with respiratory distress syndrome

    NARCIS (Netherlands)

    Bunt, JEH; Carnielli, VP; Janssen, DJ; Wattimena, JLD; Hop, WC; Sauer, PJ; Zimmermann, LJI

    2000-01-01

    Objective: Treatment of preterm infants with respiratory distress syndrome (RDS) with exogenous surfactant has greatly improved clinical outcome. Some infants require multiple doses, and it has not been studied whether these large amounts of exogenous surfactant disturb endogenous surfactant

  7. AN AUDIT OF THE SUDDEN-INFANT-DEATH-SYNDROME PREVENTION PROGRAM IN THE AUCKLAND REGION

    NARCIS (Netherlands)

    Obdeijn, M. C.; Tonkin, S.; Mitchell, E. A.

    1995-01-01

    Aim. An audit of the sudden infant death syndrome (SIDS) prevention programme in the Auckland region. Methods. 107 health professionals working in antenatal classes, postnatal wards, domiciliary midwifery and the Plunket Society were interviewed. Results. Maternal smoking and infant sleeping

  8. Hyper-immunoglobulin D syndrome with novel mutations in an afebrile infant.

    Science.gov (United States)

    Cadmus, Simi D; Green, Reid; Carrasco, Ruy; Levy, Moise L; Diaz, Lucia Z

    2018-03-30

    Hyper-immunoglobulin D syndrome is a rare autosomal-recessive autoinflammatory syndrome in which a mevalonate kinase deficiency results due to mutations of the mevalonate kinase gene. We report a case of an Asian male infant who was found to have hyper-immunoglobulin D syndrome in the absence of fever. His skin manifestations included cephalic pustulosis as well recurrent transient and fixed pink plaques and nodules on the face and extremities. Subsequent examination revealed hyper-immunoglobulin D syndrome with two novel allelic mutations in the mevalonate kinase gene: c.895G > A (p.D299N) and c.1168C > T (p.Q390). It is important for dermatologists to recognize the varied cutaneous presentations of hyper-immunoglobulin D syndrome because rapid diagnosis and treatment can significantly affect outcomes. © 2018 Wiley Periodicals, Inc.

  9. Miller Fisher syndrome presenting as palate paralysis.

    Science.gov (United States)

    Noureldine, Mohammad Hassan A; Sweid, Ahmad; Ahdab, Rechdi

    2016-09-15

    We report a 63-year old patient who presented to our care initially with a hypernasal voice followed by ataxia, ptosis, dysphonia, and paresthesias. The patient's history, physical examination, and additional tests led to a Miller Fisher syndrome (MFS) diagnosis. Palatal paralysis as an inaugurating manifestation of MFS is quite rare and requires special attention from neurologists and otolaryngologists. Although it may present as benign as an acute change in voice, early diagnosis and prompt management may prevent further complications. Copyright © 2016 Elsevier B.V. All rights reserved.

  10. Severe Food Protein-Induced Enterocolitis Syndrome to Cow’s Milk in Infants

    Directory of Open Access Journals (Sweden)

    Min Yang

    2015-12-01

    Full Text Available Cow’s milk is the most common cause of food-protein-induced enterocolitis syndrome (FPIES. The aim of this study was to examine the clinical features and treatment outcomes of infants with severe FPIES to cow’s milk. We reviewed all infants ≤12 months of age who were hospitalized and diagnosed with severe FPIES to cow’s milk between 1 January 2011 and 31 August 2014 in a tertiary Children’s Medical Center in China. Patients’ clinical features, feeding patterns, laboratory tests, and treatment outcomes were reviewed. A total of 12 infants met the inclusion criteria. All infants presented with diarrhea, edema, and hypoalbuminemia. Other main clinical manifestations included regurgitation/vomiting, skin rashes, low-grade fever, bloody and/or mucous stools, abdominal distention, and failure to thrive. They had clinical remission with resolution of diarrhea and significant increase of serum albumin after elimination of cow’s milk protein (CMP from the diet. The majority of infants developed tolerance to the CMP challenge test after 12 months of avoidance. In conclusion, we reported the clinical experience of 12 infants with severe FPIES to cow’s milk, which resulted in malnutrition, hypoproteinemia, and failure to thrive. Prompt treatment with CMP-free formula is effective and leads to clinical remission of FPIES in infants.

  11. Superantigens are presented by and activate thymocytes from infants

    DEFF Research Database (Denmark)

    Thulesen, S; Jørgensen, A; Gerwien, J

    1999-01-01

    -positive CD4+8+, CD4+8-, and CD4-8+ cells. These latter subsets were shown to be able to present Sag to each other. These findings suggest that class II+ thymocytes may participate in the selection of self-restricted T cells during a critical period in the shaping of the human immune system. Copyright......A high percentage of human fetal and postnatal thymocytes express MHC class II molecules. This raises the possibility that human thymocytes in early life are able to present peptides to other immature T cells and thereby initiate thymic selection of these cells. Here we address this question...... by exposing newly harvested infant thymocytes to superantigen (Sag) which binds to the T-cell receptor and to MHC class II chains outside the peptide binding groove. The results show that the thymocytes are able to present Sag and to be activated to proliferation as well as apoptosis by Sag presented by other...

  12. Clinical presentation and management of neonatal abstinence syndrome: an update

    Directory of Open Access Journals (Sweden)

    Ordean A

    2014-04-01

    Full Text Available Alice Ordean,1 Brian C Chisamore21Department of Family Medicine, 2Department of Pediatrics, St Joseph's Health Centre, and University of Toronto, Toronto, ON, CanadaAbstract: Exposure to prescription medications and illicit drug use during pregnancy has been associated with neonatal abstinence syndrome. The clinical presentation consists of neurological respiratory, gastrointestinal, and vasomotor disturbances. All infants require observation and supportive care to ensure appropriate adaptation and growth in the newborn period. A smaller percentage may also require additional pharmacotherapy, depending on the specific gestational substance exposure. Women should be counseled antenatally about the possible neonatal effects, and mother–baby dyad care should be implemented for this particular patient population.Keywords: neonatal withdrawal, opioids, marijuana, cocaine, benzodiazepines, selective serotonin reuptake inhibitors

  13. Persistent Mullerian Duct Syndrome presenting as irreducible inguinal hernia – A surprise surgical finding!

    OpenAIRE

    Sekhon, V.; Luthra, M.; Jevalikar, G.

    2017-01-01

    Persistent Mullerian Duct Syndrome (PMDS) is diagnosed as a discrepancy between masculine external genitalia and female internal genitalia during surgery for cryptorchidism or inguinal hernia. Approximately 200 cases have been reported in the literature so far, most of whom are adults. We discuss the management in an infant presenting with irreducible inguinal hernia with contralateral undescended testis.

  14. Antiphospholipid Antibody Syndrome Presenting with Hemichorea

    Directory of Open Access Journals (Sweden)

    Yezenash Ayalew

    2012-01-01

    Full Text Available A 25-year-old Bangladeshi lady presented to neurology with a three-month history of involuntary movements of her right arm, associated with loss of power. There was progression to the right leg, and she subsequently developed episodes of slurred speech and blurred vision. At the time of presentation, she was 12 weeks pregnant and the symptoms were reported to have started at conception. Past medical history was unremarkable apart from one first trimester miscarriage and there was no significant family history suggestive of a hereditary neurological condition. MRI of the head revealed no abnormalities but serology showed positive antinuclear antibodies (ANAs at a titre of 1/400. Further investigations revealed strongly positive anticardiolipin antibodies (>120 and positive lupus anticoagulant antibodies. The patient had a second miscarriage at 19 weeks gestation strengthening the possibility that the chorea was related to antiphospholipid antibody syndrome and she was started on a reducing dose of Prednisolone 40 mg daily and aspirin 300 mg daily. Six months later, she had complete resolution of neurological symptoms. There are several reports of chorea as a feature of antiphospholipid syndrome, but no clear consensus on underlying pathophysiology.

  15. Arousal responses in babies at risk of sudden infant death syndrome at different postnatal ages.

    LENUS (Irish Health Repository)

    Dunne, K P

    1992-03-01

    Hypercarbic and hypoxic arousal responses during sleep were measured in healthy term infants, infants where a previous sibling died from sudden infant death syndrome (SIDS) and infants suffering a clearly defined apparent life threatening event (ALTE) requiring vigorous or mouth to mouth resuscitation. Groups of infants were tested at approximately one, six and 13 weeks postnatally. Arousal was defined as gross body movement with eyes opening and moving or crying. Hypercarbic arousal was by step increases in F1 Co2 until arousal occurred or until endtidal (PETCO2) reached 8.7 KpA (65 mm Hg) Hypoxic arousal was by step decreases in FIO2 until arousal occurred or until an FIO2 of 0.15 had been maintained for 20 minutes. There was no difference in hypercaribic arousal threshold with age in any group. Hypercarbic arousal threshold was significantly higher in siblings (mean 53.4, 53.6, 54.7 mmHg. [7.12, 7.14, 7.29 KPA] at 0, 6, 13 postnatal weeks) compared to controls (mean 50.9, 52.3, 53.0mm Hg. [6.78, 6.97, 7.29 KPS respectively). ALTE infants differed only at 12 weeks having a significantly lower threshold (51.0mmHg. [6.80 KPA] V 53.0mm Hg. (7.06 KPA]) compared to controls. There was no difference in hypoxic arousal response with age in any group. An arousal response to hypoxia occurred in only 22% of ALTE infants and 40% of siblings compared to 67% of normal infants. Deficient sleep arousal, especially to hypoxia, is common in infants and especially those considered at increased risk from SIDS. This deficiency is present in the first postnatal week and did not vary overy the first three months of postnatal life.

  16. Early social communication in infants with fragile X syndrome and infant siblings of children with autism spectrum disorder.

    Science.gov (United States)

    Hahn, Laura J; Brady, Nancy C; McCary, Lindsay; Rague, Lisa; Roberts, Jane E

    2017-12-01

    Little research in fragile X syndrome (FXS) has prospectively examined early social communication. To compare early social communication in infants with FXS, infant siblings of children with autism spectrum disorder (ASIBs), and typically developing (TD) infants. Participants were 18 infants with FXS, 21 ASIBs, and 22 TD infants between 7.5-14.5 months. Social communication was coded using the Communication Complexity Scale during the administration of Autism Observation Scale for Infants. Descriptively different patterns were seen across the three groups. Overall infants with FXS had lower social communication than ASIBs or TD infants when controlling for nonverbal cognitive abilities. However, infants with FXS had similar levels of social communication as ASIBs or TD infants during peek-a-boo. No differences were observed between ASIBs and TD infants. For all infants, higher social communication was related to lower ASD risk. Findings provide insight into the developmental course of social communication in FXS. The dynamic nature of social games may help to stimulate communication in infants with FXS. Language interventions with a strong social component may be particularly effective for promoting language development in FXS. Copyright © 2017 Elsevier Ltd. All rights reserved.

  17. Sudden infant death syndrome, childhood thrombosis, and presence of genetic risk factors for thrombosis

    DEFF Research Database (Denmark)

    Larsen, T B; Nørgaard-Pedersen, B; Banner, Jytte

    2000-01-01

    in the child. This prompted us to investigate these genetic markers of thromboembolic disease in 121 cases of sudden infant death syndrome and in relevant controls, in the expectation of a more frequent occurrence of these markers if thrombosis is an etiological factor in sudden infant death syndrome......Sudden infant death syndrome or "cot death" has until the late eighties been a significant cause of death in children between the ages of 1 month and 1 year. Approximately two per 1000 children born alive dies of sudden infant death syndrome each year in Western Europe, North America, and Australia....... The vulnerability of the infant brain stem to ischemia has been suggested to be a conceivable cause of sudden infant death syndrome. This is compatible with a hypothesis that genetic risk factors for cerebral thrombosis could cause microinfarction in the brain stem during the first month of life, affecting vital...

  18. Adaptive behavior in infants and toddlers with Down syndrome and fragile X syndrome.

    Science.gov (United States)

    Will, Elizabeth A; Caravella, Kelly E; Hahn, Laura J; Fidler, Deborah J; Roberts, Jane E

    2018-02-05

    Individuals with Down syndrome (DS) experience deficits across all domains of adaptive functioning, however little is known about the emergence and age-related changes of these impairments compared to other neurogenetic disorders with similar intellectual disability impairments, such as fragile X syndrome (FXS). Adaptive behavior is key for optimal functioning in these populations. Participants aged 5-45 months comprised three age-matched groups, DS (n = 64), FXS (n = 69), and typically developing controls (TD; n = 69). Adaptive behavior was measured on the Vineland Adaptive Behavior Scales-II. Regressions were used to examine adaptive behavior in a cross-sectional design across age. DS infants and toddlers evidenced deficits across all areas of adaptive behaviors compared to the age-matched TD group, with clear impairments present in the first year of life. Motor skills were the area of greatest weakness in children with DS with significant impairment evident at 12 months of age that remained low through 3 years. Compared to age-matched children with FXS, children with DS showed initially lower standard scores at 12 months of age, but slower declines in standard scores across age, resulting in less impaired functioning at 36 months. This is the first study to compare adaptive behavior in infants and toddlers with DS to FXS, and demonstrate the phenotypic specificity of adaptive profiles in this diagnostic group. These findings provide evidence that adaptive behavior should be a major target of intervention in children with FXS and DS, and that these differences are potentially driven by unique etiologies attributable to each disorder. © 2018 Wiley Periodicals, Inc.

  19. Partial Androgen Insensitivity Syndrome Presenting with Gynecomastia

    Directory of Open Access Journals (Sweden)

    Sung Won Lee

    2015-06-01

    Full Text Available Gynecomastia is a benign enlargement of the male breast caused by the proliferation of glandular breast tissue. Determining the various causes of gynecomastia such as physiological causes, drugs, systemic diseases, and endocrine disorders is important. Androgen insensitivity syndrome (AIS is a rare endocrine disorder presenting with gynecomastia and is a disorder of male sexual differentiation caused by mutations within the androgen receptor gene. All individuals with AIS have the 46 XY karyotype, although AIS phenotypes can be classified as mild, partial or complete and can differ among both males and females including ambiguous genitalia or infertility in males. We experienced a case of partial AIS presenting with gynecomastia and identified the androgen receptor gene mutation.

  20. Guillain-Barre syndrome masquerading as acute respiratory failure in an infant

    OpenAIRE

    Praveen Kishore; Pradeep Kumar Sharma; Bhaskar Saikia; Praveen Khilnani

    2015-01-01

    Guillain-Barr? syndrome (GBS) is a rare entity in infants. We report a case of GBS in a 5-month-old girl. The child presented with cough, loose stools, breathing difficulty, and listlessness. The child was treated as pneumonia with respiratory failure. Due to difficulty in weaning from ventilation with areflexia, marked hypotonia, and reduced power in all four limbs; possibilities of spinal muscular atrophy, poliomyelitis, and myopathies were kept. Nerve conduction velocity study was suggesti...

  1. Dilatation of the Great Arteries in an Infant with Marfan Syndrome and Ventricular Septal Defect

    Directory of Open Access Journals (Sweden)

    L. Rozendaal

    2011-01-01

    Full Text Available We describe an infant presenting with contractures of the fingers, a large ventricular septal defect (VSD, and severe pulmonary artery dilatation. He had clinical and echocardiographic features of both neonatal or infantile Marfan syndrome (MFS and congenital contractural arachnodactyly. After surgical VSD closure, the aortic root developed progressive dilatation while the size of pulmonary artery returned to normal limits. Eventually the diagnosis of MFS was confirmed by DNA analysis.

  2. Cogan's syndrome: present and future directions.

    LENUS (Irish Health Repository)

    Murphy, Grainne

    2009-08-01

    Cogan\\'s syndrome, typified by the combination of interstitial keratitis and immune-mediated sensorineural hearing loss, is a rare condition, and commonly associated with a diagnostic delay. Using a standard search protocol, we review the literature to date, focusing on a number of key areas pertaining to diagnosis, presentation and treatment. Using a case illustration of atypical disease which led to fulminant aortic regurgitation, we highlight the need for continued and collaborative research in order to identify negative prognostic factors and thus tailor therapeutic regimens. Atypical Cogan\\'s syndrome is more commonly associated with systemic manifestations than typical disease, and may be refractory to immunosuppressive treatment. We discuss the application of laboratory (e.g antibodies targeting inner ear antigens) and radiological (PET-CT) aids to disease confirmation and detection of sub-clinical vascular inflammation. As illustrated by the included case description, some patients remain refractory to intense immunosuppression and delineation of adverse prognostic factors which may direct treatment, perhaps including the use of PET-CT, will contribute in the future to improving patient outcomes.

  3. Increased incidence of neonatal respiratory distress in infants with mucopolysaccharidosis type II (MPS II, Hunter syndrome).

    Science.gov (United States)

    Dodsworth, Charlotte; Burton, Barbara K

    2014-02-01

    Records were reviewed on all patients with mucopolysaccharidosis type II (Hunter syndrome) seen at a single institution from 1999 to 2013 to identify those with a history of neonatal intensive care. Eleven of 34 patients were in a neonatal intensive care unit and all had respiratory distress with 8 diagnoses of respiratory distress syndrome and 3 of transient tachypnea of the newborn. None of the infants were premature; four were delivered by cesarean section. These findings suggest that respiratory distress is more commonly observed in neonates with MPS II than in the general population. This may reflect airway disease already present in this disorder at the time of birth. © 2013.

  4. Milk alkali syndrome in an infant with chronic kidney disease

    Directory of Open Access Journals (Sweden)

    Kari JA

    2012-06-01

    Full Text Available Jameela A Kari, Sherif M El DesokyDepartment of Pediatrics and Pediatric Nephrology Unit, King Abdulaziz University, Jeddah, Kingdom of Saudi ArabiaAbstract: We report a case of milk alkali syndrome in a 15-month-old infant who had chronic kidney disease. His kidney function worsened, with creatinine raised from 1.11 mg/dL (98 µmol/L to 3.98 mg/dL (350.3 µmol/L, normal 0.4–1.0 mg/dL (35–91 µmol. He had hypercalcemia, serum calcium level 3.11 (normal 2.1–2.6 mmol/L, and metabolic alkalosis, HCO3 48.7 (normal 21–26 mmol/L. His kidney function returned to its base level and his calcium and bicarbonate levels normalized with adjustment of calcium carbonate and sodium bicarbonate doses. We report this case to highlight an unusual complication and to review the literature on milk alkali syndrome which is rare in children.Keywords: milk alkali syndrome, infants, chronic kidney disease

  5. Alternative therapies for respiratory distress syndrome in preterm infants

    Directory of Open Access Journals (Sweden)

    Sinha IP

    2011-11-01

    Full Text Available Ian P Sinha1, Sunil K Sinha21Division of Women’s and Children’s Health, Institute of Translational Medicine, University of Liverpool, Liverpool, UK; 2Department of Neonatology, University of Durham and James Cook University Hospital, Middlesbrough, UKAbstract: There is growing interest in the use of noninvasive methods of providing respiratory support to preterm infants, especially those born at the limits of viability. This paper relates to the use of noninvasive forms of respiratory support, which could be used to treat preterm infants with respiratory distress syndrome (RDS. Evidence is reviewed from clinical trials that have evaluated the use of continuous positive airway pressure (CPAP, nasal intermittent positive airway pressure (NIPPV, and high flow nasal cannulae (HFNC.Keywords: CPAP, NIPPV, RDS, preterm

  6. An Infant With Transient Neonatal Pustular Melanosis Presenting as Pustules

    Directory of Open Access Journals (Sweden)

    Pei-San Chia

    2010-12-01

    Full Text Available Transient neonatal pustular melanosis is mostly found in full-term black infants. It is a benign and self-limited disease, and the etiology is still unknown. We present a full-term female neonate with multiple vesiculopustular and pigmented macular lesions found immediately after her birth. A skin biopsy showed vesicles consisting of intracorneal and subcorneal aggregates of neutrophils, which is compatible with transient neonatal pustular melanosis. Although it is rare in Taiwan and Asian countries, transient neonatal pustular melanosis should always be considered when pustulosis is found in the neonatal period to prevent the use of unnecessary antibiotics. Dermatological consultation and histological confirmation are sometimes required for the final diagnosis.

  7. Triple A syndrome presenting with myopathy: An Egyptian patient ...

    African Journals Online (AJOL)

    In this paper we report a 13 year old boy with Allgrove syndrome presenting with muscular weakness that was confi rmed by EMG studies. To our knowledge, muscle disease in Allogrove syndrome was not reported before. Keywords: Allgrove syndrome, triple A syndrome, alacrmia, cardiac achalasia, adrenal insufficiency.

  8. mtDNA Deletion in an Iranian Infant with Pearson Marrow Syndrome.

    Science.gov (United States)

    Arzanian, Mohammad Taghi; Eghbali, Aziz; Karimzade, Parvaneh; Ahmadi, Mitra; Houshmand, Massoud; Rezaei, Nima

    2010-03-01

    Pearson syndrome (PS) is a rare multisystem mitochondrial disorder of hematopoietic system, characterized by refractory sideroblastic anemia, pancytopenia, exocrine pancreatic insufficiency, and variable neurologic, hepatic, renal, and endocrine failure. We describe a six-month-old female infant with Pearson marrow syndrome who presented with neurological manifestations. She had several episodes of seizures. Hematopoietic abnormalities were macrocytic anemia and neutropenia. Bone marrow aspiration revealed a cellular marrow with marked vacuolization of erythroid and myeloid precursors. Analysis of mtDNA in peripheral blood showed 8.5 kb deletion that was compatible with the diagnosis of PS. PS should be considered in infants with neurologic diseases, in patients with cytopenias, and also in patients with acidosis or refractory anemia.

  9. New Respiratory Viruses in Infants with Bronchoobstructive Syndrome

    OpenAIRE

    S.M. Rudenko; O.V. Obertynska; Yu.O. Boyko; O.M. Okhotnikova; I.V. Dzyublik

    2014-01-01

    The objective of our study was to identify new respiratory viruses in infants with bronchoobstructive syndrome (obstructive bronchitis and exacerbation of bronchial asthma). We examined 28 children aged from 5 months to 6 years. The average age of the patients was 33.7 months (95% CI 24.5–43.0). Viruses have been identified in 75 % of patients. In 39.3 % we found bocavirus. Metapneumovirus was detected in 10.7 % of patients. Exacerbation of bronchial asthma 2.3 times more likely was associate...

  10. Sudden infant death syndrome in Brazil: fact or fancy?

    Directory of Open Access Journals (Sweden)

    Francesca Maia Woida

    Full Text Available CONTEXT AND OBJECTIVE: The true incidence of sudden infant death syndrome (SIDS in Brazil is unknown. The aim here was to identify SIDS cases in the city of Ribeirão Preto, State of São Paulo, between 2000 and 2005, in order to estimate its incidence. DESIGN AND SETTING: Retrospective analysis of data on live births and infant deaths in Ribeirão Preto and from autopsies of infants performed at the Death Verification Service of the Interior (SVOI between 2000 and 2005. RESULTS: There were 47,356 live births and 537 deaths, with infant mortality rates ranging from 12.9‰ to 10.9‰ of live births. Among the 24 infants who died possibly due to SIDS and who were autopsied at the SVOI, six were from families living in the municipality (0.13‰ of live births: three (50% were diagnosed as SIDS, and one each (16.66% as indeterminate cause, bronchoaspiration and cerebral edema. Two deaths occurred in the first month of life (33.33% and one each (16.66% at two, four, six and eight months. Two deaths each (33.33% occurred in the months of February and December, one each in August and October (16.66%. Four cases (66.7% occurred in the summer and one each (16.66% in winter and spring. There was 5:1 predominance of males over females. CONCLUSIONS: The frequency of SIDS was lower than what has been reported worldwide and in the Brazilian literature, thus suggesting underdiagnosis, indicating the lack of any specific postmortem protocol for SIDS identification and showing the need to implement this.

  11. Sudden infant death syndrome in Brazil: fact or fancy?

    Science.gov (United States)

    Woida, Francesca Maia; Saggioro, Fabiano Pinto; Ferro, Maria Alice Rossato; Peres, Luiz Cesar

    2008-01-02

    The true incidence of sudden infant death syndrome (SIDS) in Brazil is unknown. The aim here was to identify SIDS cases in the city of Ribeirão Preto, State of São Paulo, between 2000 and 2005, in order to estimate its incidence. Retrospective analysis of data on live births and infant deaths in Ribeirão Preto and from autopsies of infants performed at the Death Verification Service of the Interior (SVOI) between 2000 and 2005. There were 47,356 live births and 537 deaths, with infant mortality rates ranging from 12.9 to 10.9 of live births. Among the 24 infants who died possibly due to SIDS and who were autopsied at the SVOI, six were from families living in the municipality (0.13 of live births): three (50%) were diagnosed as SIDS, and one each (16.66%) as indeterminate cause, bronchoaspiration and cerebral edema. Two deaths occurred in the first month of life (33.33%) and one each (16.66%) at two, four, six and eight months. Two deaths each (33.33%) occurred in the months of February and December, one each in August and October (16.66%). Four cases (66.7%) occurred in the summer and one each (16.66%) in winter and spring. There was 5:1 predominance of males over females. The frequency of SIDS was lower than what has been reported worldwide and in the Brazilian literature, thus suggesting underdiagnosis, indicating the lack of any specific postmortem protocol for SIDS identification and showing the need to implement this.

  12. Risk Factors of Sudden Infant Death Syndrome and Risk Factors for Sleep Disturbances

    Science.gov (United States)

    Kelmanson, Igor A.

    2011-01-01

    Relationship between major risk factors of sudden infant death syndrome (SIDS) and sleep disorders in the infants is the subject of review and discussion. Improper micro-environmental characteristics (especially poor environmental organisation and lack of developmental stimulation), pre-term delivery and/or infant low birth weight, prone sleep…

  13. Pneumothorax in premature infants with respiratory distress syndrome: focus on risk factors

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    Sabina Terzic

    2016-02-01

    Full Text Available Introduction: Pneumothorax is a life threatening condition, more often seen in immature infants receiving mechanical ventilation. It carries a significant risk of death and impaired outcome.Objective: To determine predictive factors for the occurrence of pneumothorax in preterm infants with respiratory distress syndrome (RDS.Patients and methods: The present study was conducted in a tertiary research and educational hospital, NICU, Pediatric Clinic UKC Sarajevo, from January 2010 to December 2013. All infants had chest X-ray at admission, and were treated due to RDS with nasal continuous positive airway pressure (CPAP, mechanical ventilation, or high frequency oscillatory ventilation. At admission we registered data regarding birth weight, gestational age, Apgar score, prenatally given steroids. Inclusion criteria were fulfilled by 417 infants. Data about timing, circumstances, side and treatment of pneumothorax were gathered from medical records.Results: Mean birth weight was 1,477 g, mean gestational age 29.6 weeks. We report 98 infants who did not survive. We also report incidence of pneumothorax in 5% of the infants with RDS. In this study pneumothorax and non-pneumothorax groups didn’t differ regarding sex, gestational age (median 29 and 30 nor birth weight (p = 0.818. Apgar score at the 1st and 5th minute of life had no influence in genesis of pulmonary air leak, neither prenatally given steroids (p = 0.639, nor surfactant administration. There was a low coverage of preterm infants with prenatal steroids (overall 28.29%. We found that FiO2 ≥ 0.4 in the first 12 hours of life, and need for mechanical ventilation are predicting factors for developing pneumothorax (p < 0.05.Conclusion: Together with mechanical ventilation, inspired fraction of oxygen higher than 40%, needed to provide adequate oxygenation in the first 12 hours of life in preterm infants, could be a predictive factor in selecting the highest risk babies for development of

  14. Sudden infant death syndrome, childhood thrombosis, and presence of genetic risk factors for thrombosis

    DEFF Research Database (Denmark)

    Larsen, T B; Nørgaard-Pedersen, B; Banner, Jytte

    2000-01-01

    Sudden infant death syndrome or "cot death" has until the late eighties been a significant cause of death in children between the ages of 1 month and 1 year. Approximately two per 1000 children born alive dies of sudden infant death syndrome each year in Western Europe, North America, and Austral...

  15. Determining the Amount, Timing and Causes of Mortality among Infants with Down Syndrome

    Science.gov (United States)

    Goldman, S. E.; Urbano, R. C.; Hodapp, R. M.

    2011-01-01

    Objective: To examine the amount, timing and causes/correlates of infant mortality among newborns with Down syndrome. Methods: Using the Tennessee Department of Health Birth, Hospital Discharge and Death records, infants were identified who were born with Down syndrome from 1990 to 2006. Those who died during the first year were separated into…

  16. Somatic Health Status of Infants with Down Syndrome

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    V.L. Kashina-Yarmak

    2013-11-01

    Full Text Available In order to improve the medical surveillance of infants with Down syndrome, an analysis of developmental features of 35 children aged from 1 month to 3 years with Standard Trisomy 21 has been carried out. A high rate of burdened perinatal history, abnormal parameters of physical development has been detected. It is noted that in the period of early childhood the physical health status of children with Down syndrome is determined by the presence of congenital abnormalities of the cardiovascular system and other organs, functional disorders of the digestive system, the thyroid gland. Evaluation of features of physical health is important in substantiating the amount of rehabilitation in medical supervision for these children.

  17. The Rapunzel Syndrome: An Unusual Trichobezoar Presentation

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    Luiz Roberto Lopes

    2010-01-01

    Full Text Available The Rapunzel syndrome is an unusual form of trichobezoar found in patients with a history of psychiatric disorders, trichotillomania (habit of hair pulling and trichophagia (morbid habit of chewing the hair, consequently developing gastric bezoars. The principal symptoms are vomiting and epigastric pain. In this case report, we describe this syndrome in a young girl.

  18. Sudden Infant Death Syndrome — the overview of the problem from XXI century

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    L.A. Kravtsova

    2011-01-01

    Full Text Available Sudden infant death syndrome (SIDS is sudden non-violent death of apparently healthy infant with absence of adequate reasons of the death according to the medical history and pathomorphological examination. At the present times SIDS is one of the most significant causes of postneonatal infants’ mortality in most developed countries in the world. The main and stable characteristics of SIDS are: death during the sleep and, mainly, in prone position; the peak of SIDS cases is in 2–4 months old; it frequently occurs in premature children and infants with low inborn body weight and in boys (60%; symptoms of mild respiratory infection precede SIDS. Clinical data, analysis of heart rate and breathing in children dead by SIDS afterwards, and experiments with animal models show that the leading pathologic mechanism of SIDS are cardio-respiratory disorders. The program of prophylaxis of ominous states and SIDS includes definition of risk groups with typical clinical and instrumental criteria and observation of children from risk groups.Key words: sudden infant death syndrome, mechanisms, prophylaxis.

  19. Infant pacifiers for reduction in risk of sudden infant death syndrome.

    Science.gov (United States)

    Psaila, Kim; Foster, Jann P; Pulbrook, Neil; Jeffery, Heather E

    2017-04-05

    Sudden infant death syndrome (SIDS) has been most recently defined as the sudden unexpected death of an infant less than one year of age, with onset of the fatal episode apparently occurring during sleep, that remains unexplained after a thorough investigation, including the performance of a complete autopsy and a review of the circumstances of death and clinical history. Despite the success of several prevention campaigns, SIDS remains a leading cause of infant mortality. In 1994, a 'triple risk model' for SIDS was proposed that described SIDS as an event that results from the intersection of three factors: a vulnerable infant; a critical development period in homeostatic control (age related); and an exogenous stressor. The association between pacifier (dummy) use and reduced incidence of SIDS has been shown in epidemiological studies since the early 1990s. Pacifier use, given its low cost, might be a cost-effective intervention for SIDS prevention if it is confirmed effective in randomised controlled trials. To determine whether the use of pacifiers during sleep versus no pacifier during sleep reduces the risk of SIDS. We used the standard search strategy of the Cochrane Neonatal Review Group to search the Cochrane Central Register of Controlled Trials (CENTRAL 2016, Issue 2), MEDLINE via PubMed, Embase, and CINAHL to 16 March 2016. We also searched clinical trials databases, conference proceedings, and the reference lists of retrieved articles for randomised controlled trials and quasi-randomised trials. Published and unpublished controlled trials using random and quasi-random allocations of infants born at term and at preterm (less than 37 weeks' gestation) or with low birth weight (pacifiers for reduction in risk of SIDS. We found no randomised control trial evidence on which to support or refute the use of pacifiers for the prevention of SIDS.

  20. De morseir syndrome presenting as ambiguous genitalia

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    Anubhav Thukral

    2012-01-01

    Full Text Available Background: A 10-year-old boy presented with genital ambiguity, poor linear growth, and delayed milestones. The aim and to highlight that although rare but congenital, hypogonadotropic hypogonadism may rarely present as ambiguity. Materials and Methods: The patient was found to have bilateral cryptorchidism with proximal penile hypospadias, microphallus with a proportionate dwarfism with mildly delayed bone age, and karyotype 46XY. Euthyroid with normal steroid axis, growth hormone insufficient as suggested by auxology, low IGF1, and poor response to clonidine stimulation. MRI brain shows hypoplastic corpus callosum, hypoplastic anterior pituitary, and ectopic posterior pituitary bright spot. Results: The patient underwent laparoscopic removal of right intrabdominal testis and orchidoplexy was performed on the left one. Testicular biopsy revealed no malignancy and growth hormone replacement was initiated. The patient awaits definitive repair of hypospadias. Conclusion: As a provisional diagnosis of combined growth hormone and gonadotropin deficiency, most probable diagnosis is septo-optic dysplasia or de moseir syndrome leading to genital ambiguity.

  1. A common single nucleotide polymorphism can exacerbate long-QT type 2 syndrome leading to sudden infant death

    DEFF Research Database (Denmark)

    Nof, Eyal; Cordeiro, Jonathan M; Pérez, Guillermo J

    2010-01-01

    and mutation expressed singly and in combination in Chinese ovary (CHO-K1) and COS-1 cells. An asymptomatic woman presenting after the death of her 2-day-old infant and spontaneous abortion of a second baby in the first trimester was referred for genetic analysis. The newborn infant had nearly incessant...... suggest that a common polymorphism (K897T) can markedly accentuate the loss of function of mildly defective HERG channels, leading to long-QT syndrome-mediated arrhythmias and sudden infant death....

  2. A case of acquired Gitelman syndrome presenting as hypokalemic paralysis

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    M Kulkarni

    2015-01-01

    Full Text Available We report a case of a young female patient who presented with weakness of upper and lower limbs. On evaluation, she had hypokalemia, hypomagnesemia, metabolic alkalosis and hypocalciuria. Anti-Ro (SSA antibody was positive. She had an acquired Gitelman syndrome due to primary Sjögren′s syndrome (SS. SS presenting with features of Gitelman syndrome is very rare.

  3. [Trichorhinophalangeal syndrome--clinical presentation and genetics].

    Science.gov (United States)

    Brodwall, Kristoffer M; Júlíusson, Pétur B; Bjerknes, Robert; Hovland, Randi; Fiskerstrand, Torunn

    2011-08-09

    The trichorhinophalangeal syndrome (TRPS) is a hereditary, skeletal dysplasia which has a characteristic clinical presentation and is classified in types 1, 2 and 3, based on phenotype and genotype. Typical findings may be mild and many patients probably remain undiagnosed. The paper is based on four case reports and provides a short review of the condition. Our four patients all have typical facial features, such as a large nose and thin upper lip, thin hair and short curved fingers with characteristic radiological findings. The condition is autosomal dominant and caused by a mutation in the TRPS1 gene, which codes a gene-regulating protein involved in development of hair and modulation of chondrocytes. The diagnosis can be based on clinical findings, but DNA-analysis can be of help in unclear situations. Two of our patients were diagnosed from clinical and radiological findings, but for the two others genetic examinations were done as well. There is no causal treatment, but the diagnosis can give patients an explanation of their problems, and genetic counseling for the patient and family can be offered. Orthopedic surgery and cosmetic aids are valuable for many. In an increasingly technified medical daily life, the clinical view is still the most important tool in diagnosing patients with this condition.

  4. Spectrophotometric analysis in umbilical cords of infants with meconium aspiration syndrome.

    Science.gov (United States)

    Tuncer, Oguz; Peker, Erdal; Demir, Nihat; Akbayram, Sinan; Kirimi, Ercan

    2013-07-01

    We compared spectrophotometric analysis of the umbilical cords of infants with meconium aspiration syndrome (MAS) or with meconium-stained amniotic fluid (MSAF) and healthy infants. In a prospective study, 15 infants with MAS and 37 infants with MSAF were enrolled. Twenty healthy infants formed a control group. The absorption peak of umbilical cords with meconium was significantly higher in the infants with MAS or MSAF than in controls. Spectrophotometric analysis of the umbilical cords with meconium may be useful to identify developed neonates with MAS or MSAF.

  5. Prune belly syndrome in an Egyptian infant with Down syndrome: a case report.

    Science.gov (United States)

    Metwalley, Kotb A; Farghalley, Hekma S; Abd-Elsayed, Alaa A

    2008-10-02

    Prune belly syndrome is a rare congenital anomaly of uncertain aetiology almost exclusive to males. The association between prune belly syndrome and Down syndrome is very rare. A 4-month-old Egyptian boy was admitted to our institute for management of acute bronchiolitis. He was born at full term by normal vaginal delivery. His mother, a 42-year-Egyptian villager with six other children, had no antenatal or prenatal care. On examination, the boy was found to be hypotonic. In addition to features of Down syndrome, karyotyping confirmed the diagnosis of trisomy 21. Ultrasound examination of the abdomen showed bilateral gross hydronephrosis with megaureter. Micturating cystourethrography showed grade V vesicoureteric reflux bilaterally with no urethral obstruction. Serum creatinine concentration was 90 mumol/litre, serum sodium was 132 mmol/litre and serum potassium was 5.9 mmol/litre. We report an Egyptian infant with Down syndrome and prune belly syndrome. The incidence of this association is unknown. Routine antenatal ultrasonography will help in discovering renal anomalies which can be followed postnatally. Postnatal detection of prune belly syndrome necessitates full radiological investigation to detect any renal anomalies. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

  6. Association Between Apnea of Prematurity and Respiratory Distress Syndrome in Late Preterm Infants: An Observational Study

    Directory of Open Access Journals (Sweden)

    François Olivier

    2016-09-01

    Full Text Available AbstractLate preterm infants (34 to 36 weeks’ gestation remain a population at risk for apnea of prematurity (AOP. As infants affected by respiratory distress syndrome (RDS have immature lungs, they might also have immature control of breathing. Our hypothesis is that an association exists between RDS and AOP in late preterm infants.ObjectiveThe primary objective of this study was to assess the association between RDS and AOP in late preterm infants. The secondary objective was to evaluate if an association exists between apparent RDS severity and AOP.MethodsThis retrospective observational study was realized in a tertiary care center between January 2009 and December 2011. Data from late preterm infants who presented an uncomplicated perinatal evolution, excepted for RDS, were reviewed. Information related to AOP and RDS were collected using the medical record. Odds ratios were calculated using a binary logistic regression adjusted for GA and sex.ResultsAmong the 982 included infants 85 (8,6% had an RDS diagnosis, 281 (28,6% had AOP diagnosis and 107 (10,9% were treated with caffeine for AOP. There was a significant association between AOP treated with caffeine and RDS for all infants (OR = 3.3, 95% CI : 2.0 – 5.7. There was no association between AOP and RDS in 34 weeks infants [AOR : 1.6 (95% CI: 0.7 – 3.8] but an association remains for 35 [AOR : 5.7 (95% CI: 2.5 – 13.4] and 36 [OR: 7.8 (95% CI: 3.2 – 19.4] weeks infants. No association was found between apparent RDS severity and AOP regarding mean oxygen administration duration or complications associated with RDS.ConclusionThe association between RDS and AOP in late preterm infants reflects that patients affected by RDS are not only presenting lung immaturity, but also respiratory control immaturity. Special consideration should be given before discontinuing monitoring after RDS resolution in those patients.

  7. Pearson syndrome in an infant heterozygous for C282Y allele of HFE gene.

    Science.gov (United States)

    Kefala-Agoropoulou, Kalomoira; Roilides, Emmanuel; Lazaridou, Anna; Karatza, Eliza; Farmaki, Evangelia; Tsantali, Haido; Augoustides-Savvopoulou, Persephone; Tsiouris, John

    2007-12-01

    Pearson syndrome is a rare mitochondrial disorder characterized by sideroblastic anemia, liver disease, renal tubulopathy and exocrine pancreas deficiency. We describe a female infant suffering from anemia since birth who gradually developed the complete picture of Pearson syndrome by 13 months. Iron overload was disproportionate to blood transfusions. The patient was heterozygous for HFE gene C282Y mutation (type I hemochromatosis). After an initial response to deferoxamine she presented with cutaneous zygomycosis and died after metabolic derangement and Pneumocystis jiroveci pneumonia. This is the second case of a Pearson syndrome individual who was also heterozygous for HFE gene mutation C282Y published. It is also the second case report of a Pearson patient suffering from severe iron overload and liver disease that responded to therapy with deferoxamine.

  8. A novel mtDNA deletion in an infant with Pearson syndrome.

    Science.gov (United States)

    Kapsa, R; Thompson, G N; Thorburn, D R; Dahl, H H; Marzuki, S; Byrne, E; Blok, R B

    1994-01-01

    Pearson syndrome is a multisystem mitochondrial disorder of infancy that is associated with deletions in the mitochondrial DNA (mtDNA) genome. We report a study on a male infant with Pearson syndrome. Assessment of oxidative phosphorylation activity indicated combined respiratory-chain defects in muscle, liver and fibroblasts; in particular, activity of complex I was reduced. Analysis of the patient's mtDNA identified a novel heteroplasmic 2.461 kb deletion, present at levels greater than 50% of the total mtDNA in the tissues examined. The deletion spanned nucleotides 10368 to 12828 and was flanked by a 3 bp GCC direct repeat sequence. Gene sequences affected are subunits 3, 4, 4L and 5 of complex I, and tRNAs for arginine, histidine, serine and leucine. Our findings correlate with the multiorgan involvement observed in Pearson syndrome.

  9. Cushing Syndrome in a 6-Month-Old Infant due to Adrenocortical Tumor

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    Volmar KeithE

    2009-09-01

    Full Text Available Cushing syndrome is rare in infancy and usually due to an adrenocortical tumor (ACT. We report an infant with Cushing syndrome due to adrenocortical carcinoma. The patient presented at six months of age with a three-month history of growth failure, rapid weight gain, acne, and irritability. Physical examination showed obesity, hypertension, and Cushingoid features. Biochemical evaluation showed very high serum cortisol, mildly elevated testosterone, and suppressed ACTH. Abdominal MRI revealed a heterogeneous right adrenal mass extending into the inferior vena cava. Evaluation for metastases was negative. The tumor was removed surgically en bloc. Pathologic examination demonstrated low mitotic rate, but capsular and vascular invasion. She received no adjuvant therapy. Her linear growth has improved and Cushingoid features resolved. Hormonal markers and quarterly PET scans have been negative for recurrence 24 months postoperatively. In conclusion, adrenocortical neoplasms in children are rare, but should be considered in the differential diagnosis of Cushing syndrome.

  10. New Respiratory Viruses in Infants with Bronchoobstructive Syndrome

    Directory of Open Access Journals (Sweden)

    S.M. Rudenko

    2014-05-01

    Full Text Available The objective of our study was to identify new respiratory viruses in infants with bronchoobstructive syndrome (obstructive bronchitis and exacerbation of bronchial asthma. We examined 28 children aged from 5 months to 6 years. The average age of the patients was 33.7 months (95% CI 24.5–43.0. Viruses have been identified in 75 % of patients. In 39.3 % we found bocavirus. Metapneumovirus was detected in 10.7 % of patients. Exacerbation of bronchial asthma 2.3 times more likely was associated with bocavirus infection compared to patients with obstructive bronchitis (RR = 2.3 (95% CI 0.9–6.2. Duration of bronchoobstructive syndrome in children with bronchial asthma was significantly higher (p < 0.0001 than in children with obstructive bronchitis — 5.3 days (95% CI 4.1–6.4 versus 2.7 days (95% CI 2.3–3.1. The findings confirm a significant role of viral infection and new respiratory viruses in causing bronchoobstructive syndrome in children.

  11. Audio-visual speech perception in infants and toddlers with Down syndrome, fragile X syndrome, and Williams syndrome.

    Science.gov (United States)

    D'Souza, Dean; D'Souza, Hana; Johnson, Mark H; Karmiloff-Smith, Annette

    2016-08-01

    Typically-developing (TD) infants can construct unified cross-modal percepts, such as a speaking face, by integrating auditory-visual (AV) information. This skill is a key building block upon which higher-level skills, such as word learning, are built. Because word learning is seriously delayed in most children with neurodevelopmental disorders, we assessed the hypothesis that this delay partly results from a deficit in integrating AV speech cues. AV speech integration has rarely been investigated in neurodevelopmental disorders, and never previously in infants. We probed for the McGurk effect, which occurs when the auditory component of one sound (/ba/) is paired with the visual component of another sound (/ga/), leading to the perception of an illusory third sound (/da/ or /tha/). We measured AV integration in 95 infants/toddlers with Down, fragile X, or Williams syndrome, whom we matched on Chronological and Mental Age to 25 TD infants. We also assessed a more basic AV perceptual ability: sensitivity to matching vs. mismatching AV speech stimuli. Infants with Williams syndrome failed to demonstrate a McGurk effect, indicating poor AV speech integration. Moreover, while the TD children discriminated between matching and mismatching AV stimuli, none of the other groups did, hinting at a basic deficit or delay in AV speech processing, which is likely to constrain subsequent language development. Copyright © 2016 Elsevier Inc. All rights reserved.

  12. Lithium Intoxication Presenting as a Mixed Misidentification Syndrome

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    S. G. Potts

    1992-01-01

    Full Text Available A case is reported of lithium intoxication presenting with a mixed misidentification syndrome including features of Capgras syndrome. CT scanning showed cerebral atrophy, greater on the right, consistent with earlier evidence, suggesting that misidentification syndromes are more common with right hemisphere lesions.

  13. Turner′s syndrome presenting as metabolic bone disease

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    Sadishkumar Kamalanathan

    2012-01-01

    Full Text Available Turner′s syndrome is a genetic disorder with a complete or partial absence of one X chromosome with characteristic phenotypic features. The prevalence of renal anomalies in turner syndrome is 30-40%. However, the renal function is usually normal. We report a case of Turner′s syndrome presenting with chronic kidney disease and renal osteodystrophy.

  14. A novel deletion in a Pearson syndrome infant with hypospadias and cleft lip and palate.

    Science.gov (United States)

    Lohi, O; Kuusela, A L; Arola, M

    2005-01-01

    Pearson syndrome is a rare multiorgan mitochondrial disorder that causes substantial disability and usually leads to premature death. We describe an infant with Pearson syndrome who showed, in addition to the typical features of the syndrome, cleft lip and palate and hypospadias.

  15. HYPERTROPHIC CARDIOMYOPATHY AS A PART OF INHERITED MALFORMATION SYNDROMES IN INFANTS

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    M.V. Tural'chuk

    2011-01-01

    Full Text Available The data of clinical and instrumental examination of two infantile patients with obstructive hypertrophic cardiomyopathy in association with marked multisystem involvement as a picture of inherited malformation syndromes are given.Key words: infants, hypertrophic cardiomyopathy, LEOPARD syndrome, Noonan syndrome.(Voprosy sovremennoi pediatrii — Current Pediatrics. 2011; 10 (3: 166–169

  16. Painful bruising syndrome presenting as Persistent haematuria

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    Poonia Ajay

    1992-01-01

    Full Text Available A 35-year old hysterical woman had persistent gross haematuria. She started developing painful ecchymosis 4 years after the onset of haematuria. The diagnosis of painful bruising syndrome was confirmed by intracutaneous sensitivity test and the patient responded excellently to cyproheptadine.

  17. Antiphospholipid antibody syndrome presenting as transverse myelitis

    OpenAIRE

    Javvid M Dandroo; Naveed Mohsin; Firdousa Nabi

    2015-01-01

    The antiphospholipid syndrome (APS) is characterized by arterial and/or venous thrombosis and pregnancy morbidity in the presence of anticardiolipin antibodies and/or lupus anticoagulant. APS can occur either as a primary disorder or secondary to a connective tissue disease, most frequently systemic lupus erythematosus. Central nervous system involvement is one of the most prominent clinical manifestations of APS, and includes arterial and venous thrombotic events, psychiatric features, and a...

  18. Echocardiographic findings in infants with presumed congenital Zika syndrome: Retrospective case series study.

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    Danielle Di Cavalcanti

    Full Text Available To report the echocardiographic evaluation of 103 infants with presumed congenital Zika syndrome.An observational retrospective study was performed at Instituto de Medicina Integral Prof. Fernando Figueira (IMIP, Recife, Brazil. 103 infants with presumed congenital Zika syndrome. All infants had microcephaly and head computed tomography findings compatible with congenital Zika syndrome. Zika IgM antibody was detected in cerebrospinal fluid samples of 23 infants. In 80 infants, the test was not performed because it was not available at that time. All infants had negative serology for HIV, syphilis, rubella, cytomegalovirus and toxoplasmosis. A complete transthoracic two-dimensional, M-mode, continuous wave and pulsed wave Doppler and color Doppler echocardiographic (PHILIPS HD11XE or HD15 examination was performed on all infants.14/103 (13.5% echocardiograms were compatible with congenital heart disease: 5 with an ostium secundum atrial septal defect, 8 had a hemodynamically insignificant small apical muscular ventricular septal defect and one infant with dyspnea had a large membranous ventricular septal defect. The echocardiograms considered normal included 45 infants with a persistent foramen ovale and 16 with a minimum patent ductus arteriosus.Preliminarily this study suggests that congenital Zika syndrome may be associated with an increase prevalence of congenital heart disease. However the types of defects noted were septal defects, a proportion of which would not be hemodynamically significant.

  19. Superior vena cava syndrome as tumour presentation

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    Nuno Filipe Pires

    2010-01-01

    Full Text Available Superior vena cava syndrome (SVCS is characterised by gradual and insidious compression/obstruction of the superior vena cava (SVC. Upper chest and neck ingurgitation, plethoric face and oedema are the common symptoms/signs. It generally means the presence of neoplasm, namely lung cancer. Aim: Retrospective analysis of the patients admitted to S. João Hospital, Porto, Portugal, January 1995-December 2006 with SVCS without previous diagnosis. Patients, tumour characteristics and prognostic factors were studied. Material and methods: Data was collected by consulting the clinical files of 60 SVCS patients without previous diagnosis. Data was gathered on the patients’ demographic characteristics (age, gender, smoking habits, performance status, histology, staging, treatment and overall survival. Results: Lung cancer was observed in 87% of the patients. Small-cell lung cancer (SCLC was the most frequent histological type; 41% of the patients. It is noticeable that 10% were diagnosed with non-Hodgkin's lymphoma. In terms of prognostic factors analysed, the absence of metastasis, the lymphoma's histological diagnosis, good performance status and non-smoker status were positively correlated with the survival rate. On the contrary SCLC was significantly correlated with a worse survival. Conclusions: In our analysis we concluded that SCLC, smokers and a poorer performance status as well as metastatic disease were unfavourable prognostic factors to SVCS as tumour presentation. Resumo: A síndroma da veia cava superior (SVCS é causada por uma obstrução/compressão gradual e insidiosa da veia cava superior, caracterizando-se por fácies pletórica, edema e ingurgitamento vascular do pescoço e parte superior do tronco. É geralmente tradutora de neoplasia, sendo o cancro do pulmão a sua causa mais comum. Objectivo: Estudo retrospectivo dos internamentos no Hospital de S. João entre Janeiro de 1995 e Dezembro de 2006 por

  20. Guillain-Barre syndrome masquerading as acute respiratory failure in an infant.

    Science.gov (United States)

    Kishore, Praveen; Sharma, Pradeep Kumar; Saikia, Bhaskar; Khilnani, Praveen

    2015-01-01

    Guillain-Barré syndrome (GBS) is a rare entity in infants. We report a case of GBS in a 5-month-old girl. The child presented with cough, loose stools, breathing difficulty, and listlessness. The child was treated as pneumonia with respiratory failure. Due to difficulty in weaning from ventilation with areflexia, marked hypotonia, and reduced power in all four limbs; possibilities of spinal muscular atrophy, poliomyelitis, and myopathies were kept. Nerve conduction velocity study was suggestive of mixed sensory-motor, severe axonal, and demyelinating polyradiculoneuropathy. Cerebrospinal fluid study revealed albuminocytological dissociation. Child was diagnosed as GBS and treated with intravenous immunoglobulin. Child recovered completely on follow-up. GBS should be considered as a differential diagnosis in acute onset respiratory failure with neuromuscular weakness in infants.

  1. Caution, Drivers! Children Present: Traffic, Pollution, and Infant Health

    OpenAIRE

    Christopher R. Knittel; Douglas L. Miller; Nicholas J. Sanders

    2011-01-01

    Since the Clean Air Act Amendments of 1990 (CAAA), atmospheric concentration of local pollutants has fallen drastically. A natural question is whether further reductions will yield additional health benefits. We further this research by addressing two related research questions: (1) what is the impact of automobile driving (and especially congestion) on ambient air pollution levels, and (2) what is the impact of modern air pollution levels on infant health? Our setting is California (with a f...

  2. Nitric oxide for the treatment of preterm infants with respiratory distress syndrome.

    Science.gov (United States)

    Dani, Carlo; Pratesi, Simone

    2013-01-01

    Inhaled Nitric oxide (iNO) has been proposed as effective treatment for improving oxygenation in preterm infants with respiratory distress syndrome (RDS), and for preventing the development of bronchopulmonary dysplasia (BPD). This drug evaluation mainly reviews the results of clinical studies on the effects of iNO in preterm infants with RDS which have provided contradictory results probably due to their different designs. Three recent meta-analyses of these studies have concluded that iNO therapy is not effective in decreasing the risk of death and BPD and cannot be recommended as routine treatment. The same meta-analyses suggest that some strategy of iNO treatment and some subgroups of patients, such as infants with persistent pulmonary hypertension of the newborn (PPHN), should be further studied. At present, the available evidence does not support the use of iNO in preterm infants with RDS, and iNO therapy cannot be recommended for the routine treatment of respiratory failure in premature neonates. In the future, further studies in selected populations using adequate doses and investigating the effectiveness of other drugs, such as sildenafil, might affect the use and diffusion of iNO.

  3. Neurological presentations of a secondary antiphospholipid syndrome

    Directory of Open Access Journals (Sweden)

    Yesaulenko I.E.

    2017-03-01

    Full Text Available The aim of the study is to turn the attention of specialists to antiphospholipid syndrome (APS, which is of interest to physicians of many specialties. The observation of the patient W., 32 years, with secondary APS was analyzed. Poor prognostic factors in CFA are the high frequency of thrombotic complications and thrombocytopenia, and laboratory markers — the presence of lupus anticoagulant. All patients with APS should be under medical supervision, whose main task is to assess the risk of recurrence of venous or arterial thrombosis and its prevention.

  4. The motor repertoire in 3- to 5-month old infants with Down syndrome.

    Science.gov (United States)

    Herrero, Dafne; Einspieler, Christa; Panvequio Aizawa, Carolina Y; Mutlu, Akmer; Yang, Hong; Nogolová, Alice; Pansy, Jasmin; Nielsen-Saines, Karin; Marschik, Peter B

    2017-08-01

    Even though Down syndrome is the most common chromosomal cause of intellectual disability, studies on early development are scarce. To describe movements and postures in 3- to 5-month-old infants with Down syndrome and assess the relation between pre- and perinatal risk factors and the eventual motor performance. Exploratory study; 47 infants with Down syndrome (26 males, 27 infants born preterm, 22 infants with congenital heart disease) were videoed at 10-19 weeks post-term (median=14 weeks). We assessed their Motor Optimality Score (MOS) based on postures and movements (including fidgety movements) and compared it to that of 47 infants later diagnosed with cerebral palsy and 47 infants with a normal neurological outcome, matched for gestational and recording ages. The MOS (median=13, range 10-28) was significantly lower than in infants with a normal neurological outcome (median=26), but higher than in infants later diagnosed with cerebral palsy (median=6). Fourteen infants with Down syndrome showed normal fidgety movements, 13 no fidgety movements, and 20 exaggerated, too fast or too slow fidgety movements. A lack of movements to the midline and several atypical postures were observed. Neither preterm birth nor congenital heart disease was related to aberrant fidgety movements or reduced MOS. The heterogeneity in fidgety movements and MOS add to an understanding of the large variability of the early phenotype of Down syndrome. Studies on the predictive values of the early spontaneous motor repertoire, especially for the cognitive outcome, are warranted. The significance of this exploratory study lies in its minute description of the motor repertoire of infants with Down syndrome aged 3-5 months. Thirty percent of infants with Down syndrome showed age-specific normal fidgety movements. The rate of abnormal fidgety movements (large amplitude, high/slow speed) or a lack of fidgety movements was exceedingly high. The motor optimality score of infants with Down

  5. Brainstem serotonergic deficiency in sudden infant death syndrome.

    Science.gov (United States)

    Duncan, Jhodie R; Paterson, David S; Hoffman, Jill M; Mokler, David J; Borenstein, Natalia S; Belliveau, Richard A; Krous, Henry F; Haas, Elisabeth A; Stanley, Christina; Nattie, Eugene E; Trachtenberg, Felicia L; Kinney, Hannah C

    2010-02-03

    Sudden infant death syndrome (SIDS) is postulated to result from abnormalities in brainstem control of autonomic function and breathing during a critical developmental period. Abnormalities of serotonin (5-hydroxytryptamine [5-HT]) receptor binding in regions of the medulla oblongata involved in this control have been reported in infants dying from SIDS. To test the hypothesis that 5-HT receptor abnormalities in infants dying from SIDS are associated with decreased tissue levels of 5-HT, its key biosynthetic enzyme (tryptophan hydroxylase [TPH2]), or both. Autopsy study conducted to analyze levels of 5-HT and its metabolite, 5-hydroxyindoleacetic acid (5-HIAA); levels of TPH2; and 5-HT(1A) receptor binding. The data set was accrued between 2004 and 2008 and consisted of 41 infants dying from SIDS (cases), 7 infants with acute death from known causes (controls), and 5 hospitalized infants with chronic hypoxia-ischemia. Serotonin and metabolite tissue levels in the raphé obscurus and paragigantocellularis lateralis (PGCL); TPH2 levels in the raphé obscurus; and 5-HT(1A) binding density in 5 medullary nuclei that contain 5-HT neurons and 5 medullary nuclei that receive 5-HT projections. Serotonin levels were 26% lower in SIDS cases (n = 35) compared with age-adjusted controls (n = 5) in the raphé obscurus (55.4 [95% confidence interval {CI}, 47.2-63.6] vs 75.5 [95% CI, 54.2-96.8] pmol/mg protein, P = .05) and the PGCL (31.4 [95% CI, 23.7-39.0] vs 40.0 [95% CI, 20.1-60.0] pmol/mg protein, P = .04). There was no evidence of excessive 5-HT degradation assessed by 5-HIAA levels, 5-HIAA:5-HT ratio, or both. In the raphé obscurus, TPH2 levels were 22% lower in the SIDS cases (n = 34) compared with controls (n = 5) (151.2% of standard [95% CI, 137.5%-165.0%] vs 193.9% [95% CI, 158.6%-229.2%], P = .03). 5-HT(1A) receptor binding was 29% to 55% lower in 3 medullary nuclei that receive 5-HT projections. In 4 nuclei, 3 of which contain 5-HT neurons, there was a decrease with

  6. Using a pacifier to decrease sudden infant death syndrome: an emergency department educational intervention

    OpenAIRE

    Walsh, Paul; Vieth, Teri; Rodriguez, Carolina; Lona, Nicole; Molina, Rogelio; Habebo, Emnet; Caldera, Enrique; Garcia, Cynthia; Veazey, Gregory

    2014-01-01

    Background. Pacifier use decreases the risk of sudden infant death syndrome (SIDS). An emergency department (ED) visit may provide an opportunistic ‘teachable moment’ for parents. Objectives. To test the hypotheses (1) that caregivers were less familiar with the role of pacifiers in sudden infant death (SIDS) prevention than other recommendations, and (2) that an ED educational intervention would increase pacifier use in infants younger than six months, and (3) that otitis media would not occ...

  7. Gitelman's syndrome: a rare presentation mimicking cauda equina syndrome.

    LENUS (Irish Health Repository)

    Quinlan, C S

    2012-02-01

    We describe a case of bilateral weakness of the lower limbs, sensory disturbance and intermittent urinary incontinence, secondary to untreated Gitelman\\'s syndrome, in a 42-year-old female who was referred with presumed cauda equina syndrome. On examination, the power of both legs was uniformly reduced, and the perianal and lower-limb sensation was altered. However, MRI of the lumbar spine was normal. Measurements of serum and urinary potassium were low and blood gas analysis revealed metabolic alkalosis. Her symptoms resolved following potassium replacement. We emphasise the importance of measurement of the plasma and urinary levels of electrolytes in the investigation of patients with paralysis of the lower limbs and suggest that they, together with blood gas analysis, allow the exclusion of unusual causes of muscle weakness resulting from metabolic disorders such as metabolic alkalosis.

  8. Brain Atrophy and Hypomyelination Associated with Iatrogenic Cushing Syndrome in an Infant.

    Science.gov (United States)

    Dogan, Sumeyra; S Dogan, Mehmet; Tutunculer, Filiz; Yapiciugurlar, Ozge; Genchellac, Hakan

    2018-01-01

    Prolonged use of topical corticosteroids, particularly in infants, albeit rare, may lead to Cushing syndrome. Central nervous system abnormalities including brain atrophy and delayed myelination on cranial magnetic resonance imaging has been reported in patients with corticosteroid treatment. We herein report a 5-month-old female infant referred to Department of Pediatric Endocrinology, Edirne, Turkey with brain atrophy and myelination delay that might be due to iatrogenic Cushing syndrome caused by topical corticosteroid use.

  9. Swaddling and the Risk of Sudden Infant Death Syndrome: A Meta-analysis

    NARCIS (Netherlands)

    Pease, A.S.; Fleming, P.J.; Hauck, F.R.; Moon, R.Y.; Horne, R.S.; Hoir, M.P. L; Ponsonby, A.L.; Blair, P.S.

    2016-01-01

    CONTEXT: Swaddling is a traditional practice of wrapping infants to promote calming and sleep. Although the benefits and risks of swaddling in general have been studied, the practice in relation to sudden infant death syndrome remains unclear. OBJECTIVE: The goal of this study was to conduct an

  10. 77 FR 42768 - Leadership Meeting on Maternal, Fetal, and Infant Opioid Exposure and Neonatal Abstinence Syndrome

    Science.gov (United States)

    2012-07-20

    ... OFFICE OF NATIONAL DRUG CONTROL POLICY Leadership Meeting on Maternal, Fetal, and Infant Opioid Exposure and Neonatal Abstinence Syndrome AGENCY: Office of National Drug Control Policy. ACTION: Notice. SUMMARY: An ONDCP Leadership Meeting on Maternal, Fetal and Infant Opioid Exposure and Neonatal Abstinence...

  11. Dummy (pacifier) use and sudden infant death syndrome: Potential advantages and disadvantages

    NARCIS (Netherlands)

    Horne, R.S.C.; Moon, R.Y; L'Hoir, M.P.; Blair, P.S.

    2014-01-01

    The large decline in deaths due to the sudden infant death syndrome (SIDS) in the last 20 years in many countries is largely due to risk-reduction advice resulting from observational studies that examined the relationship between infant care practices and SIDS. Most of this advice remains largely

  12. Sudden infant death syndrome, childhood thrombosis, and presence of genetic risk factors for thrombosis

    DEFF Research Database (Denmark)

    Larsen, TB; Nørgaard-Pedersen, B; Lundemose, JB

    2000-01-01

    . The vulnerability of the infant brain stem to ischemia has been suggested to be a conceivable cause of sudden infant death syndrome. This is compatible with a hypothesis that genetic risk factors for cerebral thrombosis could cause microinfarction in the brain stem during the first month of life, affecting vital...

  13. Sudden infant death syndrome (SIDS) or cot death: A review | Ogbu ...

    African Journals Online (AJOL)

    Sudden death of an infant is not an uncommon event and when there is no adequate cause to explain the death it poses a diagnostic dilemma for the clinician, and makes discussion of the cause of death with parents quite difficult and unsatisfactory. Sudden infant death syndrome (SIDS) or cot death is a diagnostic entity ...

  14. First report of distal obstructive uropathy and prune-belly syndrome in an infant with amniotic band syndrome.

    Science.gov (United States)

    Chen, C P; Liu, F F; Jan, S W; Wang, K G; Lan, C C

    1997-01-01

    We describe the first report of distal obstructive uropathy and prune-belly syndrome in an infant with amniotic band syndrome. Prenatal ultrasonographic examination in the third trimester revealed intermittent oligohydramnios, bilateral hydronephrosis, and megacystis. Postnatally, the infant was found to have a scalp defect, a skin pedicle, pseudosyndactyly and constriction rings on the hands, marked distention of the abdomen, a fibrous band attached to the proximal urethra causing urethral stricture, a swollen penile shaft, bilateral talipes equinovarus, and syndactyly of the feet. Multiple fibrous amniotic bands could be identified in the placenta. Our case shows that fetal distal obstructive uropathy can be associated with the congenital constriction band syndrome.

  15. Infants Born with Down Syndrome: Burden of Disease in the Early Neonatal Period.

    Science.gov (United States)

    Martin, Therese; Smith, Aisling; Breatnach, Colm R; Kent, Etaoin; Shanahan, Ita; Boyle, Michael; Levy, Phillip T; Franklin, Orla; El-Khuffash, Afif

    2018-02-01

    To evaluate the incidence of direct admission of infants with Down syndrome to the postnatal ward (well newborn nursery) vs the neonatal intensive care unit (NICU), and to describe the incidence of congenital heart disease (CHD) and pulmonary hypertension (PH). This retrospective cohort study of Down syndrome used the maternal/infant database (2011-2016) at the Rotunda Hospital in Dublin, Ireland. Admission location, early neonatal morbidities, outcomes, and duration of stay were evaluated and regression analyses were conducted to identify risk factors associated with morbidity and mortality. Of the 121 infants with Down syndrome, 54 (45%) were initially admitted to the postnatal ward, but 38 (70%) were later admitted to the NICU. Low oxygen saturation profile was the most common cause for the initial and subsequent admission to the NICU. Sixty-six percent of the infants (80/121) had CHD, 34% (41/121) had PH, and 6% died. Risk factors independently associated with primary NICU admission included antenatal diagnosis of Down syndrome, presence of CHD, PH, and the need for ventilation. Infants with Down syndrome initially admitted to the postnatal ward have a high likelihood of requiring NICU admission. Overall, high rates of neonatal morbidity were noted, including rates of PH that were higher than previously reported. Proper screening of all infants with Down syndrome for CHD and PH is recommended to facilitate timely diagnoses and potentially shorten the duration of the hospital stay. Copyright © 2017 Elsevier Inc. All rights reserved.

  16. Overlap of clinical features of Smith-Magenis & Down Syndrome in newborns and infants

    Energy Technology Data Exchange (ETDEWEB)

    Thomson, K.A.; Finucane, B.M.; Bauer, M.S. [Integrated Genetics, West Paterson, NJ (United States)] [and others

    1994-09-01

    Smith-Magenis Syndrome (SMS) frequently goes unrecognized in newborns and infants as these patients do not yet demonstrate the characteristic behavioral phenotype and may only present with developmental delay and physical dysmorphism. Six of Hall`s ten cardinal features of trisomy 21 in the newborn are also frequently found in newborns with SMS, leading to an early presumptive diagnosis of DS in many of these patients. CASE No. 1: Based on clinical findings, a presumptive diagnosis of DS was given to the patient in the newborn period. Chromosome analysis of peripheral blood revealed a normal 46,XX karyotype. Given this result, the possibility of mosaic DS was raised, and a skin fibroblast study done. Again, the karyotype was reported as normal. Clinical features and cytogenetic analysis confirmed a diagnosis of SMS when the patient was 8 years old. CASE No. 2: A presumptive diagnosis of DS was made in an infant with hypotonia, facial dysmorphisms and congenital heart defects. A routine chromosome analysis was ordered, which revealed a 46,XY,del(17)(p11.2p11.2) karyotype. Indeed, approximately 38% of blood samples referred to our laboratory to rule out DS in an infant failed to demonstrate trisomy for chromosome 21. Given the high degree of clinical overlap with Down Syndrome, the diagnosis of SMS should be considered in all such patients. Additional analysis should be done to look for deletion 17p11.2 when faced with a {open_quotes}normal{close_quotes} karyotype in an infant referred to rule out DS.

  17. Sudden infant death syndrome and other sleep-related infant deaths (case study of the Republic of Komi

    Directory of Open Access Journals (Sweden)

    Natalya N. Korableva

    2017-09-01

    Full Text Available Introduction: The sudden infant death syndrome (SIDS, accidental asphyxia and suffocation in bed are the most significant part of the conditions united by the term “sudden unexpected death in infants” (SUDI. A high level of SUDI and a significant proportion in infant mortality are typical for countries with low rates of infant and babies mortality. The aim of the research is to study the epidemiological characteristics and risk factors of the sudden infant death syndrome in the Komi Republic from 1997 to 2015, to assess the contribution of SIDS, occasional asphyxia and suffocation in bed to the mortality of infants to determine the optimization of approaches to the prevention of these conditions. Materials and Methods: The retrospective data analysis of the death of infants has been performed according to medical records, protocols of pathoanatomical studies, and the conclusions of the infant mortality commission of the Ministry of Health of the Komi Republic from 1997 to 2015. Risk factors were assessed retrospectively on the scale of life-threatening conditions (Tsinserling A.V. and co-authors, 1987. Results: The cumulative infant mortality rate from SIDS was 0.63 ± 0.33 ‰ (median – 0.55 ‰. Within the past 5 years, when the infant mortality rate in the region has not changed significantly, averaging 5.22 ± 0.73 ‰, the infant mortality rate from SIDS was 0.40 ± 0.25 ‰ (median 0.43. This compares with the level registered in the USA (0,4‰ in 2013 and in Western Europe with a similar level of infant mortality. In infant mortality of in the post-neonatal period, SIDS occurred in 13.8 ± 6.3 % (median – 12.2 %. Generally recognized data on the significant contribution of social and biological factors to decreasing the risk of sudden death syndrome were confirmed. The scale of life-threatening conditions showed the high sensitivity to death from SIDS. An examination of the place accident and assess of death circumstances is

  18. Lung lavage for meconium aspiration syndrome in newborn infants.

    Science.gov (United States)

    Hahn, Seokyung; Choi, Hyun Jin; Soll, Roger; Dargaville, Peter A

    2013-04-30

    Meconium aspiration syndrome (MAS) can occur when a newborn infant inhales a mixture of meconium and amniotic fluid into the lungs around the time of delivery. Other than supportive measures, little effective therapy is available. Lung lavage may be a potentially effective treatment for MAS by virtue of removing meconium from the airspaces and altering the natural course of the disease. To evaluate the effects of lung lavage on morbidity and mortality in newborn infants with MAS. We searched the Cochrane Central Register of Controlled Trials (CENTRAL, The Cochrane Library), MEDLINE, and EMBASE up to December 2012; previous reviews including cross-references, abstracts, and conference proceedings; and expert informants. We contacted authors directly to obtain additional data. We used the following subject headings and text words: meconium aspiration, pulmonary surfactants, fluorocarbons, bronchoalveolar lavage, lung lavage, pulmonary lavage. Randomised controlled trials that evaluated the effects of lung lavage in infants with MAS, including those intubated for the purpose of lavage. Lung lavage was defined as any intervention in which fluid is instilled into the lung that is followed by an attempt to remove it by suctioning and/or postural drainage. The review authors extracted from the reports of the clinical trial, data regarding clinical outcomes, including mortality, requirement for extracorporeal membrane oxygenation (ECMO), pneumothorax, duration of mechanical ventilation and oxygen therapy, length of hospital stay, indices of pulmonary function, and adverse effects of lavage. Data analysis was done in accordance with the standards of the Cochrane Neonatal Review Group. Only four small randomised controlled trials fulfilled the selection criteria. For one of these trials, no data are available for the control group. Two studies compared lavage using diluted surfactant with standard care. Meta-analysis of these two studies did not show a significant effect on

  19. Prune belly syndrome in an Egyptian infant with Down syndrome: A case report

    OpenAIRE

    Metwalley Kotb A; Farghalley Hekma S; Abd-Elsayed Alaa A

    2008-01-01

    Abstract Introduction Prune belly syndrome is a rare congenital anomaly of uncertain aetiology almost exclusive to males. The association between prune belly syndrome and Down syndrome is very rare. Case presentation A 4-month-old Egyptian boy was admitted to our institute for management of acute bronchiolitis. He was born at full term by normal vaginal delivery. His mother, a 42-year-Egyptian villager with six other children, had no antenatal or prenatal care. On examination, the boy was fou...

  20. Rapunzel Syndrome: A Rare Presentation with Giant Gastric Ulcer

    Directory of Open Access Journals (Sweden)

    Antonios Athanasiou

    2014-01-01

    Full Text Available The Rapunzel syndrome refers to an uncommon and rare form of trichobezoar that extends past the stomach into the small intestines. The Rapunzel syndrome is usually found in young female patients with a history of psychiatric disorders, mainly trichotillomania and trichophagia. We describe a case of Rapunzel syndrome in a 15-year-old girl who presented with abdominal pain, vomiting, and weight loss. We performed a surgical laparotomy and successfully removed a huge trichobezoar extending into the small intestine.

  1. Cowden Syndrome Presenting as Breast Cancer: Imaging and Clinical Features

    Energy Technology Data Exchange (ETDEWEB)

    Seo, Mirinae [Dept. of Radiology, Graduate School of Medicine, Kyung Hee University, Seoul (Korea, Republic of); Cho, Nariya; Moon, Hyeong Gon [Seoul National University Hospital, Seoul National University College of Medicine, Seoul (Korea, Republic of); Ahn, Hye Shin [Dept. of Radiology, Chung-Ang University Hospital, Seoul (Korea, Republic of)

    2014-10-15

    Cowden syndrome is an uncommon, autosomal dominant disease which is characterized by multiple hamartomas of the skin, mucous membrane, brain, breast, thyroid, and gastrointestinal tract. The diagnosis of Cowden syndrome implicates an increased risk of developing breast cancer. We report a case of a 22-year-old woman with Cowden syndrome that presented as breast cancer with concomitant bilateral exuberant benign masses in both breasts.

  2. Barium meal examination of infants under four months of age presenting with vomiting

    Energy Technology Data Exchange (ETDEWEB)

    Arthur, R.J.; Ziervogel, M.A.; Azmy, A.F.

    1984-02-01

    One hundred barium meal examinations performed on infants of less than 4 months of age are reviewed. All the infants presented with vomiting as a major symptom and the diagnosis remained in doubt following the initial clinical assessment. Fifty seven per cent of the examinations showed an abnormality of which 45% were throught to be significant. Hypertrophic pyloric stenosis was demonstrated in 23 infants. Other abnormalities included hiatus hernia, gastrooesophageal reflux, and duodenal abnormalities. The value of barium meal examinations in this group of infants is emphasised.

  3. Sudden Infant Death Syndrome and the Genetics of Inflammation

    Science.gov (United States)

    Ferrante, Linda; Opdal, Siri Hauge

    2015-01-01

    Several studies report signs of slight infection prior to death in cases of sudden infant death syndrome (SIDS). Based on this, a hypothesis of an altered immunological homeostasis has been postulated. The cytokines are important cellular mediators that are crucial for infant health by regulating cell activity during the inflammatory process. The pro-inflammatory cytokines favor inflammation; the most important of these are IL-1α, IL-1β, IL-6, IL-8, IL-12, IL-18, TNF-α, and IFN-γ. These cytokines are controlled by the anti-inflammatory cytokines. This is accomplished by reducing the pro-inflammatory cytokine production, and thus counteracts their biological effect. The major anti-inflammatory cytokines are interleukin-1 receptor antagonist (IL-1ra), IL-4, IL-10, IL-11, and IL-13. The last decade there has been focused on genetic studies within genes that are important for the immune system, for SIDS with a special interest of the genes encoding the cytokines. This is because the cytokine genes are considered to be the genes most likely to explain the vulnerability to infection, and several studies have investigated these genes in an attempt to uncover associations between SIDS and different genetic variants. So far, the genes encoding IL-1, IL-6, IL-10, and TNF-α are the most investigated within SIDS research, and several studies indicate associations between specific variants of these genes and SIDS. Taken together, this may indicate that in at least a subset of SIDS predisposing genetic variants of the immune genes are involved. However, the immune system and the cytokine network are complex, and more studies are needed in order to better understand the interplay between different genetic variations and how this may contribute to an unfavorable immunological response. PMID:25750641

  4. Sudden infant death syndrome and the genetics of inflammation

    Directory of Open Access Journals (Sweden)

    Linda eFerrante

    2015-02-01

    Full Text Available Several studies report signs of slight infection prior to death in cases of sudden infant death syndrome (SIDS. Based on this, a hypothesis of an altered immunological homeostasis has been postulated. The cytokines are important cellular mediators that are crucial for infant health by regulating cell activity during the inflammatory process. The pro-inflammatory cytokines favor inflammation; the most important of these are IL-1α, IL-1β, IL-6, IL-8, IL-12, IL-18, TNF-α and IFN-γ. These cytokines are controlled by the anti-inflammatory cytokines. This is accomplished by reducing the pro-inflammatory cytokine production, and thus counteracts their biological effect. The major anti-inflammatory cytokines are interleukin 1 receptor antagonist (IL-1ra, IL-4, IL-10, IL-11, and IL-13. The last decade there has been focus on genetic studies within genes that are important for the immune system, for SIDS with a special interest of the genes encoding the cytokines. This is because the cytokine genes are considered to be the genes most likely to explain the vulnerability to infection, and several studies have investigated these genes in an attempt to uncover associations between SIDS and different genetic variants. So far the genes encoding IL-1, IL-6, IL-10 and TNF-α are the most investigated within SIDS research, and several studies indicates associations between specific variants of these genes and SIDS. Taken together this may indicate that in at least a subset of SIDS predisposing genetic variants of the immune genes are involved. However, the immune system and the cytokine network are complex, and more studies are needed in order to better understand the interplay between different genetic variations and how this may contribute to an unfavorable immunological response.

  5. [A regenerative anemia in infants: 2 cases of Pearson´s syndrome].

    Science.gov (United States)

    Martínez de Zabarte Fernández, José M; Rodríguez-Vigil Iturrate, Carmen; Martínez Faci, Cristina; García Jiménez, Inmaculada; Murillo Sanjuan, Laura; Muñoz Mellado, Ascensión

    2017-02-01

    Anemia is very common in infants. Although its causes are usually not severe and treatable, proper etiologic diagnosis should be established. When anemia is non-regenerative, it can be caused by aplastic anemia, myelodysplastic syndrome, bone marrow infiltration or hematopoietic factors deficiencies. Another possible cause is Pearson's syndrome, a rare mitochondrial disease that causes non-regenerative anemia associated with other cytopenias, pancreatic insufficiency, lactic acidosis and great variability in clinical presentation conditioned by heteroplasmy. It is characteristic to find in bone marrow studies variable vacuolization in erythroblastic progenitors and ring sideroblasts. The diagnosis is established by genetic study of mitochondrial deoxyribonucleic acid performed by Southern blot analysis (complete mitochondrial deoxyribonucleic acid amplification by polymerase chain reaction -long), obtaining 70-80% deletion of 4977 bp (NMD 8343-13459). There is no curative therapy and support treatment is the only available nowadays. Death is frequent in early years of life. Sociedad Argentina de Pediatría.

  6. Continuous distending pressure for respiratory distress syndrome in preterm infants.

    Science.gov (United States)

    Ho, J J; Subramaniam, P; Henderson-Smart, D J; Davis, P G

    2002-01-01

    Respiratory distress syndrome (RDS) is the single most important cause of morbidity and mortality in preterm infants (Greenough 1998, Bancalari 1992). Intermittent positive pressure ventilation (IPPV) with surfactant is the standard treatment for the condition. The major difficulty with IPPV is that it is invasive, resulting in airway and lung injury and contributing to the development of chronic lung disease. In spontaneously breathing preterm infants with RDS, to determine if continuous distending pressure (CDP) reduces the need for IPPV and associated morbidity without adverse effects. The standard search strategy of the Neonatal Review group was used. This included searches of the Oxford Database of Perinatal Trials, Cochrane Controlled Trials Register (The Cochrane Library, Issue 1, 2002), MEDLINE (1966-January 2002), and EMBASE (1980-January 2002), previous reviews including cross references, abstracts, conference and symposia proceedings, expert informants, journal hand searching mainly in the English language. All trials using random or quasi-random allocation of preterm infants with RDS were eligible. Interventions were continuous distending pressure including continuous positive airway pressure (CPAP) by mask, nasal prong, nasopharyngeal tube, or endotracheal tube, or continuous negative pressure (CNP) via a chamber enclosing the thorax and lower body, compared with standard care. Standard methods of the Cochrane Collaboration and its Neonatal Review Group were used, including independent assessment of trial quality and extraction of data by each author. CDP is associated with a lower rate of failed treatment (death or use of assisted ventilation) [summary RR 0.70 (0.55, 0.88), RD -0.22 (-0.35, -0.09), NNT 5 (3, 11)], overall mortality [summary RR 0.52 (0.32, 0.87), RD -0.15 (-0.26, -0.04), NNT 7 (4, 25)], and mortality in infants with birthweights above 1500 g [summary RR 0.24 (0.07, 0.84), RD -0.281 (-0.483, -0.078), NNT 4 (2, 13)]. The use of CDP is

  7. Bilateral Baker's cyst as the presenting symptom of paraneoplastic syndrome.

    Science.gov (United States)

    Shapira, A; Peshin, J; Lin, E; Gordin, A; Mendel, F; Herness, D

    1988-01-01

    Paraneoplastic syndrome is defined as a systemic malignancy producing prostaglandins or other substances that lead to various manifestations, syndromes or diseases. In the following report we present a case of a young patient complaining of bilateral Baker's cysts who ultimately was diagnosed as suffering from gastric lymphoma. Following subtotal gastrectomy the Baker's cysts disappeared with no specific treatment.

  8. Presentation of Depression in Autism and Asperger Syndrome: A Review

    Science.gov (United States)

    Stewart, Mary E.; Barnard, Louise; Pearson, Joanne; Hasan, Reem; O'Brien, Gregory

    2006-01-01

    Depression is common in autism and Asperger syndrome, but despite this, there has been little research into this issue. This review considers the current literature on the prevalence, presentation, treatment and assessment of depression in autism and Asperger syndrome. There are diagnostic difficulties when considering depression in autism and…

  9. Behavioral Markers of Emergent Stranger Anxiety in Infants and Toddlers with Fragile X Syndrome

    Science.gov (United States)

    Tonnsen, Bridgette; Scherr, Jessica; Reisinger, Debra; Roberts, Jane

    2017-01-01

    Studying anxiety in neurogenetic syndromes may inform the intersection of biological and developmental risks, facilitating effective and targeted interventions. We longitudinally examined stranger fear in infants and toddlers with fragile X syndrome (FXS; n = 46) and typical controls (n = 33), as well as associations between observed stranger fear…

  10. LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation

    Directory of Open Access Journals (Sweden)

    Ganigara Madhusudan

    2011-01-01

    Full Text Available In LEOPARD syndrome, mutations affecting exon 13 of the PTPN11 gene have been correlated with a rapidly progressive severe biventricular obstructive hypertrophic cardiomyopathy (HCM. This is a report of early onset severe HCM in an infant with LEOPARD syndrome and an unusual mutation in exon 13, showing genotype-phenotype correlation.

  11. The HELLP-syndrome; maternal-fetal outcome and follow up of infants

    NARCIS (Netherlands)

    Roelofsen, AC; van Pampus, MG; Aarnoudse, JG

    2003-01-01

    Objective: To investigate maternal-fetal outcome of infants born after pregnancies complicated by (H)ELLP syndrome. Study design: A retrospective cohort study was performed on patients with the HELLP or ELLP syndrome. Maternal and perinatal complications were recorded. The follow-up period of the

  12. Concurrent Relations between Face Scanning and Language: A Cross-Syndrome Infant Study.

    Directory of Open Access Journals (Sweden)

    Dean D'Souza

    Full Text Available Typically developing (TD infants enhance their learning of spoken language by observing speakers' mouth movements. Given the fact that word learning is seriously delayed in most children with neurodevelopmental disorders, we hypothesized that this delay partly results from differences in visual face scanning, e.g., focusing attention away from the mouth. To test this hypothesis, we used an eye tracker to measure visual attention in 95 infants and toddlers with Down syndrome (DS, fragile X syndrome (FXS, and Williams syndrome (WS, and compared their data to 25 chronological- and mental-age matched 16-month-old TD controls. We presented participants with two talking faces (one on each side of the screen and a sound (/ga/. One face (the congruent face mouthed the syllable that the participants could hear (i.e., /ga/, while the other face (the incongruent face mouthed a different syllable (/ba/ from the one they could hear. As expected, we found that TD children with a relatively large vocabulary made more fixations to the mouth region of the incongruent face than elsewhere. However, toddlers with FXS or WS who had a relatively large receptive vocabulary made more fixations to the eyes (rather than the mouth of the incongruent face. In DS, by contrast, fixations to the speaker's overall face (rather than to her eyes or mouth predicted vocabulary size. These findings suggest that, at some point in development, different processes or strategies relating to visual attention are involved in language acquisition in DS, FXS, and WS. This knowledge may help further explain why language is delayed in children with neurodevelopmental disorders. It also raises the possibility that syndrome-specific interventions should include an early focus on efficient face-scanning behaviour.

  13. Concurrent Relations between Face Scanning and Language: A Cross-Syndrome Infant Study

    Science.gov (United States)

    D’Souza, Dean; D’Souza, Hana; Johnson, Mark H.; Karmiloff-Smith, Annette

    2015-01-01

    Typically developing (TD) infants enhance their learning of spoken language by observing speakers’ mouth movements. Given the fact that word learning is seriously delayed in most children with neurodevelopmental disorders, we hypothesized that this delay partly results from differences in visual face scanning, e.g., focusing attention away from the mouth. To test this hypothesis, we used an eye tracker to measure visual attention in 95 infants and toddlers with Down syndrome (DS), fragile X syndrome (FXS), and Williams syndrome (WS), and compared their data to 25 chronological- and mental-age matched 16-month-old TD controls. We presented participants with two talking faces (one on each side of the screen) and a sound (/ga/). One face (the congruent face) mouthed the syllable that the participants could hear (i.e., /ga/), while the other face (the incongruent face) mouthed a different syllable (/ba/) from the one they could hear. As expected, we found that TD children with a relatively large vocabulary made more fixations to the mouth region of the incongruent face than elsewhere. However, toddlers with FXS or WS who had a relatively large receptive vocabulary made more fixations to the eyes (rather than the mouth) of the incongruent face. In DS, by contrast, fixations to the speaker’s overall face (rather than to her eyes or mouth) predicted vocabulary size. These findings suggest that, at some point in development, different processes or strategies relating to visual attention are involved in language acquisition in DS, FXS, and WS. This knowledge may help further explain why language is delayed in children with neurodevelopmental disorders. It also raises the possibility that syndrome-specific interventions should include an early focus on efficient face-scanning behaviour. PMID:26426329

  14. Concurrent Relations between Face Scanning and Language: A Cross-Syndrome Infant Study.

    Science.gov (United States)

    D'Souza, Dean; D'Souza, Hana; Johnson, Mark H; Karmiloff-Smith, Annette

    2015-01-01

    Typically developing (TD) infants enhance their learning of spoken language by observing speakers' mouth movements. Given the fact that word learning is seriously delayed in most children with neurodevelopmental disorders, we hypothesized that this delay partly results from differences in visual face scanning, e.g., focusing attention away from the mouth. To test this hypothesis, we used an eye tracker to measure visual attention in 95 infants and toddlers with Down syndrome (DS), fragile X syndrome (FXS), and Williams syndrome (WS), and compared their data to 25 chronological- and mental-age matched 16-month-old TD controls. We presented participants with two talking faces (one on each side of the screen) and a sound (/ga/). One face (the congruent face) mouthed the syllable that the participants could hear (i.e., /ga/), while the other face (the incongruent face) mouthed a different syllable (/ba/) from the one they could hear. As expected, we found that TD children with a relatively large vocabulary made more fixations to the mouth region of the incongruent face than elsewhere. However, toddlers with FXS or WS who had a relatively large receptive vocabulary made more fixations to the eyes (rather than the mouth) of the incongruent face. In DS, by contrast, fixations to the speaker's overall face (rather than to her eyes or mouth) predicted vocabulary size. These findings suggest that, at some point in development, different processes or strategies relating to visual attention are involved in language acquisition in DS, FXS, and WS. This knowledge may help further explain why language is delayed in children with neurodevelopmental disorders. It also raises the possibility that syndrome-specific interventions should include an early focus on efficient face-scanning behaviour.

  15. Síndrome de muerte súbita del lactante Sudden infant death syndrome

    Directory of Open Access Journals (Sweden)

    María Marlen Avalos González

    2009-09-01

    Full Text Available En nuestra área de salud se presentó un caso de muerte súbita del lactante, en un paciente de 7 meses de edad, masculino, con antecedentes de salud anterior y antecedentes patológicos familiares negativos. Fue inexplicable su muerte, aun después de realizada una necropsia completa, la investigación de la escena de la muerte y la evaluación de la historia clínica del niño y su familia. El síndrome de muerte súbita del lactante es de causa desconocida, lo más probable es que sea de etiología multifactorial, se debe de estar alerta para evitar los factores que se asocian con mayor frecuencia a estos niños y así prevenir la aparición de este síndrome.In our health area, there was a case of sudden infant death, in a patient aged 7 months, male, with previous health backgrounds and negative family pathologic backgrounds. Its death was inexplicable, even after a complete necropsy, the research of death scene, and the medical record assessment of child and its family. Sudden infant death syndrome is an unknown cause, probably of multifactor origin. We must to be on the alert to avoid the more frequent factors associating with these children, and thus to prevent appearance of this syndrome.

  16. An unusual presentation of Boerhaave Syndrome: a case report

    Science.gov (United States)

    O’Kelly, Fardod; Lim, Kheng Tian; Cooke, Fiachra; Ravi, Narayanasamy

    2009-01-01

    We present a unique case of Boerhaave Syndrome that may highlight the spectrum of barotrauma from a Mallory-Weiss tear to full-thickness perforation. In this case, perforation only became evident following air insufflation at endoscopy. PMID:19830042

  17. Capgras syndrome presenting in an adolescent girl in the Caribbean.

    Science.gov (United States)

    Gibson, R C; Lowe, G A; Morgan, K A D; Henryl, M; De La Haye, W; Irons, A

    2013-01-01

    The case of a 16-year old Jamaican girl who presented to the psychiatric service of a general hospital with features of Capgras syndrome is presented. Her history, treatment, progress and relevant psychodynamic and neurocognitive issues are explored. This is the first known published case of an adolescent with Capgras syndrome from the Caribbean. The case highlights that the syndrome may occur in different cultural contexts and that clinicians should be sensitive to its existence in order to avert under-diagnosis or misdiagnosis.

  18. EEC syndrome sans clefting: Variable clinical presentations in a family

    Directory of Open Access Journals (Sweden)

    Thakkar Sejal

    2007-01-01

    Full Text Available Ectrodactyly, ectodermal dysplasia and cleft palate/lip syndrome (EEC is a rare autosomal dominant syndrome with varied presentation and is actually a multiple congenital anomaly syndrome leading to intra- and interfamilial differences in severity because of its variable expression and reduced penetrance. The cardinal features include ectrodactyly, sparse, wiry, hypopigmented hair, peg-shaped teeth with defective enamel and cleft palate/lip. A family comprising father, daughter and son presented to us with split hand-split foot deformity (ectrodactyly, epiphora, hair changes and deafness with variable involvement in each family member.

  19. Early Onset Marfan Syndrome: Atypical Clinical Presentation of Two Cases

    Directory of Open Access Journals (Sweden)

    Ozyurt Abdullah

    2015-06-01

    Full Text Available Early onset Marfan Syndrome (eoMFS is a rare, severe form of Marfan Syndrome (MFS. The disease has a poor prognosis and most patients present with resistance to heart failure treatment during the newborn period. This report presents two cases of eoMFS with similar clinical features diagnosed in the newborn period and who died at an early age due to the complications related to the involvement of the cardiovascular system.

  20. Meige's Syndrome: Rare Neurological Disorder Presenting as Conversion Disorder.

    Science.gov (United States)

    Debadatta, Mohapatra; Mishra, Ajay K

    2013-07-01

    Meige's syndrome is a rare neurological syndrome characterized by oromandibular dystonia and blepharospasm. Its pathophysiology is not clearly determined. A 35-year-old female presented to psychiatric department with blepharospasm and oromandibular dystonia with clinical provisional diagnosis of psychiatric disorder (Conversion Disorder). After thorough physical examination including detailed neurological exam and psychiatric evaluation no formal medical or psychiatric diagnosis could be made. The other differential diagnoses of extra pyramidal symptom, tardive dyskinesia, conversion disorder, anxiety disorder were ruled out by formal diagnostic criteria. Consequently with suspicion of Meige's syndrome she was referred to the department of Neurology and the diagnosis was confirmed. Hence, Meige's syndrome could be misdiagnosed as a psychiatric disorder such as conversion disorder or anxiety disorder because clinical features of Meige's syndrome are highly variable and affected by psychological factors and also can be inhibited voluntarily to some extent.

  1. A case of piriformis syndrome presenting as radiculopathy

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    Rammurthy Kulkarni

    2015-01-01

    Full Text Available Piriformis syndrome has always remained as a diagnostic dilemma because of its varied presentation. Piriformis syndrome is myofascial dysfunction syndrome which causes pain not only because of trigger points within the muscle but also due to peripheral neuritis of the sciatic nerve. The sciatic neuritis is due to compression of the nerve as it passes through the greater sciatic foramen. The symptoms of sciatic nerve entrapment caused by the piriformis syndrome can be easily mistaken for radiculopathy as the nerve entrapment causes pain which radiates down below the knee and can go up to the foot. Electromyography (EMG and nerve conduction velocity (NCV studies can help differentiating these two conditions and can eliminate the need for the magnetic resonance imaging (MRI. In this paper, we have reported a case of piriformis syndrome which mimicked S 1 radiculopathy, where diagnosis was confirmed by diagnostic piriformis injection.

  2. Turner Syndrome in Girls Presenting with Coarctation of the Aorta.

    Science.gov (United States)

    Eckhauser, Aaron; South, Sarah T; Meyers, Lindsay; Bleyl, Steven B; Botto, Lorenzo D

    2015-11-01

    To evaluate the frequency of Turner syndrome in a population-based, statewide cohort of girls with coarctation of the aorta. The Utah Birth Defects Network was used to ascertain a cohort of girls between 1997 and 2011 with coarctation of the aorta. Livebirths with isolated coarctation of the aorta or transverse arch hypoplasia were included and patients with complex congenital heart disease not usually seen in Turner syndrome were excluded. Of 244 girls with coarctation of the aorta, 77 patients were excluded, leaving a cohort of 167 girls; 86 patients (51%) had chromosomal studies and 21 (12.6%) were diagnosed with Turner syndrome. All patients were diagnosed within the first 4 months of life and 5 (24%) were diagnosed prenatally. Fifteen patients (71%) had Turner syndrome-related findings in addition to coarctation of the aorta. Girls with mosaicism were less likely to have Turner syndrome-associated findings (3/6 mosaic girls compared with 12/17 girls with non-mosaic 45,X). Twelve girls (57%) diagnosed with Turner syndrome also had a bicommissural aortic valve. At least 12.6% of girls born with coarctation of the aorta have karyotype-confirmed Turner syndrome. Such a high frequency, combined with the clinical benefits of an early diagnosis, supports genetic screening for Turner syndrome in girls presenting with coarctation of the aorta. Copyright © 2015 Elsevier Inc. All rights reserved.

  3. Webinar Presentation: Effects of Formula Supplementation on the Composition of the Infant Microbiome

    Science.gov (United States)

    This presentation, Effects of Formula Supplementation on the Composition of the Infant Microbiome, was given at the NIEHS/EPA Children's Centers 2015 Webinar Series: Food and Children's Health held on Dec. 9, 2015.

  4. Atypical presentation of HELLP syndrome: clinical case report

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    Juan Manuel Tobar Parra

    2017-12-01

    Full Text Available Objective: To describe a case of HELLP syndrome with atypical presentation form. Background: HELLP syndrome is a complication of preeclampsia, characterized by: haemolysis, elevation of liver enzymes and thrombocytopenia; Can present atypical, without hypertension or proteinuria, 10-20% of the cases. Case report: 38 year old female patient, with a pregnancy of 38.5 weeks of gestation, treated at the Hospital Universitario San José de Popayán (Colombia. Atypical HELLP syndrome is diagnosed in a pregnant woman with thrombocytopenia, impaired liver enzymes, but no evidence of proteinuria or hypertension. Gestation is terminated by cesarean section and magnesium sulfate is given for 24 hours, with adequate post-surgical evolution, clinical improvement of the symptomatology presented, normalization of liver enzymes and platelet elevation. Conclusion: Knowledge of this syndrome, although of rare occurrence, allows a fast action, an effective diagnosis and treatment, to avoid morbidity and greater maternal fetal mortality.

  5. Atrioventricular reciprocal rhythm and chronic reciprocating tachycardia in a newborn infant with concealed Wolff-Parkinson-White syndrome.

    Science.gov (United States)

    Sung, R J; Ferrer, P; Garcia, O L; Castellanos, A; Gelband, H

    1977-01-01

    A case of atrioventricular reciprocal rhythm and chronic reciprocating tachycardia in a newborn infant is presented. Electrophysiological studies suggest that these rhythm disturbances are related to the presence of a right-sided atrioventricular accessory pathway capable only of retrograde conduction (concealed Wolff-Parkinson-White syndrome). The technique of recording the sequence of atrial activation during the tachycardia is described and its clinical importance emphasised. PMID:884032

  6. Marfan's syndrome presenting with abdominal aortic aneurysm: A ...

    African Journals Online (AJOL)

    We present the case of a 16-year old student with Marfan's syndrome and abdominal aortic aneurysm who presented with a diagnostic conundrum. He presented with a three months history of progressive painful left upper abdominal mass and back pain. It became severe in the last two weeks before presentation and was ...

  7. Positive predictive value of the infant respiratory distress syndrome diagnosis in the Danish National Patient Registry

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    Thygesen SK

    2013-08-01

    Full Text Available Sandra Kruchov Thygesen, Morten Olsen, Christian Fynbo ChristiansenDepartment of Clinical Epidemiology, Aarhus University Hospital, Aarhus, DenmarkBackground: Infant respiratory distress syndrome (IRDS is the most common respiratory disease in preterm infants, and is associated with considerable morbidity and mortality. Valid data on IRDS are important in clinical epidemiological research.Objectives: The objective of this study was to estimate the positive predictive value (PPV of the IRDS diagnosis registered in the population-based Danish National Patient Registry according to the International Classification of Diseases, 8th and 10th revisions.Methods: Between January 1, 1977 and December 31, 2008, we randomly selected three patients per year, 96 in total, who were registered with an IRDS diagnosis in the Danish National Patient Registry and living in the northern part of Denmark. Data on the infants included information on the presence of predefined clinical symptoms. We defined IRDS as the presence of at least two of four clinical symptoms (tachypnea, retractions or nasal flaring, grunting, and central cyanosis, which had to be present for more than 30 minutes. Using medical record review as the reference standard, we computed the positive predictive value of the registered IRDS diagnosis including 95% confidence intervals (CIs.Results: We located the medical record for 90 of the 96 patients (94%, and found an overall PPV of the IRDS diagnosis of 81% (95% CI 72%–88%. This did not vary substantially between primary and secondary diagnoses. The PPV was higher, at 89% (95% CI 80%–95%, for preterm infants born before 37 weeks of gestation.Conclusion: The PPV of the IRDS diagnosis in the Danish National Patient Registry is reasonable when compared with symptoms described in the corresponding medical records. The Danish National Patient Registry is a useful data source for studies of IRDS, particularly if restricted to preterm infants

  8. Iatrogenic Cushing's syndrome in children presenting at Children's Hospital Lahore using nappy rash ointments.

    Science.gov (United States)

    Sattar, Hina; Manzoor, Jaida; Mirza, Liaqat; Sheikh, Abdul Malik; Butt, Taeed Ahmad

    2015-05-01

    To study the characteristics of infants and children presenting with iatrogenic Cushing's Syndrome due to nappy rash ointments. The descriptive study was conducted at the Children's Hospital, Lahore, from April to September 2013, and comprised patients presenting with cushingoid features and history of using nappy rash ointments. Patients having Cushing's Syndrome due to causes other than iatrogenic were excluded and so were those taking oral or parenteral steroids due to skin allergy, renal or respiratory disease. Demographic data, history and examination of all patients were recorded on a proforma and results were analysed using SPSS 16. Of the total 18 patients, 13(72%) were girls and 5(27%) were boys. Eight (44.4%) patients were younger than 6 months, 6(33.3%) were between 6 months to 1 year, while 4(22.2%) were between 12 and 18 months of age. Clobetasol alone was the most frequently used agent responsible in 13(72%) cases. Duration of use of steroid ointment was as short as 3 weeks to as much as 1 year. All the patients were using disposable diapers. Ointment was prescribed by a doctor in 5(27%) cases and self-prescribed (relative or neighbour) in 13(72%). Self-medication and prolonged use of potent steroid ointments are major contributors in development of iatrogenic Cushing's Syndrome in infants and children. Younger age, female gender and use of disposable diapers were other important predisposing factors.

  9. Multiple serotonergic brainstem abnormalities in sudden infant death syndrome.

    Science.gov (United States)

    Paterson, David S; Trachtenberg, Felicia L; Thompson, Eric G; Belliveau, Richard A; Beggs, Alan H; Darnall, Ryan; Chadwick, Amy E; Krous, Henry F; Kinney, Hannah C

    2006-11-01

    The serotonergic (5-hydroxytryptamine [5-HT]) neurons in the medulla oblongata project extensively to autonomic and respiratory nuclei in the brainstem and spinal cord and help regulate homeostatic function. Previously, abnormalities in 5-HT receptor binding in the medullae of infants dying from sudden infant death syndrome (SIDS) were identified, suggesting that medullary 5-HT dysfunction may be responsible for a subset of SIDS cases. To investigate cellular defects associated with altered 5-HT receptor binding in the 5-HT pathways of the medulla in SIDS cases. Frozen medullae from infants dying from SIDS (cases) or from causes other than SIDS (controls) were obtained from the San Diego Medical Examiner's office between 1997 and 2005. Markers of 5-HT function were compared between SIDS cases and controls, adjusted for postconceptional age and postmortem interval. The number of samples available for each analysis ranged from 16 to 31 for SIDS cases and 6 to 10 for controls. An exploratory analysis of the correlation between markers and 6 recognized risk factors for SIDS was performed. 5-HT neuron count and density, 5-HT(1A) receptor binding density, and 5-HT transporter (5-HTT) binding density in the medullary 5-HT system; correlation between these markers and 6 recognized risk factors for SIDS. Compared with controls, SIDS cases had a significantly higher 5-HT neuron count (mean [SD], 148.04 [51.96] vs 72.56 [52.36] cells, respectively; P<.001) and 5-HT neuron density (P<.001), as well as a significantly lower density of 5-HT(1A) receptor binding sites (P

  10. Gitelman’s syndrome presented with tetany: a case report

    Directory of Open Access Journals (Sweden)

    Md. Zahid Alam

    2012-01-01

    Full Text Available Gitelman’s syndrome is an autosomal recessive disorder caused by a defect of the thiazide-sensitive sodium chloride co-transporter at the distal tubule, characterized by hypomagnesemia, hypokalemic alkalosis and hypocalciuria. We report a case of Gitlman’s syndrome in a 44 years old female patient who presented with generalized muscle weakness and carpal spasm and characteristic electrolyte abnormalities. This condition is sometimes confused with Bartter’s syndrome. Ibrahim Med. Coll. J. 2012; 6(1: 34-36

  11. Gitelman′s syndrome: Rare presentation with growth retardation

    Directory of Open Access Journals (Sweden)

    A Gaur

    2014-01-01

    Full Text Available Gitelman′s syndrome is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis, hypokalemia, hypomagnesaemia, hypocalciuria, hyperreninemia and without hypertension. Gitelman′s syndrome is caused by mutations of the SLC12A3 gene, which encodes the Na/Cl co-transporter (NCCT in the distal convoluted tubule. Majority of cases manifest during adolescence or adulthood and growth retardation is not the common feature. We report a rare presentation of Gitelman′s syndrome in a four-year-old boy with growth retardation.

  12. Metastatic neuroendocrine tumor with initial presentation of orbital apex syndrome

    Directory of Open Access Journals (Sweden)

    Yen-Yu Huang

    2017-03-01

    Full Text Available The possible etiologies of orbital apex syndrome range from inflammatory, infectious, neoplastic, iatrogenic/traumatic, to vascular processes. In patients without obvious infection or systemic cancer history, judicious use of corticosteroids is a reasonable strategy. We describe a 64-year-old man who presented with orbital apex syndrome and had progressed to total visual loss in three days after admission. Radiological imaging and pathological studies were consistent with a neuroendocrine tumor with multiple metastases. We recommend that a biopsy-proven specimen is warranted in patient with orbital apex syndrome even without a cancer history.

  13. Nelson′s syndrome presenting as bilateral oculomotor palsy

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    Abhay Gundgurthi

    2013-01-01

    Full Text Available Nelson′s syndrome refers to a clinical spectrum arising from progressive enlargement of pituitary adenoma and elevated adrenocorticotrophic hormone after total bilateral adrenalectomy for Cushing′s disease comprising of hyperpigmentation, visual field defects which can be life threatening. We report here a 50-year male presenting with rapid onset of Nelson′s syndrome with an unusual finding of bilateral oculomotor palsy mistakenly treated as ocular myasthenia.

  14. Atypical Presentation of Sjögren-Larsson Syndrome

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    D. Papathemeli

    2017-01-01

    Full Text Available Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal intelligence (IQ 95. This syndrome should be suspected when a child presents with ichthyosis and spastic diplegia or tetraplegia, even if intelligence is normal.

  15. Munchausen Syndrome: A Case with Presenting Sudden Hearing Loss

    Directory of Open Access Journals (Sweden)

    Murat Ozturk

    2013-04-01

    Full Text Available Munchausen syndrome is a psychiatric disorder that patients direct professionals with plausible, feigned, factitious symptoms. It%u2019s uncommon in otolaryngology clinics. We present a patient, complaint with sudden hearing loss and vertigo, and who underwent additional medical and invasive treatment in this paper. Patients with Munchausen syndrome allow invasive medical care easily, and they can be very convincing. It has to be diagnosed and kept in mind because of avoiding from unnecessary treatment.

  16. Clinical presentation of infants hospitalised with pertussis | Kahl ...

    African Journals Online (AJOL)

    Background. Despite the widespread use of pertussis vaccine, there has been a resurgence of pertussis cases in developed and developing countries. South Africa lacks data regarding clinical presentation and healthcare impact of pertussis. Objectives. To describe the clinical presentation and healthcare impact in ...

  17. More than meets the eye: infant presenting with hypoxic ischaemic encephalopathy.

    Science.gov (United States)

    Sen, Kuntal; Agarwal, Rajkumar

    2018-04-05

    We report a newborn infant who presented with poor Apgar scores and umbilical artery acidosis leading to the diagnosis of hypoxic ischaemic encephalopathy. During the course of the infant's hospitalisation, subsequent workup revealed an underlying genetic cause that masqueraded as hypoxic ischaemic encephalopathy. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  18. Homicidal acute formalin poisoning in an infant from a rural sericulture family presenting with multisystem failure.

    Science.gov (United States)

    Y C, Beeregowda; A, Srihari; Pradan, Shashi K; P, Susheela; Y C, Manjunatha

    2013-05-01

    Acute poisoning of formalin is rare because of its strong irritating effect and alarming odor. Although few cases of acute poisoning in adults have been reported in literature, to our knowledge, this is the first case report of formalin poisoning in an infant presenting with multisystem failure. Despite proper supportive treatment in the absence of antidote, the infant died within 13 hours after deliberate poisoning.

  19. Pseudo-Bartter syndrome in an infant with congenital chloride diarrhoea

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    Igrutinović Zoran

    2011-01-01

    Full Text Available Introduction. Pseudo-Bartter syndrome encompasses a heterogenous group of disorders similar to Bartter syndrome. We are presenting an infant with pseudo-Bartter syndrome caused by congenital chloride diarrhoea. Case Outline. A male newborn born in the 37th gestational week (GW to young healthy and non-consanguineous parents. In the 35th GW a polyhydramnios with bowel dilatation was verified by ultrasonography. After birth he manifested several episodes of hyponatremic dehydration with hypochloraemia, hypokalaemia and metabolic alkalosis, so as Bartter syndrome was suspected treatment with indomethacin, spironolactone and additional intake of NaCl was initiated. However, this therapy gave no results, so that at age six months he was rehospitalized under the features of persistent watery diarrhoea, vomiting, dehydration and acute renal failure (serum creatinine 123 μmol/L. The laboratory results showed hyponatraemia (123 mmol/L, hypokalaemia (3.1 mmol/L, severe hypochloraemia (43 mmol/L, alcalosis (blood pH 7.64, bicarbonate 50.6 mmol/L, high plasma renin (20.6 ng/ml and aldosterone (232.9 ng/ml, but a low urinary chloride concentration (2.1 mmol/L. Based on these findings, as well as the stool chloride concentration of 110 mmol/L, the patient was diagnosed congenital chloride diarrhoea. In further course, the patient was treated by intensive fluid, sodium and potassium supplementation which resulted in the normalization of serum electrolytes, renal function, as well as his mental and physical development during 10 months of follow-up. Conclusion. Persistent watery diarrhoea with a high concentration of chloride in stool is the key finding in the differentiation of congenital chloride diarrhoea from Bartter syndrome. The treatment of congenital chloride diarrhoea consists primarily of adequate water and electrolytes replacement.

  20. [Mothers' behavior regarding infant sleep position: effects of the last public campaign to prevent sudden infant death syndrome].

    Science.gov (United States)

    Vaivre-Douret, L; Dos Santos, C; Richard, A; Jarjanette, V; Paniel, B J; Cabrol, D

    2000-12-01

    To define infant care practices in maternity units and those subsequently adopted at home. Using these data, we evaluated the acceptance and application of recommendations issued by the previous public education campaign on infant sleeping position as related to sudden infant death syndrome. A survey was carried out in two maternity units (Port-Royal and Créteil) and in one pediatric consultation unit (affiliated with Port-Royal maternity). The mixed position (side or back) is used equally with, respectively, 47% at Port-Royal and 45% at Créteil. The supine sleeping position (French public health recommendations) is used by 12% of the mothers at Port-Royal and by 40% at Créteil. It appears that hospital nurseries play an important role in determining the mother's preference for the sleeping position (64% at Port-Royal and 54% at Créteil), but it does not adequately explain all mothers' responses. However, as the infants mature (> two months old), the more spontaneously they changed their sleeping position. All the infants placed in a side sleeping position moved to a supine sleeping position during the night. Upon awakening, infants were found mostly in the supine position (in contrast to the national public education campaign). Our results show that mothers and hospital nurseries were distressed in terms of ensuring the supine sleeping position of the infant. New choices of sleeping positions were initiated by mothers. For example, they used the side position after feedings essentially in the case of reflux or during the daytime. The supine position was used when the mothers were assured that any problems had been avoided or only during the night.

  1. Phakomatosis pigmentovascularis presenting with Sturge-Weber syndrome and Klippel-Trenaunay syndrome

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    Sumit Sen

    2015-01-01

    Full Text Available Phakomatosis pigmentovascularis (PPV is a rare cutaneous disorder characterized by combination of capillary malformation and other pigmented naevi. Four types and two subtypes have been described where subtype ′a′ present only with cutaneous form and subtype ′b′ also with systemic association like in Sturge-Weber syndrome or Klippel-Trenaunay syndrome. Hereby, we report a case where our patient presented with port-wine stain, Nevus of Ota, Sturge-Weber syndrome, and Klippel-Trenaunay syndrome; which has made it a rare combination.

  2. Phakomatosis Pigmentovascularis Presenting with Sturge-Weber Syndrome and Klippel-Trenaunay Syndrome

    Science.gov (United States)

    Sen, Sumit; Bala, Sanchaita; Halder, Chinmay; Ahar, Rahul; Gangopadhyay, Anusree

    2015-01-01

    Phakomatosis pigmentovascularis (PPV) is a rare cutaneous disorder characterized by combination of capillary malformation and other pigmented naevi. Four types and two subtypes have been described where subtype ‘a’ present only with cutaneous form and subtype ‘b’ also with systemic association like in Sturge-Weber syndrome or Klippel-Trenaunay syndrome. Hereby, we report a case where our patient presented with port-wine stain, Nevus of Ota, Sturge-Weber syndrome, and Klippel-Trenaunay syndrome; which has made it a rare combination. PMID:25657402

  3. Interim obturator in an infant with Treacher Collins syndrome: Review and chairside modification in impression making

    Directory of Open Access Journals (Sweden)

    Sudhir Bhandari

    2011-01-01

    Full Text Available Treacher Collins syndrome has been described as a syndrome involving 1st and 2nd branchial arches, affecting various organs in the craniofacial region. Affected infants report with nasal regurgitation and minimal dietary intake due to cleft palate, consequently show delayed and retarded growth. The situation is further complicated when the repair of the palatal defect is postponed due to delayed milestones. At this juncture, it is of paramount importance to intervene prosthetically and close the defect with the aid of an interim obturator. Herein we describe a simple, yet successful, chairside approach to make an impression of an infant without the aid of any kind of anesthesia.

  4. Conus Medullaris Arachnoid Cyst Presenting as Cauda Equina Syndrome.

    Science.gov (United States)

    Sharif, Salman; Afsar, Afifa; Qadeer, Mohsin

    2017-01-01

    Intradural arachnoid cysts are a rare cause of spinal cord and nerve root compression. Primarily, they are present in the thoracic region posteriorly. We report a 25-year-old man who had an intradural arachnoid cyst at the level of conus medullaris presenting with cauda equina syndrome, which is very rare.

  5. An unusual ocular presentation of acquired immune deficiency syndrome

    Directory of Open Access Journals (Sweden)

    Arunachalam Cynthia

    2008-01-01

    Full Text Available A 50-year-old male who presented with bilateral keratomalacia and on subsequent evaluation was found to be human immunodeficiency virus (HIV positive is being reported. A MEDLINE search of the literature did not reveal any report of keratomalacia as the initial presenting feature of HIV/ acquired immune deficiency syndrome.

  6. Thoracic Outlet Syndrome: A Significant Family Genetic Phenotypic Presentation.

    Science.gov (United States)

    Janák, David; Novotný, Karel; Roček, Miloslav; Rohn, Vilém

    We report on a very rare case of diagnosis and successful surgical treatment of three young family members with a four-fold presentation of thoracic outlet syndrome. In the relevant family case, we are considering and discussing the population incidence, a possible HOX genes disorder, and a significant phenotypic presentation.

  7. Infant care practices related to sudden infant death syndrome in South Asian and White British families in the UK.

    Science.gov (United States)

    Ball, Helen L; Moya, Eduardo; Fairley, Lesley; Westman, Janette; Oddie, Sam; Wright, John

    2012-01-01

    In the UK, infants of South Asian parents have a lower rate of sudden infant death syndrome (SIDS) than White British infants. Infant care and life style behaviours are strongly associated with SIDS risk. This paper describes and explores variability in infant care between White British and South Asian families (of Bangladeshi, Indian or Pakistani origin) in Bradford, UK (the vast majority of which were Pakistani) and identifies areas for targeted SIDS intervention. A cross-sectional telephone interview study was conducted involving 2560 families with 2- to 4-month-old singleton infants enrolled in the Born in Bradford cohort study. Outcome measures were prevalence of self-reported practices in infant sleeping environment, sharing sleep surfaces, breast feeding, use of dummy or pacifier, and life style behaviours. We found that, compared with White British infants, Pakistani infants were more likely to: sleep in an adult bed (OR = 8.48 [95% CI 2.92, 24.63]); be positioned on their side for sleep (OR = 4.42 [2.85, 6.86]); have a pillow in their sleep environment (OR = 9.85 [6.39, 15.19]); sleep under a duvet (OR = 3.24 [2.39, 4.40]); be swaddled for sleep (OR = 1.49 [1.13, 1.97]); ever bed-share (OR = 2.13 [1.59, 2.86]); regularly bed-share (OR = 3.57 [2.23, 5.72]); ever been breast-fed (OR = 2.00 [1.58, 2.53]); and breast-fed for 8+ weeks (OR = 1.65 [1.31, 2.07]). Additionally, Pakistani infants were less likely to: sleep in a room alone (OR = 0.05 [0.03, 0.09]); use feet-to-foot position (OR = 0.36 [0.26, 0.50]); sleep with a soft toy (OR = 0.52 [0.40, 0.68]); use an infant sleeping bag (OR = 0.20 [0.16, 0.26]); ever sofa-share (OR = 0.22 [0.15, 0.34]); be receiving solid foods (OR = 0.22 [0.17, 0.30]); or use a dummy at night (OR = 0.40 [0.33, 0.50]). Pakistani infants were also less likely to be exposed to maternal smoking (OR = 0.07 [0.04, 0.12]) and to alcohol consumption by either parent. No difference was found in the prevalence of prone sleeping (OR = 1

  8. Branchio-oto-renal syndrome presenting with syndrome of hyporeninemic hypoaldosteronism

    Directory of Open Access Journals (Sweden)

    Jane Jackie David

    2017-01-01

    Full Text Available Branchio-oto-renal (BOR syndrome is an autosomal dominant, clinically heterogeneous disorder characterized by branchial arch anomalies, hearing impairment, and renal malformations. We report the case of a 10-year-old boy with BOR syndrome who presented with hyperkalemic hyperchloremic metabolic acidosis due to hyporeninemic hypoaldosteronism. The child also had mental retardation and spastic diplegia which have hitherto not been described in BOR syndrome.

  9. Steinert's syndrome presenting as anal incontinence: a case report

    Directory of Open Access Journals (Sweden)

    Uzum Ayse

    2011-08-01

    Full Text Available Abstract Introduction Myotonic dystrophy (MD or Steinert's syndrome is a rare cause of chronic diarrhea and anal incontinence. In the presence of chronic diarrhea and fecal incontinence with muscle weakness, neuromuscular disorders such as myotonic dystrophy should be considered in the differential diagnosis. Case Presentation We present the case of a 45-year-old Turkish man with Steinert's syndrome, who was not diagnosed until the age of 45. Conclusions In clinical practice, the persistence of diarrhea and fecal incontinence with muscle weakness should suggest that the physician perform an anal manometric study and electromyography. Neuromuscular disorders such as myotonic dystrophy should be considered in the differential diagnosis.

  10. [Systemic lupus erythematosus presenting as Stevens-Johnson syndrome].

    Science.gov (United States)

    Bellakhal, S; Ben Kaab, B; Teyeb, Z; Souissi, A; Derbel, F; Douggui, M-H

    2015-09-01

    Stevens-Johnson syndrome and toxic epidermal necrolysis are life-threatening dermatological conditions. Their most common cause is medication. However, in a small proportion of patients these dermatological conditions could be the first presentation of systemic lupus erythematosus. We now describe a 34-year-old patient who presented with manifestations of Stevens-Johnson as a first feature of systemic lupus erythematosus. Systemic lupus erythematosus reveled by Stevens-Johnson syndrome has been infrequently reviewed in the previous literature. This diagnosis should be considered when cutaneous adverse drug reactions occur without clear drug causality. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  11. Visceral Myopathy Presenting as Acute Appendicitis and Ogilvie Syndrome

    OpenAIRE

    Kharbuja, Punyaram; Thakur, Raghvendra; Suo, Jian

    2013-01-01

    Background. Visceral myopathy is rare pathological condition of gastrointestinal tract with uncertain clinical presentation and unknown etiology. It often presents with symptoms of chronic intestinal pseudoobstruction of colon. We report a case of visceral myopathy which presented to us as acute appendicitis and Ogilvie syndrome, and we managed it surgically. Method and Result. A case report of 20-year female clinically presented as acute appendicitis and we performed laparoscopic exploratio...

  12. Effectiveness of a presentation on infant oral health care for parents.

    Science.gov (United States)

    Rothe, Vincent; Kebriaei, Amy; Pitner, Sheryl; Balluff, Mary; Salama, Fouad

    2010-01-01

    The aim of this study was to evaluate an infant oral health education programme, using a pre-post test design, for parents attending a paediatric clinic. The subjects were parents attending the well baby appointments at 3, 6, and 9 months of age. The study participants were men and women, all with an infant between 3 and 12 months of age. A 16 question assessment in the form of a questionnaire was completed immediately before and after the introduction of a 30 min educational intervention in the form of a PowerPoint presentation and a video of infant oral hygiene for parents. The parents completed the questionnaire twice (pre-post test design) in the same visit. Recruited parents attended only one presentation. The presentation educated parents about infant oral health and provided anticipatory guidance. Forty-seven parents or caretakers participated in the study. On the pre-test 28% had a score of 70% or less, and on the post-test 87% got a score of 88% or better. On the pre-test, 72% had a score of 70% or higher, and on the post-test 87% got a score of 88% or higher. Most parents (80%) reported that the presentation was helpful and indicated that the information would change the way they care for their baby's teeth at home. This study demonstrated the effectiveness of a 30 min PowerPoint and Video presentation in improving the oral health knowledge of parents caring for an infant.

  13. Neuroimaging findings (ultrasonography, CT, MRI) in 3 infants with congenital rubella syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Yamashita, Y.; Matsuishi, T.; Murakami, Y. (Kurume Univ. (Japan). Dept. of Pediatrics and Child Health); Shoji, H. (Kurume Univ. (Japan). Dept. of Otolaryngology); Hashimoto, T. (St. Mary' s Hospital, Kurume (Japan). Dept. of Neonatology); Utsunomiya, H. (St. Mary' s Hospital, Kurume (Japan). Dept. of Neuroradiology); Araki, H. (Iizuka Hospital (Japan). Dept. of Pediatrics)

    1991-12-01

    Neuroimaging observations of three infants with congenital rubella syndrome are reported. We have observed congenital rubella syndrome lesions in the subependymal area, the basal ganglia and the deep white matter. Cranial ultrasonography defines subependymal cysts, calcification and possible vascular changes in the basal ganglia while MRI is the most sensitive to minor atrophic changes and white matter lesions. Although CT defines calcification, it is less sensitive than MRI to white matter changes and does not demonstrate subependymal cysts. (orig.).

  14. Neuroimaging findings (ultrasonography, CT, MRI) in 3 infants with congenital rubella syndrome

    International Nuclear Information System (INIS)

    Yamashita, Y.; Matsuishi, T.; Murakami, Y.; Shoji, H.; Hashimoto, T.; Utsunomiya, H.; Araki, H.

    1991-01-01

    Neuroimaging observations of three infants with congenital rubella syndrome are reported. We have observed congenital rubella syndrome lesions in the subependymal area, the basal ganglia and the deep white matter. Cranial ultrasonography defines subependymal cysts, calcification and possible vascular changes in the basal ganglia while MRI is the most sensitive to minor atrophic changes and white matter lesions. Although CT defines calcification, it is less sensitive than MRI to white matter changes and does not demonstrate subependymal cysts. (orig.)

  15. Sheehan’s syndrome presenting as psychosis: a rare clinical presentation

    Directory of Open Access Journals (Sweden)

    Sheikh Shoib

    2013-02-01

    Full Text Available  Abstract Sheehan’s syndrome (SS refers to the occurrence of varying degree of hypopituitarism after parturition (1. It is a rare cause of hypopituitarism in developed countries owing to advances in obstetric care and its frequency is decreasing worldwide. However, it is still frequent in underdeveloped and developing countries. Sheehan’s syndrome is often diagnosed late as it evolves slowly (2,3. Reports of psychoses in patients with Sheehan’s syndrome are rare. Herein, a case report of psychosis in a 31 year old woman who developed Sheehan’s syndrome preceded by postpartum haemorrhage is presented. Treatment with thyroxine and glucocorticoids resulted in complete remission after attaining euthyroid and eucortisolemic state. 

  16. The prognostic value of pyeloectasis in infants with urinary syndrome

    Directory of Open Access Journals (Sweden)

    Kozachkovsky A.E.

    2014-03-01

    Full Text Available Aim of the study was of to determine prognostic value of pyeloectasias in the structure of urinary system diseases including the frequency of pyeloectasia and its clinical significance in young children at the stage of hospital treatment at the infectious disease department. The diagnosis of the diseases and malformations of the kidneys and the urinary tract ultrasound study of 192 children at the age of 1 month to – 2,5 years was conducted. Ultrasound study of the urinary system was performed by a standardized technique using ultrasound scanner «SIEMENS SONOLINE G40» (company Siemens, Germany using a 2.5-5 MHz convex probe, and 7.5-10 MHz linear transducer. Pyeloectasias are the most often sonologic symptom in young age children presenting urinary syndrome (75% of researches. Obtained results of catamnestic follow ups showed that sizes of renal pelvis of more than 10 mm are the risk factors for acute pyelonephritis development.

  17. Sudden infant death syndrome (SIDS) shortly after hexavalent vaccination: another pathology in suspected SIDS?

    Science.gov (United States)

    Ottaviani, Giulia; Lavezzi, Anna Maria; Matturri, Luigi

    2006-01-01

    Experts from panels of the European Agency for the Evaluation of Medical Products have investigated whether there might be a link between hexavalent vaccines and some cases of deaths that occurred. Participants included pathologists with experience in the field of vaccines and sudden infant death syndrome who conducted autopsies. However, to the best of our knowledge, little, if any, attention was paid to examination of the brainstem and the cardiac conduction systems on serial sections, nor was the possibility of a triggering role of the vaccine in these deaths considered. Herein we report the case of a 3-month-old female infant dying suddenly and unexpectedly shortly after being given a hexavalent vaccination. Examination of the brainstem on serial sections revealed bilateral hypoplasia of the arcuate nucleus. The cardiac conduction system presented persistent fetal dispersion and resorptive degeneration. This case offers a unique insight into the possible role of hexavalent vaccine in triggering a lethal outcome in a vulnerable baby. Any case of sudden unexpected death occurring perinatally and in infancy, especially soon after a vaccination, should always undergo a full necropsy study according to our guidelines.

  18. Atypical presentation of Goldenher syndrome- a rare scenario

    Directory of Open Access Journals (Sweden)

    C Lath

    2014-04-01

    Full Text Available In 1952 Goldenher described a case with triad of pre auricular tags, mandibular hypoplasia and ocular (epibulbar dermoid and described the case as Goldenger Syndrome. Exact etiology of this disease is not known. Here we present a case of Goldenher syndrome in a 5 days old newborn who presented with all the classical features except ocular involvement.   Gorlin et.al named this syndrome as oculoauriculovertebral dysplasia due to presence of additional vertebral anomalies .2 Exact etiology of this disease is not known. Most of the cases are sporadic, though autosomal recessive, autosomal dominant and multifactorial inheritance has also been suggested.2.Chromosomal analysis shows no abnormalities.3 In this report we presented a case of Goldenger Syndrome in a 5 days old newborn who presented with all the classical features except occular involvement. Journal of College of Medical Sciences-Nepal, 2013, Vol-9, No-4, 59-62 DOI: http://dx.doi.org/10.3126/jcmsn.v9i4.10239

  19. CASE REPORT Triple A syndrome presenting with myopathy: An ...

    African Journals Online (AJOL)

    salah

    nomic nervous systems. Progression of neurological symptoms has been report- ed with worsening of peripheral neurop- athy, dementia, long tract degeneration, dysarthria and ataxia3. In this paper we report a 13 year old boy with Allgrove syndrome presenting with muscular weakness that was confirmed by EMG studies.

  20. Infective endocarditis presenting as acute coronary syndrome | El ...

    African Journals Online (AJOL)

    We report tow cases of infective endocarditis (IE) presenting as acute coronary syndrome (ACS). Case 1: A 60-year-old man with the diagnosis of mitral IE complicated by an ST segment elevation myocardial infarction. Primary percutaneous coronary intervention with aspiration of the thrombus at the distal leftanterior ...

  1. Addison's disease presenting as acute chest syndrome: Case report ...

    African Journals Online (AJOL)

    Addison's disease presenting as acute chest syndrome: Case report and review of literature. MR Akpa, OJ Odia. Abstract. No Abstract. Nigerian Journal of Medicine Vol. 15 (4) October-December 2006: 451-452. Full Text: EMAIL FULL TEXT EMAIL FULL TEXT · DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT.

  2. Hypophosphatemic Rickets: Presenting Features of Fanconi—Bickel Syndrome

    Directory of Open Access Journals (Sweden)

    Mahua Roy

    2011-01-01

    Full Text Available Fanconi-Bickel Syndrome (FBS is a rare variety of glycogen storage disease (GSD. Characterized by massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets, and marked growth retardation due to proximal renal tubular dysfunction. We report a young boy presented as hypophosphatemic rickets with hepatomegaly and subsequently diagnosed as FBS.

  3. Epithelioid sarcoma presenting as the reflex sympathetic dystrophy syndrome.

    Science.gov (United States)

    Summers, C. L.; Shahi, M.

    1987-01-01

    A case of reflex sympathetic dystrophy caused by an epithelioid sarcoma is presented. This is the first report of a local peripheral tumour associated with the reflex sympathetic dystrophy syndrome. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 PMID:3671265

  4. Pattern of Presentation of Multiple Organ Dysfunction Syndrome in ...

    African Journals Online (AJOL)

    Background: Multiple organ dysfunction syndrome is the sequential failure of several organ systems after a trigger event, like sepsis, massive transfusions, burns, trauma and cardiogenic shock. Aim and Objectives- The pattern of presentation of multiple organ dysfunction and the risk factors associated with multiple organ ...

  5. Mounier-Kuhn syndrome: radiological findings and clinical presentation

    Energy Technology Data Exchange (ETDEWEB)

    Bastos, Andrea de Lima [Hospital Julia Kubitschek-FHEMIG, Belo Horizonte, MG (Brazil). Unidade de Diagnostico por Imagem; Brito, Isabela Lage Alves, E-mail: andblima@yahoo.com.b [Hospital Julia Kubitschek-FHEMIG, Belo Horizonte, MG (Brazil). Dept. de Pneumologia

    2011-05-15

    Mounier-Kuhn syndrome is a rare disease clinically characterized by recurrent respiratory infections. The present report describes a case of this disease with analysis of chest radiography and high resolution computed tomography showing increased caliber of the trachea, main bronchi and central bronchiectasis. Such changes, in association with clinical data, suggest the diagnosis. (author)

  6. Ward Round - Late Presentation of Acute Compartment Syndrome in ...

    African Journals Online (AJOL)

    following the course of ibuprofen mentioned. Twelve days after admission he started to complain of increasing pain and tightness in his left thigh. Sensation and motor function. Ward Round - Late Presentation of Acute. Compartment Syndrome in the Thigh. University of Malawi, College of Medicine, Department of Surgery,.

  7. Bardet-biedl syndrome presenting with end stage renal failure

    International Nuclear Information System (INIS)

    Ansari, R.M.; Junejo, A. M.

    2006-01-01

    A young male presented in the Nephro-Urology Department with advanced renal failure, blindness in early childhood, polydactaly,obesity, decreased mentation and hypogonadism. With these phenotypical features and renal ultrasonographic findings, he was diagnosed as a case of Bardet-Biedl syndrome. Only one younger sister of patient had similar features. Renal impairment is frequent and an important cause of death. End stage renal disease (ESRD) is rarely seen in younger patient of Bardet-Biedl syndrome. However, ESRD in early age is associated with substantially reduced survival. (author)

  8. 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)

  9. The prevalence of turner syndrome in girls presenting with coarctation of the aorta.

    Science.gov (United States)

    Wong, Sze Choong; Burgess, Trent; Cheung, Michael; Zacharin, Margaret

    2014-02-01

    To determine the prevalence of Turner syndrome in girls presenting with coarctation of the aorta (CoA). A total of 132 girls with known structural CoA was identified. Those girls who had no previous karyotype analysis performed were asked to participate in a research study in which a banded karyotype with 50-cell count was performed. Of 132 girls with CoA, 55 (41.7%) had karyotype analysis within 6 months of cardiac diagnosis. Three girls underwent karyotyping later because of clinical concerns. Of the 74 girls with CoA who had not had a karyotype, 38 (51.4%) consented to the study. Results were available for 37 girls. All were 46,XX. Five patients with Turner syndrome were identified in the 95 girls with CoA who had karyotype analysis (4 from early karyotype and 1 diagnosed later), which translated into a minimum prevalence of 5.3% of Turner syndrome in this group of girls with CoA. In addition, one infant with a 20-cell 46,XX karyotype had features of Turner syndrome. Our study demonstrated for the first time in a large cohort that 5.3% of girls presenting with CoA are found to have Turner syndrome when karyotyping is performed. Given the spectrum of preventable and treatable health problems after the diagnosis of Turner syndrome, we believe that all girls with CoA should have a karyotype analysis, ideally with at least 50-cell count, at the time of diagnosis of CoA. Copyright © 2014 Mosby, Inc. All rights reserved.

  10. Sudden infant death syndrome: The risk of infants in Bogotá, Colombia

    Directory of Open Access Journals (Sweden)

    María Luisa Latorre-Castro

    2016-10-01

    Conclusions: The results reflect the risk to which infants are exposed because of wrong practices associated with poor knowledge, and recommendations given, in many cases, by health professionals. Likewise, risk is higher among the poorest population.

  11. DISCOGENIC RADICULOMYELOISCHEMIC LUMBAL SYNDROME IN CHILDREN - PRESENTATION OF ONE PATIENT

    Directory of Open Access Journals (Sweden)

    Zoran Perić

    2000-03-01

    Full Text Available The paper presents fhe emergence of the discogenic radiculomyeloischemic (RMI lumbal syndrome in a 12 year old girl. The medial prolapses of the discus at the L3-L4 and L4-L5 levels have caused the emergence of the bilateral radicular syndrome while the compression of the Adamkiewitcz artery has caused the generation of the distal thoracic and lumbalosacral part of the spinal cord. In the clinic image there was an evident association of the prominent painful syndrome and paraparesis without any disturbance of the sphincter control. The appearance of the signs of the vegetative vasculardisturbances on the legs represents an important part of theclinic image of this syndrome in children. The extensive clinic, electrophysiolgical radiological and laboratory examination has been carried out on the patient. On the basis of the obtained results it can be concluded that an early diagnosis of the discogenic RMI lumbal syndrome in children, beside a detailed radiological examination, very often requires - as a part of the additional examinations - the scanning of the spinal column and the spinal cord by magnetic resonance since a timely carried out operative treatment can lead to the complete recovery of such patients.

  12. An Unusual Presentation of Zollinger-Ellison Syndrome

    Directory of Open Access Journals (Sweden)

    Emanuele Sinagra

    2013-01-01

    Full Text Available Zollinger-Ellison syndrome is an often progressive, persistent and frequently life-threatening disease, described for the first time as characterized by ulceration of the upper jejunum, hypersecretion of gastric acid and non-beta islet cell tumors of the pancreas; this syndrome is due to the hypersecretion of gastrin. We report a case of Zollinger-Ellison syndrome presenting as severe esophagitis evolving in stenosis, which demonstrates how a delayed diagnosis may induce risk of disease spreading. In this setting new diagnostic approaches, such as somatostatin receptor scanning and positron emission tomography with 68 Ga-labeled octreotide, could be particularly useful, as well as further new therapeutic options, such as molecular targeted treatments and peptide receptor radionuclide therapy, though surgery is currently the only form of curative treatment, and the role of the therapeutic options mentioned needs to be clarified by forthcoming studies.

  13. Fecal microbiota transplantation in metabolic syndrome: History, present and future.

    Science.gov (United States)

    de Groot, P F; Frissen, M N; de Clercq, N C; Nieuwdorp, M

    2017-05-04

    The history of fecal microbiota transplantation (FMT) dates back even to ancient China. Recently, scientific studies have been looking into FMT as a promising treatment of various diseases, while in the process teaching us about the interaction between the human host and its resident microbial communities. Current research focuses mainly on Clostridium difficile infections, however interest is rising in other areas such as inflammatory bowel disease (IBD) and the metabolic syndrome. With regard to the latter, the intestinal microbiota might be causally related to the progression of insulin resistance and diabetes. FMT in metabolic syndrome has proven to be an intriguing method to study the role of the gut microbiota and open the way to new therapies by dissecting in whom insulin resistance is driven by microbiota. In this article we review the history of FMT, the present evidence on its role in the pathophysiology of metabolic syndrome and its efficacy, limitations and future prospects.

  14. The Influence of Rotary Vestibular Stimulation upon Motor Development of Nonhandicapped and Down Syndrome Infants.

    Science.gov (United States)

    Arendt, Robert E.; And Others

    1991-01-01

    A quantifiable regimen of supplemental rotary vestibular stimulation was administered in a cross-over longitudinal design to 11 nonhandicapped and 10 Down's syndrome infants. Results indicated that supplementary rotary vestibular stimulation produced no measurable gain in motor ability. Greater gains were exhibited in the early phase of the study,…

  15. Sudden infant death syndrome in mice with an inherited mutation in RyR2

    NARCIS (Netherlands)

    Mathur, Nitin; Sood, Subeena; Wang, Sufen; van Oort, Ralph J.; Sarma, Satyam; Li, Na; Skapura, Darlene G.; Bayle, J. Henri; Valderrábano, Miguel; Wehrens, Xander H. T.

    2009-01-01

    BACKGROUND: Mutations in the cardiac ryanodine receptor gene (RyR2) have been recently identified in victims of sudden infant death syndrome. The aim of this study was to determine whether a gain-of-function mutation in RyR2 increases the propensity to cardiac arrhythmias and sudden death in young

  16. Rothia dentocariosa Septicemia without Endocarditis in a Neonatal Infant with Meconium Aspiration Syndrome

    Science.gov (United States)

    Shin, Jeong Hwan; Shim, Jae Dong; Kim, Hye Ran; Sinn, Jong Beom; Kook, Joong-Ki; Lee, Jeong Nyeo

    2004-01-01

    Rothia dentocariosa, a gram-positive coccoid- to rod-shaped bacterium with irregular morphology, is a rare cause of bacteremia in patients without endocarditis. We report the first case of R. dentocariosa septicemia without endocarditis, which occurred in a neonatal infant with meconium aspiration syndrome. PMID:15472374

  17. Sudden infant death syndrome in child care settings in the Netherlands

    NARCIS (Netherlands)

    Jonge, G.A. de; Lanting, C.I.; Brand, R.; Ruys, J.H.; Semmekrot, B.A.; Wouwe, J.P. van

    2004-01-01

    Background: In the Netherlands, there is a very low incidence of sudden infant death syndrome (SIDS) due to effective preventive campaigns. Methods: During the period September 1996 to August 2002, nationwide 161 deaths from SIDS (about 85% of all cases of SIDS during that time) were investigated by

  18. IMMUNE-RESPONSE AFTER SURFACTANT TREATMENT OF NEWBORN-INFANTS WITH RESPIRATORY-DISTRESS SYNDROME

    NARCIS (Netherlands)

    Bambang Oetomo, S.; Bos, A.F.; de Lei, L.; Okken, A.; VANSONDEREN, L; HALLIDAY, HL; WALTI, H

    1993-01-01

    We examined the sera of 68 newborn infants with respiratory distress syndrome; 49 were treated with a natural porcine-derived surfactant preparation and 19 were controls. Serum of the patients was collected before, 3 weeks and 3 months after surfactant treatment. To detect any antibody that had been

  19. Poland-Mobius syndrome in an infant girl

    OpenAIRE

    Al-Mazrou, Khalid A.; Al-Ghonaim, Yazeed A.; Al-Fayez, Abdulrhman I.

    2009-01-01

    Mobius syndrome is a rare condition of unclear origin, characterized by a unilateral or bilateral congenital facial weakness with impairment of ocular abduction, which is frequently associated with limb anomalies. Poland described a condition in which there was unilateral absence of pectoralis major muscle and ipsilateral syndactyly. The combination of Poland-Mobius syndrome is rare, with an estimated prevalence 1:500 000. We describe a case of Poland-Mobius syndrome in association with conge...

  20. Poland-Mobius syndrome in an infant girl.

    Science.gov (United States)

    Al-Mazrou, Khalid A; Al-Ghonaim, Yazeed A; Al-Fayez, Abdulrhman I

    2009-01-01

    Mobius syndrome is a rare condition of unclear origin, characterized by a unilateral or bilateral congenital facial weakness with impairment of ocular abduction, which is frequently associated with limb anomalies . Poland described a condition in which there was unilateral absence of pectoralis major muscle and ipsilateral syndactyly. The combination of Poland-Mobius syndrome is rare, with an estimated prevalence 1:500 000. We describe a case of Poland-Mobius syndrome in association with congenital bilateral vocal fold immobility. To our knowldge, this is the first report of such an association between Poland-Mobius syndrome and congenital bilateral vocal fold immobility.

  1. Melkersson-Rosenthal Syndrome Presenting as Chronic Eyelid Swelling.

    Science.gov (United States)

    Kondratiev, Svetlana; Heher, Katrinka; Baker, Brad J; Laver, Nora V

    2010-03-09

    Melkersson-Rosenthal Syndrome (MRS) is a rare disorder characterized by orofacial edema, facial palsy, and fissured tongue. A 64-year-old man presented with a fissured tongue and persistent chronic right upper eyelid edema of 15 years duration. The diagnostic biopsy revealed non-necrotizing granulomatous inflammation adjacent to blood and lymphatic vessels. Characteristic granulomas with focal occlusion of dilated lymphatic channels were present. Special stains for fungi, acid-fast microorganisms and bacteria were negative. Ptosis due to a mechanical effect of the persistent eyelid edema required surgical treatment including debulking and advancement of the levator muscle. At 6 months after surgery the patient showed symmetrical eyelid position without edema. The case demonstrates an uncommon presentation of Melkersson-Rosenthal syndrome with prominent upper eyelid edema and lingua plicata, which was initially misdiagnosed. The clinical findings coupled with the characteristic granulomatous lymphangitis present in the biopsy are crucial for a definite diagnosis. Copyright 2010, SLACK Incorporated.

  2. Childhood allergic bronchopulmonary aspergillosis presenting as a middle lobe syndrome

    OpenAIRE

    Shah, Ashok; Gera, Kamal; Panjabi, Chandramani

    2016-01-01

    Allergic bronchopulmonary aspergillosis (ABPA) is infrequently documented in children with asthma. Although collapse is not uncommon, middle lobe syndrome (MLS) as a presentation of ABPA is rather a rarity. A 9-year-old female child with asthma presented with increase in intensity of symptoms along with a right midzone patchy consolidation on a chest radiograph. In addition, an ill-defined opacity abutting the right cardiac border with loss of cardiac silhouette was noted. A right lateral vie...

  3. The Role of Respiratory Infection in Sudden Infant Death Syndrome (SIDS

    Directory of Open Access Journals (Sweden)

    Mage David T.

    2016-06-01

    Full Text Available Introduction: The Sudden Infant Death Syndrome (SIDS is not likely to be explained by a currently measureable presence in all cases and absence in controls, as otherwise it would have been solved already. Indeed, any proposed physiological model for SIDS causation must explain the constant mathematical and statistical properties of SIDS age and gender. We have shown previously that SIDS are characterized by a common 4-parameter lognormal age distribution sparing neonatal infants, by a nominal 50% male excess, and by a higher rate in winter than summer. We test now whether SIDS is closely related to a fulminating prodromal Acute Respiratory Infection (ARI by a common increasing rate with the infants increasing Live Birth Order (LBO, all remaining the same, independent of the change in preferred sleeping positions of the infants, prone or supine.

  4. Treatment modalities of infants with upper airway obstruction--review of the literature and presentation of novel orthopedic appliances.

    Science.gov (United States)

    Kochel, Janka; Meyer-Marcotty, Philipp; Wirbelauer, Johannes; Böhm, Hartmut; Kochel, Michael; Thomas, Wolfgang; Bareis, Ute; Hebestreit, Helge; Speer, Christian; Stellzig-Eisenhauer, Angelika

    2011-01-01

    To present a new orthopedic method for treatment of infants with Pierre Robin sequence (PRS) and upper airway obstruction (UAO) as an alternative to other established nonsurgical and surgical techniques such as positioning, nasopharyngeal or endotracheal intubation, tongue-lip adhesion, extension, distraction, or tracheostomy. Review of the literature and presentation of novel orthopedic appliances. Department of Orthodontics, Dental Clinic, Medical Faculty of the University of Wuerzburg, Germany, Department and Clinic of Pediatrics, Medical Faculty of the University of Wuerzburg, Germany, 2005 to 2008. Seven patients with significant respiratory and feeding difficulties between 0 and 6 months of age. Both patients with nonsyndromic PRS and patients with syndromic PRS were included. The type of respiratory tract obstruction was defined by nasopharyngoscopy. Patients with type 1 obstruction received a plate with an epiglottic spur; whereas, patients with obstruction type 2, 3, or 4 received a plate with a pharyngeal tube. All patients were successfully treated with orthopedic appliances alone. Under plate therapy they showed good oxygen saturation and could consequently be better nourished orally. The presented novel method is a noninvasive technique in treatment of infants with UAO.

  5. Nephrotic syndrome in infants and children: pathophysiology and management.

    Science.gov (United States)

    Downie, Mallory L; Gallibois, Claire; Parekh, Rulan S; Noone, Damien G

    2017-11-01

    Nephrotic syndrome is defined by nephrotic-range proteinuria (≥40 mg/m 2 /hour or urine protein/creatinine ratio ≥200 mg/mL or 3+ protein on urine dipstick), hypoalbuminaemia (nephrotic syndrome of childhood, and includes a brief overview of the congenital forms.

  6. Clinical presentation & management of glomerular diseases: hematuria, nephritic & nephrotic syndrome.

    Science.gov (United States)

    Khanna, Ramesh

    2011-01-01

    Because the differential diagnosis for glomerulonephritis (GN) is broad, using a classification schema is helpful to narrow the causes of GN in a systematic manner. The etiology of glomerulonephritis can be classified by their clinical presentation (nephrotic, nephritic, rapidly progressive GN, chronic GN) or by histopathology. GN may be restricted to the kidney (primary glomerulonephritis) or be a secondary to a systemic disease (secondary glomerulonephritis). The nephrotic syndrome is defined by the presence of heavy proteinuria (protein excretion greater than 3.0 g/24 hours), hypoalbuminemia (less than 3.0 g/dL), and peripheral edema. Hyperlipidemia and thrombotic disease may be present. The nephritic syndrome is associated with hematuria and proteinuria and abnormal kidney function and carries poorer prognosis and is typically associated with hypertension. The predominant cause of the nephrotic syndrome in children is minimal change disease. The most common causes of nephritic syndrome are post infectious GN, IgA nephropathy and lupus nephritis. Chronic GN is slowly progressive and is associated with hypertension and gradual loss of kidney function. Treatment includes non-specific measure aimed at controlling hypertension, edema, proteinuria and disease modifying immunosuppression.

  7. Tracheostomy Among Infants With Hypoplastic Left Heart Syndrome Undergoing Cardiac Operations: A Multicenter Analysis.

    Science.gov (United States)

    Prodhan, Parthak; Agarwal, Amit; ElHassan, Nahed O; Bolin, Elijah H; Beam, Brandon; Garcia, Xiomara; Gaies, Michael; Tang, Xinyu

    2017-04-01

    Less than 2.7% of infants undergoing congenital heart disease operations have difficulty weaning from invasive mechanical ventilation. In such instances, clinicians may choose to perform tracheostomy. Limited literature has examined tracheostomy placement specifically in infants with hypoplastic left heart syndrome (HLHS). This study evaluated the risk factors for tracheostomy placement in infants with HLHS and examined the outcomes of these infants before their first hospital discharge. This retrospective analysis of the Pediatric Heath Information System data set included infants with HLHS who underwent stage 1 Norwood operation, a hybrid procedure, or heart transplant from 2004 through 2013. We identified 5721 infants with HLHS, and 126 underwent tracheostomy placement. Infants in the tracheostomy group had more morbidities and a higher mortality rate across the study period. Diagnosis of chromosomal abnormalities, anomalies of the trachea and esophagus, larynx, diaphragm and nervous system, bilateral vocal cord paralysis, and necrotizing enterocolitis, and procedures including extracorporeal membrane oxygenation support, cardiac catheterization, and gastrostomy tube were independently associated with tracheostomy placement in the study population. Despite an overall increase in rates of tracheostomy performed in infants with HLHS during the study period, the mortality rate did not improve among tracheostomy patients. Several risk factors were identified in infants with HLHS in whom a tracheostomy was placed during their first hospitalization. Despite an overall increase in rates of tracheostomies during the study period, the mortality rate did not improve among these patients. Appropriate family counseling and thorough preoperative case selection is suggested when discussing possible tracheostomy placement in infants with HLHS. Copyright © 2017 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  8. A Case of Paraneoplastic Cushing Syndrome Presenting as Hyperglycemic Hyperosmolar Nonketotic Syndrome

    Directory of Open Access Journals (Sweden)

    Christina E. Brzezniak

    2017-04-01

    Full Text Available Carcinoid tumors are neuroendocrine tumors that mainly arise in the gastrointestinal tract, lungs, and bronchi. Bronchopulmonary carcinoids have been associated with Cushing syndrome, which results from ectopic adrenocorticotrophic hormone (ACTH secretion. We report the case of a 65-year-old man, a colonel in the US Air Force, with metastatic bronchopulmonary carcinoid tumors treated on a clinical trial who was hospitalized for complaints of increasing thirst, polydipsia, polyuria, weakness, and visual changes. Decompensated hyperglycemia suggested a diagnosis of hyperglycemic hyperosmolar nonketotic syndrome (HHNS. Additional findings, which included hypokalemia, hypernatremia, hypertension, metabolic alkalosis, moon facies, and striae, raised a red flag for an ectopic ACTH syndrome. Elevated ACTH levels confirmed Cushing syndrome. Treatment with a fluid replacement and insulin drip resulted in immediate symptomatic improvement. Cushing syndrome should be considered in carcinoid patients with physical stigmata such as moon facies and striae. HHNS may be the presenting clinical feature in patients with impaired glucose metabolism.

  9. Chediak-Higashi syndrome presenting in accelerated phase.

    Science.gov (United States)

    Imran, Tanzeel; Zafar, Lubna; Rehan, Madeeha; Nasir, Aqsa; Tariq, Parveen Akhtar; Batool, Iffat

    2012-08-01

    Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disorder, characterized by silver hair, recurrent infections, partial oculo-cutaneous albinism, mild coagulation defect and progressive neuropathy. The characteristic feature of CHS is the presence of huge lysosomes and cytoplasmic inclusions within different body cells like the white blood cells. The disease has an early onset but usually presents in an accelerated phase. We present a case of a 2 years old boy with high grade fever, bilateral cervical lymphadenopathy, hepatosplenomegaly, abdominal distention of 28 days duration. He was diagnosed with Chediak-Higashi syndrome in accelerated phase on the basis of clinical presentation, morphological findings on peripheral blood film and bone marrow aspirate.

  10. Meconium aspiration syndrome in infants of HIV-positive women: a case-control study.

    Science.gov (United States)

    Gupta, Sachin K; Haerr, Pam; David, Richard; Rastogi, Alok; Pyati, Suma

    2016-05-01

    Our aim was to determine whether maternal HIV infection in the current era is associated with an increased incidence of meconium aspiration syndrome (MAS) in their infants. Infants born to 149 HIV-positive women at our hospital over a 5-year period were compared with infants born to HIV-negative women in a retrospective case-control study. Charts of all 298 patients included in the study were reviewed for maternal and infant demographics, HIV treatment, vertical transmission and untoward events at delivery or during the hospital course. When compared with HIV-negative women, a greater proportion of HIV-positive women had meconium-stained amniotic fluid (MSAF), 33% vs. 13%, Pmeconium staining of the amniotic fluid and such drug exposure was more common among our HIV-positive sample, controlling for this and other possible covariates did not greatly reduce the association of HIV status with meconium-related complications of delivery. Infants born to HIV-positive women had significantly more MSAF and MAS than infants born to non-infected women. It is unclear whether this association results from maternal HIV infection itself or from anti-retroviral therapy. Maternal and infant care providers should be prepared for this complication when attending to the deliveries of HIV-positive women.

  11. Treadmill training of infants with Down syndrome: evidence-based developmental outcomes.

    Science.gov (United States)

    Ulrich, D A; Ulrich, B D; Angulo-Kinzler, R M; Yun, J

    2001-11-01

    On average, infants with Down syndrome (DS) learn to walk about 1 year later than nondisabled (ND) infants. The purpose of this study was to determine if practice stepping on a motorized treadmill could help reduce the delay in walking onset normally experienced by these infants. Thirty families of infants with DS were randomly assigned to the intervention or control group. All infants were karyotyped trisomy 21 and began participation in the study when they could sit alone for 30 seconds (Bayley Scales of Infant Development, Second Edition 1993, item 34). Infants received traditional physical therapy at least every other week. In addition, intervention infants received practice stepping on a small, motorized treadmill, 5 days per week, for 8 minutes a day, in their own homes. Parents were trained to support their infants on these specially engineered miniature treadmills. Every 2 weeks research staff went into the homes and tested infants' overall motor progress by administering the Bayley Scales of Infant Development, Second Edition, monitored growth status via a battery of 11 anthropometric measures, and checked parents' compliance with physical therapy and treadmill intervention. The primary measures of the intervention's effectiveness were comparisons between the groups on the length of time elapsed between sitting for 30 seconds (entry into the study) and 1) raising self to stand; 2) walking with help; and 3) walking independently. The experimental group learned to walk with help and to walk independently significantly faster (73.8 days and 101 days, respectively) than the control group, both of which also produced large effect size statistics for the group differences. The groups were not statistically different for rate of learning to raise self to stand but there was a moderate effect size statistic suggesting that the groups were meaningfully different in favor of the experimental group. These results provide evidence that, with training and support

  12. Isolated acute non-cystic white matter injury in term infants presenting with neonatal encephalopathy.

    LENUS (Irish Health Repository)

    Barrett, Michael Joseph

    2013-03-01

    We discuss possible aetiological factors, MRI evolution of injury and neuro-developmental outcomes of neonatal encephalopathy (NE). Thirty-six consecutive infants diagnosed with NE were included. In this cohort, four infants (11%) were identified with injury predominantly in the deep white matter on MRI who were significantly of younger gestation, lower birthweight with higher Apgars at one and five minutes compared to controls. Placental high grade villitis of unknown aetiology (VUA) was identified in all four of these infants. Our hypothesis states VUA may induce white matter injury by causing a local inflammatory response and\\/or oxidative stress during the perinatal period. We underline the importance of continued close and systematic evaluation of all cases of NE, including examination of the placenta, in order to come to a better understanding of the clinical presentation, the patterns of brain injury and the underlying pathophysiological processes.

  13. Atypical timing and presentation of periventricular haemorrhagic infarction in preterm infants: the role of thrombophilia.

    NARCIS (Netherlands)

    Harteman, J.C.; Groenendaal, F.; Haastert, I.C. van; Liem, K.D.; Stroink, H.; Bierings, M.B.; Huisman, A.; Vries, L.S. de

    2012-01-01

    AIM: Periventricular haemorrhagic infarction (PVHI) is a complication of preterm birth associated with cardiorespiratory instability. To date, the role of thrombophilia as a possible additional risk factor in infants with atypical timing and presentation of PVHI has not been investigated. METHOD:

  14. Neonatal outcomes of preterm infants in breech presentation according to mode of birth in Canadian NICUs.

    Science.gov (United States)

    Lodha, Abhay; Zhu, Qiaohao; Lee, Shoo K; Shah, Prakesh S

    2011-03-01

    Many medical practitioners have adopted the practice of caesarean section for preterm infants in breech presentation based on term infant data. Some studies have highlighted deleterious effects on survival, such as intraventricular haemorrhage and periventricular leucomalacia, while others have reported no difference from the outcomes after vaginal delivery. To compare outcomes of preterm infants of ≤32 weeks' gestational age who were in breech position at the time of birth according to mode of birth in Canadian neonatal intensive care units (NICUs). 29 Canadian NICUs. Neonates admitted to participating NICUs in the Canadian Neonatal Network between 2003 and 2007 were included in this retrospective study. Infants who were in breech position at the time of birth were divided into two groups: vaginal birth (VB) and caesarean section (CS). Data on common neonatal outcomes were compared using univariate and multivariate logistic regression. Neonatal mortality and other neonatal morbidities. Of 3552 preterm infants in breech position at birth, 2937 (83%) were delivered by CS and 615 (17%) by VB. Multivariate regression analysis with adjustment for perinatal risk factors indicated that VB was associated with an increased risk of death (OR 1.7; 95% CI 1.3 to 2.3), chronic lung disease (OR 1.5; 95% CI 1.1 to 1.9) and severe retinopathy of prematurity (OR 1.6; 95% CI 1.1 to 2.3). Vaginal birth for preterm infants in breech presentation is possibly associated with a higher risk of adverse neonatal outcomes compared with caesarean birth in Canadian NICUs. It is not clear whether adverse outcomes are due to the mode of delivery or whether breech birth is associated with other risk factors, an issue that can only be resolved by a randomised controlled trial.

  15. Early Acquisition of Pneumocystis jirovecii Colonization and Potential Association With Respiratory Distress Syndrome in Preterm Newborn Infants.

    Science.gov (United States)

    Rojas, Pilar; Friaza, Vicente; García, Elisa; de la Horra, Carmen; Vargas, Sergio L; Calderón, Enrique J; Pavón, Antonio

    2017-09-15

    Pneumocystis pneumonia is a well-recognized lung disease of premature and malnourished babies. Even though serologic studies have shown that children are exposed to Pneumocystis jirovecii early in life, the epidemiology of human P. jirovecii infection and the host-microorganism relationship in infancy remain poorly understood. The aim of the present study was to investigate the prevalence of P. jirovecii colonization in preterm infants and its possible association with medical complications. A prospective observational study of preterm infants (birth weight newborns studied. A significant increase of respiratory distress syndrome in colonized group, even after adjusting for confounding factors (odds ratio, 2.7 [95% CI, 1.0-7.5]; P = .04), was observed. No differences were observed in other medical conditions between the 2 groups. Pneumocystis jirovecii colonization is frequent in preterm births and could be a risk factor to develop respiratory distress syndrome among preterm infants. © The Author 2017. Published by Oxford University Press for the Infectious Diseases Society of America. All rights reserved. For permissions, e-mail: journals.permissions@oup.com

  16. Idiopathic Atypical Haemolytic Uraemic Syndrome presenting with acute dystonia

    LENUS (Irish Health Repository)

    Maduemem, Rizwan K E

    2017-09-01

    Hemolytic Uremic Syndrome (HUS), a triad of microangiopathic hemolytic anemia, thrombocytopenia and acute kidney injury. The atypical HUS (aHUS) results from over activation of complement system with formation of micro thrombi and damage to endothelial cells resulting in renal impairment in 50 % and death in 25 %, commonly in untreated patients. We report an intriguing case of aHUS presenting with acute onset of movement disorder and fluctuating delirium.

  17. Care of the infant with neonatal abstinence syndrome: strength of the evidence.

    Science.gov (United States)

    Maguire, Denise

    2014-01-01

    There is little empirical evidence that guides management of infants with neonatal abstinence syndrome. The standard of care first described in the 1970s is still prevalent today, although it has never been tested in this population. Standard of care interventions include decreasing external stimulation, holding, nonnutritive sucking, swaddling, pressure/rubbing, and rocking. These interventions meet the goals of nonpharmacologic interventions, which are to facilitate parental attachment and decrease external stimuli. Many nursing interventions used in infants with neonatal abstinence syndrome have been tested in low-birth-weight infants, whose treatment often includes the same goals. Those interventions include music therapy, kangaroo care, massage, and use of nonoscillating water beds. Nursing attitude has also been shown to be impactful on parental attachment. The American Academy of Pediatrics recommends breast-feeding in infants whose mothers are on methadone who do not have any other contraindication. It also provides guidelines for pharmacologic management but cannot provide specific recommendations about a standard first dose, escalation, or weaning schedule. Buprenorphine has some evidence about its safety in newborns with neonatal abstinence syndrome, but high-powered studies on its efficacy are currently lacking. There are many opportunities for both evidence-based projects and nursing research projects in this population.

  18. Guillain-Barre Syndrome Presenting as Acute Abdomen

    Directory of Open Access Journals (Sweden)

    Faruk incecik

    2015-09-01

    Full Text Available Guillain-Barr and eacute; syndrome (GBS is the most common cause of acute flaccid paralysis in childhood. Symmetric weakness, headache, respiratory symptom, neuropathic pain, muscle pain, paresthesia, and facial palsy were the most common clinical presentations. We report 13-year-old boy with GBS who presented with acute abdominal pain. This is the first report, to our knowledge, first presented of acute abdomen of a pediatric patient with GBS. [Cukurova Med J 2015; 40(3.000: 601-603

  19. Cauda equina syndrome presenting as abdominal pain: a case report.

    LENUS (Irish Health Repository)

    Ellanti, Prasad

    2012-09-01

    Cauda equina syndrome (CES) is an uncommon entity. Symptoms include bowel and bladder dysfunction, saddle anesthesia, and varying degrees of lower limb motor and sensory disturbances. The consequences of delayed diagnosis can be devastating, resulting in bowel and bladder incontinence and lower limb paralysis. There is little in literature regarding abdominal pain as a significant feature of the initial presentation of CES. We present the case of a 32-year-old woman with CES who presented to the emergency department with gradually worsening lower abdominal pain.

  20. A Case of Ramsay Hunt Syndrome with Atypical Presentation

    Directory of Open Access Journals (Sweden)

    Kamil KAYAYURT

    2014-09-01

    Full Text Available SUMMARY: Ramsay Hunt syndrome is a rare complication of herpes zoster which results from the reactivation of the latent varicella-zoster virus in the geniculate ganglion. Although facial nerve is the most common affected nerve in Ramsay Hunt syndrome, other cranial and cervical nerves can also be affected. We present an atypical case of Ramsay Hunt syndrome in a 42-year-old male, with cervical nerve involvement. As spontaneous recovery rate in Ramsay Hunt syndrome is low, early diagnosis and treatment plays a key role in full recovery of paralysis. ÖZET: Ramsay Hunt sendromu, varisella-zoster virüsün latent olarak kaldığı genikulat ganglionda aktifleşmesiyle oluşan herpes zosterin nadir bir komplikasyonudur. Ramsay Hunt sendromunda fasiyal sinir en sık etkilenen sinir olmasına rağmen diğer kraniyal sinirler ve servikal sinirler de tutulabilir. Bu yazıda, 42 yaşındaki erkek hastada servikal tutulumun da eşlik ettiği atipik bir Ramsay Hunt sedromu olgusu sunuldu. Ramsay Hunt sedromunda spontan iyileşme oranları düşük olduğundan bu hastaların tanılarının erken dönemde konması ve tedavilerinin hemen başlanması paralizinin tam olarak iyileşmesinde kilit role sahiptir. Key words: Facial palsy, Ramsay Hunt syndrome, varicella-zoster virus, Anahtar sözcükler: Fasiyal paralizi, Ramsay Hunt sendromu, varisella-zoster virüs

  1. Heat stress and sudden infant death syndrome--stress gene expression after exposure to moderate heat stress

    DEFF Research Database (Denmark)

    Rohde, Marianne Cathrine; Corydon, Thomas Juhl; Hansen, Jakob

    2013-01-01

    time points measured, and may be less related to heat stress. Being found dead in the prone position (a known risk factor for SIDS) was related to a lower HSPA1B up-regulation in SIDS compared to SIDS found on their side or back. The study demonstrates the potential usefulness of gene expression......The aim of the present study was to investigate stress gene expression in cultured primary fibroblasts established from Achilles tendons collected during autopsies from sudden infant death syndrome (SIDS) cases, and age-matched controls (infants dying in a traumatic event). Expression of 4 stress...... responsive genes, HSPA1B, HSPD1, HMOX1, and SOD2, was studied by quantitative reverse transcriptase PCR analysis of RNA purified from cells cultured under standard or various thermal stress conditions. The expression of all 4 genes was highly influenced by thermal stress in both SIDS and control cells. High...

  2. Successful long-term airway stabilization with a modified pacifier in a syndromic infant.

    Science.gov (United States)

    Cizmeci, Mehmet N; Kanburoglu, Mehmet K; Ziraman, Selma; Tatli, Mustafa M

    2014-02-01

    Airway management is one of the key aspects of neonatal anesthesia, and an oropharyngeal airway is used in daily intensive care practice to relieve upper-airway obstruction. Cleft palate is among the various congenital malformations that can cause difficult airway management. We describe a syndromic infant with alobar holoprosencephaly, whose long-term airway patency was maintained with a modified infant pacifier. We would like to share our experience and contribute to the literature with the introduction of a readily available and easily-inserted apparatus.

  3. Does β-APP staining of the brain in infant bed-sharing deaths differentiate these cases from sudden infant death syndrome?

    DEFF Research Database (Denmark)

    Jensen, Lisbeth Lund; Banner, Jytte; Byard, Roger W

    2014-01-01

    Archival cerebral tissue from infants whose deaths were attributed to sudden infant death syndrome (SIDS) from South Australia and Western Denmark were stained for β-amyloid precursor protein (β-APP) and graded according to a simple scoring chart. The resulting APP scores were correlated with sle......Archival cerebral tissue from infants whose deaths were attributed to sudden infant death syndrome (SIDS) from South Australia and Western Denmark were stained for β-amyloid precursor protein (β-APP) and graded according to a simple scoring chart. The resulting APP scores were correlated...... with sleeping situation (shared vs. alone) showing a significantly higher amount of β-APP staining in the non-bed-sharing, than in the bed-sharing infants (Mann-Whitney, Australia: p = 0.0128, Denmark: p = 0.0014, Combined: p = 0.0031). There was also a marked but non-significant difference in sex distribution...... of β-APP staining was significantly higher in infants who were sleeping alone compared to those who were bed-sharing with one or more adults, in both an Australian and Danish cohort of SIDS infants. Whether this results from differences in the speed with which these infants die, differences in lethal...

  4. [Dehydration and metabolic alkalosis: an unusual presentation of cystic fibrosis in an infant].

    Science.gov (United States)

    Aranzamendi, Roberto J; Breitman, Fanny; Asciutto, Carolina; Delgado, Norma; Castaños, Claudio

    2008-10-01

    Cystic fibrosis (CF) may present during neonatal period with classic clinic symptoms related to the disease. The severity of the disease is multifactorial, one of the factors depends on the level of activity of the CFTR protein, which is related with the mutation type that affects the patient. An infant is presented who developed recurrent episodes of vomiting, anorexia, weight loss, dehydration and electrolyte abnormalities, such as metabolic alkalosis, hyponatremia, hypokalemia and hypochloremia. CF was diagnosed after the third episode showing an unusual and not very publicized presentation of the disease. Mutations !F 508 and 2789+5G-A were found. CF should be considered in patients of any age, but particularly in infants, presenting with anorexia, vomiting, failure to thrive, that are associated with recurrent episodes of hyponatremic hypochloremic, dehydration with metabolic alkalosis unexplained by other causes, even in the absence of respiratory or gastrointestinal symptoms or failure to thrive.

  5. Unusual presentation of prune belly syndrome: a case report.

    Science.gov (United States)

    Demisse, Abayneh Girma; Berhanu, Ashenafi; Tadesse, Temesgen

    2017-12-04

    Prune belly syndrome is a rare congenital malformation of unknown etiology, with the following triad of findings: abdominal muscle wall weakness, undescended testes, and urinary tract abnormalities. In most cases, detection of prune belly syndrome occurs during neonatal or infancy period. In this case report, we describe a 12-year-old boy from Ethiopia with the triad of findings of prune belly syndrome along with skeletal malformations. We are unaware of any previous report of prune belly syndrome in Ethiopia. A 12-year-old Amhara boy from the Northwest Gondar Amhara regional state presented to our referral hospital with a complaint of swelling over his left flank for the past 3 months. Maternal pregnancy course and medical history were noncontributory, and he had an attended birth at a health center. He has seven siblings, none of whom had similar symptoms. On examination he had a distended abdomen, asymmetric with bulging left flank, visible horizontal line, upward umbilical slit, and absent rectus abdominis muscles. His abdomen was soft with a tender cystic, bimanually palpable mass on the left flank measuring 13 × 11 cm. Both testes were undescended and he also has developmental dysplasia of the hips. An abdominal ultrasound revealed a large cystic mass in his left kidney area with echo debris and a hip X-ray showed bilateral developmental dysplasia of the hip. Intraoperative findings were cystic left kidney, both testes were intraperitoneal, tortuous left renal vein, enlarged bladder reaching above umbilicus, and left megaureter. bilateral orchidectomy and left nephrectomy were done. He was given intravenously administered antibiotics for treatment of pyelonephritis and discharged home with an appointment for follow up and possible abdominoplasty. In the current report delayed presentation contributed to testicular atrophy and decision for orchidectomy. Furthermore, he will be at potential risk for sex hormone abnormality. Therefore, diagnosis of prune

  6. Unusual presentation of uncommon disease: anorexia nervosa presenting as wernicke-korsakoff syndrome-a case report from southeast Asia.

    Science.gov (United States)

    Mushtaq, Raheel; Shoib, Sheikh; Shah, Tabindah; Bhat, Mudasir; Singh, Randhir; Mushtaq, Sahil

    2014-01-01

    Anorexia nervosa presenting as Wernicke-Korsakoff syndrome is rare. The causes of Wernicke-Korsakoff syndrome are multiple like alcohol abuse, thyrotoxicosis, haemodialysis, severe malnutrition because of gastric carcinoma and pyloric obstruction, hyperemesis gravidarum, and prolonged parenteral feeding. We report a case of anorexia nervosa, who presented with Wernicke's encephalopathy and progressed to Korsakoff's syndrome. Knowledge, awareness, and early intervention of anorexia nervosa by mental health professionals can prevent development of Wernicke-Korsakoff syndrome.

  7. Intermittent Brugada Syndrome Presenting with Syncope in an Adult Female

    Directory of Open Access Journals (Sweden)

    Patricia Chavez

    2014-01-01

    Full Text Available Background. Brugada syndrome accounts for 4–12% of all sudden deaths worldwide and at least 20% of sudden deaths in patients with structurally normal hearts. Case Report. A 48-year-old female presented to the emergency department after two witnessed syncopal episodes. While awaiting discharge had a third collapse followed by cardiac arrest with shockable rhythm. Initial electrocardiogram showed wide QRS complex with left axis deviation, ST-segment elevation of 2 mm followed by a negative T wave with no isoelectric separation, suggestive of spontaneous intermittent Brugada type 1 pattern. Cardiac magnetic resonance imaging demonstrated neither structural heart disease nor abnormal myocardium. After placement of an implantable cardioverter defibrillator the patient was discharged. Why should an emergency physician be aware of this? Brugada syndrome is an infrequently encountered clinical entity which may have a fatal outcome. This syndrome primarily presents with syncope. It should be considered as a component of differential diagnosis in patients with family history of syncope and sudden cardiac death.

  8. Rendu-Osler-Weber syndrome presenting with pulmonary arteriovenous fistula

    International Nuclear Information System (INIS)

    Halefoglu, A.M.

    2005-01-01

    A pulmonary arteriovenous fistula is an abnormal connection between pulmonary arteries and veins. Patients with Rendu-Osler-Weber syndrome may present with this vascular malformation, which is a typical finding of the disease. Approximately 5-15% of Rendu-Osler-Weber syndrome patients have pulmonary arteriovenous malformations (AVM) and there is usually a family history of AVM in these patients. The malformations are usually located in the lower lobes. In this paper, I describe a 49-year-old male patient with dyspnoea, cough, haemoptysis and epistaxis. Physical examination showed nasal telangiectasias, cyanosis of the lips and nails, and a systolic bruit over the left lung. Chest X-ray revealed a 5-cm mass in the left lower lobe and after magnetic resonance examination, together with 3-D magnetic resonance angiography, it was demonstrated to be a pulmonary arteriovenous fistula. The history of a niece with a similar history of suspected pulmonary arteriovenous fistula led me to consider the possibility of Rendu-Osler-Weber syndrome presenting with a pulmonary arteriovenous fistula. Copyright (2005) Blackwell Science Pty Ltd

  9. Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus

    Directory of Open Access Journals (Sweden)

    Gianluca Vergine

    2018-01-01

    Full Text Available Bartter syndrome (BS type 1 (OMIM #601678 is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the SLC12A1 gene, encoding the furosemide-sensitive Na-K-Cl cotransporter. Recently, a phenotypic variability has been observed in patients with genetically determined BS, including absence of nephrocalcinosis, hypokalemia, and/or metabolic alkalosis in the first year of life as well as persistent metabolic acidosis mimicking distal renal tubular acidosis. We report the case of a child with a genetically determined diagnosis of Bartter syndrome type 1 who presented with a phenotype of nephrogenic diabetes insipidus, with severe hypernatremia and urinary concentrating defect. In these atypical cases, molecular analysis is mandatory to define the diagnosis, in order to establish the correct clinical and therapeutic management.

  10. Kartagener's syndrome presented with nasal obstruction: A case report

    Directory of Open Access Journals (Sweden)

    Suna Asilsoy

    2014-08-01

    Full Text Available The nasal polyposis is a chronic inflammatory process of the nasal mucosa. Although it is rare in children, there may be also association with cystic fibrosis and primary ciliary dyskinesia. About 50% of primary ciliary dyskinesia patients develop situs inversus and it is known as Kartagener's syndrome. The Kartagener's sydrome is a rare autosomal recessive disorder characterized by sinusitis, bronchiectasis, situs inversus. Clinically, patients present to the otolaryngologist with nasal obstruction. We as pediatricians, should consider nasal polyposis as a rare cause of nasal obstruction in children. In the presence of recurrent upper and lower respiratory tract infections accompanying nasal polyposis, Kartagener's syndrome must be kept in mind as a rare reason. [Cukurova Med J 2014; 39(4.000: 942-945

  11. Noninvasive ventilatory strategies in the management of a newborn infant and three children with congenital central hypoventilation syndrome.

    Science.gov (United States)

    Tibballs, James; Henning, Robert D

    2003-12-01

    Four children with congenital central hypoventilation syndrome (CCHS) treated with noninvasive techniques of ventilation are presented. Two infants (one in the newborn period) were treated with nasal mask bilevel positive airway pressure (BiPAP), and then both were transitioned to negative pressure chamber ventilation at several years of age because of possible midface hypoplasia. Tracheostomies were not performed. Two older children were transitioned from mechanical ventilation via tracheostomy to nasal mask BiPAP, and then in one case to negative pressure chamber ventilation, and in the other to phrenic nerve pacing. Their tracheostomies were removed. Copyright 2003 Wiley-Liss, Inc.

  12. Tidal Volume Requirement in Mechanically Ventilated Infants with Meconium Aspiration Syndrome.

    Science.gov (United States)

    Sharma, Saumya; Clark, Shane; Abubakar, Kabir; Keszler, Martin

    2015-08-01

    The aim of the study is to test the hypothesis that increased physiologic dead space and functional residual capacity seen in meconium aspiration syndrome (MAS) results in higher tidal volume (VT) requirement to achieve adequate ventilation. Retrospective review of infants with MAS admitted to our hospital from 2000 to 2010 managed with conventional ventilation. Demographics, ventilator settings, VT, respiratory rate (RR), and blood gas values were recorded. Minute ventilation (MV) was calculated as RR × VT. Only VT values with corresponding partial pressure of carbon dioxide (Paco 2) between 35 and 60 mm Hg were included. Mean VT/kg and MV/kg were calculated for each patient. Forty infants ventilated for lung disease other than MAS or pulmonary hypoplasia served as controls. Birth weights of the 28 MAS patients and 40 control infants were similar (3,330 ± 500 g and 3,300 ± 640 g). Two patients in each group required extracorporeal membrane oxygenation. Infants with MAS required 26% higher VT and 42% higher MV compared with controls to maintain equal Paco 2. Infants with MAS require larger VT and higher total MV to achieve similar alveolar ventilation, consistent with pathophysiology of MAS. Our findings provide the first reference data to guide selection of VT in infants with MAS. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  13. Atypical presentation of posterior reversible encephalopathy syndrome: Two cases

    Directory of Open Access Journals (Sweden)

    Nishant Kumar

    2018-01-01

    Full Text Available Posterior reversible encephalopathy syndrome (PRES is a clinico-neuroradiological entity, first described in 1996. It is commonly associated with systemic hypertension, intake of immunosuppressant drugs, sepsis and eclampsia and preeclampsia. Headache, alteration in consciousness, visual disturbances and seizures are common manifestations of PRES. Signs of pyramidal tract involvement and motor dysfunction are uncommon clinical findings. However, clinical presentation is not diagnostic. On neuroimaging, lesions are characteristically found in parieto occipital region of the brain due to vasogenic edema. We report two cases of PRES with atypical clinical presentation-one which was suggestive of neurocysticercosis and the other in which agitation and opisthotonic posture were predominant features.

  14. Macrophage Activation Syndrome as Initial Presentation of Systemic Lupus Erythematosus

    Directory of Open Access Journals (Sweden)

    Say-Tin Yeap

    2008-04-01

    Full Text Available Macrophage activation syndrome (MAS is known to be a severe and potentially life-threatening complication of rheumatic disorder, especially systemic juvenile rheumatoid arthritis. It is very rare for MAS to be an initial presentation of systemic lupus erythematosus (SLE. Here, we report a 14-year-old girl in whom MAS developed as an initial presentation of SLE. With early diagnosis and administration of cyclosporine A, she had a fair outcome. Further testing showed positive anti-dsDNA about 8 months later.

  15. Hyperviscosity Syndrome as Presentation of Multiple Myeloma. A Case Report

    Directory of Open Access Journals (Sweden)

    Miguel Ángel Serra Valdés

    2013-03-01

    Full Text Available Emergencies that may arise during the evolution of hematologic diseases are diverse, owing to both, the course of the underlying disease and the time they are presented. They may be the first manifestation of the disease or occur in the course of its evolution. We present a clinical case where hyperviscosity syndrome with neurological manifestations becomes the onset for the diagnosis of multiple myeloma, a rare occurrence. The response was favorable after quickly providing the established medical treatment for these cases.

  16. Chediak-Higashi syndrome presenting in the accelerated phase

    Directory of Open Access Journals (Sweden)

    Subramani Palaniyandi

    2017-07-01

    Full Text Available Chediak-Higashi syndrome (CHS is an extremely rare autosomal recessive disorder characterised by recurrent pyogenic infections, partial oculocutaneous albinism, and mild bleeding. The most reliable finding that helps in diagnosis is abnormally large granules in leukocytes and other granule-containing cells. Herein we report a case of CHS in a 3-month-old girl who presented to us in the accelerated phase of the disease. The case is reported because of the extreme rarity of CHS presenting in the accelerated phase at diagnosis.

  17. Pulmonary embolism as the primary presenting feature of nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Pallavi Periwal

    2016-01-01

    Full Text Available A 36-year-old previously healthy male presented with subacute onset of shortness of breath and chest pain. He was diagnosed with bilateral extensive pulmonary embolism (PE. In the absence of any predisposing factors, an extensive workup for unprovoked thrombophilia was done. During the course of his illness, the patient developed anasarca and was diagnosed to be suffering from nephrotic syndrome (NS, secondary to membranous glomerulopathy. Although, thrombotic complications are commonly associated with NS, it is unusual for PE to be the primary presenting feature in these patients.

  18. Laryngeal carcinoma presenting as polymyositis: A paraneoplastic syndrome

    Directory of Open Access Journals (Sweden)

    Ritesh Sahu

    2016-01-01

    Full Text Available Laryngeal carcinoma is rarely associated with paraneoplastic syndrome. Inflammatory myopathy presenting as paraneoplastic event is commonly associated with carcinomas of ovary, lung, pancreas, stomach, colorectal, and non-Hodgkin′s lymphoma. We report a case of elderly male, who presented with proximal muscle weakness and found to be associated with laryngeal carcinoma. Diagnosis of polymyositis (PM was confirmed based on clinical features, laboratory test, and muscle biopsy. Exclusion of other commonly associated malignancies was done. This patient improved gradually after 6 months of immunosuppressive therapy and management of underlying cancer.

  19. A Guyon's canal ganglion presenting as occupational overuse syndrome: A case report.

    LENUS (Irish Health Repository)

    Chan, Jeffrey C Y

    2008-01-01

    Occupational overuse syndrome (OOS) can present as Guyon\\'s canal syndrome in computer keyboard users. We report a case of Guyon\\'s canal syndrome caused by a ganglion in a computer user that was misdiagnosed as OOS.

  20. Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation.

    Science.gov (United States)

    Towe, Christopher T; White, Frances V; Grady, R Mark; Sweet, Stuart C; Eghtesady, Pirooz; Wegner, Daniel J; Sen, Partha; Szafranski, Przemyslaw; Stankiewicz, Pawel; Hamvas, Aaron; Cole, F Sessions; Wambach, Jennifer A

    2018-03-01

    To describe disease course, histopathology, and outcomes for infants with atypical presentations of alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV) who underwent bilateral lung transplantation. We reviewed clinical history, diagnostic studies, explant histology, genetic sequence results, and post-transplant course for 6 infants with atypical ACDMPV who underwent bilateral lung transplantation at St. Louis Children's Hospital. We compared their histology with infants with classic ACDMPV and compared their outcomes with infants transplanted for other indications. In contrast with neonates with classic ACDPMV who present with severe hypoxemia and refractory pulmonary hypertension within hours of birth, none of the infants with atypical ACDMPV presented with progressive neonatal respiratory failure. Three infants had mild neonatal respiratory distress and received nasal cannula oxygen. Three other infants had no respiratory symptoms at birth and presented with hypoxemia and pulmonary hypertension at 2-3 months of age. Bilateral lung transplantation was performed at 4-20 months of age. Unlike in classic ACDMPV, histopathologic findings were not distributed uniformly and were not diffuse. Three subjects had apparent nonmosaic genetic defects involving FOXF1. Two infants had extrapulmonary anomalies (posterior urethral valves, inguinal hernia). Three transplanted children are alive at 5-16 years of age, similar to outcomes for infants transplanted for other indications. Lung explants from infants with atypical ACDMPV demonstrated diagnostic but nonuniform histopathologic findings. The 1- and 5-year survival rates for infants with atypical ACDMPV are similar to infants transplanted for other indications. Given the clinical and histopathologic spectra, ACDMPV should be considered in infants with hypoxemia and pulmonary hypertension, even beyond the newborn period. Copyright © 2017 Elsevier Inc. All rights reserved.

  1. Iatrogenic Cushing’s Syndrome in an Infant

    OpenAIRE

    Namburu, Rajendra Prasad; T.S., Karthik; Reddy P., Amaresh

    2013-01-01

    A high potency, long acting and/or the extended use of oral corticosteroids, particularly in children, may cause suppression of the hypothalamo-pituitary-adrenal axis. However, the iatrogenic Cushing’s syndrome in the infantile age group is rare and only few patients have been reported to date in the literature. Here, we are reporting a case of iatrogenic Cushing’s syndrome in a 5-month-old male child, whose parents brought him to the hospital for puffiness of the face and overweight.

  2. Iatrogenic Cushing’s Syndrome in an Infant

    Science.gov (United States)

    Namburu, Rajendra Prasad; T.S., Karthik; Reddy P., Amaresh

    2013-01-01

    A high potency, long acting and/or the extended use of oral corticosteroids, particularly in children, may cause suppression of the hypothalamo-pituitary-adrenal axis. However, the iatrogenic Cushing’s syndrome in the infantile age group is rare and only few patients have been reported to date in the literature. Here, we are reporting a case of iatrogenic Cushing’s syndrome in a 5-month-old male child, whose parents brought him to the hospital for puffiness of the face and overweight. PMID:23542874

  3. Is It Time for a Sudden Infant Death Syndrome (SIDS) Awareness Campaign? Community Stakeholders' Perceptions of SIDS

    Science.gov (United States)

    Gollenberg, Audra; Fendley, Kim

    2018-01-01

    Sudden infant death syndrome (SIDS) remains a leading cause of infant death in the United States, and in Virginia. We sought to gauge the perceptions among community-identified stakeholders regarding community resource needs to reduce SIDS. Snowball sampling identified important community stakeholders to be interviewed as key informants. A…

  4. Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome.

    Science.gov (United States)

    Eker, Hatice Koçak; Derinkuyu, Betül Emine; Ünal, Sevim; Masliah-Planchon, Julien; Drunat, Séverine; Verloes, Alain

    2014-01-01

    Baraitser-Winter syndrome (BRWS) is a rare condition affecting the development of the brain and the face. The most common characteristics are unusual facial appearance including hypertelorism and ptosis, ocular colobomas, hearing loss, impaired neuronal migration and intellectual disability. BRWS is caused by mutations in the ACTB and ACTG1 genes. Cerebro-fronto-facial syndrome (CFFS) is a clinically heterogeneous condition with distinct facial dysmorphism, and brain abnormalities. Three subtypes are identified. We report a female infant with striking facial features and brain anomalies (included polymicrogyria) that fit into the spectrum of the CFFS type 3 (CFFS3). She also had minor anomalies on her hands and feet, heart and kidney malformations, and recurrent infections. DNA investigations revealed c.586C>T mutation (p.Arg196Cys) in ACTB. This mutation places this patient in the spectrum of BRWS. The same mutation has been detected in a polymicrogyric patient reported previously in literature. We expand the malformation spectrum of BRWS/CFFS3, and present preliminary findings for phenotype-genotype correlation in this spectrum. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  5. Misdiagnosis of Bland-White-Garland Syndrome: Report of Two Cases with Different Presentations

    Directory of Open Access Journals (Sweden)

    Akbar Molaei

    2014-03-01

    Full Text Available Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA or Bland-White-Garland syndrome is usually an isolated cardiac anomaly but, in rare incidences, has been described with patent ductus arteriosus, ventricular septal defect, and tetralogy of Fallot. This syndrome may cause sudden death in infants and young people but in this case report we present two different types of presentation. First case was a 3 year old girl diagnosed with dilated cardiomyopathy since her infancy. Her electrocardiography showed prominent Q wave in lateral leads. Dilated right coronary artery was revealed by echocardiography. The second case was a girl with prolapsed mitral valve and chest pain but similar to first case she had prominent Q wave in lateral leads at her electrocardiography and dilated right coronary artery but without heart failure. ALCAPA in children may present with ambiguous presentations differing from dilated cardiomyopathy and full blown heart failure to an atypical chest pain attributed to prolapsed mitral valve.

  6. ATYPICAL HEMOLYTIC UREMIC SYNDROME WITH OBSTRUCTIVE HYDROCEPHALUS IN AN INFANT

    OpenAIRE

    Sahajananda; Kayalvizhi; Venkateshmurthy; Karthik; Sudheer

    2015-01-01

    Hemolytic urem ic syndrome (HUS) which is characterized by a triad of hemolytic anemia, low platelet count and acute renal failure was first described by Gasser and others in 1955 . (1,2) Initially it used to have a mortality rate of 50 % to 80%. But the improved diagnosti c methods and treatment strategies has reduced the m...

  7. Proteomic MALDI-TOF/TOF-IMS examination of peptide expression in the formalin fixed brainstem and changes in sudden infant death syndrome infants.

    Science.gov (United States)

    Hunt, Nicholas J; Phillips, Leo; Waters, Karen A; Machaalani, Rita

    2016-04-14

    Matrix assisted laser desorption/ionisation imaging mass spectrometry (MALDI-IMS) has not previously been utilised to examine sudden infant death syndrome (SIDS). This study aimed to optimise MALDI IMS for use on archived formalin-fixed-paraffin-embedded human infant medulla tissue (n=6, controls; n=6, SIDS) to evaluate differences between multiple nuclei of the medulla by using high resolution IMS. Profiles were compared between SIDS and age/sex matched controls. LC-MALDI identified 55 proteins based on 321 peptides across all samples; 286 peaks were found using IMS, corresponding to these 55 proteins that were directly compared between controls and SIDS. Control samples were used to identify common peptides for neuronal/non-neuronal structures allowing identification of medullary regions. In SIDS, abnormal expression patterns of 41 peptides (p≤0.05) corresponding to 9 proteins were observed; these changes were confirmed with immunohistochemistry. The protein abnormalities varied amongst nuclei, with the majority of variations in the raphe nuclei, hypoglossal and pyramids. The abnormal proteins are not related to a previously identified neurological disease pathway but consist of developmental neuronal/glial/axonal growth, cell metabolism, cyto-architecture and apoptosis components. This suggests that SIDS infants have abnormal neurological development in the raphe nuclei, hypoglossal and pyramids of the brainstem, which may contribute to the pathogenesis of SIDS. This study is the first to perform an imaging mass spectrometry investigation in the human brainstem and also within sudden infant death syndrome (SIDS). LC MALDI and MALDI IMS identified 55 proteins based on 285 peptides in both control and SIDS tissue; with abnormal expression patterns present for 41/285 and 9/55 proteins in SIDS using IMS. The abnormal proteins are critical for neurological development; with the impairment supporting the hypothesis that SIDS may be due to delayed neurological

  8. Low cerebrospinal fluid hypocretin levels during sudden infant death syndrome (SIDS) risk period.

    Science.gov (United States)

    Lancien, Marion; Inocente, Clara Odilia; Dauvilliers, Yves; Kugener, Beatrice; Scholz, Sabine; Raverot, Veronique; Lin, Jian-Sheng; Guyon, Aurore; Gustin, Marie-Paule; Franco, Patricia

    2017-05-01

    The temporal association between sudden infant death syndrome (SIDS) and sleep suggests that the arousability from sleep provides a protective mechanism for survival. Recently, the hypocretin system, which promotes wakefulness, has been implicated in SIDS, since it has been reported that SIDS victims have fewer hypocretin neurons than infants who have died from other causes. To understand the role of hypocretin in SIDS, it is essential to better understand how this system matures. The present study compared cerebrospinal fluid (CSF) hypocretin in children aged 2-6 months, which is the age of peak incidence for SIDS, to both younger and older children. Hypocretin levels were measured in CSF samples from 101 children who underwent a clinically relevant lumbar puncture. Children were separated into five age groups: 0-2 months, 2-6 months, 1-5 years, 5-10 years, and 10-18 years. Hypocretin levels were not significantly different between 1-5 years, 5-10 years, and 10-18 years. Therefore, these three groups were pooled into a single one (1-18 years) for further analysis. Between the 0-2 month, 2-6 month, and 1-18 year groups, a significant difference in CSF hypocretin levels existed (p = 0.001). Simple comparisons showed that CSF hypocretin levels in the 2-6 month age group were significantly lower than hypocretin levels in both the 0-2 month and 1-18 year group (p hypocretin levels were lower at the age of peak incidence for SIDS. This could underlie an increased vulnerability to SIDS at this specific age. Copyright © 2017. Published by Elsevier B.V.

  9. The experiences of NICU nurses in caring for infants with neonatal abstinence syndrome.

    Science.gov (United States)

    Murphy-Oikonen, Jodie; Brownlee, Keith; Montelpare, William; Gerlach, Keri

    2010-01-01

    This study explored the experiences of NICU nurses in caring for infants with neonatal abstinence syndrome (NAS). A qualitative research approach was used with open-ended questions employing computer-assisted personal interviews. Fourteen NICU nurses employed in a regional hospital provided responses. The nurses reflected a personal struggle between a desire to employ their technical and critical nursing skills and the need to provide expected maternal care to NAS infants. Other themes included frustration and burnout, challenges to values about parenting, and increased awareness of drug use in the community and at home. The results suggest that nurses underrate the skill required to care for infants with NAS. The level of knowledge, patience, and commitment to these newborns should be reframed to increase job satisfaction, and education should be offered to nurses about women struggling with addictions.

  10. Severe neonatal-onset panniculitis in a female infant with Prader-Willi syndrome.

    Science.gov (United States)

    Sakthivel, Muthukumar; Hughes, Stephen M; Riley, Phil; Arkwright, Peter D; Mukherjee, Anindya; Ramsden, Simon; Urquhart, Jill; Crow, Yanick J

    2011-12-01

    The panniculitides are a group of heterogeneous inflammatory diseases involving the subcutaneous fat, the pathogenesis of which is poorly understood. Here, we report on a female infant with Prader-Willi syndrome who developed a systemic inflammatory disorder in the neonatal period demonstrating recurrent panniculitis as a prominent feature. This is the second report of an association between Prader-Willi syndrome and panniculitis. Such an association might be explained by the unmasking of a recessive allele as a consequence of hemizygosity, in the case of a 15q11 deletion, or homozygosity, in the case of maternal isodisomy. Copyright © 2011 Wiley Periodicals, Inc.

  11. Atypical haemolytic uraemic syndrome presenting initially as suspected meningococcal disease: a case report

    Directory of Open Access Journals (Sweden)

    Sivamurthy Siddharthan

    2007-10-01

    Full Text Available Abstract Background Haemolytic uraemic syndrome (HUS is the most common cause of acute renal failure in children and is usually linked with Escherichia coli O157 infection. With a fatality rate of around 5%, some reports have associated antibiotic treatment with a worsening prognosis. Case Presentation We describe a female infant patient, initially treated for suspected meningococcal septicaemia, who went on to develop renal complications and thrombocytopenia characteristic of HUS. A subsequent positive stool sample for E. coli O157 confirmed HUS as an appropriate diagnosis, although there was no evidence of diarrhoea or vomiting throughout the course of her management. Conclusion The urgency of early recognition and treatment for suspected meningococcal disease in very young children while entirely appropriate can initially divert attention from other serious conditions. Evidence of infection with E. coli O157 infection in this case also highlights what can be a blurred distinction between atypical (non-diarrhoeal HUS from classical HUS of infective origin.

  12. Atypical haemolytic uraemic syndrome presenting initially as suspected meningococcal disease: a case report

    Science.gov (United States)

    Sivamurthy, Siddharthan; Mooney, John D; Kenny, Tom D

    2007-01-01

    Background Haemolytic uraemic syndrome (HUS) is the most common cause of acute renal failure in children and is usually linked with Escherichia coli O157 infection. With a fatality rate of around 5%, some reports have associated antibiotic treatment with a worsening prognosis. Case Presentation We describe a female infant patient, initially treated for suspected meningococcal septicaemia, who went on to develop renal complications and thrombocytopenia characteristic of HUS. A subsequent positive stool sample for E. coli O157 confirmed HUS as an appropriate diagnosis, although there was no evidence of diarrhoea or vomiting throughout the course of her management. Conclusion The urgency of early recognition and treatment for suspected meningococcal disease in very young children while entirely appropriate can initially divert attention from other serious conditions. Evidence of infection with E. coli O157 infection in this case also highlights what can be a blurred distinction between atypical (non-diarrhoeal) HUS from classical HUS of infective origin. PMID:17971197

  13. Primitive neuroectodermal tumor presenting with superior vena cava syndrome

    Directory of Open Access Journals (Sweden)

    Vimal Kumar Nag

    2014-01-01

    Full Text Available Peripheral primitive neuroectodermal tumor (PNET of the chest wall is considered akin to Ewing′s sarcoma in terms of histology, immunohistology and cytogenetics. These tumors usually occur in children and young adults. These tumors usually present with cough, fever, chest pain and hemoptysis. Initial presentation as superior vena cava syndrome (SVCS is rarely seen. Complete blockage of venous drainage in SVCS may lead to fatal outcome. These tumors are highly aggressive with a high incidence of local recurrence and distant metastases. Combination therapy comprising of chemotherapy, radiotherapy and surgery can be lifesaving in these patients. We present a case of primary mediastinal PNET in a 12-year-old girl. To the best of our knowledge, this is the first case of PNET presenting with SVCS in children.

  14. Fetal valproate syndrome in a 2-month-old male infant

    OpenAIRE

    Zaki, Syed A.; Phulsundar, Amol; Shanbag, Preeti; Mauskar, Anupama

    2010-01-01

    Fetal valproate syndrome (FVS) results from prenatal exposure to valproic acid. It is characterized by a distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction. We describe a 2-month-old male infant with the typical dysmorphic features characteristic of FVS. He had a persistent left superior vena cava draining into a dilated coronary sinus and mild pulmonary hypertension. There was a history of maternal intake of sodium valproate during pr...

  15. Fetal valproate syndrome in a 2-month-old male infant

    Science.gov (United States)

    Zaki, Syed A.; Phulsundar, Amol; Shanbag, Preeti; Mauskar, Anupama

    2010-01-01

    Fetal valproate syndrome (FVS) results from prenatal exposure to valproic acid. It is characterized by a distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction. We describe a 2-month-old male infant with the typical dysmorphic features characteristic of FVS. He had a persistent left superior vena cava draining into a dilated coronary sinus and mild pulmonary hypertension. There was a history of maternal intake of sodium valproate during pregnancy. PMID:20427941

  16. [The psychological characteristics of the patents presenting with pain syndrome].

    Science.gov (United States)

    Aĭvazian, T A; Zaĭtsev, V P

    2014-01-01

    The psychological characteristics of 336 patients presenting with chronic somatic diseases and long-standing pain syndrome were analysed. It was found that the severity of pain is related to the combination of hypochondriacal, anxious and depressive disorders with rigidity and the tendency toward the formation of various fixations. The impaired quality of life in these patients was attributable to their dissatisfaction about limitations of daily physical activity and communication, as well as to the attitude of the relatives that changed after the disease was confirmed.

  17. A rare case of fish odor syndrome presenting as depression.

    Science.gov (United States)

    Khan, Shahbaz Ali; Shagufta, K

    2014-04-01

    A young lady presents to the psychiatry out-patient department with depressive symptoms. Evaluation revealed long standing stressor in the form of a foul odor emanating from her body and over a period of time resulting in social withdrawal and depression with significant impairment of day-to-day functioning. A diagnosis of trimethylaminurea (fish odor syndrome) and adjustment disorder was arrived at. Careful empathetic handling with psychoeducation, behavioral and cognitive counseling and a short course of antidepressants helped her improve significantly with return to almost normal functioning.

  18. Atypical Presentation of Antiphospholipid Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Cesare Mariotti

    2014-11-01

    Full Text Available We report an atypical presentation of Antiphospholipid syndrome (APS with concomitant subhyaloid hemorrhage, engorged and tortuous retinal veins, intraretinal hemorrhages, and cotton wool spots in a 38-year-old female. Medical treatment was preferred to any invasive treatment. The subhyaloid hemorrhage resolved spontaneously and the patient recovered a visual acuity of 20/20 in her right eye 3 months after the initial episode. A prompt diagnosis of this condition is fundamental to consider a systemic treatment to avoid any further thrombosis.

  19. Comparison of Feeding Strategies for Infants With Hypoplastic Left Heart Syndrome: A Randomized Controlled Trial.

    Science.gov (United States)

    Spillane, Nicole T; Kashyap, Sudha; Bateman, David; Weindler, Marilyn; Krishnamurthy, Ganga

    2016-07-01

    Infants with hypoplastic left heart syndrome are at risk for growth failure, particularly after stage 1 procedures. The effect of continuous enteral feedings on weight gain has not been previously investigated. A randomized controlled trial was performed in infants with hypoplastic left heart syndrome and single ventricle variants after stage 1 procedures. Eligible infants were randomized to a continuous and intermittent feeding regimen or an exclusive intermittent feeding regimen after stage 1 procedures and continued until hospital discharge. Anthropometric measures and markers of nutritional status were assessed throughout hospitalization. Twenty-six infants completed the study. There were no significant differences in weight gain, growth, or nutritional status. Weight gain on full enteral feedings was 24.3 versus 23.6 g/d (P = .88) for the combination (continuous and intermittent) versus intermittent feeding groups. Weight-for-age Z scores at discharge were -1.37 versus -1.2 (P = .59) for the combination versus intermittent groups. No significant differences in weight gain, growth, or nutritional status were observed at hospital discharge between the two feeding strategies. Despite both groups achieving target daily weight gain after attaining full feeds, growth failure continued to be a problem after stage 1 procedures. Further strategies to improve growth during initial hospitalization are needed. © The Author(s) 2016.

  20. A Context-Aware Indoor Air Quality System for Sudden Infant Death Syndrome Prevention

    Directory of Open Access Journals (Sweden)

    Daniel H. De La Iglesia

    2018-03-01

    Full Text Available Context-aware monitoring systems designed for e-Health solutions and ambient assisted living (AAL play an important role in today’s personalized health-care services. The majority of these systems are intended for the monitoring of patients’ vital signs by means of bio-sensors. At present, there are very few systems that monitor environmental conditions and air quality in the homes of users. A home’s environmental conditions can have a significant influence on the state of the health of its residents. Monitoring the environment is the key to preventing possible diseases caused by conditions that do not favor health. This paper presents a context-aware system that monitors air quality to prevent a specific health problem at home. The aim of this system is to reduce the incidence of the Sudden Infant Death Syndrome, which is triggered mainly by environmental factors. In the conducted case study, the system monitored the state of the neonate and the quality of air while it was asleep. The designed proposal is characterized by its low cost and non-intrusive nature. The results are promising.

  1. A Context-Aware Indoor Air Quality System for Sudden Infant Death Syndrome Prevention.

    Science.gov (United States)

    De La Iglesia, Daniel H; De Paz, Juan F; Villarrubia González, Gabriel; Barriuso, Alberto L; Bajo, Javier

    2018-03-02

    Context-aware monitoring systems designed for e-Health solutions and ambient assisted living (AAL) play an important role in today's personalized health-care services. The majority of these systems are intended for the monitoring of patients' vital signs by means of bio-sensors. At present, there are very few systems that monitor environmental conditions and air quality in the homes of users. A home's environmental conditions can have a significant influence on the state of the health of its residents. Monitoring the environment is the key to preventing possible diseases caused by conditions that do not favor health. This paper presents a context-aware system that monitors air quality to prevent a specific health problem at home. The aim of this system is to reduce the incidence of the Sudden Infant Death Syndrome, which is triggered mainly by environmental factors. In the conducted case study, the system monitored the state of the neonate and the quality of air while it was asleep. The designed proposal is characterized by its low cost and non-intrusive nature. The results are promising.

  2. Delayed Presentation of Gluteal Compartment Syndrome: The Argument for Fasciotomy

    Directory of Open Access Journals (Sweden)

    John E. Lawrence

    2016-01-01

    Full Text Available A male patient in his fifties presented to his local hospital with numbness and weakness of the right leg which left him unable to mobilise. He reported injecting heroin the previous morning. Following an initial diagnosis of acute limb ischaemia the patient was transferred to a tertiary centre where Computed Tomography Angiography was reported as normal. Detailed neurological examination revealed weakness in hip flexion and extension (1/5 on the Medical Research Council scale with complete paralysis of muscle groups distal to this. Sensation to pinprick and light touch was globally reduced. Blood tests revealed acute kidney injury with raised creatinine kinase and the patient was treated for rhabdomyolysis. Orthopaedic referral was made the following day and a diagnosis of gluteal compartment syndrome (GCS was made. Emergency fasciotomy was performed 56 hours after the onset of symptoms. There was immediate neurological improvement following decompression and the patient was rehabilitated with complete nerve recovery and function at eight-week follow-up. This is the first documented case of full functional recovery following a delayed presentation of GCS with sciatic nerve palsy. We discuss the arguments for and against fasciotomy in cases of compartment syndrome with significant delay in presentation or diagnosis.

  3. Atypical presentation of cystic fibrosis: Obese adolescent with hypertension and pseudo-Bartter’s syndrome

    Directory of Open Access Journals (Sweden)

    Sovtić Aleksandar

    2012-01-01

    Full Text Available Introduction. Infants with cystic fibrosis may fail to thrive despite recommended caloric intake because of electrolyte disurbances caused by salt depletion resulting in hypochloremic metabolic alkalosis or pseudo-Bartter's syndrome. In most patients reported symptoms began in infancy, but it may be an initial presentation of disease in a previously healthy adolescent. Case report. A 15-year-old boy was admitted for evaluation of recurrent episodes of malaise associated with dehydration and acute renal insufficiency. Laboratory analysis showed hypochloremic metabolic alkalosis with hyponatremia and hypokalemia. On admission the boy was obese, with body weight of 95.5 kg (> P97, height 174 cm (> P75, and body mass index of 31.2 kg/m2 (> P95. Physical examination was inconclusive. Blood pressure holter monitoring proved significant systolic hypertension. Routine urinalysis, protein and electrolyte levels in urine were normal. Plasma renin and aldosteron were normal. Sweat chloride concentration was 63 mmol/L. Genetic testing confirmed the diagnosis of cystic fibrosis. Conclusion. To our knowledge, this is the first reported case of atypical presentation of cystic fibrosis in an adolescent presented with pseudo-Bartter's syndrome and signs of obesity and hypertension. We suggest that every patient with hypochloremic metabolic alkalosis should be evaluated for cystic fibrosis.

  4. Hepatic Malignancy in an Infant with Wolf-Hirschhorn Syndrome.

    Science.gov (United States)

    Rutter, Sara; Morotti, Raffaella A; Peterec, Steven; Gallagher, Patrick G

    2017-06-01

    Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome involving deletions of the chromosome 4p16 region associated with growth failure, characteristic craniofacial abnormalities, cardiac defects, and seizures. This report describes a six-month-old girl with WHS with growth failure and typical craniofacial features who died of complex congenital heart disease. Genetic studies revealed a 9.8 Mb chromosome 4p-terminal deletion. At autopsy, the liver was grossly unremarkable. Routine sampling and histologic examination revealed two hepatocellular nodular lesions with expanded cell plates and mild cytologic atypia. Immunohistochemical staining revealed these nodules were positive for glutamine synthetase and glypican 3, with increased Ki-67 signaling and diffuse CD34 expression in sinusoidal endothelium. These findings are consistent with hepatoblastoma or hepatocellular carcinoma. A possible association between WHS and hepatic malignancy may be an important consideration in the care and management of WHS patients.

  5. Primary pancreatic neuroblastoma presenting with opsoclonus–myoclonus syndrome

    Directory of Open Access Journals (Sweden)

    Samuel Galgano, MD

    2016-03-01

    Full Text Available Although neuroblastoma is a common solid organ malignancy in children, primary pancreatic neuroblastoma is a rare entity in children, with very few cases reported in the literature. The case discusses the presentation of a 21-month-old female presenting to the neurology clinic with ataxia and erratic eye movements. Our case illustrates the computed tomography, ultrasound, and scintigraphic findings of primary pancreatic neuroblastoma presenting as opsoclonus–myoclonus syndrome. Computed tomography and ultrasound demonstrated a vascular, enhancing mass in the pancreatic body clearly separate from the adrenal gland. Metaiodobenzylguanidine scan demonstrates focal intense uptake in the pancreatic body. The patient's diagnosis was confirmed with biopsy, and her malignancy responded well to conventional chemotherapy. The case is important in that it demonstrates the unusual imaging appearance of a primary pancreatic neuroblastoma.

  6. Autoimmune Progesterone Dermatitis Presenting as Stevens-Johnson Syndrome.

    Science.gov (United States)

    Drayer, Sara M; Laufer, Larry R; Farrell, Maureen E

    2017-10-01

    Autoimmune progesterone dermatitis is an uncommon disease presenting with cyclical skin eruptions corresponding with the menstrual cycle luteal phase. Because symptoms are precipitated by rising progesterone levels, treatment relies on hormone suppression. A 22-year-old nulligravid woman presented with symptoms mistaken for Stevens-Johnson syndrome. A cyclic recurrence of her symptoms was noted, and the diagnosis of autoimmune progesterone dermatitis was made by an intradermal progesterone challenge. After 48 months, she remained refractory to medical management and definitive surgical treatment with bilateral oophorectomy was performed. Autoimmune progesterone dermatitis is a challenging diagnosis owing to its rarity and variety of clinical presentations. Treatment centers on suppression of endogenous progesterone and avoidance of exogenous triggers. When these modalities fail, surgical management must be undertaken.

  7. An Investigation of the Mortality Rate and Risk Factors in Newborn Infants With Meconium Aspiration Syndrome

    Directory of Open Access Journals (Sweden)

    Sabzehei

    2016-08-01

    Full Text Available Background One of the serious challenges facing neonatal medicine is meconium aspiration syndrome, delays in the treatment of which can lead to high mortality. Objectives This study was designed and conducted with the aim of determining the mortality rate and risk factors affecting this rate in newborn infants with meconium aspiration syndrome. Methods This study was conducted as a retrospective descriptive research on newborn infants with meconium aspiration syndrome hospitalized at the neonatal intensive care unit (NICU of Fatemieh and Be’sat hospitals in Hamadan city during a 10-year period from 2004 to 2014. Demographic information of the mother and the newborn, hospitalization course, the need for mechanical ventilation, and complications and outcomes of disease were extracted and were analyzed using the SPSS software version 22. Results Sixty-three newborn infants, diagnosed with meconium aspiration syndrome, were entered in this study, 40% of them were male, 85.7% wighed more than 2500 g, and 17.5% were post term, 25.3% had a five-minute Apgar Score (AS5min of less than seven, 39.6% were nonvigorous at birth, 31.8% needed to be placed on mechanical ventilation, and 14.3% died during the hospitalization course. There was a significant relationship between the need for mechanical ventilation, nonvigorous state at the birth, complications of disease and mortality rate. Conclusions Despite the progress made in medicine, meconium aspiration syndrome is still one of the causes of newborn infants’ mortality. The mortality and morbidity rates can be reduced by improvement in perinatal care, prevention of post term delivery, timely caesarean and effective neonatal resuscitation at birth.

  8. Strategic reactions to infants: female self-presentation in a romantic context.

    Science.gov (United States)

    Dosmukhambetova, Dina; Manstead, Antony S R

    2013-04-07

    Research has demonstrated that humans engage in various self-presentational behaviours in the context of mate attraction. We build and expand on these efforts by showing that female facial behaviour also responds to the manipulation of romantic motivation in ways congruent with the logic of evolutionary theory. Given that childbearing is an important goal of human courtship, we hypothesized that during the initial stages of romantic encounters one way that women can advertize their quality is through their emotional reactions to children. Two studies were conducted to determine whether women would self-present in the context of romance by augmenting positive reactions (e.g., smiling more) or by attenuating negative reactions (e.g., frowning less). In both studies participants were undergraduate psychology students. Study 1 was an online study; it examined reported facial expressions towards and cognitive evaluations of infants. Study 2 was a laboratory study in which participants' spontaneous facial behavior was videotaped while they watched a video of infants (vs. a neutral film). In both studies we found support only for the hypothesis that, when in a romantic context, women attenuate negative reactions. Such attenuation was found for facial expressions, but not for cognitive or affective evaluations of infants.

  9. Evolution of surfactant therapy for respiratory distress syndrome: past, present, and future.

    Science.gov (United States)

    Sardesai, Smeeta; Biniwale, Manoj; Wertheimer, Fiona; Garingo, Arlene; Ramanathan, Rangasamy

    2017-01-01

    Respiratory distress syndrome (RDS) due to surfactant deficiency is the most common cause of respiratory failure in preterm infants. Tremendous progress has been made since the original description that surfactant deficiency is the major cause of RDS. Surfactant therapy has been extensively studied in preterm infants and has been shown to significantly decrease air leaks and neonatal and infant mortality. Synthetic and animal-derived surfactants from bovine as well as porcine origin have been evaluated in randomized controlled trials. Animal-derived surfactants generally result in faster weaning of respiratory support, shorter duration of invasive ventilation, and decreased mortality when compared to first- or second-generation of synthetic surfactants, but some of the second-generation synthetic surfactants are at least not inferior to the animal-derived surfactants. Using a higher initial dose of porcine derived surfactant may provide better outcomes when compared with using lower doses of bovine surfactants, likely, due to compositional difference and/or the dose. Third-generation synthetic surfactant containing peptide analogs of surfactant protein B and C are currently being studied. Less invasive intra-tracheal surfactant administration techniques in spontaneously breathing neonate receiving noninvasive ventilator support are also being evaluated. In the present era, prophylactic surfactant is not recommended as it may increase the risk of lung injury or death. In the future, surfactants may be used as vector to deliver steroids, or used in combination with molecules, such as, recombinant Club Cell Protein-10 (rhCC-10) to improve pulmonary outcomes. Also, noninvasive surfactant administration techniques, such as aerosolization or atomization of surfactant may play a greater role in the future.

  10. Catastrophic Antiphospholipid Syndrome Presenting as Bilateral Central Retinal Artery Occlusions

    Directory of Open Access Journals (Sweden)

    Steven S. Saraf

    2015-01-01

    Full Text Available A previously healthy 22-year-old African American woman presented with bilateral vision loss associated with headache. Her ocular examination was significant for bilateral retinal arterial “boxcarring,” retinal whitening, retinal hemorrhages, and cherry red spots. She was diagnosed with bilateral central retinal artery occlusions and was hospitalized due to concomitant diagnosis of stroke and hypercoagulable state. She was also found to be in heart failure and kidney failure. Rheumatology was consulted and she was diagnosed with catastrophic antiphospholipid syndrome in association with systemic lupus erythematosus. Approximately 7 months after presentation, the patient’s vision improved and remained stable at 20/200 and 20/80.

  11. Congenital nephrotic syndrome, an uncommon presentation of cytomegalovirus infection.

    Science.gov (United States)

    Rahman, H; Begum, A; Jahan, S; Muinuddin, G; Hossain, M M

    2008-07-01

    Cytomegalovirus (CMV) infection is a very rare infection in children as well as in infancy. In CMV infection extra renal manifestations in central nervous system (CNS), eyes and hematological are prominent and common than renal manifestation. We are describing two case reports one at the age of 5 months and another at one month with features of both extra renal and renal manifestations of nephritic syndrome. Our first case presented with predominant features of CNS manifestations like convulsion and spastic monoplegia, sensory type of deafness and absence of light reflexes along with nephritic features. Deafness and absence of light reflex were confirmed by audiometric and ophthalmological examination and brain atrophy was confirmed by CT scan. Our second case had features of hypothyroidism along with nephritic features. Hypothyroid status was confirmed by elevated serum TSH level and reduced T4 level. In both cases nephritic features were confirmed at bed site urine examination by heat coagulation test and other relevant investigations. CMV infection was confirmed in both cases by detecting anti CMV IgM by ELISA method. Both patients were clinically improved with intravenous gangcyclovir therapy. In these two cases reports, clinical, serological and therapeutic observation established the causal relationship between the CMV infection and nephrotic syndrome.

  12. Systemic capillary leak syndrome presenting as recurrent shock.

    Science.gov (United States)

    Karatzios, Christos; Gauvin, France; Egerszegi, E Patricia; Tapiero, Bruce; Buteau, Chantal; Rivard, Georges Etienne; Ovetchkine, Philippe

    2006-07-01

    To report a case of systemic capillary leak syndrome (SCLS) in a child. Case report. Pediatric intensive care unit. A 6-yr-old girl was admitted twice to the pediatric intensive care unit, at a 10-month interval, in severe shock with important edema. The patient presented with acute symptoms of abdominal pain, vomiting, and syncope in the hour preceding the shock. During both episodes necessary management included aggressive intravenous fluid rehydration, mechanical ventilation, and use of inotropes/vasopressors. Suspicion of a lower limb fasciitis necessitated surgical exploration, but pathology reports were negative on both occasions revealing only subcutaneous tissue edema. The patient recovered within 24 hrs on both episodes. Investigation ruled out cardiogenic shock and septic shock due to bacterial etiology. On the first episode, a nasopharyngeal aspirate was positive for influenza A (H3N2) by both viral immunofluorescence and culture. The presumed diagnosis was toxic shock syndrome associated with influenza virus. On the second episode, all bacterial and virology cultures remained negative. Hypovolemic shock was suspected, but there was no history of dehydration, bleeding, or gastrointestinal losses (persistent vomiting or diarrhea). Noninfectious causes of hypovolemic shock with edema were ruled out, leading us to believe that she suffered from SCLS. Although well described in the adult literature, there have been few reports of SCLS in pediatric patients. SCLS should be considered in the differential diagnosis of recurrent hypovolemic shock without identifiable cause. The only therapeutic intervention is to obtain vascular access when initial manifestations occur and give aggressive fluid reanimation.

  13. [Bouveret's syndrome: A rare presentation of gallstone ileus].

    Science.gov (United States)

    Franco-Avilés, Luis; Arce-Guridi, Héctor Tonalli; Mercado, Ulises

    2016-01-01

    Bouveret's syndrome is defined as gastric outlet obstruction caused by duodenal impaction of a gallstone which passes into the duodenal bulb through a cholecystoduodenal fistula. We reported the case of a 46-year-old woman who presented intermittent epigastric pain, nausea, vomiting, and weight loss of 2-months duration. The patient admitted alcohol and methamphetamine abuse. She had not fever, dehydration or jaundice. Amylase, electrolytes, enzymes, and creatinine level were within normal limits. Seven months previously she was seen in the emergency department for acute cholecystitis. In that occasion, an abdominal ultrasound was reported with cholelithiasis without dilatation of the intra/extra-hepatic bile duct. Abdominal plain radiographs showed no relevant findings. A laparoscopic surgery was performed. During the procedure a sub-hepatic plastron with firm adhesions was found. The gallbladder was found attached to the duodenal bulb and an impacted calculus in the duodenum. The procedure was converted to surgery. Surgeon decided to perform a Bilroth 1 as the best choice. Seven days later, she was discharged. The clinical manifestations of the Bouveret's syndrome are nonspecific. Preoperative diagnosis is a challenge for clinicians because of the rarity of this condition. Treatment must be individualized.

  14. Congenital piriform fossa sinus tract presenting as an asymptomatic neck mass in an infant

    Energy Technology Data Exchange (ETDEWEB)

    Bloom, David A. [Department of Pediatric Imaging, Children' s Hospital of Michigan, Wayne State University School of Medicine, 3901 Beaubien Boulevard, Detroit, MI 48201 (United States); Adler, Brent H. [Department of Radiology, Children' s Radiological Institute, Columbus Children' s Hospital, Columbus, Ohio (United States); Forsythe, Robert C. [Department of Pediatrics, Columbus Children' s Hospital, Ohio State University Medical Center, Columbus, Ohio (United States); Mutabagani, Khaled; Teich, Steven [Department of Surgery, Columbus Children' s Hospital, Ohio State University Medical Center, Columbus, Ohio (United States)

    2003-05-01

    A 5-month-old girl with an asymptomatic left-sided neck mass was demonstrated by ultrasound and upper gastrointestinal series (UGI), and confirmed at surgery, to have a congenital piriform fossa sinus tract (CPFST) that communicated with an intrathyroidal cyst. To demonstrate a case of CPFST presenting as an asymptomatic neck mass. Nearly all cases of CPFST present with infection or pain, making this case unique. Case report and review of the literature. CPFST with an associated cyst should be added to the differential diagnosis of asymptomatic cystic neck masses in infants, especially if the cyst is intrathyroidal by ultrasound. (orig.)

  15. Congenital piriform fossa sinus tract presenting as an asymptomatic neck mass in an infant

    International Nuclear Information System (INIS)

    Bloom, David A.; Adler, Brent H.; Forsythe, Robert C.; Mutabagani, Khaled; Teich, Steven

    2003-01-01

    A 5-month-old girl with an asymptomatic left-sided neck mass was demonstrated by ultrasound and upper gastrointestinal series (UGI), and confirmed at surgery, to have a congenital piriform fossa sinus tract (CPFST) that communicated with an intrathyroidal cyst. To demonstrate a case of CPFST presenting as an asymptomatic neck mass. Nearly all cases of CPFST present with infection or pain, making this case unique. Case report and review of the literature. CPFST with an associated cyst should be added to the differential diagnosis of asymptomatic cystic neck masses in infants, especially if the cyst is intrathyroidal by ultrasound. (orig.)

  16. A novel Noonan syndrome RAF1 mutation: lethal course in a preterm infant

    Directory of Open Access Journals (Sweden)

    Ana Ratola

    2015-06-01

    Full Text Available Noonan syndrome is a relatively common and heterogeneous genetic disorder, associated with congenital heart defect in about 50% of the cases. If the defect is not severe, life expectancy is normal. We report a case of Noonan syndrome in a preterm infant with hypertrophic cardiomyopathy and lethal outcome associated to acute respiratory distress syndrome caused by Adenovirus pneumonia. A novel mutation in the RAF1 gene was identified: c.782C>G (p.Pro261Arg in heterozygosity, not described previously in the literature. Consequently, the common clinical course in this mutation and its respective contribution to the early fatal outcome is unknown. No conclusion can be established regarding genotype/phenotype correlation.

  17. Visceral myopathy presenting as acute appendicitis and ogilvie syndrome.

    Science.gov (United States)

    Kharbuja, Punyaram; Thakur, Raghvendra; Suo, Jian

    2013-01-01

    Background. Visceral myopathy is rare pathological condition of gastrointestinal tract with uncertain clinical presentation and unknown etiology. It often presents with symptoms of chronic intestinal pseudoobstruction of colon. We report a case of visceral myopathy which presented to us as acute appendicitis and Ogilvie syndrome, and we managed it surgically. Method and Result. A case report of 20-year female clinically presented as acute appendicitis and we performed laparoscopic exploration which revealed inflamed appendix with grossly dilated ascending colon. We performed laparoscopic appendectomy and postoperatively managed the patients with IV fluids, antibiotics, neostigmine, and extended length rectal tube for enema and decompression. During postoperative period, she developed abdomen distension and peritonitis, and we ordered abdomen CT which revealed colon pseudo- obstruction. We performed right hemicolectomy with permanent ileostomy, and the histopathology reports of resected colon were visceral myopathy. Conclusion. Visceral myopathy is very rare group of disease and poorly understood condition that may present with chronic or acute intestinal pseudo-obstruction and often mimic other more common gastrointestinal disease. VM should be considered as differential diagnosis whenever the patient presents with acute appendicitis, uncharacteristic abdominal symptoms, recurrent attacks of abdominal distention, and pain with no radiological evidence of intestinal obstruction.

  18. The Role of Lung Ultrasound in Diagnosis of Respiratory Distress Syndrome in Newborn Infants.

    Science.gov (United States)

    Liu, Jing; Cao, Hai Ying; Wang, Hua-Wei; Kong, Xiang Yong

    2015-02-01

    Respiratory distress syndrome (RDS) is one of the most common causes of neonatal respiratory failure and mortality. The risk of developing RDS decreases with both increasing gestational age and birth weight. The aim of this study was to evaluate the value of lung ultrasound in the diagnosis of respiratory distress syndrome (RDS) in newborn infants. From March 2012 to May 2013, 100 newborn infants were divided into two groups: RDS group (50 cases) and control group (50 cases). According to the findings of chest x-ray, there were 10 cases of grade II RDS, 15 grade III cases, and 25 grade IV cases in RDS group. Lung ultrasound was performed at bedside by a single expert. The ultrasound indexes observed in this study included pleural line, A-line, B-line, lung consolidation, air bronchograms, bilateral white lung, interstitial syndrome, lung sliding, lung pulse etc. In all of the infants with RDS, lung ultrasound consistently showed generalized consolidation with air bronchograms, bilateral white lung or alveolar-interstitial syndrome, pleural line abnormalities, A-line disappearance, pleural effusion, lung pulse, etc. The simultaneous demonstration of lung consolidation, pleural line abnormalities and bilateral white lung, or lung consolidation, pleural line abnormalities and A-line disappearance co-exists with a sensitivity and specificity of 100%. Besides, the sensitivity was 80% and specificity 100% of lung pulse for the diagnosis of neonatal RDS. This study indicates that using an ultrasound to diagnose neonatal RDS is accurate and reliable too. A lung ultrasound has many advantages over other techniques. Ultrasound is non-ionizing, low-cost, easy to operate, and can be performed at bedside, making this technique ideal for use in NICU.

  19. Heart rate variability in infants with West syndrome

    DEFF Research Database (Denmark)

    Møller, Michelle Mai; Høgenhaven, Hans; Uldall, Peter

    2015-01-01

    with WS the heart rate variability (HRV) was investigated by examining time- and frequency-domain parameters of HRV at the time of the diagnosis of hypsarrhythmia and compared to 22 age-matched controls. For the WS patients the same dataset was obtained and compared again at the end of the study period......PURPOSE: West syndrome (WS) is a severe age-related acute epileptic encephalopathy of infancy characterized by infantile spasms, hypsarrhythmia and psychomotor delay. The aim of this study was to investigate if patients with WS had an altered autonomic output to the heart. METHODS: In 23 patients......-Whitney's U-Test) in the awake state, indicating an abnormal autonomic output to the heart. Comparing the initial to the final examination demonstrated a significant increase in the HRV parameters SDNN (31.3ms) and total power (757ms(2); p=0.001 and p=0.013, Wilcoxon Signed Ranked Test). In addition...

  20. Rub epilepsy in an infant with Turner syndrome.

    Science.gov (United States)

    Magara, Shin-Ichi; Kawashima, Hideshi; Kobayashi, Yu; Akasaka, Noriyuki; Yamazaki, Sawako; Tohyama, Jun

    2015-08-01

    We report a case of infantile refractory epilepsy associated with Turner syndrome (TS), showing very frequent, focal clonic seizures of the left upper extremity. Characteristically, in addition to spontaneous fits, her seizure was inducible by rubbing her left hand and forearm for a few seconds. Accordingly, she was diagnosed with a rare form of reflex epilepsy, "rub epilepsy". Neuroradiological investigation indicated the existence of cortical abnormalities, such as focal cortical dysplasia of the right parietal lobe. Patients with TS are reported to have neuroanatomical abnormalities, especially of the parietal lobe. Thus, our case may imply a causal relationship between potential cortical hyperexcitability of the parietal lobe and epilepsy in TS. This is the first reported infantile case of rub epilepsy, and more generally, reflex epilepsy associated with TS. Copyright © 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  1. Pediatric Tourette Syndrome: A Tic Disorder with a Tricky Presentation

    Directory of Open Access Journals (Sweden)

    Qurratul Warsi

    2017-03-01

    Full Text Available Dysphagia is a condition in which disruption of the swallowing process interferes with a patient’s ability to eat. This may result in coughing or choking while swallowing, food sticking in the throat, or globus sensation. Eosinophilic esophagitis (EoE is a chronic immune-mediated disease with a varied clinical spectrum of symptoms including dysphagia. Tourette syndrome (TS is an inherited neurological disorder that manifests itself as a series of motor and vocal tics and may include oropharyngeal dysphagia. Dysphagia as a result of TS generally affects female, elderly patients and is not reported in children. While the pathophysiology is relatively unknown, experts believe TS is closely linked to damage or abnormalities in the basal ganglia of the brain. We present this interesting pediatric case of dysphagia due to EoE, which had been previously thought to be related to the patient’s TS.

  2. Primary antiphospholipid antibody syndrome presenting with encephalopathy, psychosis and seizures.

    Science.gov (United States)

    Taipa, R; Santos, E

    2011-11-01

    Antiphospholipid syndrome (APS) is an autoimmune disease characterized by recurrent thrombotic events, miscarriages and thrombocytopenia with persistently positive antiphospholipid antibodies.( 1,2 ) APS may be isolated (primary APS) or associated to a connective tissue disease, most often systemic lupus erythematosus (SLE).( 1,2 ) APS usually affects young patients before the fifth decade( 3 ) with stroke being the commonest neurological manifestation.( 4 ) Various other neurological manifestations are being recognized in patients with APS including migraine, epilepsy, multi-infarct dementia and chorea.( 2 ) The pathological process underlying the neurological manifestations remains obscure.( 1,2 ) Herein we report a case of primary APS presenting with a group of unusual neurological manifestations in a 68-year-old woman.

  3. A rare presentation of Klippel-Trenaunay syndrome

    Directory of Open Access Journals (Sweden)

    Tanweer Karim

    2014-01-01

    Full Text Available The Klippel-Trenaunay syndrome (KTS is a congenital disorder characterized by capillary malformation, varicosities and bony and soft tissue hypertrophy. This disease has several morbidities like bleeding, deep venous thrombosis, embolic complications and in some cases enlargement of limb that may require amputation. Vascular malformations are segmented and never cross midline. However, we came across a case, a 45-year-old male, who presented with varicosity of veins and deformity of left lower limb besides cavernous hemangiomas (port-wine stains scattered all over his face, chest, back, gluteal region, groin and legs since birth. Multiple paravertebral soft tissue masses and bladder hypertrophy were also noted due to involving neurofibromatosis. Simultaneous occurrence of KTS and neurofibromatosis is rarely seen in clinical practice.

  4. Sarcoidosis Presenting as Löfgren’s Syndrome with Myopathy

    Directory of Open Access Journals (Sweden)

    Şenol Kobak

    2013-01-01

    Full Text Available A 34-year-old female patient, who had proximal muscle weakness for 8 months, presented with erythema nodosum lesions on the pretibial region in addition to pain, swelling, and movement restriction in both ankles for the last one month. Thoracic CT demonstrated hilar and mediastinal lymphadenopathy. She underwent mediastinoscopic lymph node biopsy; biopsy result was consistent with noncaseating granuloma. Serum angiotensin converting enzyme level and muscle enzymes have been elevated. Muscular MRI and EMG findings were consistent with myositis. Muscle biopsy was done, and myopathy was found. The patient was diagnosed with sarcoidosis, Löfgren's syndrome, and sarcoid myopathy. The patient displayed remarkable clinical and radiological regression after 6-month corticosteroid and MTX therapy.

  5. Detectable IL-8 and IL-10 in bronchoalveolar lavage fluid from preterm infants ventilated for respiratory distress syndrome.

    Science.gov (United States)

    Beresford, Michael W; Shaw, Nigel J

    2002-12-01

    Pro-inflammatory cytokines such as IL-8 play an important role in the inflammatory response to neonatal airway injury. Difficulty in detecting counter-regulatory cytokines such as IL-10 in lavage fluid from preterm infants led to the suggestion that its deficit may be a factor in the etiology of chronic lung disease of prematurity (CLD). The aim of the study was to determine IL-8 and IL-10 concentrations in lavage fluid from preterm infants ventilated for respiratory distress syndrome. Fifty infants Infants dying or developing CLD had a significant early rise in both cytokine concentrations. Compared with infants developing CLD, lavage IL-10 concentrations were significantly higher on d 1 among those not developing CLD but significantly lower on d 4 (p infants and its concentrations rise significantly over the first five postnatal days. In the same samples, IL-8 concentration also rises and this increase precedes the rise in IL-10.

  6. Clinical Presentation of Klinefelter's Syndrome: Differences According to Age

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    Néstor Pacenza

    2012-01-01

    Full Text Available The aim of the study was to establish the characteristics of presentation of 94 patients with Kinelfelter's syndrome (KS referred to the endocrinologist at different ages. The diagnosis of KS was more frequent in the age group between 11 and 20 years (46.8%. Most of the patients (83.7% showed the classic 47,XXY karyotype and 7.1% showed a 47,XXY/46,XY mosaicism. Half of the patients younger than 18 years presented mild neurodevelopmental disorders. The most frequent clinical findings were cryptorchidism in prepubertal patients, and small testes, cryptorchidism, and gynecomastia in pubertal patients. FSH, LH, AMH, and inhibin B levels were normal in prepubertal patients and became abnormal from midpuberty. Most adults were referred for small testes, infertility, and gynecomastia; 43.6% had sexual dysfunction. Testosterone levels were low in 45%. Mean stature was above the 50th percentile, and 62.5% had BMI ≥25.0 kg/m2. In conclusion, the diagnosis of Klinefelter syndrome seems to be made earlier nowadays probably because pediatricians are more aware that boys and adolescents with neuro-developmental disorders and cryptorchidism are at increased risk. The increasing use of prenatal diagnosis has also decreased the mean age at diagnosis and allowed to get insight into the evolution of previously undiagnosed cases, which probably represent the mildest forms. In adults average height and weight are slightly higher than those in the normal population. Bone mineral density is mildly affected, more at the spine than at the femoral neck level, in less than half of cases.

  7. Using a pacifier to decrease sudden infant death syndrome: an emergency department educational intervention.

    Science.gov (United States)

    Walsh, Paul; Vieth, Teri; Rodriguez, Carolina; Lona, Nicole; Molina, Rogelio; Habebo, Emnet; Caldera, Enrique; Garcia, Cynthia; Veazey, Gregory

    2014-01-01

    Background. Pacifier use decreases the risk of sudden infant death syndrome (SIDS). An emergency department (ED) visit may provide an opportunistic 'teachable moment' for parents. Objectives. To test the hypotheses (1) that caregivers were less familiar with the role of pacifiers in sudden infant death (SIDS) prevention than other recommendations, and (2) that an ED educational intervention would increase pacifier use in infants younger than six months, and (3) that otitis media would not occur more frequently in pacifier users. Methods. We did an intervention-group-only longitudinal study in a county hospital ED. We measured pacifier use infants and baseline knowledge of SIDs prevention recommendations in caregivers. We followed up three months later to determine pacifier use, and 12 months later to determine episodes of otitis media. Results. We analyzed data for 780 infants. Parents knew of advice against co-sleeping in 469/780 (60%), smoking in 660/776 (85%), and prone sleeping in 613/780 (79%). Only 268/777 (35%) knew the recommendation to offer a pacifier at bedtime. At enrollment 449/780 (58%) did not use a pacifier. Of 210/338 infants aged less than 6 months followed up 41/112 (37%) non-users had started using a pacifier at bedtime (NNT 3). Over the same period, 37/98 (38%) users had discontinued their pacifier. Otitis media did not differ between users and non-users at 12 months. Conclusion. Caregiver knowledge of the role of pacifiers in SIDS prevention was less than for other recommendations. Our educational intervention appeared to increase pacifier use. Pacifier use was not associated with increased otitis media.

  8. Using a pacifier to decrease sudden infant death syndrome: an emergency department educational intervention

    Directory of Open Access Journals (Sweden)

    Paul Walsh

    2014-03-01

    Full Text Available Background. Pacifier use decreases the risk of sudden infant death syndrome (SIDS. An emergency department (ED visit may provide an opportunistic ‘teachable moment’ for parents.Objectives. To test the hypotheses (1 that caregivers were less familiar with the role of pacifiers in sudden infant death (SIDS prevention than other recommendations, and (2 that an ED educational intervention would increase pacifier use in infants younger than six months, and (3 that otitis media would not occur more frequently in pacifier users.Methods. We did an intervention-group-only longitudinal study in a county hospital ED. We measured pacifier use infants and baseline knowledge of SIDs prevention recommendations in caregivers. We followed up three months later to determine pacifier use, and 12 months later to determine episodes of otitis media.Results. We analyzed data for 780 infants. Parents knew of advice against co-sleeping in 469/780 (60%, smoking in 660/776 (85%, and prone sleeping in 613/780 (79%. Only 268/777 (35% knew the recommendation to offer a pacifier at bedtime. At enrollment 449/780 (58% did not use a pacifier. Of 210/338 infants aged less than 6 months followed up 41/112 (37% non-users had started using a pacifier at bedtime (NNT 3. Over the same period, 37/98 (38% users had discontinued their pacifier. Otitis media did not differ between users and non-users at 12 months.Conclusion. Caregiver knowledge of the role of pacifiers in SIDS prevention was less than for other recommendations. Our educational intervention appeared to increase pacifier use. Pacifier use was not associated with increased otitis media.

  9. Efficacy of INSURE during nasal CPAP in preterm infants with respiratory distress syndrome.

    Science.gov (United States)

    Leone, F; Trevisanuto, D; Cavallin, F; Parotto, M; Zanardo, V

    2013-04-01

    INSURE (INtubation, SURfactant, Extubation) is a proven complement of nasal CPAP (nCPAP) for respiratory distress syndrome (RDS) treatment of preterm infants. Early administration is characterized by greater success. We aimed to determine the efficacy and failure or other respiratory outcomes of INSURE administration during nasal continous positive airway pressure (nCPAP) treatment of RDS. Among 824 premature infants neonatal intensive care unit (NICU) admitted at Padua University Hospital during 2007-2009, 209 (25.4%) were managed by surfactant replacement (200 mg/kg, Curosurf®) if required >45% oxygen ("rescue" treatment), including 42 (20.1%) during nCPAP. Each premature infant treated with INSURE during nasal CPAP was compared to 2 consecutive control infants treated with surfactant during mechanical ventilation, matched for antenatal steroids, delivery route, gestational age, and sex. Infants with RDS, treated with nCPAP and INSURE-complement (N.=25), were comparable in Apgar score, need of PPV at birth, birth weight, pre-surfactant FiO2 and timing of surfactant replacement to controls. However, nCPAP and INSURE-complement was superior in terms both of oxygenation, evaluated as post-treatment FiO2 (Median, [IQR], 26 [21-40] vs. 21 [21-29]; P=0.03) and (a-A) pO2 (0.48 [0.45-0.60] vs. 0.58 [0.53-0.72]; P=0.03). The improved oxygenation was sustained over the following days. In addition, premature infants treated with nCPAP and INSURE-complement developed less respiratory co-morbidities, including pneumothorax, borncopulmonary disease (BPD), and BPD and death (P=0.04). INSURE-complement of nasal CPAP has a superior efficacy in terms of oxygenation improvement, maintenance of optimal oxygenation, and reduction of respiratory comorbidities respect to "rescue" surfactant administration during mechanical ventilation.

  10. Decreased orexin (hypocretin) immunoreactivity in the hypothalamus and pontine nuclei in sudden infant death syndrome.

    Science.gov (United States)

    Hunt, Nicholas J; Waters, Karen A; Rodriguez, Michael L; Machaalani, Rita

    2015-08-01

    Infants at risk of sudden infant death syndrome (SIDS) have been shown to have dysfunctional sleep and poor arousal thresholds. In animal studies, both these attributes have been linked to impaired signalling of the neuropeptide orexin. This study examined the immunoreactivity of orexin (OxA and OxB) in the tuberal hypothalamus (n = 27) and the pons (n = 15) of infants (1-10 months) who died from SIDS compared to age-matched non-SIDS infants. The percentage of orexin immunoreactive neurons and the total number of neurons were quantified in the dorsomedial, perifornical and lateral hypothalamus at three levels of the tuberal hypothalamus. In the pons, the area of orexin immunoreactive fibres were quantified in the locus coeruleus (LC), dorsal raphe (DR), laterodorsal tegmental (LDT), medial parabrachial, dorsal tegmental (DTg) and pontine nuclei (Pn) using automated methods. OxA and OxB were co-expressed in all hypothalamic and pontine nuclei examined. In SIDS infants, orexin immunoreactivity was decreased by up to 21 % within each of the three levels of the hypothalamus compared to non-SIDS (p ≤ 0.050). In the pons, a 40-50 % decrease in OxA occurred in the all pontine nuclei, while a similar decrease in OxB immunoreactivity was observed in the LC, LDT, DTg and Pn (p ≤ 0.025). No correlations were found between the decreased orexin immunoreactivity and previously identified risk factors for SIDS, including prone sleeping position and cigarette smoke exposure. This finding of reduced orexin immunoreactivity in SIDS infants may be associated with sleep dysfunction and impaired arousal.

  11. Herpes Zoster Myelitis Presented with Brown-Sequard Syndrome

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    Ferah Kızılay

    2011-12-01

    Full Text Available Brown Séquard syndrome, is caused by a lesion effecting one half of the spinal cord in a segment or more than one segments. Below the lesion level, there is loss of deep sensory and motor functions on the ipsilateral side, whereas loss of pain and temparature sensations are present on the contralateral side. Most common causes are trauma, radiation necrosis and spinal metastases. Here, we aimed to present a case of herpes Zoster virus myelitis, that was presented as Brown Séquard sydrome, which is very rare. A 55-year-old male was presented with acute paresia of the right arm and leg. Three days after the start of these complaints, painful, itchy and vesicular blisters appeared on the extensor surface of the right arm. On neurological examination, there were 4+/5 paresis on the right arm and leg, loss of proprioception on the right upper and lower extremities, and loss of temparature sensation on the left upper and lower extremities. Servical MRI showed an expansile hyperintense lesion which was located on C5-C6 level within spinal cord, on T2-weighted images. Lesion diameter was 3 centimeters. Skin lesions showed regression within 15 days, whereas motor deficits remained stable. After 4 months, MRI showed marked regression of the spinal cord lesion. We aimed to share the findings of this HZV myelitis case, which is very rare and its MRI findings may easily misinterpreted as a spinal mass lesion

  12. Unusual presentation of prune belly syndrome: a case report

    OpenAIRE

    Demisse, Abayneh Girma; Berhanu, Ashenafi; Tadesse, Temesgen

    2017-01-01

    Background Prune belly syndrome is a rare congenital malformation of unknown etiology, with the following triad of findings: abdominal muscle wall weakness, undescended testes, and urinary tract abnormalities. In most cases, detection of prune belly syndrome occurs during neonatal or infancy period. In this case report, we describe a 12-year-old boy from Ethiopia with the triad of findings of prune belly syndrome along with skeletal malformations. We are unaware of any previous report of prun...

  13. Neonatal respiratory distress syndrome

    Science.gov (United States)

    Hyaline membrane disease (HMD); Infant respiratory distress syndrome; Respiratory distress syndrome in infants; RDS - infants ... after that. Some infants with severe respiratory distress syndrome will die. This most often occurs between days ...

  14. Dummy (pacifier) use and sudden infant death syndrome: potential advantages and disadvantages.

    Science.gov (United States)

    Horne, Rosemary S C; Hauck, Fern R; Moon, Rachel Y; L'hoir, Monique P; Blair, Peter S

    2014-03-01

    The large decline in deaths due to the sudden infant death syndrome (SIDS) in the last 20 years in many countries is largely due to risk-reduction advice resulting from observational studies that examined the relationship between infant care practices and SIDS. Most of this advice remains largely uncontroversial and educators and researchers in this field are in agreement as to the specific recommendations that should be given to parents and health professionals. However, advice surrounding the apparent protective effect of dummies (also known as pacifiers) has been controversial. Several systematic reviews have demonstrated a strong association between the lack of a pacifier being used by the infant for the final sleep and SIDS, but it is not clear how pacifiers confer protection or if this is a marker for something as yet unmeasured. The Epidemiology and Physiology Working Groups of the International Society for the Study and Prevention of Perinatal and Infant Death (ISPID) are comprised of leading SIDS researchers with an objective to provide evidence-based position statements surrounding the factors associated with SIDS (http://www.ispid.org/) and risk-reduction strategies. The evidence, discussion and conclusions from these working groups regarding dummies (pacifiers) are described below to help inform this debate and describe the future evidence required so that we might find a common recommendation about dummies (pacifiers) and SIDS. © 2014 The Authors. Journal of Paediatrics and Child Health © 2014 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  15. High aspartate aminotransferase level predicts poor neurodevelopmental outcome in infants with meconium aspiration syndrome.

    Science.gov (United States)

    Chen, I-Lun; Ou-Yang, Mei-Chen; Chen, Feng-Shun; Chung, Mei-Yung; Chen, Chih-Cheng; Huang, Hsin-Chun

    2014-11-01

    The aim of our study is to clarify the perinatal predictive factors of meconium aspiration syndrome (MAS) with neurodevelopmental delay (ND) in infants. In this retrospective study, data were collected from the infants born between 1990 and 2008. They all had primary diagnosis of MAS. Multivariable analyzed perinatal predictive factors of MAS with ND. The developmental status of these infants was followed at least 2 years with the Wechsler Intelligence Scale for Children. A total of 114 surviving babies met the criteria of MAS. Six babies were defined as ND group. Lower 5-minute Apgar score and diastolic blood pressure were significantly related to the ND group. Elevated asparatate aminotransferase (AST), nucleated red blood cells, and white blood cells at the time of admission were significantly high in ND group. Furthermore, AST had area under the receiver operating characteristic curve of 0.879, (95% confidence interval: 0.801, 0.934), p < 0.0001. At 96 mg/dL, it had 83.33% sensitivity, 80.81% specificity, and negative predictive value of 98.8. Multivariable logistic regression analysis revealed AST was the only significant predictive factor for MAS with ND. Early intervention should be recommended in infants having MAS with high AST level at birth for improving their neurodevelopmental outcomes. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  16. Longitudinal predictors of early language in infants with Down syndrome: A preliminary study.

    Science.gov (United States)

    Mason-Apps, Emily; Stojanovik, Vesna; Houston-Price, Carmel; Buckley, Sue

    2018-01-09

    Children with Down syndrome (DS) typically have marked delays in language development relative to their general cognitive development, with particular difficulties in expressive compared to receptive language. Although early social communication skills, including gestures and joint attention, have been shown to be related to later language outcomes in DS, knowledge is limited as to whether these factors exclusively predict outcomes, or whether other factors (e.g. perceptual and non-verbal skills) are involved. This study addressed this question. Longitudinal data for a group of infants with DS (n = 14) and a group of typically-developing (TD) infants (n = 35) were collected on measures that have been shown to predict language in TD infants and/or those with developmental delays. These included: non-verbal mental ability, speech segmentation skills, and early social communication skills (initiating and responding to joint attention, initiating behavioural requests). Linear regression analyses showed that speech segmentation and initiating joint attention were the strongest predictors of later language in the TD group, whereas non-verbal mental ability and responding to joint attention were the strongest predictors of later language for infants with DS. Speech segmentation ability may not determine language outcomes in DS, and language acquisition may be more constrained by social communication and general cognitive skills. Copyright © 2017. Published by Elsevier Ltd.

  17. Laparoscopic Nissen fundoplication in infants with hypoplastic left heart syndrome.

    Science.gov (United States)

    Craig, Brian T; Rellinger, Eric J; Mettler, Bret A; Watkins, Scott; Donahue, Brian S; Chung, Dai H

    2016-01-01

    Patients with hypoplastic left heart syndrome (HLHS) experience a higher risk for complications from gastroesophageal reflux, prompting frequent need for fundoplication. Patients between stage I and II palliation ("interstage") are at particularly high operative risk because of the parallel nature of their pulmonary and systemic blood flow. Laparoscopic approach for fundoplication is common for pediatric patients. However, its safety in interstage HLHS is relatively unknown. We examined the perioperative physiologic burden of a laparoscopic fundoplication in HLHS patients. All patients who underwent open or laparoscopic fundoplication during the interstage period at our institution since 2006 were reviewed. Perioperative physiologic data, echocardiographic findings, survival, and complications were collected from the anesthetic record and patient chart. Nineteen patients with HLHS had laparoscopic fundoplication, 13 (68%) during the interstage period, compared to 64 performed by the open approach. Ten (77%) of 13 interstage patients had perioperative hemodynamic instability. Incidence of instability between open and laparoscopic groups was not different. One laparoscopic patient required ECMO support for shunt thrombosis. Despite a high incidence of hemodynamic instability, overall outcomes are consistent with those reported in the literature for this high-risk patient population. Laparoscopic approach for fundoplication during the interstage period appears to be a relatively safe option for these patients. Copyright © 2016 Elsevier Inc. All rights reserved.

  18. Advanced Prostate Cancer Presenting as Hemolytic Uremic Syndrome

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    R. Ramos

    2013-01-01

    Full Text Available Introduction. Hemolytic uremic syndrome (HUS is characterized by endothelial dysfunction, consumption thrombocytopenia, microangiopathic hemolytic anemia, and acute renal failure. HUS generally has a dismal prognosis, except when associated with gastroenteritis caused by verotoxin-producing bacteria. Cancer associated HUS is uncommon, and there are only scarce reports on prostate cancer presenting with HUS. Case Presentation. A 72-year-old man presented to the emergency department with oliguria, hematuria, and hematemesis. Clinical evaluation revealed acute renal failure, hemolysis, normal blood-clotting studies, and prostate-specific antigen value of 1000 ng/mL. The patient was started on hemodialysis, ultrafiltration with plasma exchange, and androgen blockade with bicalutamide and completely recovered from HUS. The authors review the 14 published cases on this association. Conclusion. The association of HUS and prostate cancer occurs more frequently in patients with high-grade, clinically advanced prostate cancer. When readily recognized and appropriately treated, HUS does not seem to worsen prognosis in prostate cancer patients.

  19. Hemophilia presenting as compartment syndrome in the arm following venipuncture. A case report and review of the literature.

    Science.gov (United States)

    Nixon, R G; Brindley, G W

    1989-07-01

    A three-month-old male infant with undiagnosed hemophilia presented with fever and irritability. During the diagnostic evaluation a venipuncture in the right antecubital fossa led to hemorrhage and a compartment syndrome in the brachium. Differential diagnosis included osteomyelitis and septic arthritis but a 99technetium bone scan revealed only delayed washout of radioactive material from the right brachium without increased uptake. Despite elevated pressures in the muscle compartments of the right arm, surgical decompression was delayed until a complete blood coagulation profile was obtained. After replacement of deficient blood products, the compartment syndrome resolved without surgical decompression. Defective coagulation leading to hemorrhage into the muscle compartments of the arm resulted in a significant elevation of compartmental pressure. The unusual clinical presentation of the patient, as well as a lack of a positive family history, delayed the diagnosis of hemophilia and the subsequent replacement therapy.

  20. Psychomotor development in infants with Prader-Willi syndrome and associations with sleep-related breathing disorders.

    Science.gov (United States)

    Festen, Dederieke A M; Wevers, Maaike; de Weerd, Al W; van den Bossche, Renilde A S; Duivenvoorden, Hugo J; Otten, Barto J; Wit, Jan Maarten; Hokken-Koelega, Anita C S

    2007-08-01

    Prader-Willi syndrome (PWS) is a neurogenetic disorder with hypotonia, psychomotor delay, obesity, short stature, and sleep-related breathing disorders. The aim of this study was to evaluate the association between psychomotor development and sleep-related breathing disorders in PWS infants. Bayley Scales of Infant Development were performed in 22 PWS infants, with a median (interquartile range, IQR) age of 1.8 (1.1-3.4) y, and a body mass index SD score (BMISDS) of -0.5 (-1.3 to 1.6). We evaluated psychomotor development in relation to results of polysomnography. Median (IQR) mental and motor development was 73.1% (64.3-79.6%) and 55.2% (46.5-63.1%) of normal children, respectively. All infants had sleep-related breathing disorders, mostly of central origin. The apnea hypopnea index was not associated with psychomotor development. Only four infants had obstructive sleep apnea syndrome (OSAS). They had a significantly delayed mental development of 65.5% (60.0-70.3%) of normal. They had a median BMISDS of 1.4 (0.1-1.6), which tended to be higher than in those without OSAS. Our data indicate that psychomotor development in PWS infants is not related to central sleep-related breathing disorders, but infants with OSAS have more severely delayed mental development, suggesting that PWS infants should be screened for OSAS.

  1. Concomitant presentation of carpal tunnel syndrome and trigger finger

    Directory of Open Access Journals (Sweden)

    Wollstein Ronit A

    2009-08-01

    Full Text Available Abstract Background Carpal tunnel syndrome (CTS and trigger finger (TF are common conditions that may occur in the same patient. The etiology of most cases is unknown. The purpose of this study was to evaluate the rate of concomitant occurrence of these two conditions at presentation and to compare the concomitant occurrence in normal and diabetic patients. Methods One-hundred and eight consecutive subjects presenting to our hand clinic with CTS and/or TF were evaluated. The existence of both of these conditions was documented through a standard history and physical examination. The definition of trigger finger was determined by tenderness over the A1 pulley, catching, clicking or locking. CTS was defined in the presence of at least two of the following: numbness and tingling in a median nerve distribution, motor and sensory nerve loss (median nerve, a positive Tinel's or Phalen's test and positive electrophysiologic studies. Results The average age of the participants was 62.2 ± 13.6 years. Sixty-seven patients presented with symptoms and signs of CTS (62%, 41 (38% subjects with signs and symptoms of TF. Following further evaluation, 66 patients (61% had evidence of concomitant CTS and TF. Fifty-seven patients (53% of all study patients had diabetes. The rate of subjects with diabetes was similar among the groups (p = 0.8, Chi-square test. Conclusion CTS and TF commonly occur together at presentation though the symptoms of one condition will be more prominent. Our results support a common local mechanism that may be unrelated to the presence of diabetes. We recommend evaluation for both conditions at the time of presentation.

  2. [Meningitis due to Bacillus cereus in an infant with Reye syndrome].

    Science.gov (United States)

    Ferroni, A; Odièvre, M H; Abachin, E; Révy, P; Casanova, J L; Saudubray, J M; Berche, P; Nassif, X

    1998-10-01

    We report the case of a 2.5-month-old infant with Bacillus cereus meningitis who was initially admitted for Reye syndrome. Gram positive bacteria was isolated in CSF and shown to be located inside the polymorphonuclears. This pathogen was further identified by sequencing of the 16S RNA. Early administration of imipenem in association with amikacin resulted in a rapid recovery. No obvious immune defect or invasive procedure could be assessed. Although Bacillus cereus is mainly associated with contamination, repeated isolations of this bacteria may be due to true infection.

  3. Epigenetic variation in the mu-opioid receptor gene in infants with neonatal abstinence syndrome.

    Science.gov (United States)

    Wachman, Elisha M; Hayes, Marie J; Lester, Barry M; Terrin, Norma; Brown, Mark S; Nielsen, David A; Davis, Jonathan M

    2014-09-01

    Neonatal abstinence syndrome (NAS) from in utero opioid exposure is highly variable with genetic factors appearing to play an important role. Epigenetic changes in cytosine:guanine (CpG) dinucleotide methylation can occur after drug exposure and may help to explain NAS variability. We correlated DNA methylation levels in the mu-opioid receptor (OPRM1) promoter in opioid-exposed infants with NAS outcomes. DNA samples from cord blood or saliva were analyzed for 86 infants who were being treated for NAS according to institutional protocol. Methylation levels at 16 OPRM1 CpG sites were determined and correlated with NAS outcome measures, including need for treatment, treatment with ≥ 2 medications, and length of hospital stay. We adjusted for covariates and multiple genetic testing. Sixty-five percent of infants required treatment for NAS, and 24% required ≥ 2 medications. Hypermethylation of the OPRM1 promoter was measured at the -10 CpG in treated vs nontreated infants (adjusted difference δ = 3.2% [95% CI, 0.3-6.0%], P = .03; nonsignificant after multiple testing correction). There was hypermethylation at the -14 (δ = 4.9% [95% CI, 1.8%-8.1%], P = .003), -10 (δ = 5.0% [95% CI, 2.3-7.7%], P = .0005), and +84 (δ = 3.5% [95% CI, 0.6-6.4], P = .02) CpG sites in infants requiring ≥ 2 medications, which remained significant for -14 and -10 after multiple testing correction. Increased methylation within the OPRM1 promoter is associated with worse NAS outcomes, consistent with gene silencing. Copyright © 2014 Elsevier Inc. All rights reserved.

  4. N-BiPAP treatment in infants with respiratory distress syndrome: A population study.

    Science.gov (United States)

    Solevåg, Anne Lee; Kann, Inger Cathrine

    2015-10-01

    Since November 1st 2008, our Norwegian neonatal intensive care unit has used nasal biphasic positive airway pressure (n-BiPAP) instead of invasive mechanical ventilation as first-line treatment after nasal continuous positive airway pressure (n-CPAP) failure in infants with respiratory distress syndrome (RDS). To assess utility of a national patient register to compare outcomes of infants in our unit before and after November 1st 2008 as well as to hospitals that did not utilize n-BiPAP during the observation period. A retrospective study, using a national patient register and a difference-in-difference (DID) statistical approach, adjusting for confounders. Infants with RDS admitted to hospital 2002-2010. We compared our unit before and after November 1st 2008 and to other hospitals with regards to morbidity, mortality, and number of hospital days (NHD). Infants with RDS in our unit had a significantly lower risk of bronchopulmonary dysplasia (BPD) (odds ratio (OR) 0.59, p<0.05), retinopathy of prematurity (ROP) (OR 0.57, p<0.05), and intraventricular hemorrhage (IVH) (OR 0.37, p<0.001); as well as the combined outcome of periventricular leukomalacia (PVL), necrotizing enterocolitis (NEC), ROP, IVH, and/or BPD (OR 0.53, p<0.05) after November 1st 2008 and compared to other hospitals. PVL, NEC, and mortality did not change. NHD was reduced by 8. Increasing use of n-BiPAP was associated with reduced morbidity and NHD in infants with RDS. Using a patient register and DID analyses may be a health economic and ethically sound way of generating hypotheses and knowledge about disease and treatment. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  5. Effects of milk flow on the physiological and behavioural responses to feeding in an infant with hypoplastic left heart syndrome.

    Science.gov (United States)

    Pados, Britt F; Thoyre, Suzanne M; Estrem, Hayley H; Park, Jinhee; Knafl, George J; Nix, Brant

    2017-01-01

    Infants with hypoplastic left heart syndrome often experience difficulty with oral feeding, which contributes to growth failure, morbidity, and mortality. In response to feeding difficulty, clinicians often change the bottle nipple, and thus milk flow rate. Slow-flow nipples have been found to reduce the stress of feeding in other fragile infants, but no research has evaluated the responses of infants with hypoplastic left heart syndrome to alterations in milk flow. The purpose of this study was to evaluate the physiological and behavioural responses of an infant with hypoplastic left heart syndrome to bottle feeding with either a slow-flow (Dr. Brown's Preemie) or a standard-flow (Dr. Brown's Level 2) nipple. A single infant was studied for three feedings: two slow-flow and one standard-flow. Oral feeding, whether with a slow-flow or a standard-flow nipple, was distressing for this infant. During slow-flow feeding, she experienced more coughing events, whereas during standard-flow she experienced more gagging. Disengagement and compelling disorganisation were most common during feeding 3, that is slow-flow, which occurred 2 days after surgical placement of a gastrostomy tube. Clinically significant changes in heart rate, oxygen saturation, and respiratory rate were seen during all feedings. Heart rate was higher during standard-flow and respiratory rate was higher during slow-flow. Further research is needed to examine the responses of infants with hypoplastic left heart syndrome to oral feeding and to identify strategies that will support these fragile infants as they learn to feed. Future research should evaluate an even slower-flow nipple along with additional supportive feeding strategies.

  6. Delayed presentation of turner syndrome: Challenge to optimal management

    Directory of Open Access Journals (Sweden)

    Uma Kaimal Saikia

    2017-01-01

    Full Text Available Background: Turner syndrome (TS is a chromosomal disorder associated with dysmorphic features and comorbidities, with recent trends focusing on early diagnosis for adequate management. Aim: The aim is to study the age and mode of presentation of TS, associated comorbidities and look for any correlation with the genotype. Material and Methods: This was a retrospective analysis of girls with TS attending the endocrinology clinic of a tertiary care center. Their age, mode of presentation, and clinical features were noted. All participants underwent ear examination, echocardiography, and ultrasonography of the abdomen. Laboratory investigations included serum T4, thyroid-stimulating hormone, thyroid peroxidase antibodies, follicle-stimulating hormone, fasting, and 2-h plasma glucose after 75 g glucose load and a karyotype. Simple descriptive statistical methods were used. Results: Seventeen cases of TS were seen with a median age of presentation of 18 years (range 14–42 years. Primary amenorrhea was the most common reason for seeking medical attention (76.4% followed by short stature and diabetes mellitus (11.8% each. The mean height at presentation was 137.5 ± 5.4 cm. Monosomy of X chromosome (45,X was the most common karyotype obtained in 58.8% of the patients, followed by 45,X/46, XX in 17.6%, 45,X/46X,i(X(q10 in 11.8%, and 45,X/47,XXX and 46X,delXp11.2 in 5.9% patients each. Bicuspid aortic valve was seen in two patients having a 45,X/46,XX karyotype. Conclusion: Primary amenorrhea is the most common presenting feature in girls with TS leading to a delayed age of presentation. Short stature and dysmorphic features are often overlooked in infancy and childhood due to socioeconomic factors. This late age of presentation is a cause of concern as early detection and management is important for height outcomes, bone health, and psychosocial support. Assessment of comorbidities becomes important in this setting.

  7. Sudden infant death syndrome and cardiac channelopathies: from mechanisms to prevention of avoidable tragedies

    Directory of Open Access Journals (Sweden)

    Peter J. Schwartz

    2011-12-01

    Full Text Available The sudden infant death syndrome (SIDS, with the load of mystery surrounding its causes and with the devastating impact on the affected families, remains the greatest contributor to post-neonatal mortality during the first year of life. Following a succinct review of the non-cardiac genetic factors, which have been associated with SIDS, we focus on the cardiac hypothesis for SIDS and specifically on those diseases produced by cardiac ion channel mutations, the so-called channelopathies. Special attention is devoted to the fact that these causes of SIDS, and especially the long QT syndrome, are preventable if diagnosed in time. This highlights the importance of neonatal ECG screening and carries a number of practical implications, including medico-legal considerations.

  8. [Multiorgan failure associated with hyperthermia in an infant with Prader-Willi syndrome. case report].

    Science.gov (United States)

    Donoso, Alejandro; Arriagada, Daniela; Campbell, Stephanie; Cruces, Pablo

    2013-10-01

    Heat stroke is a medical emergency characterized primarily by an elevated core temperature associated with a systemic inflammatory response, which causes multiple organ dysfunction in which encephalopathy predominates. If it is not early treated has high mortality. The Prader-Willi syndrome is a multisystem genetic disorder secondary to an abnormality in long arm chromosome 15 (15q11-q13), characterized by neonatal central hypotonia, developmental delay, hypogonadism, hyperphagia and obesity. These patients are susceptible to developing thermoregulatory problems. We report the case of a 5-month-old infant, in whom a diagnosis of Prader-Willi syndrome was established in the course of a febrile episode without known focus, who developed multiorganic failure and rhabdomyolysis secondary to hyperthermia.

  9. Presentation matters: Buffers, packaging, and delivery devices for new, oral enteric vaccines for infants.

    Science.gov (United States)

    Lal, Manjari; Jarrahian, Courtney

    2017-01-02

    Oral administration of vaccines is simpler and more acceptable than injection via needle and syringe, particularly for infants (Fig. 1) This route is promising for new vaccines in development against enterotoxigenic Escherichia coli (ETEC) and Shigella that cause childhood diarrhea with devastating consequences in low-resource countries. However, vaccine antigens and adjuvants given orally need buffering against the degradative effects of low stomach pH, and the type and volume of antacid buffer require special attention for infants. In addition, container/closure systems must be compatible with vaccine formulations, protect against water and gas transfer, and have minimal impact on the cold chain. Health care workers in demanding low-resource settings need an administration device that is easy to use, yet will accurately measure and safely deliver the correct vaccine dose. Developers must consider manufacturing capabilities, and immunization program managers want affordable vaccines. As new combination enteric vaccine candidates advance into clinical evaluation, features of the final vaccine presentation-liquid or dry format, diluent, buffer, primary and secondary packaging, and administration device-should be taken into account early in product development to achieve the greatest possible impact for the vaccine.

  10. Sjogrens Syndrome Presenting with Central Nervous System Involvement

    Directory of Open Access Journals (Sweden)

    Tülay Terzi

    2012-01-01

    Full Text Available Sjogren’s syndrome is a slowly progressive autoimmune disease. Neurological involvement occurs in approximately 20-25% cases in Sjogren’s syndrome. 87% of the neurological involvement is peripheral nervous system, almost 13% in the form of central nervous system involvement. Affected central nervous system may show similar clinical and radiological findings as in multiple sclerosis (MS. In this paper, a 43-year-old patient is discussed who was referred with the complaint of dizziness, there was MS- like lesions in brain imaging studies and was diagnosed with Sjogren’s syndrome. MS- like clinical and radiologic tables can be seen, albeit rarely in Sjogren’s syndrome. In these cases, early diagnosis and early treatment for the sjögren has a great importance for the prognosis of the disease.

  11. X-linked Hyper IgM Syndrome Presenting as Pulmonary Alveolar Proteinosis.

    Science.gov (United States)

    Gallagher, Joel; Adams, Juan; Hintermeyer, Mary; Torgerson, Troy R; Lopez-Guisa, Jesus; Ochs, Hans D; Szabo, Sara; Salib, Mina; Verbsky, James; Routes, John

    2016-08-01

    X-linked hyper IgM syndrome (XHIGM) is a combined immunodeficiency caused by mutations in the CD40 ligand (CD40L) gene that typically results in decreased or absent CD40L expression on activated T cells, leading to defective class switching and somatic hypermutation. We describe an infant who presented with respiratory failure due to pulmonary alveolar proteinosis (PAP) with a novel damaging missense mutation in the CD40L gene. Whole exome sequencing (WES) was used to identify a mutation in the CD40L gene. CD40L expression and function were determined by flow cytometry. A 5-month-old previously-healthy male presented with respiratory failure and diffuse pulmonary ground glass opacities on CT scan of the chest. Laboratory evaluation revealed an undetectable IgG, normal IgA, and elevated IgM. A bronchoalveolar lavage demonstrated pulmonary alveolar proteinosis. WES demonstrated a c.608G > C mutation in the CD40L gene resulting in p.R203T. Flow cytometry demonstrated normal CD40L expression on activated T cells but absent binding of CD40-Ig to CD40L on activated patient T cells. The clinical manifestations of XHIGM in our patient had several unique features, including the presentation with PAP, normal serum IgA, and expression of non-functional CD40L on activated T cells. To our knowledge, this is the first published case of PAP in a patient with XHIGM.

  12. Sacrococcygeal Teratoma Presenting with Vaginal Discharge and Polyp in an Infant.

    Science.gov (United States)

    Ladenhauf, Hannah N; Brandtner, M Georgina; Schimke, Christa; Ardelean, Mircia A; Metzger, Roman

    2017-12-18

    Sacrococcygeal teratoma accounts for the most common solid tumor in neonates. Because of improved technology, 50%-70% of cases can be diagnosed antenatally during routine ultrasound screenings. If not diagnosed antenatally, clinical findings at birth are distinct in most cases including a palpable or visible mass. We report an unusual case of a 1-year-old girl who presented with persistent vaginal discharge leading to diagnosis of a mucosal polypoid lesion of the vagina, ultimately revealing a hidden sacrococcygeal teratoma. We suggest thorough investigation of all infants who present with purulent discharge and recurrent vaginal mass; sacrococcygeal teratoma should routinely be considered as a differential diagnosis. Copyright © 2017 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  13. Down syndrome in black South African infants and children - clinical ...

    African Journals Online (AJOL)

    %) being children (13 months of age or older). Cytogenetic analysis showed that in 52 (94.6%) patients the diagnosis was trisomy 21, in 2 (3.6%) patients a translocation involving chromosome 21 was present, and 1. (1.8%) patient had mosaic ...

  14. A Case of Newly Diagnosed Klippel Trenaunay Weber Syndrome Presenting with Nephrotic Syndrome

    Directory of Open Access Journals (Sweden)

    Egemen Cebeci

    2015-01-01

    Full Text Available Klippel Trenaunay Weber syndrome (KTWS is a rare disease characterized by hemihypertrophy, variceal enlargement of the veins, and arteriovenous (AV malformations. Renal involvement in KTWS is not known except in rare case reports. Herein, we present a case of KTWS with nephrotic syndrome. A 52-year-old male was admitted due to dyspnea and swelling of the body for the last three months. The pathological physical findings were diffuse edema, decreased lung sounds at the right basal site, increased diameter and decreased length of the left leg compared with the right one, diffuse variceal enlargements, and a few hemangiomatous lesions on the left leg. The pathological laboratory findings were hypoalbuminemia, hyperlipidemia, increased creatinine level (1.23 mg/dL, and proteinuria (7.6 g/day. Radiographic pathological findings were cystic lesions in the liver, spleen, and kidneys, splenomegaly, AV malformation on the left posterolateral thigh, and hypertrophy of the soft tissues of the proximal left leg. He was diagnosed to have KTWS with these findings. Renal biopsy was performed to determine the cause of nephrotic syndrome. The pathologic examination was consistent with focal segmental sclerosis (FSGS. He was started on oral methylprednisolone at the dosage of 1 mg/kg and began to be followedup in the nephrology outpatient clinic.

  15. A Case of Newly Diagnosed Klippel Trenaunay Weber Syndrome Presenting with Nephrotic Syndrome

    Science.gov (United States)

    Cebeci, Egemen; Demir, Secil; Gursu, Meltem; Sumnu, Abdullah; Yamak, Mehmet; Doner, Barıs; Karadag, Serhat; Uzun, Sami; Behlul, Ahmet; Ozkan, Oktay; Ozturk, Savas

    2015-01-01

    Klippel Trenaunay Weber syndrome (KTWS) is a rare disease characterized by hemihypertrophy, variceal enlargement of the veins, and arteriovenous (AV) malformations. Renal involvement in KTWS is not known except in rare case reports. Herein, we present a case of KTWS with nephrotic syndrome. A 52-year-old male was admitted due to dyspnea and swelling of the body for the last three months. The pathological physical findings were diffuse edema, decreased lung sounds at the right basal site, increased diameter and decreased length of the left leg compared with the right one, diffuse variceal enlargements, and a few hemangiomatous lesions on the left leg. The pathological laboratory findings were hypoalbuminemia, hyperlipidemia, increased creatinine level (1.23 mg/dL), and proteinuria (7.6 g/day). Radiographic pathological findings were cystic lesions in the liver, spleen, and kidneys, splenomegaly, AV malformation on the left posterolateral thigh, and hypertrophy of the soft tissues of the proximal left leg. He was diagnosed to have KTWS with these findings. Renal biopsy was performed to determine the cause of nephrotic syndrome. The pathologic examination was consistent with focal segmental sclerosis (FSGS). He was started on oral methylprednisolone at the dosage of 1 mg/kg and began to be followedup in the nephrology outpatient clinic. PMID:26000182

  16. [Effect of early caffeine treatment on the need for respirator therapy in preterm infants with respiratory distress syndrome].

    Science.gov (United States)

    Wei, Qiao-Zhen; Su, Ping; Han, Jin-Tian; Zhang, Xia; Duan, Yu-Hui

    2016-12-01

    To study the efficacy of early caffeine treatment in preterm infants with respiratory distress syndrome (RDS). A prospective controlled clinical trial was performed. A total of 59 preterm infants with RDS were enrolled and divided into a caffeine group (30 infants) and a control group (29 infants). Caffeine was administered in the caffeine group and control group at the same dosage at 12-24 hours after birth and before extubation respectively. The respirator parameters and the incidence rates of ventilator-associated pneumonia (VAP) and apnea were compared between the two groups. Compared with the control group, the caffeine group had significantly lower peak inspiratory pressure, peak fraction of inspired oxygen, and incidence rate of VAP (papnea after extubation (papnea 1-2 days after extubation (ppreterm infants with RDS, help with early extubation and ventilator weaning, reduce the oxygen time in the late stage, reduce the incidence of VAP, and prevent the development of apnea after extubation.

  17. Do pacifiers reduce the risk of sudden infant death syndrome? A meta-analysis.

    Science.gov (United States)

    Hauck, Fern R; Omojokun, Olanrewaju O; Siadaty, Mir S

    2005-11-01

    Pacifier use has been reported to be associated with a reduced risk of sudden infant death syndrome (SIDS), but most countries around the world, including the United States, have been reluctant to recommend the use of pacifiers because of concerns about possible adverse effects. This meta-analysis was undertaken to quantify and evaluate the protective effect of pacifiers against SIDS and to make a recommendation on the use of pacifiers to prevent SIDS. We searched the Medline database (January 1966 to May 2004) to collect data on pacifier use and its association with SIDS, morbidity, or other adverse effects. The search strategy included published articles in English with the Medical Subject Headings terms "sudden infant death syndrome" and "pacifier" and the keywords "dummy" and "soother." Combining searches resulted in 384 abstracts, which were all read and evaluated for inclusion. For the meta-analysis, articles with data on the relationship between pacifier use and SIDS risk were limited to published original case-control studies, because no prospective observational reports were found; 9 articles met these criteria. Two independent reviewers evaluated each study on the basis of the 6 criteria developed by the American Academy of Pediatrics Task Force on Infant Positioning and SIDS; in cases of disagreement, a third reviewer evaluated the study, and a consensus opinion was reached. We developed a script to calculate the summary odds ratio (SOR) by using the reported ORs and respective confidence intervals (CI) to weight the ORs. We then pooled them together to compute the SOR. We performed the Breslow-Day test for homogeneity of ORs, Cochran-Mantel-Haenszel test for the null hypothesis of no effect (OR = 1), and the Mantel-Haenszel common OR estimate. The consistency of findings was evaluated and the overall potential benefits of pacifier use were weighed against the potential risks. Our recommendation is based on the taxonomy of the 5-point (A-E) scale adopted

  18. Clinical presentation and management of arterial thoracic outlet syndrome.

    Science.gov (United States)

    Vemuri, Chandu; McLaughlin, Lauren N; Abuirqeba, Ahmmad A; Thompson, Robert W

    2017-05-01

    Arterial thoracic outlet syndrome (TOS) is a rare condition characterized by subclavian artery pathology associated with a bony abnormality. This study assessed contemporary clinical management of arterial TOS at a high-volume referral center. A prospectively maintained database was used to conduct a retrospective review of patients undergoing primary or reoperative treatment for arterial TOS during an 8-year period (2008 to 2016). Presenting characteristics, operative findings, and clinical and functional outcomes were evaluated. Forty patients underwent surgical treatment for arterial TOS, representing 3% of 1401 patients undergoing operations for all forms of TOS during the same interval. Patients were a mean age of 40.3 ± 2.2 years (range, 13-68 years), and 72% were women. More than half presented with upper extremity ischemia/emboli (n = 21) or posterior stroke (n = 2), including eight that had required urgent brachial artery thromboembolectomy. The presentation in 17 (42%) was nonvascular, with 11 having symptoms of neurogenic TOS and six having an asymptomatic neck mass or incidentally discovered subclavian artery dilatation. All patients underwent thoracic outlet decompression (25 supraclavicular, 15 paraclavicular), of which there were 30 (75%) with a cervical rib (24 complete, 6 partial), 5 with a first rib abnormality, 4 with a clavicle fracture, and 1 (reoperation) with no remaining bone abnormality. Subclavian artery reconstruction was performed in 70% (26 bypass grafts, 1 patch, 1 suture repair), and 30% had mild subclavian artery dilatation (<100%) requiring no arterial reconstruction. Mean postoperative length of stay was 5.4 ± 0.6 days. During a mean follow-up of 4.5 ± 0.4 years (range, 0.9-8.1 years), subclavian artery patency was 92%, none had further dilatation or embolism, and chronic symptoms were present in six (4 postischemic/vasospasm, 2 neurogenic). Functional outcomes measured by scores on the 11-item version of the

  19. Resolution of Spatial and Temporal Visual Attention in Infants with Fragile X Syndrome

    Science.gov (United States)

    Farzin, Faraz; Rivera, Susan M.; Whitney, David

    2011-01-01

    Fragile X syndrome is the most common cause of inherited intellectual impairment and the most common single-gene cause of autism. Individuals with fragile X syndrome present with a neurobehavioural phenotype that includes selective deficits in spatiotemporal visual perception associated with neural processing in frontal-parietal networks of the…

  20. Down syndrome and moyamoya: clinical presentation and surgical management.

    Science.gov (United States)

    See, Alfred P; Ropper, Alexander E; Underberg, Daniel L; Robertson, Richard L; Scott, R Michael; Smith, Edward R

    2015-07-01

    OBJECT Moyamoya can cause cerebral ischemia and stroke in Down syndrome (DS) patients. In this study, the authors defined a surgically treated population of patients with DS and moyamoya and compared their clinical presentation, response to surgical treatment, and long-term prognosis with those of the general population of patients with moyamoya but without DS. METHODS This study was a retrospective review of a consecutive operative series of moyamoya patients with DS treated at Boston Children's Hospital from 1985 through 2012. RESULTS Thirty-two patients, average age 9.7 years (range 1.8-29.3 years), underwent surgery for moyamoya in association with DS. The majority presented with ischemic symptoms (87% stroke, 42% transient ischemic attacks). Twenty-four patients (75%) had congenital heart disease. Nineteen patients (59%) had bilateral moyamoya on presentation, and 13 presented with unilateral disease, of which 2 progressed to surgery on the opposite side at a later date. Patients were followed for a median of 7.5 years (1-20.2 years) after surgery, with no patients lost to follow-up. Follow-up arteriography demonstrated Matsushima Grade A collaterals in 29 of 39 (74%) hemispheres, Grade B in 5 (13%), and Grade C in 5 (13%). Complications included postoperative strokes in 2 patients, which occurred within 48 hours of surgery in both; one of these patients had arm weakness and the other confusion (both had recovered completely at follow-up). Seizures occurred in 5 patients perioperatively, including one who had a new seizure disorder related to hypocalcemia. CONCLUSIONS Moyamoya disease is a cause of stroke in patients with DS. Both the incidence of preoperative stroke (87% vs 67%) and the average age at diagnosis for children under age 21 (8.4 vs 6.5 years) were greater in patients with DS and moyamoya than in the general moyamoya surgical population, suggesting a possible delay in reaching a correct diagnosis of the cause of cerebral ischemia in the DS patient

  1. Decreased GABAA receptor binding in the medullary serotonergic system in the sudden infant death syndrome.

    Science.gov (United States)

    Broadbelt, Kevin G; Paterson, David S; Belliveau, Richard A; Trachtenberg, Felicia L; Haas, Elisabeth A; Stanley, Christina; Krous, Henry F; Kinney, Hannah C

    2011-09-01

    γ-Aminobutyric acid (GABA) neurons in the medulla oblongata help regulate homeostasis, in part through interactions with the medullary serotonergic (5-HT) system. Previously, we reported abnormalities in multiple 5-HT markers in the medullary 5-HT system of infants dying from sudden infant death syndrome (SIDS), suggesting that 5-HT dysfunction is involved in its pathogenesis. Here, we tested the hypothesis that markers of GABAA receptors are decreased in the medullary 5-HT system in SIDS cases compared with controls. Using tissue receptor autoradiography with the radioligand H-GABA, we found 25% to 52% reductions in GABAA receptor binding density in 7 of 10 key nuclei sampled of the medullary 5-HT system in the SIDS cases (postconceptional age [PCA] = 51.7 ± 8.3, n = 28) versus age-adjusted controls (PCA = 55.3 ± 13.5, n = 8) (p ≤ 0.04). By Western blotting, there was 46.2% reduction in GABAAα3 subunit levels in the gigantocellularis (component of the medullary 5-HT system) of SIDS cases (PCA = 53.9 ± 8.4, n = 24) versus controls (PCA = 55.3 ± 8.3, n = 8) (56.8% standard in SIDS cases vs 99.35% in controls; p = 0.026). These data suggest that medullary GABAA receptors are abnormal in SIDS infants and that SIDS is a complex disorder of a homeostatic network in the medulla that involves deficits of the GABAergic and 5-HT systems.

  2. Optical Coherence Tomography in an Infant with Walker-Warburg Syndrome

    Directory of Open Access Journals (Sweden)

    Natsuko Mano

    2015-06-01

    Full Text Available Purpose: Walker-Warburg syndrome (WWS is a type of congenital muscular dystrophy (CMD characterised by severe brain malformation, lissencephaly, and congenital eye abnormalities. Despite the coexistence of various eye abnormalities, results from optical coherence tomography (OCT in WWS have not previously been reported. We herein report specific OCT findings in an infant with WWS. Patients and Methods: The patient was a 14-day-old boy delivered by caesarean section at 38 weeks and 4 days of gestation and with a birth weight of 2,543 g. A cranial MRI showed lissencephaly, hydrocephalus, an encephalocele, and cerebellar hypoplasia, consistent with the diagnosis of WWS. Results: A bilateral ocular examination showed no abnormalities of the anterior eye segment. A fundus examination showed a persistent hyaloid artery in the vitreous cavity, a widespread loss of fundus pigmentation, transparent choroidal vessels (some choroidal vessel sections were visible, and the absence of a distinct macular reflex. OCT showed no foveal pit and an indistinct laminar structure of the retina. The infant subsequently developed congenital glaucoma and he then died of respiratory failure at the age of 8 months. Conclusions: WWS is associated with a high incidence of congenital eye abnormalities, and this infant showed findings consistent with WWS. OCT revealed a marked retinal dysplasia.

  3. Twin-twin transfusion syndrome: neurodevelopment of infants treated with laser surgery

    Directory of Open Access Journals (Sweden)

    Denise Campos

    2016-04-01

    Full Text Available ABSTRACT Objective To assess the neurodevelopmental functions of survivors of twin-twin transfusion syndrome (TTTS treated by fetoscopic laser coagulation (FLC, during the first year of life, comparing them to a control group; and to verify the influence of specific variables on neurodevelopment. Method This was a prospective, longitudinal study. The sample comprised 33 monochorionic diamniotic twins who underwent FLC for treatment of TTTS and 22 full-term infants of single-fetus pregnancies. Bayley Scales of Infant and Toddler Development Screening Test were used for evaluation. Prenatal, perinatal and postnatal information were obtained. Results There was an increased frequency of infants in the TTTS group with inadequate performance compared to the control group. The identified variables (fetal donor, low economic income and cardiorespiratory disease negatively impacted expressive communication and fine motor skills. Conclusion Although through follow-up is recommended in all TTTS survivors, particular attention is required for the high-risk group as defined in this study.

  4. Adaptive Behavior and Development of Infants and Toddlers with Williams Syndrome

    Directory of Open Access Journals (Sweden)

    Rebecca M. Kirchner

    2016-04-01

    Full Text Available Williams syndrome (WS is a neurodevelopmental disorder that causes deficits in adaptive behavior, difficulties eating and sleeping, cognitive delays, and delayed development. Although researchers have conducted characterizations of children and adults with WS, less is known about young children with this disorder. This study characterizes the developmental and adaptive behavior features of 16 infants and toddlers with WS aged 3 months - 5 years. Data for this project was obtained from 2007-2014, and includes parent report data and standardized developmental testing. Thirty-one percent (31.3% of parents reported that their infant/toddler with WS had sleeping problems and 58.3% reported feeding difficulties. Levels of adaptive behavior were in the Mildly Delayed range as measured by the Adaptive Behavior Assessment System, Second Edition. Self care skills such as feeding or dressing oneself were significantly weaker than skills needed to function in the community, such as recognizing his/her home or throwing away trash. The difficulty with self-care skills is hypothesized to be related to the reported difficulties with eating and sleeping. Motor skills were significantly lower than both cognitive and language skills on the Bayley Scales of Infant and Toddler Development, Third Edition. The current study highlights the need for early intervention in these young children across all areas of development, particularly in self-care skills.

  5. Sudden infant death syndrome (SIDS - The role of trigemino-cardiac reflex: A review

    Directory of Open Access Journals (Sweden)

    Gyaninder Pal Singh

    2016-12-01

    Full Text Available Sudden infant death syndrome (SIDS is an unexplained death in infants that usually occurs during sleep. The cause of SIDS remains unknown and multifactorial. In this regard, the diving reflex (DR, a peripheral subtype of trigeminocardiac reflex (TCR is also hypothesized as one of the possible mechanisms for this condition. The TCR is a well-established neurogenic reflex which manifests as bradycardia, hypotension, apnea, and gastric hyper motility. The TCR shares many similarities with the DR which is a significant physiological adaptation to withstand hypoxia during apnea in many animal species including humans in clinical manifestation and mechanism of action. The DR is characterized by breath-holding (apnea, bradycardia and vasoconstriction leading to rising in blood pressure. Several studies have described congenital anomalies of autonomic nervous system in the pathogenesis of SIDS such as hypoplasia, delayed neuronal maturation or decreased neuronal density of arcuate nucleus, hypoplasia and neuronal immaturity of the hypoglossal nucleus. The abnormalities of autonomic nervous system in SIDS may explain the role of TCR in this syndrome involving sympathetic and parasympathetic nervous system. We reviewed the available literature to identify the role of TCR in the etiopathogenesis of SIDS and the pathways and cellular mechanism involved in it. This synthesis will help to update our knowledge and improve our understanding about this mysterious, yet common condition and will open the door for further research in this field.

  6. Carotid sinus syndrome as the presenting symptom of cystadenolymphoma

    Directory of Open Access Journals (Sweden)

    Noroozi Nelson

    2012-11-01

    Full Text Available Abstract Carotid sinus syndrome is a serious manifestation of head and neck malignancy. The purpose of this study was to clarify the presence of carotid sinus syndrome in a patient with cystadenolymphoma. To our knowledge carotid sinus syndrome secondary to cystadenolymphoma has not been reported to date. A 45-year-old woman with one-week-old swelling in the left mandibular angle having disturbing symptoms of vertigo, consciousness and sinus arrest. Holter monitoring revealed several episodes of sinus arrest. Ultrasonography showed a well-defined space-occupying lesion of about 31 mm in length and 17 mm in width located in the deep lobe of the left parotid gland. Computerized tomography (CT showed a large mass extending into the carotid space and protruding into the parapharyngeal space. Parotidectomy was performed. Surgical removal of the tumor resulted in complete amelioration of symptoms and disappearance of electrocardiogram abnormalities. Here we report on a clinical case of carotid sinus syndrome associated with cystadenolymphoma. To our knowledge carotid sinus syndrome secondary to cystadenolymphoma has not been reported to date, and is made more remarkable as a possible differential diagnosis after clarification of all possible causes. Early diagnosis and immediate management can minimize complications.

  7. Post-Patent Ductus Arteriosus ligation syndrome with hypertension and masking of renal artery stenosis in an infant.

    Science.gov (United States)

    ElSeed Peterson, Erica E; Mauriello, Daniel

    2018-02-07

    Post-patent ductus arteriosus ligation syndrome is common, but rarely has hypertension been described following ductal ligation with an unclear mechanism. We report a case of an infant who exhibited features of post-patent ductus arteriosus ligation syndrome and hypertension, but was found to have bilateral renal artery stenosis. Increased systemic vascular resistance can be masked by the parallel circuit physiology of a patent ductus arteriosus.

  8. Continuous distending airway pressure for respiratory distress syndrome in preterm infants.

    Science.gov (United States)

    Ho, J J; Subramaniam, P; Henderson-Smart, D J; Davis, P G

    2000-01-01

    Respiratory distress syndrome (RDS) is the single most important cause of morbidity and mortality in preterm infants (Greenough 1998, Bancalari 1992). Intermittent positive pressure ventilation (IPPV) with surfactant is the standard treatment for the condition. The major difficulty with IPPV is that it is invasive, resulting in airway and lung injury and contributing to the development of chronic lung disease. In spontaneously breathing preterm infants with RDS, to determine if continuous distending airway pressure (CDAP) reduces the need for IPPV and associated morbidity without adverse effects. The standard search strategy of the Neonatal Review group was used. This included searches of the Oxford Database of Perinatal Trials, Cochrane Controlled Trials Register, MEDLINE, previous reviews including cross references, abstracts, conference and symposia proceedings, expert informants, journal hand searching mainly in the English language. All trials using random or quasi-random patient allocation of newborn infants with RDS were eligible. Interventions were continuous distending airway pressure including continuous positive airway pressure (CPAP) by mask, nasal prong, nasopharnygeal tube, or endotracheal tube, or continuous negative pressure (CNDP) via a chamber enclosing the thorax and lower body, compared with standard care. Standard methods of the Cochrane Collaboration and its Neonatal Review Group, including independent assessment of trial quality and extraction of data by each author, were used. CDAP is associated with a lower rate of failed treatment (death or use of assisted ventilation), overall mortality, and mortality in infants with birthweights above 1500 g. The use of CDAP is associated with an increased rate of pneumothorax. In preterm infants with RDS the application of CDAP either as CPAP or CNDP is associated with some benefits, particularly in infants with birthweights over 1500 gms. The extent of this benefit is difficult to assess given the

  9. Surfactant administration without intubation in preterm infants with respiratory distress syndrome--our experiences.

    Science.gov (United States)

    Krajewski, Paweł; Chudzik, Anita; Strzałko-Głoskowska, Barbara; Górska, Monika; Kmiecik, Magdalena; Więckowska, Katarzyna; Mesjasz, Anna; Sieroszewski, Piotr

    2015-07-01

    Surfactant replacement therapy is crucial in the management of respiratory distress syndrome (RDS) in preterm infants. Classic strategies of surfactant administration required intubation. To reduce the need of intubation and mechanical ventilation (MV), we applied surfactant via a thin endotracheal catheter without intubation. We compared 26 preterm infants threatened by RDS treated with surfactant via a thin endotracheal catheter without intubation (studied group - SG) with a retrospective group of preterm infants managed on MV with early surfactant treatment using INtubation SURfactant Extubation (INSURE) method (control group - CG). Study had an approval from the ethics committee (RNN/6/14/KE). In the SG, 26 preterm infants were treated with one dose of surfactant (Curosurf®) administered via endotracheal catheter without intubation while receiving nasal continuous positive airway pressure (nCPAP)/SiPAP (Infant Flow). After surfactant administration, significantly less patients in SG required intubation and MV (19.2%) versus 65% necessity of second intubation in the CG. The median of time of MV in SG was 5 d versus 3.5 d in CG. Median time spent on nCPAP was 5.5 d versus 4.0 d in CG. The incidence of intraventricular hemorrhage (IVH) in the SG was 53.9%, including 50% with ≥ IVH II versus 36.7% (30% ≥ IVH II) in CG. The incidence of other complications of prematurity in the SG, such as necrotizing enterocolitis was 11.5% versus 23.3% in CG, the hemodynamically important patent ductus arteriosus was observed in 53.9% in SG versus 45% in CG. Bronchopulmonary dysplasia level in SG was significantly lower (15.4%) than in CG (40%), and the incidence of retinopathy of prematurity in SG was also lower (3.9%) versus 11.7% in MV group. Surfactant application via a thin endotracheal catheter without intubation seems to be a beneficial therapy for preterm infants with slight and mild degree of RDS. This new method of surfactant application was associated with a lower

  10. Maternal cigarette smoking is associated with increased inner airway wall thickness in children who die from sudden infant death syndrome.

    Science.gov (United States)

    Elliot, J; Vullermin, P; Robinson, P

    1998-09-01

    The harmful effects of passive cigarette smoke exposure to infants include an increased frequency of asthma exacerbations, lower respiratory viral infections, and the sudden infant death syndrome (SIDS). Because of a difficulty in obtaining airway tissue from infants, little information is available on the effects of passive cigarette smoke exposure on the structure of the infant airway wall. We examined airway dimensions in 19 children who died from SIDS whose mothers smoked more than 20 cigarettes a day prenatally and postnatally, and compared these data with those from 19 infants who died from SIDS and had nonsmoking mothers. Total inner and outer wall areas were calculated for each airway and expressed in terms of the basement membrane perimeter (Pbm). Inner airway wall thickness was greater in the larger airways of those infants whose mothers had smoked more than 20 cigarettes a day. These findings suggest that infants exposed to a high level of passive cigarette smoke develop significant structural changes in their airways. Increased airway wall thickness may contribute to exaggerated airway narrowing and may help explain the previously observed abnormalities in neonatal lung function that have been described in infants of smoking mothers.

  11. Juvenile polyposis syndrome presenting as intussusception in a ...

    African Journals Online (AJOL)

    We report a rare case of juvenile polyposis syndrome (JPS) in a 5 year old girl who was admitted into the emergency room on account of acute intestinal obstruction secondary to ileo-colic intussusception. Prior to the admission, she has had repeated blood transfusion in the referring hospital following anaemia due to long ...

  12. Brugada-like syndrome presenting with monomorphic ventricular ...

    African Journals Online (AJOL)

    Brugada syndrome is an autosomal-dominant arythmogenic genetic disorder associated with mutation in the SCN5A gene. We report a case of 3-month-old Tanzanian male who was admitted at Muhimbili National Hospital in Dar es Salaam, Tanzania with severe pneumonia, high fever and monomorphic ventricular ...

  13. Guillain barre syndrome as initial presentation of systemic lupus ...

    African Journals Online (AJOL)

    Background: Systemic Lupus Erythematosus (SLE) is an autoimmune disease characterized by multiple organ involvement including the peripheral nervous system. Guillan- Barrè syndrome (GBS) has an established association with SLE as one of its neurologic manifestations. However, GBS as an initial manifestation of ...

  14. Chediak-Higashi syndrome presenting in the accelerated phase ...

    African Journals Online (AJOL)

    Chediak-Higashi syndrome (CHS) is an extremely rare autosomal recessive disorder characterised by recurrent pyogenic infections, partial oculocutaneous albinism, and mild bleeding. The most reliable finding that helps in diagnosis is abnormally large granules in leukocytes and other granule-containing cells. Herein we ...

  15. Peutz Jeghers Syndrome Presented as intermittent gastric outlet ...

    African Journals Online (AJOL)

    Peutz Jeghers Syndrome (PJS), which was first described in 1921 by Peutz, followed by Jeghers etal in 1949, is an uncommon but not a rare disorder characterized by mucocutaneous melanin pigmentation, gastrointestinal hamartomatous polyps and increased risk of gastrointestinal and other organs cancer. The polyps ...

  16. The patterns of clinical presentations of cerebellar syndromes ...

    African Journals Online (AJOL)

    Gait-ataxia was the most common sign (83%). Cerebrovascular disease was the most common aetiology (25%). Conclusion: Cerebellar syndromes are not rare in Sudan. However, they were diagnosed more commonly at the central regions of the country probably because of more awareness of patients and better facilities

  17. Caudal Regression Syndrome/neurogenic bladder presented as ...

    African Journals Online (AJOL)

    Burhan M. Edrees

    health status of the patients.1 This syndrome usually occurs in combination with morphologic dysfunction of the feet and spinal cord malformations. It can be said that CRS is a rare and serious medical condition ... mities within the spinal cord, brain, or nervous supply. A number .... Negative HIV Elisa and nor- mal level of ...

  18. Mitochondrial DNA depletion syndrome presenting with ataxia and ...

    African Journals Online (AJOL)

    Laila Selim

    2012-07-24

    Jul 24, 2012 ... Abstract The mitochondrial DNA depletion syndromes are autosomal recessive disorders character- ized by decreased mitochondrial DNA copy number in affected tissues. Mutations in 2 genes involved in deoxyribonucleotide metabolism, the deoxyguanosine kinase gene and the thymidine kinase 2 gene,.

  19. Presenting Symptoms in Pediatric Restless Legs Syndrome Patients

    NARCIS (Netherlands)

    de Weerd, Al; Arico, Irene; Silvestri, Rosalia

    2013-01-01

    Objective: The diagnosis restless legs syndrome (RLS) in children depends on the history told by the child and his parents. The description of symptoms given by the child him or herself is most important. Additional criteria are, among others, the results of polysomnography (PSG). Description of the

  20. Presentation of an infant with nutritional deficiency dermatitis as the initial manifestation of cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Stojković Anđelka

    2013-01-01

    Full Text Available Introduction. Cystic fibrosis (CF is a multisystemic autosomal recessive disease most frequently recognized by characteristic respiratory and/or digestive manifestations. Exceptionally rare, as is the case with the infant we are presenting, the initial sign of the disease can be nutritional deficiency dermatitis (NDD. Case Outline. A three-month-old male infant of young and healthy non-consanguineous parents, born at term after the first uneventful pregnancy, was hospitalized due to atopic dermatitis (AD-like skin changes, failure to thrive and normochromic anemia (Hb 60 g/L. As exclusively breast-fed, failure to thrive was attributed to hypogalactia and skin changes to nutritional allergy, so that, besides exclusion of cow’s milk protein and other highly allergenic foods in mother’s diet, hypoallergenic milk formula was added to the child’s diet. However, dietetic measures were without effect, and the child was re-hospitalized at age 4.5 months, this time in the condition of severe malnutrition with hypoproteinemic edemas, extensive dermatitis, moderate hepatosplenomegaly and recurrent normochromic anemia (Hb 57 g/L. After plasma-free erythrocyte transfusion, correction of hypoalbuminemia and two-week parenteral and semi-elementary nutrition resulted in gradual recovery of the child, also including the resolution of skin changes. Having in mind the clinical course of the disease, as well as the response to applied therapeutic measures, CF was suspected as the cause of the child’s problems, which was also confirmed by a high level of sweat chlorine (92 mmol/L and DNA analysis (∆F508/∆F508. Conclusion. Our experience indicates that NDD, as the initial manifestation of CF, should be also kept in mind in differential diagnosis of the infant’s AD-like changes.

  1. Subclinical nephritic syndrome in children cohabiting with pediatric patients, Presenting acute nephritic syndrome

    OpenAIRE

    Guerrero-Tinoco Gustavo Adolfo; Julio-Barrios Emil

    2012-01-01

    Introduction: subclinical nephritic syndrome is the presence of hematuria, hypocomplementemiaand/or proteinuria without the presence of signs and/or symptoms.Objective: to determine the incidence of subclinical nephritic syndrome in childrenliving with pediatric patients diagnosed with acute nephritic syndrome.Methods: family visit to identify children living together in the two previous months, with pediatric patients hospitalized with acute nephritic syndrome, at Hospital InfantilNapoleon F...

  2. Early presentation of gait impairment in Wolfram Syndrome

    Directory of Open Access Journals (Sweden)

    Pickett Kristen A

    2012-12-01

    Full Text Available Abstract Background Classically characterized by early onset insulin-dependent diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and neurological abnormalities, Wolfram syndrome (WFS is also associated with atypical brainstem and cerebellar findings in the first decade of life. As such, we hypothesized that gait differences between individuals with WFS and typically developing (TD individuals may be detectable across the course of the disease. Methods Gait was assessed for 13 individuals with WFS (min 6.4 yrs, max 25.8 yrs and 29 age-matched, typically developing individuals (min 5.6 yrs, max 28.5 yrs using a GAITRite ® walkway system. Velocity, cadence, step length, base of support and double support time were compared between groups. Results Across all tasks, individuals with WFS walked slower (p = 0.03, took shorter (p ≤ 0.001 and wider (p ≤ 0.001 steps and spent a greater proportion of the gait cycle in double support (p = 0.03 compared to TD individuals. Cadence did not differ between groups (p = 0.62. Across all tasks, age was significantly correlated with cadence and double support time in the TD group but only double support time was correlated with age in the WFS group and only during preferred pace forward (rs= 0.564, p = 0.045 and dual task forward walking (rs= 0.720, p = 0.006 tasks. Individuals with WFS also had a greater number of missteps during tandem walking (p ≤ 0.001. Within the WFS group, spatiotemporal measures of gait did not correlate with measures of visual acuity. Balance measures negatively correlated with normalized gait velocity during fast forward walking (rs = −0.59, p = 0.03 and percent of gait cycle in double support during backward walking (rs = −0.64, p = 0.03. Conclusions Quantifiable gait impairments can be detected in individuals with WFS earlier than previous clinical observations suggested. These impairments are not fully accounted for by the visual or balance deficits

  3. Early presentation of gait impairment in Wolfram Syndrome.

    Science.gov (United States)

    Pickett, Kristen A; Duncan, Ryan P; Hoekel, James; Marshall, Bess; Hershey, Tamara; Earhart, Gammon M

    2012-12-08

    Classically characterized by early onset insulin-dependent diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and neurological abnormalities, Wolfram syndrome (WFS) is also associated with atypical brainstem and cerebellar findings in the first decade of life. As such, we hypothesized that gait differences between individuals with WFS and typically developing (TD) individuals may be detectable across the course of the disease. Gait was assessed for 13 individuals with WFS (min 6.4 yrs, max 25.8 yrs) and 29 age-matched, typically developing individuals (min 5.6 yrs, max 28.5 yrs) using a GAITRite ® walkway system. Velocity, cadence, step length, base of support and double support time were compared between groups. Across all tasks, individuals with WFS walked slower (p = 0.03), took shorter (p ≤ 0.001) and wider (p ≤ 0.001) steps and spent a greater proportion of the gait cycle in double support (p = 0.03) compared to TD individuals. Cadence did not differ between groups (p = 0.62). Across all tasks, age was significantly correlated with cadence and double support time in the TD group but only double support time was correlated with age in the WFS group and only during preferred pace forward (rs = 0.564, p = 0.045) and dual task forward walking (rs = 0.720, p = 0.006) tasks. Individuals with WFS also had a greater number of missteps during tandem walking (p ≤ 0.001). Within the WFS group, spatiotemporal measures of gait did not correlate with measures of visual acuity. Balance measures negatively correlated with normalized gait velocity during fast forward walking (rs = -0.59, p = 0.03) and percent of gait cycle in double support during backward walking (rs = -0.64, p = 0.03). Quantifiable gait impairments can be detected in individuals with WFS earlier than previous clinical observations suggested. These impairments are not fully accounted for by the visual or balance deficits associated with WFS, and may be a reflection of early cerebellar and

  4. Inositol in preterm infants at risk for or having respiratory distress syndrome.

    Science.gov (United States)

    Howlett, Alexandra; Ohlsson, Arne; Plakkal, Nishad

    2015-02-04

    Inositol is an essential nutrient required by human cells in culture for growth and survival. Inositol promotes maturation of several components of surfactant and may play a critical role in fetal and early neonatal life. To assess the effectiveness and safety of supplementary inositol in preterm infants with or without respiratory distress syndrome (RDS) in reducing adverse neonatal outcomes. The Cochrane Central Register of Controlled Trials (CENTRAL) in The Cochrane Library, MEDLINE, EMBASE, CINAHL, Clinicaltrials.gov and Controlled-trials.com were searched in September 2014. The reference lists of identified randomised controlled trials (RCTs), personal files and Web of Science were searched. All RCTs of inositol supplementation of preterm infants compared with a control group that received a placebo or no intervention were included. Outcomes of interest were neonatal death, infant death, bronchopulmonary dysplasia (BPD), retinopathy of prematurity (ROP), intraventricular haemorrhage (IVH), necrotizing enterocolitis (NEC) and sepsis. Data on neonatal outcomes were abstracted independently by the three review authors and any discrepancy was resolved through consensus. Outcomes were reported as relative risk (RR), risk difference (RD) and number needed to treat to benefit (NNTB) or to harm (NNTH). Four published RCTs and one ongoing RCT were identified. Study quality varied and interim analyses had occurred in all trials of repeat doses of inositol that provided data for the outcomes of interest in this review. In these trials neonatal death was found to be significantly reduced (3 trials, 355 neonates; typical RR 0.53, 95% CI 0.31 to 0.91; typical RD -0.09, 95% CI -0.17 to -0.03; NNTB 11, 95% CI 6 to 33). Infant deaths were reduced (3 trials, 355 infants; typical RR 0.55, 95% CI 0.40 to 0.77; typical RD -0.18, 95% CI -0.27 to -0.08; NNTB 6, 95% CI 4 to 13). ROP stage ≥ 3 was significantly reduced (2 trials, 262 infants; typical RR 0.09, 95% CI 0.01 to 0

  5. Surfactant for meconium aspiration syndrome in term and late preterm infants.

    Science.gov (United States)

    El Shahed, Amr I; Dargaville, Peter A; Ohlsson, Arne; Soll, Roger

    2014-12-14

    Surfactant replacement therapy has been proven beneficial in the prevention and treatment of neonatal respiratory distress syndrome (RDS). The deficiency of surfactant or surfactant dysfunction may contribute to respiratory failure in a broader group of disorders, including meconium aspiration syndrome (MAS). To evaluate the effect of surfactant administration in the treatment of late preterm and term infants with meconium aspiration syndrome. We searched The Cochrane Library (Issue 4, 2006), MEDLINE and EMBASE (1985 to December 2006), previous reviews including cross-references, abstracts, conference and symposia proceedings, expert informants, and journal handsearching, without language restrictions. We contacted study authors for additional data.We ran an updated search in November 2014 and searched the following sites for ongoing or recently completed trials: www.clinicaltrials.gov; www.controlled-trials.com; and www.who.int/ictrp. Randomised controlled trials which evaluated the effect of surfactant administration in late preterm and term infants with meconium aspiration syndrome are included in the analyses. We extracted data on clinical outcomes including mortality, treatment with extracorporeal membrane oxygenation (ECMO), pneumothorax, duration of assisted ventilation, duration of supplemental oxygen, intraventricular haemorrhage (any grade and severe IVH), and chronic lung disease. We conducted data analyses in accordance with the standards of the Cochrane Neonatal Review Group. Four randomised controlled trials met our inclusion criteria. The meta-analysis of four trials (326 infants) showed no statistically significant effect on mortality [typical risk ratio (RR) 0.98, 95% confidence interval (CI) 0.41 to 2.39; typical risk difference (RD) -0.00, 95% CI -0.05 to 0.05]. There was no heterogeneity for this outcome (I² = 0% for both RR and RD). The risk of requiring extracorporeal membrane oxygenation was significantly reduced in a meta-analysis of two

  6. The importance of a forensics investigation of sudden infant death syndrome: recommendations for developing, low and middle income countries

    Directory of Open Access Journals (Sweden)

    Steven A. Koehler

    2010-11-01

    Full Text Available Sudden infant deaths syndrome (SIDS, the sudden and unexpected death of a normal and healthy infant, has remained a medical and forensic mystery. Despite years of research all attempts to ascertain the exact cause and manner of death have failed. The information collected during the course of the comprehensive investigation by the various investigation agencies and analysis of the data has not been in vain. The epidemiological, demographic, and pathological data have identified distinctive features and risk factors associated with infants that died from SIDS. Epidemiological data has provided the unique characteristics of infants that died of SIDS that differentiates them from non-SIDS infants. Analysis of information from the death scene investigation has identified key risk factor behaviour associated with SIDS, namely the prone sleeping position. Pathological examination of the internal organs, specifically the brain, has shown some differences between SIDS and non-SIDS infants. However, to gain a complete picture of SIDS data, all countries around the world must provide information, even basic information, to understand this syndrome better. Developing countries must understand their role and importance in developing plans to investigate, collect, and disseminate SIDS data to the rest of the world. This paper provides general guidelines for the investigation of SIDS in developing countries.

  7. Psychomotor development in infants with Prader-Willi syndrome and associations with sleep-related breathing disorders.

    NARCIS (Netherlands)

    Festen, D.A.M.; Wevers, M.; Weerd, A.W. de; Bossche, R.A. van den; Duivenvoorden, H.J.; Otten, B.J.; Wit, J.M.; Hokken-Koelega, A.C.S.

    2007-01-01

    Prader-Willi syndrome (PWS) is a neurogenetic disorder with hypotonia, psychomotor delay, obesity, short stature, and sleep-related breathing disorders. The aim of this study was to evaluate the association between psychomotor development and sleep-related breathing disorders in PWS infants. Bayley

  8. Language Development in Infants and Toddlers with Fragile X Syndrome: Change over Time and the Role of Attention

    Science.gov (United States)

    Kover, Sara T.; McCary, Lindsay M.; Ingram, Alexandra M.; Hatton, Deborah D.; Roberts, Jane E.

    2015-01-01

    Fragile X syndrome (FXS) is associated with significant language and communication delays, as well as problems with attention. This study investigated early language abilities in infants and toddlers with FXS (n = 13) and considered visual attention as a predictor of those skills. We found that language abilities increased over the study period of…

  9. Comorbidity, hospitalization, and medication use and their influence on mental and motor development of young infants with Down syndrome

    NARCIS (Netherlands)

    van Trotsenburg, A. S. Paul; Heymans, Hugo S. A.; Tijssen, Jan G. P.; de Vijlder, Jan J. M.; Vulsma, Thomas

    2006-01-01

    OBJECTIVE: Young infants with Down syndrome have an increased occurrence of several well-known medical conditions such as congenital heart and gastrointestinal disease. The aim of this study was to establish consequences like hospitalization and medication use rates and to determine their possible

  10. Primary Sjogren’s Syndrome Presenting as Acute Interstitial Pneumonitis/Hamman-Rich Syndrome

    Directory of Open Access Journals (Sweden)

    Abidullah Khan

    2016-01-01

    Full Text Available A previously well, 45-year-old Pakistani lady was admitted to the medical unit on-call of Khyber Teaching Hospital (KTH Peshawar with a 5-day history of fever, productive cough with copious mucoid sputum, dyspnea, and pleuritic chest pain. She also complained of dry eyes, mouth, and vagina. Her chest X-ray showed diffuse alveolar shadowing and arterial gas analysis confirmed type 1 respiratory failure. Over the next few days, she deteriorated rapidly making an urgent transfer to the medical intensive care unit (MICU necessary, where she was mechanically ventilated. An HRCT followed by bronchoscopic biopsies made a diagnosis of acute interstitial pneumonitis (AIP, formerly known as Hamman-Rich syndrome. She also turned out to be positive for both anti-SS-A/Ro and anti-SS-B/La antibodies along with a positive Schirmer’s test and lower lip biopsy. She received intravenous steroids and supportive care. The patient had a complete recovery after approximately three weeks’ stay in the hospital with lung function returning back to normal. This is most probably the first ever case of primary Sjogren syndrome (pSjS presenting as AIP, recovering completely in less than a month time.

  11. A case of Pitt-Hopkins syndrome presented with Angelman-like syndromic phenotypes.

    Science.gov (United States)

    Hong, Syuan-Yu; Chou, I-Ching; Lin, Wei-De; Tsai, Fuu-Jen

    2016-12-01

    Pitt-Hopkins syndrome (PTHS), caused by a TCF4 gene mutation, is a condition characterized by intellectual disability and developmental delay, breathing anomalies, epilepsy, and distinctive facial dysmorphism [1]. Its diverse clinical appearance causes pediatricians to confuse it with Angelman syndrome, which is considered one of the family members of Angelman-like syndrome. Herein, we report on a 4 y/o boy with PTHS and discuss its similarities and differences with Angelman syndrome. In doing so we hope to provide a feasible pathway to diagnose rare diseases, especially Angelman-like syndrome.

  12. Evoking communication in Rett syndrome: comparisons with conversations and games in mother-infant interaction.

    Science.gov (United States)

    Burford, B; Trevarthen, C

    1997-01-01

    Girls with Rett syndrome retain a responsiveness with care-givers that corresponds in many respects with the preverbal communication observed with normal infants. This has characteristic rhythmic patterns and phrases, mutual imitation, reciprocal emotional phases and rudimentary oral, vocal and gestural expressions. After individuals with Rett syndrome have passed the critical stage in dissolution of their attention, co-ordination and voluntary control, they retain positive orientation to human faces and eyes with smiling. Video analyses show that they can engage with rhythms and phrases of conversation, sometimes showing a sense of humour and sensitivity to playful teasing. They respond to repeated patterns of expression in rhythmic/prosodic play and to certain forms in music. It is suggested that sensitive and appropriately attuned support for the rudimentary motives for human contact that survive in Rett syndrome can help stabilisation of self-regulatory states, alleviate panic and confusion and facilitate learning. The effects of the disorder may be a consequence of a genetic fault in the elaboration of an Intrinsic Motive Formation in the reticular core of the embryo brain, leading to dysregulation of differentiation in higher cognitive systems and learning, but leaving partially intact motive principles for human intersubjective response.

  13. Autoimmune Polyglandular Syndrome Type 2: An Unusual Presentation

    Directory of Open Access Journals (Sweden)

    Hamdollah Karamifar

    2010-05-01

    Full Text Available "nAutoimmune polyglandular syndrome (APS type 2 is characterized by the presence of Addison's disease, in association with autoimmune thyroid disease and/or type 1 diabetes mellitus. APS type 2 occurs most often in middle aged females and is rare in children. Here an 11 year old boy is reported with Addison's disease who developed symptom's of diabetes mellitus, goiter, malabsorption, macrocytic anemia and keratitis. APS type 2 occurs most often in middle aged females and is quite rare in children but one should think to autoimmune poly glandular syndrome type II in patient at any age especially in patients with Addison's disease.

  14. Chédiak-Higashi syndrome: presentation of seven cases

    OpenAIRE

    Carnide, Eugénia Maria Grilo; Jacob, Cristina Miuki Abe; Pastorino, Antonio Carlos; Bellinati-Pires, Raquel; Costa, Maria Beatriz Guimarães; Grumach, Anete Sevciovic

    1998-01-01

    CONTEXT: Chédiak-Higashi Syndrome (CHS) is a rare autosomal recessive disease characterized by recurrent infections, giant cytoplasmic granules, and oculocutaneous albinism. OBJECTIVE: To describe clinical and laboratory findings from CHS patients. DESIGN: Case report. SETTING: The patients were admitted into the Allergy and Immunology Unit of the Instituto da Criança, a tertiary public care institution. CASES REPORT: Seven patients had oculocutaneous albinism, recurrent infections and gi...

  15. Stevens-Johnson syndrome and toxic epidermal necrolysis-like cutaneous presentation of chikungunya fever: A case series.

    Science.gov (United States)

    Garg, Taru; Sanke, Sarita; Ahmed, Riaz; Chander, Ram; Basu, Srikanta

    2018-03-24

    Chikungunya fever is a benign, self-limiting, acute viral illness. An epidemic occurred in New Delhi, India, in August and September 2016. We observed many cases with atypical cutaneous features mimicking Stevens-Johnson syndrome and toxic epidermal necrolysis during this epidemic, especially in infants and children. Twenty-one children (13 [61.9%] boys, 8 [38%] girls) presenting with vesico-bullous and necrotic lesions were reviewed. Cutaneous presentation included vesicles and bullae with purpuric macules and necrosis, seen in 16 (76%) patients. Skin lesions resolved in 5-7 days, leaving behind hyperpigmentation in seven (33.3%) patients and hypopigmentation in three (14.2%). Minor oral erosions were observed in three (14.2%) patients, and palmoplantar erythema was seen in four (19.04%). It is essential for dermatologists to understand the Stevens-Johnson syndrome and toxic epidermal necrolysis-like presentation of chikungunya and not to misinterpret it as true Stevens-Johnson syndrome and toxic epidermal necrolysis, which will lead to unnecessary intervention and management. © 2018 Wiley Periodicals, Inc.

  16. Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive.

    Science.gov (United States)

    Posey, Jennifer E; Mohrbacher, Nikki; Smith, Janice L; Patel, Ankita; Potocki, Lorraine; Breman, Amy M

    2016-03-01

    Triploid mosaicism is a rare aneuploidy syndrome characterized by growth retardation, developmental delay, 3-4 syndactyly, microphthalmia, coloboma, cleft lip and/or palate, genitourinary anomalies, and facial or body asymmetry. In the present report, we describe a 3-month-old female presenting with failure to thrive, growth retardation, and developmental delay. A chromosomal microarray demonstrated monosomy X, but her atypical phenotype prompted further evaluation with a chromosome analysis, which demonstrated 45,X/68,XX mixoploidy. To our knowledge, this is the first report of a patient with this chromosome complement. Mosaicism in chromosomal aneuploidies is likely under-recognized and may obscure the clinical diagnosis. At a time when comparative genomic hybridization and genome sequencing are increasingly used as diagnostic tools, this report highlights the clinical utility of chromosome analysis when a molecular diagnosis is not consistent with the observed phenotype. © 2015 Wiley Periodicals, Inc.

  17. [Complex cyanotic heart defect in a newborn infant with cat eye syndrome].

    Science.gov (United States)

    Paul, T; Reimer, A; Wilken, M; Miller, K; Kallfelz, H C

    1991-04-01

    In a cyanotic newborn with characteristic features of Cat-Eye-Syndrome, cytogenetic examination disclosed a supernumerary small bisatellited chromosome. Angiography showed Tetralogy of Fallot with pulmonary atresia and a narrow patent ductus arteriosus with additional stenosis of the bifurcation of the pulmonary artery. At an age of 14 weeks, the patient died after the attempt of corrective cardiac surgery. Congenital cardiac malformation is present in more than one third of patients with cat-eye-syndrome and is usually the lifelimiting malformation in this syndrome.

  18. [Prader-Willi syndrome. Presentation of a case].

    Science.gov (United States)

    Muñoz-Domingo, Elena; Montilla-Pérez, Manuel; Muñoz-Lomas, Fernando; Jiménez Vaquero, César

    2013-01-01

    We report the case of a term infant of 39+1, born by emergency cesarean section due to suspected fetal distress with an Apgar test 4/6/8 and axial hypotonia with weak reflexes. After 52 days of hospitalization an individualized care plan was developed and applied based on Marjory Gordon's functional patterns model and NANDA domains. We used the NANDA diagnoses, interventions according to nursing interventions classification (NIC), and the expected results as classified by nursing outcomes (NOC). Through the care plan, the identified diagnoses and potential complications were resolved. Progress was slow but favorable, stimulating sucking and achieving a good breastfeeding latch, with an appropriate weight gain, decreased muscle stiffness, and increased response to stimuli. Copyright © 2013 Elsevier España, S.L. All rights reserved.

  19. Cerebral sinus thrombosis in an infant with Prader-Willi syndrome and literature review

    Directory of Open Access Journals (Sweden)

    Ilias Chatziioannidis

    2013-04-01

    Full Text Available A full-term male neonate from a first pregnancy of two clinical non-consanguineous parents was born at 40 weeks of gestation with cesarean section. He was admitted at 2 hours of life to our III level Neonatal Intensive Care Unit due to generalized hypotonia, presenting at birth. Cerebral ultrasound showed a temporal bilateral aspecific alteration of the parenchimal echogenicity, whereas a magnetic resonance imaging/venography revealed an extensive cerebral sinus thrombus. Extensive diagnostic studies for prothrombotic disorders showed negative results, even if there was an alterated haemostatic screening. Persistency of hypotonia led us to investigate Prader-Willi syndrome among others. Methylation analysis confirmed the diagnosis. This is the third report associating cerebral venous thrombosis and Prader-Willi syndrome, confirming sinus thrombosis as a possible presentation of this syndrome. A review of the literature is provided in order to disclose possible similarities and differences in Prader-Willi syndrome patients with cerebral sinovenus thrombosis.

  20. A Rare Presentation of the Klinefelter’s Syndrome

    OpenAIRE

    Hezarkhani, Sharabeh; Moujerloo, Mohammad; Sedighi, Sima; Taheri, Negar Sadat

    2012-01-01

    A 16 years old boy with Chronic Renal Failure (CRF) was not suspected of having Klinefelter’s syndrome until he complained of painful gynecomastia. He was under haemodialysis for 2 years. At first, he was in an approximately full pubertal development (P5, G5), but he had a small and a firm testis (length 2.2cm) and some degree of facial male pattern hair. He also had a decreased upper to lower body segment ratio and despite having chronic renal failure, he was taller than his parents and sibl...

  1. Fatal Cytomegalovirus Gastrointestinal Disease in an Infant with Wiskott-Aldrich Syndrome

    Directory of Open Access Journals (Sweden)

    Kuan-Ying Huang

    2008-01-01

    Full Text Available Although most cytomegalovirus (CMV infections are asymptomatic or cause only mild disease, the virus can cause serious disease and even mortality in immunocompromised children. In patients with WiskottAldrich syndrome (WAS, recurrent CMV infection is infrequently seen. A 3-month-old male infant was referred to Chang Gung Children's Hospital due to persistent thrombocytopenia and intermittent tachypnea. WAS complicated with CMV pneumonitis was diagnosed subsequently. He was discharged at the age of 7 months after a complete course of antiviral treatment. Unfortunately, refractory hemorrhagic gastritis developed later and recurred in spite of antiviral treatment and intravenous immunoglobulin. The patient died of recurrent gastrointestinal bleeding at the age of 23 months. This observation indicates that a case of WAS complicated with CMV gastrointestinal disease may need more vigorous treatment.

  2. Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome.

    Science.gov (United States)

    McPherson, E W; Laneri, G; Clemens, M M; Kochmar, S J; Surti, U

    1997-09-05

    Coffin-Siris syndrome is a multiple anomaly/mental retardation syndrome characterized by "coarse" facial appearance, hypoplastic or absent nails on the fifth digits, generalized hirsutism with sparse scalp hair, hypotonia, and developmental delay. Due to several reports of affected sibs with or without a mildly affected parent, both autosomal recessive and autosomal dominant inheritance have been suggested. All previous patients with well-documented Coffin-Siris syndrome are chromosomally normal, and the gene has not been mapped. We report on an infant with typical findings of Coffin-Siris syndrome who also has a de novo apparently balanced translocation of chromosomes 1 and 7, karyotype 46,XY,t(1;7)(q21.3;q34). The parental chromosomes are normal and none of the relatives have signs of Coffin-Siris syndrome. The breakpoints 1q21.3 and 7q34 are suggested as possible locations for a Coffin-Siris gene.

  3. Microglia modulate brainstem serotonergic expression following neonatal sustained hypoxia exposure: implications for sudden infant death syndrome.

    Science.gov (United States)

    MacFarlane, P M; Mayer, C A; Litvin, D G

    2016-06-01

    Neonatal sustained hypoxia exposure modifies brainstem microglia and serotonin expression. The altered brainstem neurochemistry is associated with impaired ventilatory responses to acute hypoxia and mortality. The deleterious effects of sustained hypoxia exposure can be prevented by an inhibitor of activated microglia. These observations demonstrate a potential cause of the brainstem serotonin abnormalities thought to be involved in sudden infant death syndrome. We showed previously that the end of the second postnatal week (days P11-15) represents a period of development during which the respiratory neural control system exhibits a heightened vulnerability to sustained hypoxia (SH, 11% O2 , 5 days) exposure. In the current study, we investigated whether the vulnerability to SH during the same developmental time period is associated with changes in brainstem serotonin (5-HT) expression and whether it can be prevented by the microglia inhibitor minocycline. Using whole-body plethysmography, SH attenuated the acute (5 min) hypoxic ventilatory response (HVR) and caused a high incidence of mortality compared to normoxia rats. SH also increased microglia cell numbers and decreased 5-HT immunoreactivity in the nucleus of the solitary tract (nTS) and dorsal motor nucleus of the vagus (DMNV). The attenuated HVR, mortality, and changes in nTS and DMNV immunoreactivity was prevented by minocycline (25 mg kg(-1) /2 days during SH). These data demonstrate that the 5-HT abnormalities in distinct respiratory neural control regions can be initiated by prolonged hypoxia exposure and may be modulated by microglia activity. These observations share several commonalities with the risk factors thought to underlie the aetiology of sudden infant death syndrome, including: (1) a vulnerable neonate; (2) a critical period of development; (3) evidence of hypoxia; (4) brainstem gliosis (particularly the nTS and DMNV); and (5) 5-HT abnormalities. © 2015 The Authors. The Journal of

  4. Cornelia de Lange syndrome due to mosaic NIPBL mutation: antenatal presentation with sacrococcygeal teratoma.

    Science.gov (United States)

    Banait, Nishant; Fenton, Alan; Splitt, Miranda

    2015-08-14

    A male infant at 36 weeks gestation was born by section. At 20 weeks of gestation, congenital diaphragmatic hernia and sacrococcygeal teratoma had been seen on ultrasound. At birth, the infant had features suggestive of Cornelia de Lange syndrome (CdLS). He remained hypoxic despite aggressive ventilatory manoeuvres and was palliated. At postmortem, the lungs were hypoplastic. In CdLS, mutations in NIPBL are found in around 50% of cases. Mutation analysis, including multiplex ligation dependent probe amplification of the NIPBL gene from the DNA extracted from peripheral blood lymphocytes was negative, but microarray comparative genomic hybridisation on DNA from skin fibroblast showed a 0.13Mb deletion on chromosome 5p13. The deleted region includes exons 42-47 of the NIPBL gene. It is important to perform NIBPL mutation analysis on DNA from more than one tissue when testing for CdLS. 2015 BMJ Publishing Group Ltd.

  5. Eight-and-a-half syndrome as presenting sign of childhood multiple sclerosis

    DEFF Research Database (Denmark)

    Mortzos, Panteleimon; Nordling, Mette Maria; Sørensen, Torben Lykke

    2014-01-01

    We present a case of a 12-year-old boy with eight-and-a-half syndrome that consequently proved to be a sign of childhood multiple sclerosis.......We present a case of a 12-year-old boy with eight-and-a-half syndrome that consequently proved to be a sign of childhood multiple sclerosis....

  6. Clinical presentation of Attenuated Psychosis Syndrome in children and adolescents : Is there an age effect?

    NARCIS (Netherlands)

    Ribolsi, Michele; Lin, Ashleigh; Wardenaar, Klaas J.; Pontillo, Maria; Mazzone, Luigi; Vicari, Stefano; Armando, Marco

    There is limited research on clinical features related to age of presentation of the Attenuated Psychosis Syndrome in children and adolescents (CAD). Based on findings in CAD with psychosis, we hypothesized that an older age at presentation of Attenuated Psychosis Syndrome would be associated with

  7. Staphylococcal toxic shock syndrome presenting as acute respiratory distress and cor pulmonale.

    Science.gov (United States)

    Zaki, S A; Shanbag, P; Chavan, V; Shenoy, P

    2010-01-01

    We describe a 7-year-old boy with staphylococcal toxic shock syndrome who presented with acute respiratory distress and cor pulmonale. We wish to highlight this unusual presentation as the diagnosis of toxic shock syndrome depends chiefly on a high degree of clinical suspicion. Early diagnosis and prompt institution of appropriate therapy will significantly reduce morbidity and mortality.

  8. Acute renal failure: A rare presentation of Sheehan′s syndrome

    Directory of Open Access Journals (Sweden)

    Manzoor A Bhat

    2012-01-01

    Full Text Available Sheehan′s syndrome occurs as a result of ischemic pituitary necrosis secondary to severe postpartum bleeding. It is one of the most common causes of hypopituitarism, characterized by variable clinical presentation. Acute kidney injury occurs rarely in Sheehan′s syndrome and most of the cases have been found to be precipitated by rhabdomyolysis. We here present a case of Sheehan′s syndrome with acute kidney injury where theprecipitating cause was chronic hypocortisolemia. We believe this is the first reported case of Sheehan′s syndrome in which acute kidney injury was precipitated by adrenal insufficiency.

  9. Chédiak-Higashi syndrome: presentation of seven cases

    Directory of Open Access Journals (Sweden)

    Eugénia Maria Grilo Carnide

    Full Text Available CONTEXT: Chédiak-Higashi Syndrome (CHS is a rare autosomal recessive disease characterized by recurrent infections, giant cytoplasmic granules, and oculocutaneous albinism. OBJECTIVE: To describe clinical and laboratory findings from CHS patients. DESIGN: Case report. SETTING: The patients were admitted into the Allergy and Immunology Unit of the Instituto da Criança, a tertiary public care institution. CASES REPORT: Seven patients had oculocutaneous albinism, recurrent infections and giant cytoplasmic granules in the leukocytes. One patient had low IgG levels and three showed impaired bactericidal activity of neutrophils. Six patients died of infectious complications during the accelerated phase. Therapy included ascorbic acid and antibiotics. Chemotherapy was used for the accelerated phase in two patients. Bone marrow transplantation (BMT was proposed for one patient. DISCUSSION: The authors emphasize the need for early diagnosis and therapy of CHS. BMT should be indicated before the accelerated phase of the disease has developed.

  10. SAPHO syndrome presenting as an osteolytic lesion of the neck.

    Science.gov (United States)

    Mateo, Lourdes; Sanint, Juana; Rodríguez Muguruza, Samantha; Martínez Morillo, Melania; Pérez Andrés, Ricard; Domenech Puigcerver, Sira

    We report a case of acute-onset multifocal vertebral osteitis with a marked impact on the patient's general health. The radiological, scintigraphic and magnetic resonance findings made it necessary to carry out a differential diagnosis to distinguish it from an infiltrative neoplastic process and determine whether it had an infectious or an inflammatory etiology. The presence of noninfectious multifocal osteitis and sternoclavicular arthritis and the subsequent development of plantar pustulosis pointed to SAPHO syndrome. Treatment with infliximab led to improvement in the clinical symptoms, laboratory values and radiological abnormalities. Copyright © 2015 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  11. Evans syndrome and systemic lupus erythematosus: clinical presentation and outcome.

    Science.gov (United States)

    Costallat, Guilherme Lavras; Appenzeller, Simone; Costallat, Lilian Tereza Lavras

    2012-07-01

    To review the clinical, laboratory and outcome features of Evans syndrome (ES) in systemic lupus erythematosus (SLE) patients. We reviewed the charts of 953 SLE patients followed up regularly at our service. ES was defined as the presence of hemolytic anemia and thrombocytopenia concomitantly or sequentially. Clinical and laboratory manifestations occurring during the disease course, as well as concomitant diseases and survival was carefully reviewed. We identified ES in 26 of 953 (2.7%) SLE patients. Twenty-three were women with mean age at SLE diagnosis of 25.7 years. Four (15%) patients had disease onset before the age of 16. In the majority of patients (92%), immune thrombocytopenia and AIHA appeared simultaneously at the beginning of SLE. Active features of SLE were a frequent finding concomitant to ES, especially arthritis (77%), malar rash (61.5%), photosensitivity (57.6%), oral ulcers (34.6%), nephritis (73%), serositis (54%), neuropsychiatric (19%) and pulmonary (15%) manifestations. In addition to this multisystemic disease, 34.6% of our patients had an association with another autoimmune disease such as antiphospholipid syndrome. Recurrence of ES was observed in only four (15%) patients. After follow-up time of 8.72 years, 19 patients (73%) were in remission and seven (27%) patients died. ES is a rare manifestation in SLE, occurring in patients with severe multisystemic SLE manifestations. Treatment strategies frequently used in SLE contribute to longer disease remission and less frequent exacerbation than observed in the general population with ES. Copyright © 2011 Société française de rhumatologie. Published by Elsevier SAS. All rights reserved.

  12. Clinical presentation of Attenuated Psychosis Syndrome in children and adolescents: Is there an age effect?

    Science.gov (United States)

    Ribolsi, Michele; Lin, Ashleigh; Wardenaar, Klaas J; Pontillo, Maria; Mazzone, Luigi; Vicari, Stefano; Armando, Marco

    2017-06-01

    There is limited research on clinical features related to age of presentation of the Attenuated Psychosis Syndrome in children and adolescents (CAD). Based on findings in CAD with psychosis, we hypothesized that an older age at presentation of Attenuated Psychosis Syndrome would be associated with less severe symptoms and better psychosocial functioning than presentation in childhood or younger adolescence. Ninety-four CAD (age 9-18) meeting Attenuated Psychosis Syndrome criteria participated in the study. The sample was divided and compared according to the age of presentation of Attenuated Psychosis Syndrome (9-14 vs 15-18 years). The predictive value of age of Attenuated Psychosis Syndrome presentation was investigated using receiver operating characteristic (ROC)-curve calculations. The two Attenuated Psychosis Syndrome groups were homogeneous in terms of gender distribution, IQ scores and comorbid diagnoses. Older Attenuated Psychosis Syndrome patients showed better functioning and lower depressive scores. ROC curves revealed that severity of functional impairment was best predicted using an age of presentation cut-off of 14.9 years for social functioning and 15.9 years for role functioning. This study partially confirmed our hypothesis; older age at presentation of Attenuated Psychosis Syndrome was associated with less functional impairment, but age was not associated with psychotic symptoms. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

  13. Overweight and obese infants present lower cognitive and motor development scores than normal-weight peers.

    Science.gov (United States)

    Camargos, Ana Cristina Resende; Mendonça, Vanessa Amaral; Andrade, Camila Alves de; Oliveira, Katherine Simone Caires; Lacerda, Ana Cristina Rodrigues

    2016-12-01

    Compare the cognitive and motor development in overweight/obese infants versus normal-weight peers and investigate the correlation of body weight, body length and body mass index with cognitive and motor development. We conducted a cross-sectional study with 28 overweight/obese infants and 28 normal-weight peers between 6 and 24 months of age. Both groups were evaluated with cognitive and motor scales of the Bayley-III infant development test. The t-test for independent samples was performed to compare the groups, and the Spearman correlation was used to verify the association between variables. Overweight/obese infants showed lower cognitive and motor composite scores than their normal-weight peers. A significant negative association was found of body weight and body length with cognitive development and of body mass index with motor development. This is the first study that found an effect on both cognitive and motor development in overweight/obese infants when compared with normal-weight peers between 6 and 24 months of age. Copyright © 2016 Elsevier Ltd. All rights reserved.

  14. Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome

    OpenAIRE

    Jedraszak, Guillaume; Receveur, Aline; Andrieux, Joris; Mathieu-Dramard, Michèle; Copin, Henri; Morin, Gilles

    2015-01-01

    Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma. Many reported cases also presented with variable congenital anomalies and intellectual disability. Most patients diagnosed with CES carry a small supernumerary bisatellited marker chromosome, resulting in partial tetrasomy of 22p-22q11.21. There are two types of small supernumerary marker chrom...

  15. Pediatric posterior reversible encephalopathy syndrome presenting with isolated cerebellar edema and obstructive hydrocephalus.

    Science.gov (United States)

    Ettinger, Nicholas; Pearson, Matthew; Lamb, Fred S; Wellons, John C

    2014-10-01

    In this report, the authors describe the case of a teenage boy who presented with hypertensive emergency, posterior reversible encephalopathy syndrome, and hydrocephalus due to fourth ventricle outlet obstruction. Posterior reversible encephalopathy syndrome is a well-characterized but uncommon syndrome in children that is generally triggered by severe hypertension. The unusual clinical picture of this patient, who had isolated cerebellar edema leading to obstructive hydrocephalus, has been rarely described in children.

  16. Pancoast syndrome: A rare presentation of non-Hodgkin′s lymphoma

    Directory of Open Access Journals (Sweden)

    Anirban Sarkar

    2013-01-01

    Full Text Available Pancoast syndrome is a common presentation of bronchogenic carcinoma, but other malignancies are rarely cited as its cause. Pancoast syndrome due to non-Hodgkin′s lymphoma is rarely described in the literature. Here, we report a case of Pancoast syndrome due to non-Hodgkin′s lymphoma to increase the awareness of the clinicians regarding essentiality of tissue diagnosis of Pancoast tumor before starting the treatment.

  17. The frequency of a disease-causing point mutation in the gene coding for medium-chain acyl-CoA dehydrogenase in sudden infant death syndrome

    DEFF Research Database (Denmark)

    Banner, Jytte; Gregersen, N; Kølvraa, S

    1993-01-01

    syndrome is still a matter of controversy. The present study investigated 120 well-defined cases of sudden infant death syndrome in order to detect the frequency of the most common disease-causing point mutation in the gene coding for medium-chain acyl-CoA dehydrogenase (G985) compared with the frequency...... in the general population. A highly specific polymerase chain reaction assay was applied on dried blood spots. No over-representation of homo- or heterozygosity for G985 appears to exist in such a strictly defined population, for which reason it may be more relevant to look at a broader spectrum of clinical...... presentations of inherited metabolic disorders and examine a wider range of sudden death in infancy....

  18. Congenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and Future

    Directory of Open Access Journals (Sweden)

    Soo-Hyun Kim

    2015-12-01

    Full Text Available The proper development and coordination of the hypothalamic-pituitary-gonadal (HPG axis are essential for normal reproductive competence. The key factor that regulates the function of the HPG axis is gonadotrophin-releasing hormone (GnRH. Timely release of GnRH is critical for the onset of puberty and subsequent sexual maturation. Misregulation in this system can result in delayed or absent puberty and infertility. Congenital hypogonadotropic hypogonadism (CHH and Kallmann syndrome (KS are genetic disorders that are rooted in a GnRH deficiency but often accompanied by a variety of non-reproductive phenotypes such as the loss of the sense of smell and defects of the skeleton, eye, ear, kidney, and heart. Recent progress in DNA sequencing technology has produced a wealth of information regarding the genetic makeup of CHH and KS patients and revealed the resilient yet complex nature of the human reproductive neuroendocrine system. Further research on the molecular basis of the disease and the diverse signal pathways involved will aid in improving the diagnosis, treatment, and management of CHH and KS patients as well as in developing more precise genetic screening and counseling regime.

  19. Congenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and Future

    Science.gov (United States)

    2015-01-01

    The proper development and coordination of the hypothalamic-pituitary-gonadal (HPG) axis are essential for normal reproductive competence. The key factor that regulates the function of the HPG axis is gonadotrophin-releasing hormone (GnRH). Timely release of GnRH is critical for the onset of puberty and subsequent sexual maturation. Misregulation in this system can result in delayed or absent puberty and infertility. Congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS) are genetic disorders that are rooted in a GnRH deficiency but often accompanied by a variety of non-reproductive phenotypes such as the loss of the sense of smell and defects of the skeleton, eye, ear, kidney, and heart. Recent progress in DNA sequencing technology has produced a wealth of information regarding the genetic makeup of CHH and KS patients and revealed the resilient yet complex nature of the human reproductive neuroendocrine system. Further research on the molecular basis of the disease and the diverse signal pathways involved will aid in improving the diagnosis, treatment, and management of CHH and KS patients as well as in developing more precise genetic screening and counseling regime. PMID:26790381

  20. Wolf-Hirschhorn syndrome presenting with cardiac manifestations at birth

    Directory of Open Access Journals (Sweden)

    Sudhir D Malwade

    2016-01-01

    Full Text Available Wolf–Hirschhorn syndrome (WHS is a condition of developmental delay and dysmorphology caused by a deletion of short arm of chromosome 4. The main characteristics of WHS are intra and extrauterine growth retardation, mental retardation with typical facial dysmorphism, microcephaly, and midline fusion defects. The diagnosis is based on clinical features and chromosomal analysis, e.g., microsatellite analysis or molecular cytogenetic techniques and fluorescence in situ hybridization (FISH to detect the deletion. Prenatal diagnosis is possible by FISH. Though no specific treatment is available, supportive management can be fruitful. Here, we describe a female baby with a 4p deletion, who had the majority of the main phenotypic features of WHS and severe congenital heart disease manifesting at birth. The case emphasized that any fetus with intrauterine growth retardation, dysmorphic features on antenatal scan, and midline defects should raise a suspicion of WHS. Conventional cytogenetic studies can miss the diagnosis; hence, these cases should be further investigated using molecular cytogenetic techniques such as FISH or array-comparative genomic hybridization.

  1. Cardiovocal syndrome – A rare presentation of primary pulmonary hypertension

    Directory of Open Access Journals (Sweden)

    Om Shankar

    2014-05-01

    Full Text Available Primary pulmonary hypertension is a well known entity with characteristic features more common in females presenting commonly with dyspnea. However primary pulmonary hypertension presenting as hoarseness of voice is rare occurring most likely due to compression of left recurrent laryngeal nerve between normal aorta and dilated tense pulmonary artery. Here we are presenting a case of 19 year old boy with primary pulmonary hypertension who presented with hoarseness of voice as predominant symptom.

  2. Neonatology oxidative status in preterm infants with premature preterm rupture of membranes and fetal inflammatuar response syndrome.

    Science.gov (United States)

    Özalkaya, Elif; Karatekin, Güner; Topçuoğlu, Sevilay; Karatepe, Hande Özgün; Hafızoğlu, Taner; Baran, Pervin; Ovalı, Fahri

    2017-10-01

    The aim of this study, to determine an index of oxidative stress index in preterm infants less than 34 weeks gestational age with premature preterm rupture of membrane (PPROM) and fetal inflammatory response syndrome (FIRS). This study was designed as a prospective study. Fifty-one premature infants less than 35 weeks of gestational age were included in the study. The umbilical cord blood concentrations of IL-6, TAC (total antioxidant capacity) and PON-1 (paraoxonase-1) levels and TOS (total oxidative stress) were studied. The oxidative stress index (OSI = TAC/TOS) was calculated in all of prematüre infants. PPROM was defined as rupture of membranes at least 24 hours before the onset of labor. FIRS was defined by an umbilical cord IL-6 level greater than 11 pg/mL. Premature infants included in the study were divided into 4 groups. Group 1 included preterm infants without FIRS and with PPROM (n = 16), while Group 2 included preterm infants without PPROM and with FIRS (n = 9), Group 3 consisted of premature infants with PPROM and FIRS (n = 21) and Group 4 included premature infants without PPROM or FIRS (n = 5). Umbilical cord TOS level was found to be higher in the preterm infants without FIRS and with PPROM (36.1 μmol H 2 O 2 Equiv./L) compared to the preterm infants without PPROM or FIRS (11.9 μmol H 2 O 2 Equiv./L) (p = 0.03). Umbilical cord PON-1 level was found to be lower in the preterms without FIRS and with PPROM (32 U/L), preterms without PPROM and with FIRS (30. 3 U/L) and the preterm infants with both PPROM and FIRS (48.6 U/L) compared to the preterm infants having no PPROM or FIRS (85.6 U/L) (p = 0.001). High pro-oxidant capacity was found in PPROM and low antioxidant capacity in PPROM and FIRS. Copyright © 2017. Published by Elsevier B.V.

  3. Absinthism: a fictitious 19th century syndrome with present impact

    Directory of Open Access Journals (Sweden)

    Lachenmeier Dirk W

    2006-05-01

    Full Text Available Abstract Absinthe, a bitter spirit containing wormwood (Artemisia absinthium L., was banned at the beginning of the 20th century as consequence of its supposed unique adverse effects. After nearly century-long prohibition, absinthe has seen a resurgence after recent de-restriction in many European countries. This review provides information on the history of absinthe and one of its constituent, thujone. Medical and toxicological aspects experienced and discovered before the prohibition of absinthe are discussed in detail, along with their impact on the current situation. The only consistent conclusion that can be drawn from those 19th century studies about absinthism is that wormwood oil but not absinthe is a potent agent to cause seizures. Neither can it be concluded that the beverage itself was epileptogenic nor that the so-called absinthism can exactly be distinguished as a distinct syndrome from chronic alcoholism. The theory of a previous gross overestimation of the thujone content of absinthe may have been verified by a number of independent studies. Based on the current available evidence, thujone concentrations of both pre-ban and modern absinthes may not have been able to cause detrimental health effects other than those encountered in common alcoholism. Today, a questionable tendency of absinthe manufacturers can be ascertained that use the ancient theories of absinthism as a targeted marketing strategy to bring absinthe into the spheres of a legal drug-of-abuse. Misleading advertisements of aphrodisiac or psychotropic effects of absinthe try to re-establish absinthe's former reputation. In distinction from commercially manufactured absinthes with limited thujone content, a health risk to consumers is the uncontrolled trade of potentially unsafe herbal products such as absinthe essences that are readily available over the internet.

  4. Absinthism: a fictitious 19th century syndrome with present impact.

    Science.gov (United States)

    Padosch, Stephan A; Lachenmeier, Dirk W; Kröner, Lars U

    2006-05-10

    Absinthe, a bitter spirit containing wormwood (Artemisia absinthium L.), was banned at the beginning of the 20th century as consequence of its supposed unique adverse effects. After nearly century-long prohibition, absinthe has seen a resurgence after recent de-restriction in many European countries. This review provides information on the history of absinthe and one of its constituent, thujone. Medical and toxicological aspects experienced and discovered before the prohibition of absinthe are discussed in detail, along with their impact on the current situation. The only consistent conclusion that can be drawn from those 19th century studies about absinthism is that wormwood oil but not absinthe is a potent agent to cause seizures. Neither can it be concluded that the beverage itself was epileptogenic nor that the so-called absinthism can exactly be distinguished as a distinct syndrome from chronic alcoholism.The theory of a previous gross overestimation of the thujone content of absinthe may have been verified by a number of independent studies. Based on the current available evidence, thujone concentrations of both pre-ban and modern absinthes may not have been able to cause detrimental health effects other than those encountered in common alcoholism. Today, a questionable tendency of absinthe manufacturers can be ascertained that use the ancient theories of absinthism as a targeted marketing strategy to bring absinthe into the spheres of a legal drug-of-abuse. Misleading advertisements of aphrodisiac or psychotropic effects of absinthe try to re-establish absinthe's former reputation. In distinction from commercially manufactured absinthes with limited thujone content, a health risk to consumers is the uncontrolled trade of potentially unsafe herbal products such as absinthe essences that are readily available over the internet.

  5. A preterm infant with intractable metabolic acidosis: a devastating presentation of Chryseobacterium meningosepticum meningitis.

    Science.gov (United States)

    Eroğlu-Ertuğrul, Nesibe; Sürmeli-Onay, Özge; Yurdakök, Murat

    2014-01-01

    Sepsis-related mortality and morbidity are the leading issues that neonatal intensive care units struggle with worldwide. We report a preterm infant with septic shock and intractable metabolic acidosis whose postmortem microbiologic examination revealed Chryseobacterium meningosepticum meningitis. We would like to alert clinicians about this uncommon sepsis agent, and to call into question the treatment modalities for metabolic acidosis.

  6. Unusual presentation of Sturge-Weber syndrome: Progressive megalencephaly with bilateral cutaneous and cortical involvement

    Directory of Open Access Journals (Sweden)

    Kundan Mittal

    2014-01-01

    Full Text Available The Sturge Weber syndrome is characterized by developmental delay, seizures in infancy, unilateral cutaneous lesions with ipsilateral leptomeningeal enhancement. We report an unusual presentation of Sturge Weber syndrome with bilateral port wine nevus on the trunk and face along with bilateral cortical involvement in a developmentally normal child with progressive megalencephaly.

  7. Bartter syndrome Type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation

    NARCIS (Netherlands)

    Westland, R.; Hack, W.W.; van der Horst, H.J.; Uittenbogaard, L.B.; van Hagen, J.M.; van der Valk, P.; Kamsteeg, E.J.; Heuvel, L.P.W.J. van den; van Wijk, J.A.

    2012-01-01

    Bartter syndrome encompasses a variety of inheritable renal tubular transport disorders characterized by hypokalemia and hypochloremic metabolic alkalosis. Bartter syndrome Type III is caused by genetic alterations in the chloride channel kidney B (CLCNKB) gene and often presents in the first 2

  8. Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors

    Directory of Open Access Journals (Sweden)

    Lindor Noralane M

    2012-10-01

    Full Text Available Abstract Mutations in FLCN cause Birt-Hogg-Dubé syndrome, an autosomal dominant disorder notable for development of cutaneous fibrofolliculomas or trichodiscomas, a variety of renal tumors, and spontaneous pneumothorax due to cystic lung changes. We present a woman referred for genetic evaluation due to bilateral parotid gland tumors, who was subsequently diagnosed with Birt-Hogg-Dubé syndrome.

  9. [Feeding disorders, ALTE syndrome, Sandifer syndrome and gastroesophageal reflux disease in the course of food hypersensitivity in 8-month old infant].

    Science.gov (United States)

    Iwańczak, Barbara; Mowszet, Krystyna; Iwańczak, Franciszek

    2010-07-01

    This paper describes the occurrence of feeding disorders, atopic dermatitis, life-threatening symptoms, Sandifer syndrome, and gastroesophageal reflux disease in 8-month old infant in the course of food hypersensitivity. Used in the treatment of cow's milk protein hydrolysates with a considerable degree of hydrolysis, omeprazole, Cisapride. It was not until the introduction of elemental diet based on free amino acids resulted in the withdrawal of life-threatening child's symptoms.

  10. Cauda equina syndrome as the initial presenting clinical feature of medulloblastoma: a case report

    Directory of Open Access Journals (Sweden)

    Al-Otaibi Faisal

    2012-05-01

    Full Text Available Abstract Introduction Medulloblastoma is one of the most common pediatric brain malignancies. The usual presenting clinical features are related to posterior fossa syndrome or/and hydrocephalus. Cauda equina syndrome is a very rare presentation for this disease. Case presentation We describe the case of a three-year-old boy with cauda equina syndrome as the initial presenting clinical feature for medulloblastoma. He was initially diagnosed as having a spinal tumor by magnetic resonance imaging scan. Subsequently, a cranial magnetic resonance imaging scan revealed a posterior fossa tumor with features of dissemination. He had substantial improvement after treatment. This case report is complemented by a literature review related to this unusual presentation. Conclusions Medulloblastoma primarily presenting with cauda equina syndrome is very rare. However, spinal drop metastasis should be considered in the pediatric age group to avoid suboptimal management.

  11. Bronchiolitis obliterans syndrome: thin-section CT diagnosis of obstructive changes in infants and young children after lung transplantation.

    Science.gov (United States)

    Lau, D M; Siegel, M J; Hildebolt, C F; Cohen, A H

    1998-09-01

    To characterize the thin-section computed tomographic (CT) appearance of bronchiolitis fibrosa obliterans syndrome in infants and young children after lung transplantation. Thin-section CT studies in six patients with bronchiolitis obliterans syndrome (age range, 2 months to 5 1/2 years) and in 15 control patients without obstructive airway disease (age range, 2 months to 7 years) who underwent bilateral lung transplantation were retrospectively reviewed. The thin-section CT scans were obtained during quiet sleep at a median of 24 months (range, 6-36 months) after transplantation. The CT studies were evaluated for mosaic perfusion, bronchial dilatation, bronchial wall thickening, and mucous plugging Final diagnoses in all patients were based pulmonary function test results. Thin-section CT findings in the six patients with clinically proved bronchiolitis obliterans syndrome were mosaic perfusion in five (83%) bronchial dilation in three (50%), and bronchial wall thickening in one (17%). Of the 15 control patients with normal pulmonary function test results, six (40%) had mosaic perfusion; none had bronchial dilatation or bronchial wall thickening. Mucous plugging was not seen in either group. Only the association of bronchial dilatation with bronchiolitis obliterans syndrome was significant (P = .02). Infants and young children with bronchiolitis obliterans syndrome after lung transplantation are more likely to have CT abnormalities than those with normal pulmonary function test results.

  12. Unusual presentation of adult Marfan syndrome as a complex diaphragmatic hiatus hernia.

    Science.gov (United States)

    Thakur, Shruti; Jhobta, Anupam; Sharma, Brij; Chauhan, Arun; Thakur, Charu S

    2017-07-01

    Marfan syndrome is multisystem connective tissue disorder that primarily involves the skeletal, cardiovascular, and ocular systems. The gastrointestinal complications in Marfan syndrome are rare, with only a few case reports described in the literature. We present a 25-year-old woman who presented with acute abdominal pain for 1 day. The imaging features revealed complex diaphragmatic hiatus hernia with organoaxial gastric volvulus. This is a unique case report about an adult patient with Marfan syndrome who presented with symptomatic paraesophageal hernia and organoaxial gastric volvulus. Copyright © 2014. Published by Elsevier Taiwan.

  13. Interactions of infectious symptoms and modifiable risk factors in sudden infant death syndrome. The Nordic Epidemiological SIDS study

    DEFF Research Database (Denmark)

    Helweg-Larsen, K; Banner, Jytte; Oyen, N

    1999-01-01

    The aim of the study was to investigate the effect of infection on sudden infant death syndrome (SIDS) and to analyse whether modifiable risk factors of SIDS, prone sleeping, covered head and smoking act as effect modifiers. In a consecutive multicentre case-control study of SIDS in Denmark, Norway......, prone sleeping, head covered or parental smoking, was far greater than the sum of each individual factor. These risk factors thus modify the dangerousness of infection in infancy....

  14. Altered mental status as a presentation of juvenile polyposis syndrome

    Directory of Open Access Journals (Sweden)

    Natasha Hansraj

    2015-12-01

    Full Text Available Juvenile polyposis coli (JPC is a rare hereditary disorder in which patients have multiple polyps in the gastrointestinal tract and present most commonly with hematochezia. We describe a 4-year-old with intermittent rectal prolapse presenting with altered mental status and headaches. JPC was diagnosed by the presence of multiple, pedunculated, colonic polyps on colonoscopy; his altered mental status resulted from cerebral venous sinus thrombosis. Although JPC is known to be associated with a protein losing enteropathy (PLE, this usually manifests as merely hypoalbuminemia and protein losses without major clinical sequelae. We present a rare complication of cerebral venous sinus thrombosis which highlights altered mental status as a rare presentation of JPC. To our knowledge, this is the first case report in the literature linking JPC, decreased protein S activity, a single mutation in the methylenetetrahydrofolate reductase gene and cerebral thrombosis.

  15. Prune belly syndrome associated with cloacal anomaly, patent urachal remnant, and omphalocele in a female infant.

    Science.gov (United States)

    Giuliani, Stefano; Vendryes, Christopher; Malhotra, Ajay; Shaul, Donald B; Anselmo, Dean M

    2010-11-01

    Prune belly syndrome (PBS), megacystis-microcolon-intestinal hypoperistalsis (MMIH), and omphalocele-exstrophy of the bladder-imperforate anus-spine abnormalities complex (OEIS) are rare congenital malformations of the newborn that lead to incomplete formation of the gastrointestinal and genitourinary tract systems. To date, incomplete mesodermal development is identified as the cause for all these complex genetic syndromes even if the etiology is still unknown. We present an original case sharing characteristics common to PBS, MMIH, and OEIS complex, without a clear inclination toward any particular one. This case hints toward a common pathway in the creation of the 3 syndromes. We hypothesize that they are a spectrum of malformations based on the time frame when the mesoderm fails to create a normal interaction between infraumbilical mesoderm, urorectal septum, lumbosacral somites in the formation of the abdominal wall and the genitourinary and lower gastrointestinal tracts. Published by Elsevier Inc.

  16. Studies on the prevention of respiratory distress syndrome of infants due to hyaline membrane disease with plasminogen.

    Science.gov (United States)

    Ambrus, C M; Choi, T S; Weintraub, D H; Eisenberg, B; Staub, H P; Courey, N G; Foote, R J; Goplerud, D; Moesch, R V; Ray, M; Bross, I D; Jung, O S; Mink, I B; Ambrus, J L

    1975-07-01

    Hyaline membrane disease (HMD) is leading single cause of death of newborn, premature infants. The "hyaline membranes" consist chiefly of fibrin. The clinical manifestation of HMD is the respiratory distress syndrome (RDS). Infants with RDS were treated with urokinase-activated human plasmin in a previous clinical trial. Survival rate was increased in the plasmin treated group as compared to the placebo recipients. However, cost and difficulty in the preparation of the enzyme made this treatment impractical. We, as well as others, have shown the premature infants lack serum plasminogen; thus they are unable to develop effective fibrinolysis and are defenseless against pulmonary fibrin deposition. Therefore, plamsinogen was tested as a possible preventive agent in RDS due to HMD. In a double blind, randomized study, infants between 1 and 2.5 kg birth weight received plasminogen or placebo shortly after birth, and were then followed for development of RDS. After 100 infants were entered into the study, the code was broken and results were evaluated to assure safety of the procedure. Among the 100 infants, 51 received placebo, 49 received plasminogen. Among the infants who received placebo, seven developed mild, and ten developed severe respiratory distress; of these ten, five died with histopathologically documented HMD. Two infants died from causes other than HMD. Among the 49 infants treated with plasminogen, 13 developed mild and three developed severe respiratory distress. There was no death due to HMD. Two deaths were due to other causes. Factors placing the infant at risk from HMD (degree of prematurity, sex, cesarean section, bleeding episodes during pregnancy, maternal diabetes) were found to be evenly distributed between control and treated groups. Since completing the first phase of the study, data of an additional 277 infants has become available. Although the code was not broken in this series, a preliminary look at mortality data in comparison with

  17. Evans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome

    Directory of Open Access Journals (Sweden)

    Gloria Colarusso

    2010-06-01

    Full Text Available We report a case of an 8-year-old male patient with Evans syndrome and severe hypogammaglobulinemia, subsequently in whom the 22q11.2 deletion syndrome (22q11.2 DS was diagnosed. No other clinical sign of 22q11.2 DS was present with the exception of slight facial dysmorphism. The case is of particular interest because it suggests the need to research chromosome 22q11.2 deletion in patients who present with autoimmune cytopenia and peculiar facial abnormalities, which could be an atypical presentation of an incomplete form of 22q11.2 DS.

  18. Quantitative Assessment of Microstructural Changes of the Retina in Infants With Congenital Zika Syndrome.

    Science.gov (United States)

    Aleman, Tomas S; Ventura, Camila V; Cavalcanti, Milena M; Serrano, Leona W; Traband, Anastasia; Nti, Akosua A; Gois, Adriana L; Bravo-Filho, Vasco; Martins, Thayze T; Nichols, Charles W; Maia, Mauricio; Belfort, Rubens

    2017-10-01

    A better pathophysiologic understanding of the neurodevelopmental abnormalities observed in neonates exposed in utero to Zika virus (ZIKV) is needed to develop treatments. The retina as an extension of the diencephalon accessible to in vivo microcopy with spectral-domain optical coherence tomography (SD-OCT) can provide an insight into the pathophysiology of congenital Zika syndrome (CZS). To quantify the microstructural changes of the retina in CZS and compare these changes with those of cobalamin C (cblC) deficiency, a disease with potential retinal maldevelopment. This case series included 8 infants with CZS and 8 individuals with cblC deficiency. All patients underwent ophthalmologic evaluation at 2 university teaching hospitals and SD-OCT imaging in at least 1 eye. Patients with cblC deficiency were homozygous or compound heterozygotes for mutations in the methylmalonic aciduria and homocystinuria type C (MMACHC) gene. Data were collected from January 1 to March 17, 2016, for patients with CZS and from May 4, 2015, to April 23, 2016, for patients with cblC deficiency. The SD-OCT cross-sections were segmented using automatic segmentation algorithms embedded in the SD-OCT systems. Each retinal layer thickness was measured at critical eccentricities using the position of the signal peaks and troughs on longitudinal reflectivity profiles. Eight infants with CZS (5 girls and 3 boys; age range, 3-5 months) and 8 patients with cblC deficiency (3 girls and 5 boys; age range, 4 months to 15 years) were included in the analysis. All 8 patients with CZS had foveal abnormalities in the analyzed eyes (8 eyes), including discontinuities of the ellipsoid zone, thinning of the central retina with increased backscatter, and severe structural disorganization, with 3 eyes showing macular pseudocolobomas. Pericentral retina with normal lamination showed a thinned (nuclear layer was normal or had borderline thinning. The central retinal degeneration was similar to that of cbl

  19. Unusual Presentation of the Conn's Syndrome: a Case Report

    Directory of Open Access Journals (Sweden)

    Maryam Al-Rajhi

    2011-11-01

    Full Text Available A 26 -year- old woman presented with rhabdomyolysis secondary to severe hypokalemia. Hypertension and metabolic alkalosis could lead to the suspicion of primary aldosteronism, which was confirmed by a decreased plasma rennin, elevated plasma aldosterone levels and high aldosterone/rennin ratio additionally. Additionally adrenal computed tomography showed an adrenal tumour. Blood pressure and hypokalemia returned to the normal level after adrenalectomy was performed. This case report highlights the need to be alert to the possibility of primary aldosteronism incidence in a patient presenting with rhabdomyolysis and hypertension caused by severe hypokalemia.

  20. Systemic sclerosis presenting as CREST syndrome: A case report ...

    African Journals Online (AJOL)

    Case report. A 31 years old female patient from senafe with remote history of systemic sclerosis and recurrent hospital admissions presented to the ED of Orotta hospital with shortness of breath and altered mental status. She had generalized body weakness, and dry cough associated with chest pain. She also complained.

  1. Mitochondrial DNA depletion syndrome presenting with ataxia and ...

    African Journals Online (AJOL)

    The patient presented to Cairo University Pediatric Hospital with the clinical suspicion of mitochondrial encephalomyopathy. Histochemical and biochemical studies of the respiratory chain complexes were performed on the muscle biopsy specimen from the patient. Molecular diagnosis was done by quantitative radioactive ...

  2. Severe psychomotor delay in a severe presentation of cat-eye syndrome.

    Science.gov (United States)

    Jedraszak, Guillaume; Receveur, Aline; Andrieux, Joris; Mathieu-Dramard, Michèle; Copin, Henri; Morin, Gilles

    2015-01-01

    Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma. Many reported cases also presented with variable congenital anomalies and intellectual disability. Most patients diagnosed with CES carry a small supernumerary bisatellited marker chromosome, resulting in partial tetrasomy of 22p-22q11.21. There are two types of small supernumerary marker chromosome, depending on the breakpoint site. In a very small proportion of cases, other cytogenetic anomalies are reportedly associated with the cat-eye syndrome phenotype. Here, we report a patient with cat-eye syndrome caused by a type 1 small supernumerary marker chromosome. The phenotype was atypical and included a severe developmental delay. The use of array comparative genomic hybridization ruled out the involvement of another chromosomal imbalance in the neurological phenotype. In the literature, only a few patients with cat-eye syndrome present with a severe developmental delay, and all of the latter carried an atypical partial trisomy 22 or an uncharacterized small supernumerary marker chromosome. Hence, this is the first report of a severe neurological phenotype in cat-eye syndrome with a typical type 1 small supernumerary marker chromosome. Our observation clearly complicates prognostic assessment, particularly when cat-eye syndrome is diagnosed prenatally.

  3. Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome

    Directory of Open Access Journals (Sweden)

    Guillaume Jedraszak

    2015-01-01

    Full Text Available Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma. Many reported cases also presented with variable congenital anomalies and intellectual disability. Most patients diagnosed with CES carry a small supernumerary bisatellited marker chromosome, resulting in partial tetrasomy of 22p-22q11.21. There are two types of small supernumerary marker chromosome, depending on the breakpoint site. In a very small proportion of cases, other cytogenetic anomalies are reportedly associated with the cat-eye syndrome phenotype. Here, we report a patient with cat-eye syndrome caused by a type 1 small supernumerary marker chromosome. The phenotype was atypical and included a severe developmental delay. The use of array comparative genomic hybridization ruled out the involvement of another chromosomal imbalance in the neurological phenotype. In the literature, only a few patients with cat-eye syndrome present with a severe developmental delay, and all of the latter carried an atypical partial trisomy 22 or an uncharacterized small supernumerary marker chromosome. Hence, this is the first report of a severe neurological phenotype in cat-eye syndrome with a typical type 1 small supernumerary marker chromosome. Our observation clearly complicates prognostic assessment, particularly when cat-eye syndrome is diagnosed prenatally.

  4. A Rare Presentation of Xanthogranulomatous Cholecystitis as Bouveret’s Syndrome

    Directory of Open Access Journals (Sweden)

    Ayşegül Solmaz Tuncer

    2012-01-01

    Full Text Available The purpose of this paper is to present sonographic and CT imaging findings of xanthogranulomatous cholecystitis (XGC presented as Bouveret’s syndrome, a very rare cause of gastric obstruction. While the patient’s physical examination, upper GI endoscopy, and radiological findings all pointed to Bouveret’s syndrome, CT differential diagnosis suggested either XGC or gallbladder carcinoma, and the final diagnosis was done histopathologically. Our paper aims to increase awareness in radiologically diagnosing XGC cases by introducing the possibility of existence of Bouveret’s syndrome.

  5. Swallow–Breath Interaction and Phase of Respiration with Swallow during Non-Nutritive Suck in Infants Affected by Neonatal Abstinence Syndrome

    Directory of Open Access Journals (Sweden)

    Eric W. Reynolds

    2017-10-01

    Full Text Available BackgroundThe development of suck–swallow–breath rhythms during non-nutritive suck (NNS may be an indicator of neurologic integrity. We have described swallow–breath (SwBr interaction and phase of respiration (POR with swallow during NNS in low-risk preterm (LRP infants. NNS in infants with neonatal abstinence syndrome (NAS has not been described with our method.MethodSuckle, swallow, thoracic motion, and nasal airflow were measured during NNS in 10 infants with NAS and 12 unaffected infants (control. Logistic regression models were fit to describe the three types of SwBr and five types of POR in terms of the independent variables (gender, gestational age, birth weight, postmenstrual age, weeks postfirst nipple feed and swallows per study. We also compared the NAS group to 16 LRP infants.ResultsIn the NAS group, there were 94 swallows in 18 studies. In the control group, there were 94 swallows in 12 studies. There were statistical differences between groups for all three types of SwBr. The distribution of SwBr in NAS was similar to LRP infants with NAS having fewer swallows with attenuated respiration and more with central apnea. For POR, there were few differences. Over time, the distribution of SwBr in NAS infants approaches that of control infants.DiscussionVariability in SwBr and POR during NNS may represent neurologic dysfunction in infants with NAS. Specifically, term infants with NAS display an immature pattern of SwBr making them more similar to preterm infants, rather than a unique pathology. The distribution of SwBr and POR in NAS infants becomes more like term infants, possibly representing catch-up development as the NAS symptoms resolve.ConclusionSwBr in babies with NAS is different from that of unaffected term infants, actually being similar to preterm infants. Infants with NAS exhibit a dysmature pattern of NNS development which resolves over time.

  6. Empty sella syndrome presenting as panhypopituitarism in a child

    Directory of Open Access Journals (Sweden)

    Sharmin Jahan

    2016-08-01

    Full Text Available Empty Sella refers to the absence or relative absence of the pituitary gland on radiologic imaging of the Sella turcica. This is usually an incidental finding, and as few as 10% patients presents with Hypopituitarism. The authors report a 13.5-year-old boy who presei1ted with short stature and absence of signs of pubertal onset. Hormonal assay showed panhypopi­tuitarism. X-ray left wrist joint showed delayed bone age and finally MRl of the brain revealed empty Sella. Growth hormone replacement therapy was started to increase the height. The boy is now on regular follow up to monitor response to treatment.

  7. Bilateral abdominoscrotal hydrocele in a 5-month-old infant presented with a left leg edema and cyanosis.

    Science.gov (United States)

    Pogorelić, Z; Jurić, I; Bogdanić, Ž; Krželj, V

    2013-08-01

    A 5-month-old infant presented with bilateral abdominoscrotal hydroceles since birth and left leg edema and cyanosis. An ultrasound of the abdomen showed a cystic mass. Computed tomography showed a fluid filled mass extending intra-abdominally through the inguinal canal from the scrotum. A bilateral hydrocelectomy was performed, and the proximal sac was completely excised through the inguinal incision. The edema of the left leg resolved 2 days after surgery. The postoperative course was uneventful, without complication.

  8. An infant presenting with failure to thrive and hyperkalaemia owing to transient pseudohypoaldosteronism: case report.

    Science.gov (United States)

    De Clerck, Marieke; Vande Walle, Johan; Dhont, Evelyn; Dehoorne, Joke; Keenswijk, Werner

    2017-05-30

    A 3-month-old boy presented with failure to thrive and a history of a prenatally detected unilateral hydroureteronephrosis which was confirmed after birth. His growth and developmental milestones had been normal during the first 2 months but in the third month his appetite was poor with reduced intake but no vomiting. At presentation, his temperature was normal, there was mild dehydration and there was weight loss (his weight had decreased by 270 g in the past month). Haemoglobin was 11.9 g/dL, total white cell count 20.2 × 10 9 /L (7-15) [neutrophils 30% (39-75) and lymphocytes 61% (16-47)], platelets 702 × 10 9 /L (150-450), BUN12.1 mmol/L (2.1-16.1), serum creatinine 35.4 μmol/L (15.0-37.1), sodium 126 mmol/L (135-144), potassium 6.8 mmol/L (3.6-4.8), chloride 88 mmol/L (98-106) and bicarbonate 14 mmol/L (19-24). Intravenous rehydration with sodium chloride 0.9% solution was commenced and he was transferred to the paediatric intensive care unit. A salt-wasting syndrome was suspected and a differential diagnosis included adrenal insufficiency, pseudohypoaldosteronism and congenital adrenal hyperplasia (owing to 21-hydroxylase deficiency). Urinalysis confirmed a urinary tract infection. Serum aldosterone was 3608 ng/dL (3.7-43.2), plasma renin activity > 38.9 pmol/L (<0.85), random cortisol 459 nmol/L (74-289), adrenocorticotropic hormone (ACTH) 6.01 pmol/L (1.32-6.60) and 17-hydroxyprogesterone 4.01 nmol/L (<3.2). Treatment of the urinary tract infection was followed by normalisation of serum electrolytes and other biochemical abnormalities, return of appetite and normal growth, which confirmed the diagnosis of transient pseudohypoaldosteronsim (TPHA). TPHA is discussed and insight provided to enable early recognition and adequate treatment of this rare clinical entity.

  9. Infants with Down Syndrome and Their Interactions with Objects: Development of Exploratory Actions after Reaching Onset

    Science.gov (United States)

    de Campos, Ana Carolina; da Costa, Carolina Souza Neves; Savelsbergh, Geert J. P.; Rocha, Nelci Adriana Cicuto Ferreira

    2013-01-01

    During infant development, objects and their functions are learned by means of active exploration. Factors that may influence exploration include reaching and grasping ability, object properties and the presence of developmental disorders. We assessed the development of exploratory actions in 16 typically-developing (TD) infants and 9 infants with…

  10. A unique association of Noonan syndrome and 47,XYY syndrome in a male presenting with failure to thrive.

    Science.gov (United States)

    Bellfield, Edward J; Shad, Zohra

    2017-09-01

    We describe a 24-month-old male patient who presented to our Genetics-Endocrinology Clinic with a history of failure to thrive, short stature and cryptorchidism. Soon after birth he was diagnosed with 47,XYY syndrome, but due unusual facial features had further diagnostic workup which revealed Noonan syndrome (NS) as well. This report illustrates significant phenotypic-cytogenetic variability within the clinical presentation of NS and 47,XYY syndrome, as well as the need to investigate patients for other genetic defects when phenotype does not correlate with genotype. Furthermore, in this case, the cellular pathways attenuating growth via PTPN11 mutation appear to supersede the SHOX overdosage-an observation that can lead to further research in genetic mechanisms of growth physiology.

  11. Guillain–Barré syndrome presenting with Raynaud’s phenomenon: a case report

    Science.gov (United States)

    2014-01-01

    Background Guillain–Barré syndrome is an immune mediated acute inflammatory polyradiculo-neuropathy involving the peripheral nervous system. Commonest presentation is acute or subacute flaccid ascending paralysis of limbs. Rarely autonomic dysfunction can be the presenting feature of Guillain–Barré syndrome. Raynaud’s phenomenon, although had been described in relation to many disease conditions, has not been described in association with Guillain–Barré syndrome up to date. Case presentation We report the first case of Guillain–Barré syndrome presenting with Raynaud’s phenomenon in a 21-year-old previously well boy. New onset Raynaud’s phenomenon was experienced followed by acute ascending flaccid paralysis of lower limbs and upper limbs together with palpitations and postural giddiness. Nerve conduction studies showed acute inflammatory demyelinating polyneuropathy with cerebrospinal fluid cyto-protein dissociation. He was treated with intravenous immunoglobulin and showed a satisfactory clinical recovery of muscle weakness, Raynaud’s phenomenon and autonomic disturbances. Conclusion Guillain–Barré syndrome presenting with Raynaud’s phenomenon is not being reported in literature previously. Although the underlying mechanism is not fully understood, Raynaud’s phenomenon should prompt the physician to consider Guillain–Barré syndrome with a complimentary clinical picture. PMID:25182165

  12. Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India.

    Science.gov (United States)

    Ganie, M A; Laway, B A; Nisar, S; Wani, M M; Khurana, M L; Ahmad, F; Ahmed, S; Gupta, P; Ali, I; Shabir, I; Shadan, A; Ahmed, A; Tufail, S

    2011-11-01

    Wolfram syndrome, also known as DIDMOAD, is a relatively rare inherited neurodegenerative disorder, first evident in childhood as an association of juvenile-onset diabetes mellitus and optic atrophy, followed by diabetes insipidus and deafness. The aim of the study was to examine the clinical profile of patients with DIDMOAD syndrome presenting to a tertiary care hospital in north India. Clinical presentation of juvenile-onset diabetes mellitus fulfilling the diagnosis of Wolfram syndrome was studied using a prepared standardized form. Subjects with juvenile-onset non-autoimmune diabetes mellitus attending the diabetic clinic at a tertiary care centre in north India were followed for 10 years and a diagnosis of fully developed Wolfram syndrome was confirmed in seven individuals. The series consisted of five male and two female patients with a mean age of 17.5 ±7.34 years. Two subjects had consanguinity and none had any other family member affected. Optic atrophy was present in all, sensorineural hearing loss in 4/7, central diabetes insipidus in 4/7 and nephrogenic diabetes insipidus in 2/7 subjects. The new associations found were: spastic myoclonus, short stature with pancreatic malabsorption, nephrogenic diabetes insipidus, cyanotic heart disease and choledocholithiasis with cholangitis. Genetic analysis revealed mutation in exon 8 of the WFS1 gene in all the cases studied. The present clinical series of Wolfram syndrome reveals a varied clinical presentation of the syndrome and some new associations. © 2011 The Authors. Diabetic Medicine © 2011 Diabetes UK.

  13. Metastatic gastric cancer presenting with shoulder-hand syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Massarotti Marco

    2008-07-01

    Full Text Available Abstract Introduction Shoulder-hand syndrome is a relatively rare clinical entity classified as a complex regional pain syndrome type 1 and consisting essentially of a painful 'frozen shoulder' with disability, swelling, vasomotor or dystrophic changes in the homolateral hand. The pathophysiology is not completely clear but a predominant 'sympathetic' factor affecting the neural and vascular supply to the affected parts seems to be involved. Shoulder-hand syndrome has been related to many surgical, orthopedic, neurological and medical conditions; it is more often seen after myocardial infarction, hemiplegia and painful conditions of neck and shoulder, such as trauma, tumors, cervical discogenic or intraforaminal diseases and shoulder calcific tendinopathy, but has also been associated with herpetic infections, brain and lung tumors, thoracoplasty and drugs including phenobarbitone and isoniazid. The diagnosis of shoulder-hand syndrome is primarily clinical, but imaging studies, particularly bone scintigraphy, may be useful to exclude other disorders. Case presentation We report the case of a 67-year-old woman who presented with shoulder-hand syndrome as the initial manifestation of gastric cancer which had metastasized to bone. Conclusion Wider investigations are advisable in patients with atypical shoulder-hand syndrome. To the best of the authors' knowledge this is the first case of shoulder-hand syndrome associated with metastatic gastric cancer.

  14. Dyspnoea in-patient with antiphospholipid syndrome; case Presentation and literature revision

    International Nuclear Information System (INIS)

    Restrepo, Lucas; Londono, Maria Carlota; Anaya, Juan Manuel

    2001-01-01

    The antiphospholipid syndrome (AFS) is characterized by vascular thrombosis and/or pregnancy morbidity associated to presence of antiphospholipid antibodies (anticardiolipin and/or lupus anticoagulant), This syndrome may occur alone primary -PAFS-) or in association with systemic lupus erythematosus (secondary -SAFS, Both primary and secondary AFS can be responsible for systemic manifestations other than vascular, among them pulmonary, Here is presented a patient with dyspnoea due to pulmonary hypertension (PHT) and interstitial pulmonary disease (IPD), in whom a diagnostic of SAFS was done, The pulmonary manifestations of the AFS are revised including pulmonary thromboembolism, PHT, IPD, pulmonary hemorrhage, and adult respiratory syndrome with multisystemic failure

  15. Chediak-higashi syndrome presented as accelerated phase: case report and review of the literature.

    Science.gov (United States)

    Bouatay, Amina; Hizem, Sondes; Tej, Amel; Moatamri, Wided; Boughamoura, Lamia; Kortas, Mondher

    2014-09-01

    Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease, characterized by partial oculocutaneous albinism, recurrent pyogenic infections (skin, mucosa and respiratory system), and neurologic deficit. The hallmark of this syndrome is the presence of abnormal intracytoplasmic giant granules in all granule containing cells including leukocytes in blood and bone marrow. A majority (85 %) of patients with CHS develop an accelerated phase consisting of a lymphoproliferative syndrome with hemophagocytosis and infiltration of most tissues. This phase is characterized by fever, jaundice, hepatosplenomegaly, lymphadenopathy, pancytopenia and neurological abnormalities. In this paper, we report a case of CHS presented as accelerated phase in a 9-month-old girl child.

  16. Cleidocranial dysplasia (CCD) causing respiratory distress syndrome in a newborn infant. A case report.

    Science.gov (United States)

    Ringe, Kristina Imeen; Schirg, Eckart; Galanski, Michael

    2010-01-01

    Cleidocranial dysplasia (CCD), also known as Scheuthauer Marie-Sainton Syndrome, is a rare autosomal dominant inherited disorder, characterized by general retardation in bone ossification, hypoplastic clavicles and various craniofacial and dental abnormalities. Early diagnosis of CCD can be difficult, because the majority of craniofacial abnormalities become obvious only during adolescence. We present a rare case of CCD with neonatal manifestation and would like to promote the awareness of this rare disorder and the importance of early diagnosis.

  17. Guillain-Barré syndrome presenting with Raynaud's phenomenon: a case report.

    Science.gov (United States)

    Gunatilake, Sonali Sihindi Chapa; Wimalaratna, Harith

    2014-09-03

    Guillain-Barré syndrome is an immune mediated acute inflammatory polyradiculo-neuropathy involving the peripheral nervous system. Commonest presentation is acute or subacute flaccid ascending paralysis of limbs. Rarely autonomic dysfunction can be the presenting feature of Guillain-Barré syndrome. Raynaud's phenomenon, although had been described in relation to many disease conditions, has not been described in association with Guillain-Barré syndrome up to date. We report the first case of Guillain-Barré syndrome presenting with Raynaud's phenomenon in a 21-year-old previously well boy. New onset Raynaud's phenomenon was experienced followed by acute ascending flaccid paralysis of lower limbs and upper limbs together with palpitations and postural giddiness. Nerve conduction studies showed acute inflammatory demyelinating polyneuropathy with cerebrospinal fluid cyto-protein dissociation. He was treated with intravenous immunoglobulin and showed a satisfactory clinical recovery of muscle weakness, Raynaud's phenomenon and autonomic disturbances. Guillain-Barré syndrome presenting with Raynaud's phenomenon is not being reported in literature previously. Although the underlying mechanism is not fully understood, Raynaud's phenomenon should prompt the physician to consider Guillain-Barré syndrome with a complimentary clinical picture.

  18. Diencephalic syndrome: a frequently neglected cause of failure to thrive in infants.

    Science.gov (United States)

    Kim, Ahlee; Moon, Jin Soo; Yang, Hye Ran; Chang, Ju Young; Ko, Jae Sung; Seo, Jeong Kee

    2015-01-01

    Diencephalic syndrome is an uncommon cause of failure to thrive in early childhood that is associated with central nervous system neoplasms in the hypothalamic-optic chiasmatic region. It is characterized by complex signs and symptoms related to hypothalamic dysfunction; such nonspecific clinical features may delay diagnosis of the brain tumor. In this study, we analyzed a series of cases in order to define characteristic features of diencephalic syndrome. We performed a retrospective study of 8 patients with diencephalic syndrome (age, 5-38 months). All cases had presented to Seoul National University Children's Hospital between 1995 and 2013, with the chief complaint of poor weight gain. Diencephalic syndrome with central nervous system (CNS) neoplasm was identified in 8 patients. The mean age at which symptoms were noted was 18±10.5 months, and diagnosis after symptom onset was made at the mean age of 11±9.7 months. The mean z score was -3.15±1.14 for weight, -0.12±1.05 for height, 1.01±1.58 for head circumference, and -1.76±1.97 for weight-for-height. Clinical features included failure to thrive (n=8), hydrocephalus (n=5), recurrent vomiting (n=5), strabismus (n=2), developmental delay (n=2), hyperactivity (n=1), nystagmus (n=1), and diarrhea (n=1). On follow-up evaluation, 3 patients showed improvement and remained in stable remission, 2 patients were still receiving chemotherapy, and 3 patients were discharged for palliative care. Diencephalic syndrome is a rare cause of failure to thrive, and diagnosis is frequently delayed. Thus, it is important to consider the possibility of a CNS neoplasm as a cause of failure to thrive and to ensure early diagnosis.

  19. Two case presentations of profound labial edema as a presenting symptom of hypermobility-type Ehlers-Danlos syndrome.

    Science.gov (United States)

    Krapf, Jill M; Goldstein, Andrew T

    2013-09-01

    Hypermobility-type Ehlers-Danlos syndrome (EDS), an often-missed diagnosis with the potential for serious sequelae, may have a variety of uncommon presentations, some of which may be gynecologic. The aim of this case report is to present two cases of profound labial edema associated with intercourse as a presenting symptom of hypermobility-type EDS. A 25-year-old female presented with severe labia minora swelling and bladder pressure associated with intercourse, in addition to persistent genital arousal. History revealed easy bruising, joint pain, and family history of aneurysm. A 22-year-old female presented with intermittent profound labial swelling for 6 years, associated with sensitivity and pain with intercourse. The patient has a history of joint pain and easy bruising, as well a sister with joint hypermobility and unexplained lymphedema. The presenting symptom of profound labial edema led to the diagnosis of hypermobility-type EDS. Patients with hypermobility syndrome exhibit an increased ratio of type III collagen to type I collagen, causing tissue laxity and venous insufficiency. Abnormal collagen may lead to gynecologic manifestations, including unexplained profound labial edema, pelvic organ prolapse in the absence of risk factors, and possibly persistent genital arousal. This case report highlights the need for further research to determine incidence of labial edema in hypermobility-type EDS and to further elucidate a potential correlation between profound labial edema and collagen disorders. © 2013 International Society for Sexual Medicine.

  20. Lumbar disk herniation presented with cauda equina syndrome in a pregnant woman

    Directory of Open Access Journals (Sweden)

    Tayfun Hakan

    2012-01-01

    Full Text Available Despite low back pain being common in pregnancy, cauda equina syndrome is rare. Misdiagnosis and delay in treatment may cause neurological sequelae including urinary and fecal incontinence, sexual dysfunction in patients. A case of cauda equina syndrome in a pregnant woman at 25-week gestation is presented here. The patient underwent an emergency, standard lumbar microdiscectomy under general anesthesia on prone position. Neither the patient nor the baby had any complication related to surgery.

  1. Mental and motor development before and during growth hormone treatment in infants and toddlers with Prader-Willi syndrome.

    Science.gov (United States)

    Festen, D A M; Wevers, M; Lindgren, A C; Böhm, B; Otten, B J; Wit, J M; Duivenvoorden, H J; Hokken-Koelega, A C S

    2008-06-01

    Prader-Willi syndrome (PWS) is a neurogenetic disorder characterized by muscular hypotonia, psychomotor delay, feeding difficulties and failure to thrive in infancy. GH treatment improves growth velocity and body composition. Research on the effects of GH on psychomotor development in infants with PWS is limited. To evaluate psychomotor development in PWS infants and toddlers during GH treatment compared to randomized controls. Forty-three PWS infants were evaluated at baseline. Twenty-nine of them were randomized into a GH group (n = 15) receiving 1 mg/m(2)/day GH or a non-GH-treated control group (n = 14). At baseline and after 12 months of follow-up, analysis with Bayley Scales of Infant Development II (BSID-II) was performed. Data were converted to percentage of expected development for age (%ed), and changes during follow-up were calculated. Infants in the GH group had a median age of 2.3 years [interquartile range (IQR) 1.7-3.0] and in the control group of 1.5 years (IQR 1.2-2.7) (P = 0.17). Both mental and motor development improved significantly during the first year of study in the GH group vs. the control group: median (IQR) change was +9.3% (-5.3 to 13.3) vs.-2.9% (-8.1 to 4.9) (P development and +11.2% (-4.9 to 22.5) vs.-18.5% (-27.9 to 1.8) (P development, respectively. One year of GH treatment significantly improved mental and motor development in PWS infants compared to randomized controls.

  2. Sarcomatoid carcinoma of kidney, presenting with leucocytosis as paraneoplastic syndrome: A case report and short review

    Directory of Open Access Journals (Sweden)

    Joydeep Ghosh

    2017-01-01

    Full Text Available Renal cell carcinoma is the ninth most common malignancy. The commonest histopathological type is clear cell carcinoma. The occurrence of sarcomatoid carcinoma is very rare and confers a very poor prognosis. Only 10-20% patients present with paraneoplastic syndromes. Out of the common paraneoplastic syndromes, leucocytosis is one of the least reported. Here, we present a case of sarcomatoid carcinoma of kidney who presented with low-grade fever and leucocytosis, followed by a short review of literature. This is one of the rare situations where a rare histologic variant presents with a rare finding.

  3. Intramedullary spinal cord metastasis from colonic carcinoma presenting as Brown-Sequard syndrome: a case report

    LENUS (Irish Health Repository)

    Kaballo, Mohammed A

    2011-08-02

    Abstract Introduction Intramedullary spinal cord metastasis is very rare. The majority are discovered incidentally during autopsy. Most symptomatic patients present with rapidly progressive neurological deficits and require immediate examination. Few patients demonstrate features of Brown-Séquard syndrome. Radiotherapy is the gold-standard of therapy for Intramedullary spinal cord metastasis. The overall prognosis is poor and the mortality rate is very high. We present what is, to the best of our knowledge, the first case of Intramedullary spinal cord metastasis of colorectal carcinoma presenting as Brown-Séquard syndrome. Case presentation We present the case of a 71-year-old Caucasian man with colonic adenocarcinoma who developed Intramedullary spinal cord metastasis and showed features of Brown-Séquard syndrome, which is an uncommon presentation of Intramedullary spinal cord metastasis. Conclusion This patient had an Intramedullary spinal cord metastasis, a rare form of metastatic disease, secondary to colonic carcinoma. The metastasis manifested clinically as Brown-Séquard syndrome, itself a very uncommon condition. This syndrome is rarely caused by intramedullary tumors. This unique case has particular interest in medicine, especially for the specialties of medical, surgical and radiation oncology. We hope that it will add more information to the literature about these entities.

  4. An Unusual Presentation of Oral Mucocele in Infant and Its Review

    Directory of Open Access Journals (Sweden)

    Neha Bhargava

    2014-01-01

    Full Text Available Mucocele is a benign lesion characterized by an extravasation or retention of mucous in submucosal tissue from minor salivary glands. Mucoceles are known to occur most commonly on the lower lip, followed by the floor of mouth and buccal mucosa being the next most frequent sites. Trauma and lip biting habits are the main cause for these types of lesions. Mucocele is a common oral mucosal lesion but it is rarely observed in the infant. This paper highlights the successful management of a rare case of mucocele in an 11-month-old child. Diagnosis and management of mucocele are challenging. For this reason we felt it would be interesting to review the clinical characteristics, histological features, differential diagnosis, and their treatment and evolution in order to aid decision-making in daily clinical practice.

  5. A CASE REPORT OF RARE PRESENTATION OF MARFAN’S SYNDROME

    Directory of Open Access Journals (Sweden)

    Pavan Kumar

    2014-12-01

    Full Text Available Marfan syndrome is a heritable condition that affects the connective tissues of Human body. It can affect any body systems including the skeleton, eyes, heart and blood vessels, nervous system, skin, and lungs. Estimates indicate that approximately 1 in 3,000 to 5,000 individuals have Marfan syndrome and most individuals with Marfan’s syndrome have another affected family member which are due to new genetic mutations. We present to you an interesting rare case which reported to our hospital few months back with features of Marfan’s syndrome. Without cardiac or respiratory involvement and associated Mutism and Hypogonadism. In the family no other member was affected.

  6. [Acute anterior myocardial infarction as presenting feature of antiphospholipid syndrome related lupus arthritis].

    Science.gov (United States)

    Capilla-Geay, E; Poyet, R; Brocq, F X; Pons, F; Kerebel, S; Foucault, G; Jego, C; Cellarier, G R

    2016-05-01

    Antiphospholipid syndrome is an autoimmune disorder causing venous and arterial thrombosis. Acute coronary complications are rare but potentially dramatic. We report a 39-year-old woman who presented with an acute anterior myocardial infarction after intravenous corticosteroids as part of the treatment of lupus arthritis and revealing antiphospholipid syndrome. Emergency coronary angiography was performed with drug-eluting stent angioplasty despite the need for anticoagulation and dual antiplatelet therapy. Antiplatelet and anticoagulant therapy management is pivotal in patients with antiphospholipid syndrome and acute coronary syndrome to prevent thrombosis recurrence. Copyright © 2015 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.

  7. Skull Base Osteomyelitis from Otitis Media Presenting as the Collet-Sicard Syndrome

    Directory of Open Access Journals (Sweden)

    Wong-Kein Low

    2018-01-01

    Full Text Available Skull base osteomyelitis can involve the jugular foramen and its associated cranial nerves resulting in specific clinical syndromes. The Collet-Sicard syndrome describes the clinical manifestations of palsies involving cranial nerves IX, X, XI, and XII. We present a rare atypical case of skull base osteomyelitis originating from infection of the middle ear and causing the Collet-Sicard syndrome. Caused by Pseudomonas aeruginosa and Klebsiella pneumoniae, this occurred in an elderly diabetic man subsequent to retention of a cotton swab in an ear with chronic suppurative otitis media. This case report illustrates the possibility of retained cotton swabs contributing to the development of otitis media, skull base osteomyelitis, and ultimately the Collet-Sicard syndrome in the ears of immune-compromised patients with chronically perforated eardrums.

  8. Lenalidomide and Dexamethasone for a Patient of POEMS Syndrome Presenting with Massive Ascites

    Directory of Open Access Journals (Sweden)

    Shuji Ueda

    2014-01-01

    Full Text Available POEMS syndrome is a multisystem disorder characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes. POEMS syndrome is a rare cause of refractory ascites. We report the case of a patient with POEMS syndrome presenting with massive ascites who was treated with very-low-dose lenalidomide and dexamethasone. A 57-year-old Japanese man was admitted to our hospital with pleural effusion, massive ascites, and leg edema. The diagnosis of POEMS syndrome was made based on the combination of the following findings: peripheral neuropathy, organomegaly, endocrinopathy, serum monoclonal protein elevation, skin changes, plasma VEGF elevation, and evidence of extravascular volume overload. Renal dysfunction induced by biopsy-proven renal involvement of POEMS syndrome was observed. Massive ascites of the patient dramatically diminished with long-time treatment of very-low-dose lenalidomide and dexamethasone. Lenalidomide seems to be a very promising therapy for POEMS syndrome presenting with extravascular volume overload such as edema, pleural effusion, and ascites. Very-low-dose lenalidomide might be effective especially for the patients with POEMS-related nephropathy.

  9. Comparing effects of Beractant and Poractant alfa in decreasing mortality rate due to respiratory distress syndrome in premature infants

    Directory of Open Access Journals (Sweden)

    Saeidi R

    2011-02-01

    Full Text Available "nBackground: Exogenous natural and synthetic surfactants is a rescue treatment for respiratory distress syndrome (RDS. The goals of the study were to compare the clinical response and side-effects of two frequently used surfactants, poractant alfa (Curosurf and beractant (Survanta, for the treatment of respiratory distress syndrome in preterm infants."n "nMethods: This clinical trial study was performed during a two-year period in the Neonatal Intensive Care Unit of Ghaem Hospital in Mashhad, Iran. Sample size calculated by a 95% confidence and power of 80, included 104 premature neonates, 74 in survanta and 30 in curosurf groups. The level of statistical significance was considered to be < 0.05."n "nResults: There were no statistically significant differences between the infants treated by survanta or cursurf groups regarding their mean gestational age (30.58 Vs. 29.00 weeks and birth weight (1388 Vs. 1330 g, (p=0.3 There were also no significant differences between the two groups regarding incidences of broncho- pulmonary dysplasia (BPD (40.5% Vs. 40%, intraventricular hemorrhage (IVH grades III/IV (13.5% Vs. 13.3%, pneumothorax (both 20%, patent ductus arteriosus (PDA (28/3% Vs. 20% or death (28% Vs. 26.6% on the 28th day postpartum."n "nConclusion: This study showed that survanta and curosurf had similar therapeutic effects in the treatment of neonatal respiratory distress syndrome.

  10. Sudden Infant Death Syndrome in Mice with an Inherited Mutation in RyR2

    Science.gov (United States)

    Mathur, Nitin; Sood, Subeena; Wang, Sufen; van Oort, Ralph J.; Sarma, Satyam; Li, Na; Skapura, Darlene G.; Bayle, J. Henri; Valderrábano, Miguel; Wehrens, Xander H.T.

    2009-01-01

    Background Mutations in the cardiac ryanodine receptor gene (RYR2) have been recently identified in victims of sudden infant death syndrome (SIDS). The aim of this study was to determine whether a gain-of-function mutation in RYR2 increases the propensity to cardiac arrhythmias and sudden death in young mice. Methods and Results Incidence of sudden death was monitored prospectively in heterozygous knock-in mice with mutation R176Q in Ryr2 (R176Q/+). Young R176Q/+ mice exhibited a higher incidence of sudden death compared with wild-type (WT) littermates. Optical mapping of membrane potentials and calcium levels in 1-7 day-old R176Q/+ and WT mice revealed an increased incidence of ventricular ectopy and spontaneous calcium releases in neonatal R176Q/+ mice. Surface ECGs in 3-10 day-old mice showed that R176Q/+ mice developed more ventricular arrhythmias following provocation with epinephrine and caffeine. Intracardiac pacing studies in 12-18 day-old mice revealed the presence of an arrhythmogenic substrate in R176Q/+ compared with WT mice. RT-PCR and Western blotting showed that expression levels of other calcium handling proteins were unaltered suggesting that calcium leak through mutant RyR2 underlies arrhythmogenesis and sudden death in young R176Q/+ mice. Conclusions Our findings demonstrate that a gain-of-function mutation in RyR2 confers an increased risk of cardiac arrhythmias and sudden death in young mice, and that young R176Q/+ mice may be used as a model for elucidating the complex interplay between genetic and environmental risk factors associated with SIDS. PMID:20009080

  11. Case report: long-term survival of an infant syndromic patient affected by atypical teratoid-rhabdoid tumor

    International Nuclear Information System (INIS)

    Modena, Piergiorgio; Maestro, Roberta; Giangaspero, Felice; Massimino, Maura; Sardi, Iacopo; Brenca, Monica; Giunti, Laura; Buccoliero, Anna Maria; Pollo, Bianca; Biassoni, Veronica; Genitori, Lorenzo; Antonelli, Manila

    2013-01-01

    Atypical teratoid rhabdoid tumor (ATRT) patients display a dismal median overall survival of less than 1 year. A consistent fraction of cases carries de-novo SMARCB1/INI1 constitutional mutations in the setting of the “rhabdoid tumor predisposition syndrome” and the outcome is worst in infant syndromic ATRT patients. We here describe a patient affected by mosaic Klinefelter syndrome and by rhabdoid tumor predisposition syndrome caused by constitutional SMARCB1/INI1 heterozygous mutation c.118C>T (Arg40X). Patient’s ATRT primary tumor occurred at 2 years of age concurrent with metastatic lesions. The patient was rendered without evidence of disease by combined surgery, high-dose poli-chemotherapy and craniospinal irradiation, followed by autologous hematopoietic stem cell transplantation. At the onset of a spinal lesion 5.5 years later, both tumors were pathologically and molecularly evaluated at the national central pathology review board and defined as ATRT in a syndromic patient, with strong evidence of a clonal origin of the two lesions. The patient was then treated according to SIOP guidelines and is now alive without evidence of disease 24 months after the detection of metastatic disease and 90 months after the original diagnosis. The report underscores the current utility of multiple comprehensive approaches for the correct diagnosis and clinical management of patients affected by rare and atypical brain neoplasms. Successful local control of disease and achievement of long-term survival is possible in ATRT patients even in the setting of rhabdoid tumor predisposition syndrome, infant age at diagnosis and metastatic spread of disease, thus justifying the efforts for the management of this severe condition

  12. Early Language Development in Infants and Toddlers with Fragile X Syndrome: Change over Time and the Role of Attention

    Science.gov (United States)

    Kover, Sara T.; McCary, Lindsay M.; Ingram, Alexandra M.; Hatton, Deborah D.; Roberts, Jane E.

    2017-01-01

    Fragile X syndrome (FXS) is associated with significant language and communication delays, as well as problems with attention. This study investigated early language abilities in infants and toddlers with FXS (n = 13) and considered visual attention as a predictor of those skills. We found that language abilities increased over the study period of 9 to 24 months with moderate correlations among language assessments. In comparison to typically developing infants (n = 11), language skills were delayed beyond chronological age- and developmental level-expectations. Aspects of early visual attention predicted later language ability. Atypical visual attention is an important aspect of the FXS phenotype with implications for early language development, particularly in the domain of vocabulary. PMID:25715182

  13. The Nager acrofacial dysostosis syndrome with the tetralogy of Fallot.

    Science.gov (United States)

    Thompson, E; Cadbury, R; Baraitser, M

    1985-10-01

    A male infant is described with mandibulofacial dysostosis and absent thumbs, consistent with the Nager acrofacial dysostosis syndrome. In addition, the tetralogy of Fallot was present. Major congenital heart malformations occur rarely in this syndrome.

  14. Presentation and outcome of HIV-1 infection in hospitalised infants and other children in north-eastern Nigeria.

    Science.gov (United States)

    Akpede, G O; Ambe, J P; Rabasa, A I; Akuhwa, T R; Ajayi, B B; Akoma, M A; Bukbuk, D N; Harry, T O

    1997-01-01

    There is limited information on HIV infection in children in West Africa. This prospective case series study was done to determine the size of the problem and the feasibility of selective screening for infection based on clinical presentation. It involved infants and other children admitted to the Children's Emergency Ward and Paediatric Medical Ward of the University of Maiduguri Teaching Hospital, Nigeria, from the beginning of September 1992 to the end of September 1994. Clinical evaluation followed by serologic tests (ELISA and Western blot techniques) was undertaken. Descriptive study; frequencies were compared using chi 2 test for Fisher's exact test as appropriate. One hundred and ninety nine (10.9%) of 1,822 admissions were screened. One hundred and fifty eight (79.4%) were ELISA negative and 17 (8.6%) ELISA and WB positive; a further 10 (5%) were ELISA positive but WB indeterminate and 14 (7%) were ELISA positive but WB negative in 12 or untested in two. All the infections were HIV-1. Sixteen (39%) patients (nine WB positive, three WB indeterminate and four ELISA positive only) are dead, 14 from HIV-related illnesses, two (4.9]) are alive and 23 (56.1%) lost to follow up; 11 of the HIV-related deaths involved infants. Presence of persistent diarrhoea, prolonged fever, oral thrush, hepatosplenomegaly, diagnosis of tuberculosis and severe malnutrition with gastroentereritis, and multiple (> 3) diagnosis on admission were significantly (p < 0.05) associated with WB confirmed HIV-1 seropositivity and could serve as indicators for selective screening. HIV-1 infection in hospitalised infants and children has become an important problem in Nigeria, presentation in infancy is associated with a high case fatality rate, and the practice of selective screening based on clinical presentation would appear to be feasible.

  15. Recurrent progressive anterior segment fibrosis syndrome following a descemet-stripping endothelial keratoplasty in an infant with congenital aniridia

    Directory of Open Access Journals (Sweden)

    Mihir Kothari

    2014-01-01

    Full Text Available Progressive anterior segment fibrosis syndrome (ASFS, after intraocular surgery in older children (≥9 years and adults with congenital aniridia, is described in the literature. In this report, we describe an unique case of ASFS in an infant with congenital aniridia following a combined trabeculotomy-ectomy and its recurrence after a descemet stripping endothelial keratoplasty. The ophthalmologists should be well aware of this entity and warn the parents about its possibilities. Use of immunomodulators or prolonged anti-inflammatory therapy may be considered to prevent its occurrence.

  16. Twin-twin Transfusion Syndrome with a Single Ectopic Kidney in a Twin Donor. Case Presentation

    OpenAIRE

    Gerardo Rogelio Robaina Castellanos; Solangel de la Caridad Riesgo Rodríguez; Esther María Tristá Ricardo

    2016-01-01

    Twin-twin Transfusion Syndrome presents more frequently in diamniotic monochromic twins. In advanced stages and without prenatal intervention, is associated to high rates of peri natal mortality and neurological sequel in the survivors. It is presented a case of a pair of twins with severe depression at birth in which it was diagnosed a Twin-twin Transfusion Syndrome, later confirmed with the presence of anemia in the donor twin and polycythemia in the receptor twin. Both twins had an unfavou...

  17. Presentation and management of trapped neutrophil syndrome (TNS) in UK Border collies.

    Science.gov (United States)

    Mason, S L; Jepson, R; Maltman, M; Batchelor, D J

    2014-01-01

    Three UK bred Border collie puppies were presented for investigation of pyrexia and severe lameness with associated joint swelling. Investigations revealed neutropenia, radiographic findings suggesting metaphyseal osteopathy, and polyarthritis and all dogs were subsequently confirmed with trapped neutrophil syndrome. Clinical improvement was seen after treatment with prednisolone and antibiotics and the dogs all survived to adulthood with a good short- to medium-term outcome. Trapped neutrophil syndrome is an important differential diagnosis for young Border collie dogs in the UK presenting with pyrexia, neutropenia and musculoskeletal signs. © 2013 British Small Animal Veterinary Association.

  18. Bilateral sudden sensorineural hearing loss as an initial presentation of myelodysplastic syndrome.

    Science.gov (United States)

    Lee, Eun Jung; Yoon, Yong Joo

    2012-01-01

    This study reports an unusual case in which myelodysplastic syndrome presented bilateral sudden sensorineural hearing loss as the first symptom of the disease. The aural symptoms and signs such as tinnitus, dizziness, and hearing impairment of a hematologic disease are common. However, sudden hearing loss as the first manifestation of a hematologic disease is extremely rare. A 76-year-old woman presented with bilateral sudden hearing loss. The patient was found to have myelodysplastic syndrome during a workup for her hearing loss. Unfortunately, the patient's hearing loss did not improve after the medical treatment. Copyright © 2012 Elsevier Inc. All rights reserved.

  19. Neurally adjusted ventilatory assist (NAVA) in preterm newborn infants with respiratory distress syndrome-a randomized controlled trial.

    Science.gov (United States)

    Kallio, Merja; Koskela, Ulla; Peltoniemi, Outi; Kontiokari, Tero; Pokka, Tytti; Suo-Palosaari, Maria; Saarela, Timo

    2016-09-01

    Neurally adjusted ventilatory assist (NAVA) improves patient-ventilator synchrony during invasive ventilation and leads to lower peak inspiratory pressures (PIP) and oxygen requirements. The aim of this trial was to compare NAVA with current standard ventilation in preterm infants in terms of the duration of invasive ventilation. Sixty infants born between 28 + 0 and 36 + 6 weeks of gestation and requiring invasive ventilation due to neonatal respiratory distress syndrome (RDS) were randomized to conventional ventilation or NAVA. The median durations of invasive ventilation were 34.7 h (quartiles 22.8-67.9 h) and 25.8 h (15.6-52.1 h) in the NAVA and control groups, respectively (P = 0.21). Lower PIPs were achieved with NAVA (P = 0.02), and the rapid reduction in PIP after changing the ventilation mode to NAVA made following the predetermined extubation criteria challenging. The other ventilatory and vital parameters did not differ between the groups. Frequent apneas and persistent pulmonary hypertension were conditions that limited the use of NAVA in 17 % of the patients randomized to the NAVA group. Similar cumulative doses of opiates were used in both groups (P = 0.71). NAVA was a safe and feasible ventilation mode for the majority of preterm infants suffering from RDS, but the traditional extubation criteria were not clinically applicable during NAVA. • NAVA improves patient-ventilator synchrony during invasive ventilation. • Lower airway pressures and oxygen requirements are achieved with NAVA during invasive ventilation in preterm infants by comparison with conventional ventilation. What is new: • Infants suffering from PPHN did not tolerate NAVA in the acute phase of their illness. • The traditional extubation criteria relying on inspiratory pressures and spontaneous breathing efforts were not clinically applicable during NAVA.

  20. Neonatal Mortality and Long-Term Outcome of Infants Born between 27 and 32 Weeks of Gestational Age in Breech Presentation: The EPIPAGE Cohort Study.

    Science.gov (United States)

    Azria, Elie; Kayem, Gilles; Langer, Bruno; Marchand-Martin, Laetitia; Marret, Stephane; Fresson, Jeanne; Pierrat, Véronique; Arnaud, Catherine; Goffinet, François; Kaminski, Monique; Ancel, Pierre-Yves

    2016-01-01

    To determine whether breech presentation is an independent risk factor for neonatal morbidity, mortality, or long-term neurologic morbidity in very preterm infants. Prospective population-based cohort. Singletons infants without congenital malformations born from 27 to 32 completed weeks of gestation enrolled in France in 1997 in the EPIPAGE cohort. The neonatal and long-term follow-up outcomes of preterm infants were compared between those in breech presentation and those in vertex presentation. The relation of fetal presentation with neonatal mortality and neurodevelopmental outcomes was assessed using multiple logistic regression models. Among the 1518 infants alive at onset of labor included in this analysis (351 in breech presentation), 1392 were alive at discharge. Among those eligible to follow up and alive at 8 years, follow-up data were available for 1188 children. Neonatal mortality was significantly higher among breech than vertex infants (10.8% vs. 7.5%, P = 0.05). However the differences were not significant after controlling for potential confounders. Neonatal morbidity did not differ significantly according to fetal presentation. Severe cerebral palsy was less frequent in the group born in breech compared to vertex presentation but there was no difference after adjustment. There was no difference according to fetal presentation in cognitive deficiencies/learning disabilities or overall deficiencies. Our data suggest that breech presentation is not an independent risk factor for neonatal mortality or long-term neurologic deficiencies among very preterm infants.

  1. Exogenous surfactant kinetics in infant respiratory distress syndrome : A novel method with stable isotopes

    NARCIS (Netherlands)

    Torresin, M; Zimmermann, LJI; Cogo, PE; Cavicchioli, P; Badon, T; Giordano, G; Zacchello, F; Sauer, PJJ; Carnielli, VP

    Little is known about surfactant metabolism in newborn infants, since radioactive isotopes cannot be used in humans. We describe here a new method for studying exogenous surfactant pharmacokinetics in vivo. We measured surfactant half-life, pool size, and turnover time in eight preterm infants

  2. Recent temporal trends in the presentation, management, and outcome of women hospitalized with acute coronary syndromes.

    Science.gov (United States)

    Sabbag, Avi; Matetzky, Shlomi; Gottlieb, Shmuel; Fefer, Paul; Kohanov, Orly; Atar, Shaul; Zahger, Doron; Porter, Avital; Koifman, Bella; Goldenberg, Ilan; Segev, Amit

    2015-04-01

    Few data exist on the recent trends in the outcome of women hospitalized with acute coronary syndrome. We examined temporal trends in the hospital management and outcomes of women hospitalized with acute coronary syndrome in a real-world setting. We evaluated time-dependent changes in the clinical characteristics, management strategies, and outcomes of women enrolled in the Acute Coronary Syndrome Israeli Surveys (ACSIS) between 2000 and 2010. Periods were categorized as early (2000-2004) and late (2006-2010). Among 11,536 patients enrolled in ACSIS, 2710 (24%) were women. Frequency of women presenting with acute coronary syndrome had declined from 25% in 2000 to 22% in 2010 (P for trend = .002). Women presented less frequently with ST-elevation myocardial infarction and more frequently with associated comorbidities (P change in time to admission among women hospitalized with acute coronary syndrome, temporal change in management strategies over the last decade may have contributed to improved outcomes in this population. Copyright © 2015 Elsevier Inc. All rights reserved.

  3. Superior Vena Cava Syndrome: A Presenting Feature of Mediastinal Germ Cell Tumor

    Directory of Open Access Journals (Sweden)

    Mahua Roy

    2010-04-01

    Full Text Available Superior vena cava syndrome (SVCS is rare in children. Non-Hodgkin’s Lymphoma (NHL is the most common cause of SVCS in children. This report an adolescent male who presented with SVCS due to mixed germ cell tumor (GCT of the anterior mediastinum with predominant yolk cell component. Such etiology of SVCS is rarely reported.

  4. Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome.

    NARCIS (Netherlands)

    Hove, J.L. van; Wevers, R.A.; Cleemput, J. van; Moerman, P.; Sciot, R.; Matthijs, G.; Schollen, E.; Jong, J.G.N. de; Carey, W.F.; Muller, V.; Nicholls, C.; Perkins, K.; Hopwood, J.J.

    2003-01-01

    Sanfilippo A syndrome, mucopolysaccharidosis type IIIA, is caused by a deficiency of heparan sulphamidase activity, and usually presents in childhood with neurodegeneration leading to death in teenage years. Visceral symptoms are limited to coarsening and diarrhea. We now describe an adult patient

  5. Late-onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome

    NARCIS (Netherlands)

    Van Hove, JLK; Wevers, RA; Van Cleemput, J; Moerman, P; Sciot, R; Matthijs, G; Schollen, E; de Jong, JGN; Carey, WF; Muller, [No Value; Nicholls, C; Perkins, K; Hopwood, JJ

    2003-01-01

    Sanfilippo A syndrome, mucopolysaccharidosis type IIIA, is caused by a deficiency of heparan sulphamidase activity, and usually presents in childhood with neurodegeneration leading to death in teenage years. Visceral symptoms are limited to coarsening and diarrhea. We now describe an adult patient

  6. Panayiotopoulos syndrome presenting with status epilepticus and cardiorespiratory arrest: a case report.

    Science.gov (United States)

    Mujawar, Quais Mohammad; Sen, Santanu; Ali, Mir Dilshad; Balakrishnan, Pramod; Patil, Shekhar

    2011-08-01

    Panayiotopoulos syndrome is early-onset benign childhood epilepsy, now classified as an electroclinical syndrome. The original description in 1989 focused on the triad of nocturnal seizures, tonic eye deviation, and vomiting. With available data from the long-term studies, a wide variety of manifestations have been described, with recognition of autonomic features as being the most prominent aspect of this epilepsy. The presenting symptoms are usually focal seizures comprising autonomic symptoms and/or behavioral changes. Majority of these seizures are in sleep, with half of the seizures progressing to become secondarily generalized. Occasionally, these seizures can present with prominent autonomic features such as ictal vomiting, pallor, flushing/cyanosis, and tachycardia with prolonged thermoregulatory changes lasting for hours, constituting autonomic status epilepticus. Recovery from this autonomic status epilepticus is within hours and is always complete. Autonomic status epilepticus has been previously reported in this epilepsy syndrome, but ictal cardiorespiratory arrest is extremely rare, with only 4 cases being reported in literature. All 4 cases reported in literature recovered spontaneously and did not require resuscitation. Here we present a 3½-year-old male child with Panayiotopoulos syndrome who presented with status epilepticus and ictal cardiorespiratory arrest requiring cardiopulmonary resuscitation for revival.

  7. Persistent Hiccups—An Unusual Presentation of Bilateral Pheochromocytoma without Syndromic Association: A Case Report

    Directory of Open Access Journals (Sweden)

    Nitin Aherrao

    2012-01-01

    Full Text Available Pheochromocytoma is a rare catecholamine-producing tumor arising from chromaffin tissue in the adrenal medulla, occurring in less than 0.2 percent of patients with hypertension. The mean age at diagnosis is about 40 years. Pheochromocytomas are commonly inherited as features of multiple endocrine neoplasia type 2 or several other pheochromocytoma-associated syndromes and have variable clinical presentation. Among the presenting symptoms, episodes of palpitations, headaches, and profuse sweating are typical and constitute a classic triad. We report a case of a 17-year-old male patient with rare bilateral pheochromocytoma presenting with persistent hiccups for 4 months and blurring of vision for 1 week, later followed by hypertensive crisis. There was neither family history of pheochromocytoma nor any classic symptoms. Patient was diagnosed with bilateral pheochromocytoma without any syndromic association. But still this patient needs to be followed for future development of medullary carcinoma of thyroid because it could be an initial presentation of MEN 2A/2B/VHL syndromes. Our paper highlights the importance of maintaining a high level of suspicion for persistent hiccups and careful clinical screening for hypertension even in absence of associated syndromes of pheochromocytoma and classical symptoms to achieve prompt diagnosis and to avoid improper management.

  8. Brown-bowel syndrome. Review of the literature and presentation of cases

    DEFF Research Database (Denmark)

    Horn, T; Svendsen, L B; Nielsen, R

    1990-01-01

    Four cases of brown-bowel syndrome (BBS) are presented. BBS is found in malabsorptive conditions secondary to diseases involving the liver, pancreas, and gastrointestinal tract. Morphologically, BBS is characterized by deposition of lipofuscin in the tunica muscularis, and electron microscopy shows...

  9. "Klebsiella Pneumonia" Liver Abscess Syndrome: Case Presentation to a College Student Health Clinic

    Science.gov (United States)

    Woll, Christopher; Spotts, P. Hunter

    2016-01-01

    The authors describe a case of "Klebsiella pneumoniae" liver abscess (KPLA) in a student presenting to a university student health center. The authors also provide a review of KPLA and invasive "Klebsiella pneumoniae" liver abscess syndrome (IKPLAS), including epidemiology, common clinical manifestations, standard diagnostic…

  10. Immune reconstitution syndrome presenting as probable AIDS-related lymphoma: a case report

    DEFF Research Database (Denmark)

    Mortensen, Bo K; Nielsen, Susanne D; Christensen, Charlotte

    2011-01-01

    ABSTRACT: We report an unusual case of HIV-related immune reconstitution inflammatory syndrome, presenting as suspected AIDS-related lymphoma. Symptoms, initial investigations including fine-needle biopsy and 18F-FDG PET/CT scan were highly compatible with high grade AIDS-related lymphoma, however...

  11. A case of split notochord syndrome: a child with a neuroenteric fistula presenting with meningitis

    NARCIS (Netherlands)

    G.H. van Ramshorst (Gabrielle); M.H. Lequin (Maarten); G.M.S. Mancini (Grazia); C. van de Ven (C.)

    2006-01-01

    textabstractThe authors describe a case of split notochord syndrome with a neuroenteric fistula in a newborn presenting with meningitis. Associated anomalies included agenesis of the corpus callosum, short colon, malrotation, epispadias, and an abnormally high bifurcation of the abdominal aorta and

  12. Gianotti–Crosti Syndrome- the first case report from Bahrain: A rare presentation following vaccinations

    OpenAIRE

    AlSabbagh, Manahel Mahmood; Kassim, Azad Kareem Hussein

    2016-01-01

    Gianotti–Crosti Syndrome is an idiopathic nonspecific cutaneous host response. It manifests as a benign papular rash classically limited to the extremities and the face. We are reporting a case of an eighteen-month-old healthy boy presented with an itchy papular rash of one week duration, two days following vaccinations.

  13. Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome.

    Science.gov (United States)

    Somaschini, Marco; Presi, Silvia; Ferrari, Maurizio; Vergani, Barbara; Carrera, Paola

    2017-12-19

    Genetic surfactant dysfunction causes respiratory failure in term and near-term newborn infants, but little is known of such condition in prematures. We evaluated genetic surfactant dysfunction in premature newborn infants with severe RDS. A total of 68 preterm newborn infants with gestational age ≤32 weeks affected by unusually severe RDS were analysed for mutations in SFTPB, SFTPC and ABCA3. Therapies included oxygen supplementation, nasal CPAP, different modalities of ventilatory support, administration of exogenous surfactant, inhaled nitric oxide and steroids. Molecular analyses were performed on genomic DNA extracted from peripheral blood and Sanger sequencing of whole gene coding regions and intron junctions. In one case histology and electron microscopy on lung tissue was performed. Heterozygous previously described rare or novel variants in surfactant proteins genes ABCA3, SFTPB and SFTPC were identified in 24 newborn infants. In total, 11 infants died at age of 2 to 6 months. Ultrastructural analysis of lung tissue of one infant showed features suggesting ABCA3 dysfunction. Rare or novel genetic variants in genes encoding surfactant proteins were identified in a large proportion (35%) of premature newborn infants with particularly severe RDS. We speculate that interaction of developmental immaturity of surfactant production in association with abnormalities of surfactant metabolism of genetic origin may have a synergic worsening phenotypic effect.

  14. Presentation of an uncommon form of aortic dissection and rupture in Marifoan syndrome

    International Nuclear Information System (INIS)

    Delgado, I.; Ruiz, R.; Villanueva, J.M.; Fernandez Cueto, J.L.

    1995-01-01

    In Marfan syndrome, aneurysmatic enlargement of ascending aorta and dissection starting at the root are the most common cardiovascular complications. We present an infrequent case of a 15-year-old patient with a typical case of Marfan syndrome. CT disclosed an aorta and aortic arch of normal size with dissection originating distally with respect to the point where left subclavian artery arises. The disecction extended to descending aorta and to iliac and femoral arteries. Aortic rupture occurred in the arch, with massive hemothorax. The CT findings were confirmed at necropsy. 9 refs

  15. Shedding of Rubella Virus among Infants with Congenital Rubella Syndrome Born in Tokyo, Japan, 2013-2014.

    Science.gov (United States)

    Sugishita, Yoshiyuki; Akiba, Tetsuya; Sumitomo, Masami; Hayata, Noriko; Hasegawa, Michiya; Tsunoda, Tokuko; Okazaki, Terue; Murauchi, Konomi; Hayashi, Yukinao; Kai, Akemi; Seki, Naomi; Kayebeta, Aya; Iwashita, Yuuko; Kurita, Masayuki; Tahara, Narumi

    2016-09-21

    Rubella is usually a mild illness, with febrile rash being its main symptom. However, serious consequences of rubella infection can result when the infection occurs during the early stages of pregnancy. After the occurrence of a rubella outbreak in Japan that was observed from 2012 to 2013, 45 infants were reportedly born with congenital rubella syndrome (CRS). We prospectively followed the 15 CRS cases reported in Tokyo to determine the virus shedding periods by using nested reverse transcriptase-polymerase chain reaction to detect rubella virus genes. Throast swabs were used for virus detection. The virus shedding period was measured from birth until the time when the sample last tested positive followed by 2 consecutive negative samples. Kaplan-Meier method was used to estimate the proportion of cases remaining positive for rubella virus genes over time. The proportion of CRS cases shedding virus dropped steadily after birth, dropping to 33.8% at 6 months and 16.9% at 12 months. Our findings also suggested that the earlier the mother's onset of rubella during pregnancy, the longer the infant remained positive. Based on our findings, we believe that infants with CRS should be monitored for rubella virus shedding until 1 year of age.

  16. Animal models for assessment of infection and inflammation: contributions to elucidating the pathophysiology of sudden infant death syndrome (SIDS

    Directory of Open Access Journals (Sweden)

    Jane eBlood-Siegfried

    2015-03-01

    Full Text Available Sudden Infant Death Syndrome (SIDS is still not well understood. It is a diagnosis of exclusion following the sudden and unexpected death of an infant. There are numerous theories about the etiology of SIDS but the exact cause or causes have never been pinpointed.Examination of theoretical pathologies might only be possible in animal models. Development of these models requires consideration of the genetic, developmental and environmental risk factors associated with SIDS, as they need to explain how the risk factors could contribute to the cause of death. These models were initially developed in common laboratory animals to test various hypotheses to explain these infant deaths - guinea pig, piglet, mouse, neonatal rabbit and neonatal rat. Currently there are growing numbers of researchers using genetically altered animals to examine specific areas of interest. This review describes the different systems and models developed to examine the diverse hypotheses for the cause of SIDS and their potential for defining a causal mechanism or mechanisms.

  17. Eculizumab in the treatment of atypical hemolytic uremic syndrome in an infant leads to cessation of peritoneal dialysis and improvement of severe hypertension.

    Science.gov (United States)

    Ohta, Toshiyuki; Urayama, Kohtaro; Tada, Yoshihiro; Furue, Takeki; Imai, Sayaka; Matsubara, Keita; Ono, Hiroaki; Sakano, Takashi; Jinno, Kazuhiko; Yoshida, Yoko; Miyata, Toshiyuki; Fujimura, Yoshihiro

    2015-04-01

    Severe hypertension (HTN) and acute kidney injury frequently associated with atypical hemolytic uremic syndrome (aHUS) were refractory to various therapies in the pre-eculizumab era. Here we report the case of a 4-month-old boy who developed aHUS presenting with undetectable C3 protein, no predisposing mutations in complement factors, and no antibodies against factor H. Repeated plasma infusions and nine sessions of plasmapheresis were ineffective. The patient initially required continuous hemodiafiltration and thereafter peritoneal dialysis. Despite vigorous antihypertensive treatment and improved fluid overload with dialysis, HTN persisted. His low C3 level (dialysis. This infant with HTN and acute kidney injury associated with aHUS was treated successfully with eculizumab.

  18. Diffuse large B-cell lymphoma of stomach presenting with paraneoplastic cerebellar degeneration syndrome.

    Science.gov (United States)

    Nomani, Ali Zohair; Wazir, Marina; Kashmir, Saba Binte; Qureshi, Muhammad Saleem

    2014-03-01

    Paraneoplastic syndromes are most often diagnosed in the setting of a known malignancy. It is not uncommon for a paraneoplastic disorder to develop before a cancer is identified. While syndrome of cerebellar degeneration has been identified as a paraneoplastic manifestation of Hodgkin's lymphoma, thymoma, lung and breast cancer, ovarian and testicular tumors, melanoma, renal cell carcinoma, follicular lymphoma and adenocarcinoma of stomach, its association with non-Hodgkin's lymphoma and particularly diffuse large B-cell lymphoma has not been established previously. This case report describes the primary presentation with signs of paraneoplastic cerebellar degeneration as the only manifestation of an underlying diffuse large B-cell lymphoma making it the first of its kind to be formally reported. Furthermore, it also includes the identification of associated paraneoplastic antibodies for this particular syndrome.

  19. [Dragged disc syndrome in a patient presenting neurofibromatosis type II: a case study].

    Science.gov (United States)

    Gicquel, J-J; Vabres, P; Mercié, M; Klossek, J-M; Dighiero, P

    2005-05-01

    We report a case of dragged disc syndrome associated with neurofibromatosis type II (NF2). A 5-year-old girl with amblyopia (right eye, 20/200; left eye, 20/40) presented with dragged disk syndrome and a posterior subcapsular cataract in the left eye associated with an epiretinal membrane in the right eye. Five years later, she developed exophthalmos in the right eye associated with a cervical mass. MRI revealed schwannoma developing in the left optic nerve sheath associated with a cervicothoracic schwannoma. The child was diagnosed with NF2. Association of posterior subcapsular cataract with macular epiretinal membranes is highly suggestive of NF2, although the dragged disk syndrome has not been previously reported in NF2 to our knowledge. It may also be an ocular feature of this disease.

  20. [Analysis of copy number variations in an infant with Cri du Chat syndrome by array-based comparative genomic hybridization].

    Science.gov (United States)

    Luo, Fu-wei; Luo, Cai-qun; Xie, Jian-sheng; Gen, Qian; Liu, Hong; Li, Fang; Chen, Wu-bing; Wang, Li

    2013-08-01

    To analyze genomic copy number variations in an infant with Cri du Chat syndrome, and to explore the underlying genetic cause. G-banding analysis was carried out on cultured peripheral blood sample from the patient. Copy number variation analysis was performed using microarray comparative genomic hybridization, and the result was verified with fluorescence in situ hybridization. The infant was found to have a 46, XY, der(5) (p?) karyotype. By microarray comparative genomic hybridization, a 23.263 Mb deletion was detected in 5p14.2-p15.3 region in addition to a 14.602 Mb duplication in 12p31 region. A derivative chromosome was formed by rejoining of 12p31 region with the 5p14.2 breakpoint. The patient therefore has a karyotype of arr cgh 5p15.3p14.2 (PLEKHG4B>CDH12)× 1 pat, 12p13.33p13.1 (IQSEC3>GUC Y2C)× 3 pat. Loss of distal 5p and gain of distal 12p were verified with fluorescence in situ hybridization. The Cri du Chat syndrome manifested by the patient was caused by deletion of distal 5p from an unbalanced translocation involving chromosome 5. Microarray comparative genomic hybridization is a powerful tool for revealing genomic copy number variations for its high-resolution, high-throughput and high accuracy.