Chiari-like malformation and syringomyelia in cavalier King Charles spaniels

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Rusbridge, C.

2007-01-01

This thesis is the cumulation of over a decade of study into the pathogenesis and treatment Chiari-like malformation and syringomyelia (CM/SM) in the cavalier King Charles spaniel (CKCS). Chiari-like malformation is a condition where the brain is too big for the skull and is crushed and pushed out

Anesthetic management in a child with Arnold-Chiari malformation and bilateral vocal cord paralysis.

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Setz, A.C.W.; Boer, H.D. de; Driessen, J.J.; Scheffer, G.J.

2005-01-01

We report a case of a child who was scheduled for an emergency ventriculoperitoneal shunt procedure. The patient had a type II Arnold-Chiari malformation (ACM) and associated hydrocephalus and presented with near complete respiratory obstruction from bilateral abductor vocal cord palsy. Early

Two Cases of Arnold-Chiari Malformation with Respiratory Failure

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Sinem Iliaz

2014-03-01

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

Clinical and radiological findings in arnold chiari malformation

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Khan, A.A.; Bhatti, S.N.; Ahmed, E.; Aurangzeb, A.; Ali, A.; Khan, A.; Afzal, S.; Khan, G.

2010-01-01

Background: The Chiari Malformation I (CMI) is a disorder of uncertain origin that has been traditionally defined as downward herniation of the cerebellar tonsils through the foramen magnum. The anomaly is a leading cause of syringomyelia and occurs in association with osseous abnormalities at the cranio vertebral junction. In contrast to other Chiari malformations, CMI tends to present in the second or third decade of life and is sometimes referred to as the 'adult-type' Chiari malformation. The objective was to document clinical and radiological findings in Arnold Chiari Malformation-I. Method: This was a descriptive study carried out in Ayub Teaching Hospital Abbottabad at Neurosurgery Department during July 2008 - July 2010. We examined a prospective cohort of 60 symptomatic patients. All patients underwent magnetic resonance imaging of the head and spine. Results: There were 40 female and 20 male patients. The age of onset was 24.9 +- 15.8 years. Common associated radiological problems included syringomyelia (60%), scoliosis (25%), and basilar invagination (12%), increased cervical lordosis 5 (8.5%), and Klippel Feil syndrome 2 (3.3%). The most consistent magnetic resonance imaging findings were obliteration of the retrocerebellar cerebrospinal fluid spaces (70% patients), tonsillar herniation of at least 5 mm (100% patients), and varying degrees of post fossa anomalies. Linical manifestations were headaches, pseudotumor-like episodes, a Meniere's disease-like syndrome, lower cranial nerve signs, and spinal cord disturbances in the absence of syringomyelia. Conclusion: These data support accumulating evidence that CMI is a disorder of the para-axial mesoderm that is characterised by underdevelopment of the posterior cranial fossa and overcrowding of the normally developed hindbrain. Tonsillar herniation of less than 5 mm does not exclude the diagnosis. Clinical manifestations of CMI seem to be related to cerebrospinal fluid disturbances (which are responsible

Clinical and radiological findings in arnold chiari malformation

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Khan, A A; Bhatti, S N; Ahmed, E; Aurangzeb, A; Ali, A; Khan, A; Afzal, S; Khan, G [Ayub Medical College, Abbottabad (Pakistan). Department of Neurosurgery

2010-04-15

Background: The Chiari Malformation I (CMI) is a disorder of uncertain origin that has been traditionally defined as downward herniation of the cerebellar tonsils through the foramen magnum. The anomaly is a leading cause of syringomyelia and occurs in association with osseous abnormalities at the cranio vertebral junction. In contrast to other Chiari malformations, CMI tends to present in the second or third decade of life and is sometimes referred to as the 'adult-type' Chiari malformation. The objective was to document clinical and radiological findings in Arnold Chiari Malformation-I. Method: This was a descriptive study carried out in Ayub Teaching Hospital Abbottabad at Neurosurgery Department during July 2008 - July 2010. We examined a prospective cohort of 60 symptomatic patients. All patients underwent magnetic resonance imaging of the head and spine. Results: There were 40 female and 20 male patients. The age of onset was 24.9 +- 15.8 years. Common associated radiological problems included syringomyelia (60%), scoliosis (25%), and basilar invagination (12%), increased cervical lordosis 5 (8.5%), and Klippel Feil syndrome 2 (3.3%). The most consistent magnetic resonance imaging findings were obliteration of the retrocerebellar cerebrospinal fluid spaces (70% patients), tonsillar herniation of at least 5 mm (100% patients), and varying degrees of post fossa anomalies. Linical manifestations were headaches, pseudotumor-like episodes, a Meniere's disease-like syndrome, lower cranial nerve signs, and spinal cord disturbances in the absence of syringomyelia. Conclusion: These data support accumulating evidence that CMI is a disorder of the para-axial mesoderm that is characterised by underdevelopment of the posterior cranial fossa and overcrowding of the normally developed hindbrain. Tonsillar herniation of less than 5 mm does not exclude the diagnosis. Clinical manifestations of CMI seem to be related to cerebrospinal fluid disturbances (which are responsible

CT findings in Arnold-Chiari malformation

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Tanaka, Y.; Nakamura, S. (Aichi Prefecture Colony, Kasugai (Japan). Central Hospital); Yamada, H.; Kageyama, N.

1981-12-01

CT scans of Arnold-Chiari malformations demonstrate many abnormal findings that are considered to be specific for this type of malformation. Fifty patients with Arnold-Chiari malformations were studied, and their CT findings were analyzed. This number included 14 preshunted neonatal cases and 36 post-shunted infantile cases. Craniolacunia was recognized only in the neonatal cases, but other skull changes, including scaphocephaly and petrous scalloping, were found more frequently in the infantile cases. The posterior fossa abnormality was composed of several specific changes, such as a non-visualized fourth ventricle, a lateral or upward growth of the cerebellum, or a beaking deformity of the midbrain. These findings were far more common in the infantile cases. However, in 7 neonatal cases on which CT cisternography was performed, these posterior fossa changes were well recognized in the majority of cases. Hydrocephalus was found in all cases. In half of the post-shunted infantile cases, the lateral ventricles were markedly collapsed. Characteristic features of the lateral ventricles, such as a protruding of the caudate nuclei, a pointing of the frontal and/or occipital horns, an absent septum pellucidum, or dominently dilated occipital horns, were commonly found in both neonatal and infantile cases. The subarachnoid space was remarkably widened at the retrothalamic cistern and/or the interhemispheric fissure in many cases.

The Role of Cine Flow Magnetic Resonance Imaging in Patients with Chiari 0 Malformation.

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Ozsoy, Kerem Mazhar; Oktay, Kadir; Cetinalp, Nuri Eralp; Gezercan, Yurdal; Erman, Tahsin

2018-01-01

To define the role of phase-contrast cine magnetic resonance imaging (MRI) in deciding the therapeutic strategy and underlying pathophysiology resulting in syrinx formation in patients with Chiari type 0 malformation. Seven patients who were admitted to our clinic with the diagnosis of Chiari 0 malformation from January 2005 to July 2016 were enrolled in the study. All patients underwent a detailed preoperative neurological examination. Entire neuroaxis MRI and phase-contrast cine MRI were obtained preoperatively and postoperatively. Seven patients (5 female and 2 male) with Chiari type 0 malformation fulfilled the inclusion criteria. All of the patients had absent cine flow at the craniovertebral junction except two patients. These five patients underwent surgical interventions; suboccipital decompression and duraplasty. All of them showed both clinical and radiological improvement in the postoperative period. Cine flow MRI appears to be a useful tool in the management of patients with Chiari 0 malformation. There was a good correlation between the clinical presentation and cine flow preoperatively, and between clinical improvement and cine flow in the postoperative period.

Quantitative analysis of Chiari-like malformation and syringomyelia in the Griffon Bruxellois dog.

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Susan P Knowler

Full Text Available This study aimed to develop a system of quantitative analysis of canine Chiari-like malformation and syringomyelia on variable quality MRI. We made a series of measurements from magnetic resonance DICOM images from Griffon Bruxellois dogs with and without Chiari-like malformation and syringomyelia and identified several significant variables. We found that in the Griffon Bruxellois dog, Chiari-like malformation is characterized by an apparent shortening of the entire cranial base and possibly by increased proximity of the atlas to the occiput. As a compensatory change, there appears to be an increased height of the rostral cranial cavity with lengthening of the dorsal cranial vault and considerable reorganization of the brain parenchyma including ventral deviation of the olfactory bulbs and rostral invagination of the cerebellum under the occipital lobes.

Scoliosis and Syringomyelia With Chiari Malformation After Lumbar Shunting

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Hsin-Hung Chen

2010-07-01

Full Text Available Unsteady gait was noted in a 2-year-old boy with a lumboperitoneal (LP shunt that had been inserted 1 year earlier for increased head circumference caused by communicating hydrocephalus. Scoliosis was also noted during postoperative follow-up. Magnetic resonance imaging revealed new hindbrain tonsillar herniation and an extensive syrinx from C3 to L1. The malfunctioning LP shunt was removed and posterior fossa decompression with ventriculoperitoneal shunt insertion was performed. The unsteady gait recovered completely and scoliosis improved. Magnetic resonance imaging demonstrated resolution of the syrinx and tonsillar herniation. Acquired Chiari I malformation after LP shunt is well documented; usually, patients have no symptoms. This is the first report to have all the cause and effect mechanisms among syringomyelia, scoliosis and Chiari I malformation in 1 patient. We review the literature and discuss the possible mechanisms.

Symptomatic Chiari malformation in infancy and adolescence; Cine-MRI and clinical evaluation

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Fukushima, Takeo; Matsuda, Toshihiro; Tsugu, Hitoshi; Sakamoto, Seisaburou; Tomonaga, Masamichi; Asakawa, Koji; Mitsudome, Akihisa (Fukuoka Univ. (Japan). School of Medicine); Hashimoto, Takahisa

1994-04-01

Of the 7 children and adolescents with Chiari malformation reported here 5 had Chiari type 1 and 2 had Chiari type 2 disease. All 5 Chiari type 1 patients had syringomyelia and scoliosis, but the Chiari type 2 patients did not. All the patients except one with localized syringomyelia (case 3) underwent posterior decompression with suboccipital craniectomy, upper cervical laminectomy and duraplasty, and their clinical signs and symptoms improved. Case 3 received a syringo-subarachnoid shunt and improved clinically. Motor function was restored better than sensory function. Cranial nerve signs were cleared up in the Chiari type 2 patients. In the Chiari type 1 patients postoperative neurological improvement correlated well with the collapse of syringomyelia. Cine MR imaging was useful in the evaluation of CSF dynamics at the cranio-vertebral junction and in the syringomyelic cavity before and after surgery. (author).

Difficult intubation in a parturient with syringomyelia and Arnold–Chiari malformation: Use of Airtraq™ laryngoscope

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Mustapha, Bensghir; Chkoura, K.; Elhassani, M.; Ahtil, R.; Azendour, H.; Kamili, N. Drissi

2011-01-01

Anesthetic technique in parturient with syringomyelia and Arnold–Chiari malformation is variable depending on the teams. Difficult intubation is one of the risks when general anesthesia is opted. Different devices have been used to manage the difficult intubation in pregnant women. We report the use of Airtraq™ laryngoscope after failed standard laryngoscopy in a parturient with syringomyelia and Arnold–Chiari type I malformation. PMID:22144932

Difficult intubation in a parturient with syringomyelia and Arnold-Chiari malformation: Use of Airtraq™ laryngoscope

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Bensghir Mustapha

2011-01-01

Full Text Available Anesthetic technique in parturient with syringomyelia and Arnold-Chiari malformation is variable depending on the teams. Difficult intubation is one of the risks when general anesthesia is opted. Different devices have been used to manage the difficult intubation in pregnant women. We report the use of Airtraq™ laryngoscope after failed standard laryngoscopy in a parturient with syringomyelia and Arnold-Chiari type I malformation.

Posterior Fossa Decompression with Duraplasty in Chiari-1 Malformations

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Rehman, L.; Akbar, H.; Bokhari, I.; Babar, A. K.; Hahim, A. S. M.; Arain, S. H.

2015-01-01

Objective: To evaluate the symptomatic outcome after PFD (Posterior Fossa Decompression) with duraplasty in Chiari-1 malformations. Study Design: Case series. Place and Duration of Study: Department of Neurosurgery, JPMC, Karachi, from July 2008 to September 2012. Methodology: This included 21 patients of Chiari 1 malformations admitted in department through OPD with clinical features of headache, neck pain, numbness, neurological deficit, and syringomyelia. Diagnosis was confirmed by MRI. PFD followed by C1 laminectomy with duraplasty was done in all cases and symptomatic outcome was assessed in follow-up clinic. Results: Among 21 patients, 13 were females and 8 were males. Age ranged from 18 to 40 years. All the patients had neck pain and numbness in hands. Only 3 patients had weakness of all four limbs and 12 with weakness of hands. Symptoms evolved over a mean of 12 months. Syringomyelia was present in all cases. All patients underwent posterior fossa decompression with duraplasty with an additional C1 laminectomy and in 2 cases C2 laminectomy was done. Syringo-subarachnoid shunt was placed in one patient and ventriculo-peritoneal shunt was placed in 2 patients. Pain was relieved in all cases. Weakness was improved in all cases and numbness was improved in 19 cases. Syringomyelia was improved in all cases. Postoperative complications included CSF leak in 2 patients and wound infection in one patient. However, there was no mortality. Conclusion: Posterior fossa decompression with duraplasty is the best treatment option for Chiari-1 malformations because of symptomatic improvement and less chances of complications. (author)

Relationship between Cough-Associated Changes in CSF Flow and Disease Severity in Chiari I Malformation: An Exploratory Study Using Real-Time MRI.

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Bezuidenhout, A F; Khatami, D; Heilman, C B; Kasper, E M; Patz, S; Madan, N; Zhao, Y; Bhadelia, R A

2018-05-10

Currently no quantitative objective test exists to determine disease severity in a patient with Chiari I malformation. Our aim was to correlate disease severity in symptomatic patients with Chiari I malformation with cough-associated changes in CSF flow as measured with real-time MR imaging. Thirteen symptomatic patients with Chiari I malformation (tonsillar herniation of ≥5 mm) were prospectively studied. A real-time, flow-sensitized pencil-beam MR imaging scan was used to measure CSF stroke volume during rest and immediately following coughing and relaxation periods (total scan time, 90 seconds). Multiple posterior fossa and craniocervical anatomic measurements were also obtained. Patients were classified into 2 groups by neurosurgeons blinded to MR imaging measurements: 1) nonspecific Chiari I malformation (5/13)-Chiari I malformation with nonspecific symptoms like non-cough-related or mild occasional cough-related headache, neck pain, dizziness, paresthesias, and/or trouble swallowing; 2) specific Chiari I malformation (8/13)-patients with Chiari I malformation with specific symptoms and/or objective findings like severe cough-related headache, myelopathy, syringomyelia, and muscle atrophy. The Spearman correlation was used to determine correlations between MR imaging measurements and disease severity, and both groups were also compared using a Mann-Whitney U test. There was a significant negative correlation between the percentage change in CSF stroke volume (resting to postcoughing) and Chiari I malformation disease severity ( R = 0.59; P = .03). Mann-Whitney comparisons showed the percentage change in CSF stroke volume (resting to postcoughing) to be significantly different between patient groups ( P = .04). No other CSF flow measurement or anatomic measure was significantly different between the groups. Our exploratory study suggests that assessment of CSF flow response to a coughing challenge has the potential to become a valuable objective noninvasive

Surgical treatment of Chiari malformation complicated with basilar impression

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Yuan MA

2011-02-01

Full Text Available Objective To evaluate the therapeutic effect of small craniotomic posterior fossa decompression combined with occipital-cervical bone graft fusion and internal fixation on Chiari malformation complicated with basilar impression.Methods The clinical data of 16 cases(7 males and 9 females,aged 17 to 65 years,mean 36.4 of Chiari malformation complicated with basilar impression from 2006 to 2010 were retrospectively analyzed.The diagnoses for all the patients were confirmed by radiology.Small craniotomic posterior fossa decompression was performed in all patients,cerebellar tonsils were resected,and then one-stage occipital-cervical bone graft fusion using autogenous iliac bone and internal wiring fixation were performed.Neck support was used for 3 months after surgery.Results Symptoms were significantly improved in all cases after surgical operation.No patient died or infected.Cerebrospinal fluid leakage was found at draining site in one case.Transient pain of scapular and chest was found in one case and disappeared spontaneously.A 6-months follow-up showed that 6 patients were cured,9 improved and 1 unchanged according to Symon and Lavender standard.Postoperative MRI showed the reconstructed cisterna magna was clear in all patients,no cerebellar ptosis was found,and the occipital-cervical graft bone was fused.Conclusion In patients with Chiari malformation complicated with basilar impression,small craniotomic posterior fossa decompression combined with one-stage occipital-cervical bone graft fusion and internal wiring fixation has a clear and definite effect,it can increase the volume of posterior fossa and alleviate the ventral brain stem compression simultaneously,and reconstruct the stability of cranio-cervical junction.

MRI tight posterior fossa sign for prenatal diagnosis of Chiari type II malformation

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Ando, Kumiko; Ishikura, Reiichi; Ogawa, Masayo; Takada, Yoshihiro; Yamamoto, Satoshi; Fujiwara, Masayuki; Hirota, Shozo [Hyogo College of Medicine, Department of Radiology, Nishinomiya, Hyogo (Japan); Shakudo, Miyuki [Osaka City General Hospital, Department of Radiology, Osaka (Japan); Tanaka, Hiroyuki [Hyogo College of Medicine, Department of Gynecology, Nishinomiya (Japan); Minagawa, Kyoko [Hyogo College of Medicine, Department of Pediatrics, Nishinomiya (Japan)

2007-12-15

Chiari type II malformation (CMII) is one of three hindbrain malformations that display hydrocephalus. We have observed that cerebrospinal fluid (CSF) signal in the posterior fossa, which is always apparent on normal fetal MR images, is not visible in a fetus with CMII. We use the term 'tight posterior fossa' for this MR imaging finding, and evaluate the diagnostic value of this finding on fetal MR images. Included in the study were 21 fetuses which underwent brain MR imaging at 1.5 T using two-dimensional balanced turbo-field-echo (2-D balanced-TFE) in the axial and sagittal planes. Postnatal diagnoses were CMII (n=5), CNS abnormalities other than CMII (n=8), and no abnormality (n=8). A tight posterior fossa was defined as an absent or slit-like water signal space around the hindbrain in the posterior fossa on both sagittal and axial MR images. All CMII fetuses displayed a tight posterior fossa on MR images. Hydrocephalus was visualized in all CMII fetuses and myelomeningocele in four fetuses, but hindbrain herniation was visualized only in two of five fetuses. The CSF signal surrounding the hindbrain was clearly visible in all the other 16 fetuses, including five with hydrocephalus not associated with CMII, although it was slightly narrower in a fetus with a cloverleaf skull than in the normal fetuses. Tight posterior fossa in the presence of hydrocephalus is a useful and characteristic finding of CMII on fetal MRI. (orig.)

MRI tight posterior fossa sign for prenatal diagnosis of Chiari type II malformation

International Nuclear Information System (INIS)

Ando, Kumiko; Ishikura, Reiichi; Ogawa, Masayo; Takada, Yoshihiro; Yamamoto, Satoshi; Fujiwara, Masayuki; Hirota, Shozo; Shakudo, Miyuki; Tanaka, Hiroyuki; Minagawa, Kyoko

2007-01-01

Chiari type II malformation (CMII) is one of three hindbrain malformations that display hydrocephalus. We have observed that cerebrospinal fluid (CSF) signal in the posterior fossa, which is always apparent on normal fetal MR images, is not visible in a fetus with CMII. We use the term 'tight posterior fossa' for this MR imaging finding, and evaluate the diagnostic value of this finding on fetal MR images. Included in the study were 21 fetuses which underwent brain MR imaging at 1.5 T using two-dimensional balanced turbo-field-echo (2-D balanced-TFE) in the axial and sagittal planes. Postnatal diagnoses were CMII (n=5), CNS abnormalities other than CMII (n=8), and no abnormality (n=8). A tight posterior fossa was defined as an absent or slit-like water signal space around the hindbrain in the posterior fossa on both sagittal and axial MR images. All CMII fetuses displayed a tight posterior fossa on MR images. Hydrocephalus was visualized in all CMII fetuses and myelomeningocele in four fetuses, but hindbrain herniation was visualized only in two of five fetuses. The CSF signal surrounding the hindbrain was clearly visible in all the other 16 fetuses, including five with hydrocephalus not associated with CMII, although it was slightly narrower in a fetus with a cloverleaf skull than in the normal fetuses. Tight posterior fossa in the presence of hydrocephalus is a useful and characteristic finding of CMII on fetal MRI. (orig.)

Do the cerebellar tonsils move during flexion and extension of the neck in patients with Chiari I malformation? A radiological study with clinical implications.

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Tubbs, R Shane; Kirkpatrick, Christina M; Rizk, Elias; Chern, Joshua J; Oskouian, Rod J; Oakes, W Jerry

2016-03-01

In the past, diagnosis of the Chiari I malformation has primarily been made on midsagittal MRI. We hypothesized that based on the frequent presentation of opisthotonos in patients with hindbrain hernia (primarily Chiari II malformation but sometimes Chiari I malformation) that the hyperextension might be a compensatory technique used by such patients to bring the cerebellar tonsils up out of the cervical spine. This prospective study reviewed imaging of patients with Chiari I malformation who underwent flexion/extension MRI for evaluation of their hindbrain herniation. Age-matched controls were used for comparison. In general, there was elevation of the cerebellar tonsils with extension and increased descent with flexion of the cervical spine. In 72 % of patients, flexion of the neck resulted in descent of the cerebellar tonsils. In 64 % of patients, extension of the neck resulted in ascent of the cerebellar tonsils. In the 14 patients with an associated syrinx, 71 % were found to have caudal movement of the cerebellar tonsils with neck flexion, and only 43 % were observed to have any movement of the cerebellar tonsils in neck extension compared to patients without a syrinx where ascent of the tonsils was seen in only nine during neck extension. Two patients were observed to have the reverse finding of ascent of the cerebellar tonsils with neck flexion and descent of the cerebellar tonsils with neck extension. Five patients had no movement of the cerebellar tonsils in either flexion or extension of the neck, and one of these had a small syrinx. Although minimal and not in all patients, we observed elevation of the herniated cerebellar tonsils with extension of the cervical spine in patients with Chiari I malformation. This finding provides evidence as to why some patients with hindbrain herniation present with opisthotonos and supports earlier findings that CSF flow is reduced at the craniocervical junction in flexion in patients with Chiari I malformation.

Surgical treatment of Chiari malformation: review and progress

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ZHANG Yuan-zheng

2012-08-01

Full Text Available The surgical treatment of Chiari malformation (CM began in 1932. With the advance of medical technology, the surgical technique of CM is also in constant improvement. But due to its pathogenesis has not yet clear, there is no accepted optimal method, and different levels of the operation is still controversial. The author reviewed the concept, pathogenesis, diagnosis and surgical treatment of CM. The hot topics and new technological application were also reviewed in this article.

Malformations of the craniocervical junction (chiari type I and syringomyelia: classification, diagnosis and treatment

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García-Ramos Rocío

2009-12-01

Full Text Available Abstract Chiari disease (or malformation is in general a congenital condition characterized by an anatomic defect of the base of the skull, in which the cerebellum and brain stem herniate through the foramen magnum into the cervical spinal canal. The onset of Chiari syndrome symptoms usually occurs in the second or third decade (age 25 to 45 years. Symptoms may vary between periods of exacerbation and remission. The diagnosis of Chiari type I malformation in patients with or without symptoms is established with neuroimaging techniques. The most effective therapy for patients with Chiari type I malformation/syringomyelia is surgical decompression of the foramen magnum, however there are non-surgical therapy to relieve neurophatic pain: either pharmacological and non-pharmacological. Pharmacological therapy use drugs that act on different components of pain. Non-pharmacological therapies are primarly based on spinal or peripheral electrical stimulation. It is important to determine the needs of the patients in terms of health-care, social, educational, occupational, and relationship issues, in addition to those derived from information aspects, particularly at onset of symptoms. Currently, there is no consensus among the specialists regarding the etiology of the disease or how to approach, monitor, follow-up, and treat the condition. It is necessary that the physicians involved in the care of people with this condition comprehensively approach the management and follow-up of the patients, and that they organize interdisciplinary teams including all the professionals that can help to increase the quality of life of patients.

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

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

2009-08-01

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

Evolutionary hypothesis for Chiari type I malformation.

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Fernandes, Yvens Barbosa; Ramina, Ricardo; Campos-Herrera, Cynthia Resende; Borges, Guilherme

2013-10-01

Chiari I malformation (CM-I) is classically defined as a cerebellar tonsillar herniation (≥5 mm) through the foramen magnum. A decreased posterior fossa volume, mainly due to basioccipital hypoplasia and sometimes platybasia, leads to posterior fossa overcrowding and consequently cerebellar herniation. Regardless of radiological findings, embryological genetic hypothesis or any other postulations, the real cause behind this malformation is yet not well-elucidated and remains largely unknown. The aim of this paper is to approach CM-I under a broader and new perspective, conjoining anthropology, genetics and neurosurgery, with special focus on the substantial changes that have occurred in the posterior cranial base through human evolution. Important evolutionary allometric changes occurred during brain expansion and genetics studies of human evolution demonstrated an unexpected high rate of gene flow interchange and possibly interbreeding during this process. Based upon this review we hypothesize that CM-I may be the result of an evolutionary anthropological imprint, caused by evolving species populations that eventually met each other and mingled in the last 1.7 million years. Copyright © 2013 Elsevier Ltd. All rights reserved.

Pathogenesis of cerebral malformations in human fetuses with meningomyelocele

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Brouwer Oebele F

2008-03-01

Full Text Available Abstract Background Fetal spina bifida aperta (SBA is characterized by a spinal meningomyelocele (MMC and associated with cerebral pathology, such as hydrocephalus and Chiari II malformation. In various animal models, it has been suggested that a loss of ventricular lining (neuroepithelial/ependymal denudation may trigger cerebral pathology. In fetuses with MMC, little is known about neuroepithelial/ependymal denudation and the initiating pathological events. The objective of this study was to investigate whether neuroepithelial/ependymal denudation occurs in human fetuses and neonates with MMC, and if so, whether it is associated with the onset of hydrocephalus. Methods Seven fetuses and 1 neonate (16–40 week gestational age, GA with MMC and 6 fetuses with normal cerebral development (22–41 week GA were included in the study. Identification of fetal MMC and clinical surveillance of fetal head circumference and ventricular width was performed by ultrasound (US. After birth, MMC was confirmed by histology. We characterized hydrocephalus by increased head circumference in association with ventriculomegaly. The median time interval between fetal cerebral ultrasound and fixing tissue for histology was four days. Results At 16 weeks GA, we observed neuroepithelial/ependymal denudation in the aqueduct and telencephalon together with sub-cortical heterotopias in absence of hydrocephalus and/or Chiari II malformation. At 21–34 weeks GA, we observed concurrence of aqueductal neuroepithelial/ependymal denudation and progenitor cell loss with the Chiari II malformation, whereas hydrocephalus was absent. At 37–40 weeks GA, neuroepithelial/ependymal denudation coincided with Chiari II malformation and hydrocephalus. Sub-arachnoidal fibrosis at the convexity was absent in all fetuses but present in the neonate. Conclusion In fetal SBA, neuroepithelial/ependymal denudation in the telencephalon and the aqueduct can occur before Chiari II malformation

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

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Şaban Yalçın

2012-06-01

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

Comparison of Porcine and Bovine Collagen Dural Substitutes in Posterior Fossa Decompression for Chiari I Malformation in Adults.

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Lee, Christine K; Mokhtari, Tara; Connolly, Ian D; Li, Gordon; Shuer, Lawrence M; Chang, Steven D; Steinberg, Gary K; Hayden Gephart, Melanie

2017-12-01

Posterior fossa decompression surgeries for Chiari malformations are susceptible to postoperative complications such as pseudomeningocele, external cerebrospinal fluid (CSF) leak, and meningitis. Various dural substitutes have been used to improve surgical outcomes. This study examined whether the collagen matrix dural substitute type correlated with the incidence of postoperative complications after posterior fossa decompression in adult patients with Chiari I malformations. A retrospective cohort study was conducted of 81 adult patients who underwent an elective decompressive surgery for treatment of symptomatic Chiari I malformations, with duraplasty involving a dural substitute derived from either bovine or porcine collagen matrix. Demographics and treatment characteristics were correlated with surgical outcomes. A total of 81 patients were included in the study. Compared with bovine dural substitute, porcine dural substitute was associated with a significantly higher risk of pseudomeningocele occurrence (odds ratio, 5.78; 95% confidence interval, 1.65-27.15; P = 0.01) and a higher overall complication rate (odds ratio, 3.70; 95% confidence interval, 1.23-12.71; P = 0.03) by univariate analysis. There was no significant difference in the rate of meningitis, repeat operations, or overall complication rate between the 2 dural substitutes. In addition, estimated blood loss was a significant risk factor for meningitis (P = 0.03). Multivariate analyses again showed that porcine dural substitute was associated with pseudomeningocele occurrence, although the association with higher overall complication rate did not reach significance. Dural substitutes generated from porcine collagen, compared with those from bovine collagen, were associated with a higher likelihood of pseudomeningocele development in adult patients undergoing Chiari I malformation decompression and duraplasty. Copyright © 2017 Elsevier Inc. All rights reserved.

[Oropharyngeal dysphagia associated with Chiari I malformation and syringomyelia J].

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Cortés-Medina, Julio César; Cárdenas-Lara, Armando; Guerrero-Rascón, Carlos Alberto; Rodríguez-Bautista, Heber

2014-01-01

Dysphagia associated with neurological disease is an important clinical manifestation in the diagnosis of injury that justifies the compression of the brainstem and lower cranial nerves. To emphasize the study of dysphagia in a patient with Chiari I malformation associated with syringomyelia in the absence of primary gastroenterological symptoms. We describe the case of a 62 year-old woman with oropharyngeal dysphagia of six years of evolution, cervicobrachialgia, ptosis and facial diplexia. Magnetic resonance imaging is an essential element for establishing the etiologic diagnosis of neurogenic dysphagia.

Chiari Type I Malformations in Young Adults: Implications for the College Health Practitioner

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Elam, Mary Jane; Vaughn, John A.

2011-01-01

In this article, the authors describe 2 cases of Chiari type I malformation (CM-I) in students presenting to a college health center within a 6-month period. A review of CM-I, including epidemiology, typical presentation, evaluation, and management, is followed by a discussion of the clinical and functional implications of the disorder in an…

Management of uncommon secondary trigeminal neuralgia related to a rare Arnold Chiari type I malformation

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Zafar Ali Khan

2017-12-01

Full Text Available Background Trigeminal neuralgia (TN may sometimes present secondary to an intra-cranial cause. Arnold Chiari Malformation (ACM is downward herniation of the cerebellar tonsils through the foramen magnum that may be a cause of TN like pain in very rare cases. Aims The aim of this brief report is to suggest the proper management of uncommon secondary trigeminal neuralgia related to a rare Arnold Chiari type I malformation. Methods A male patient presented electric shock like stabbing pain on the right side of the face for more than ten years. The symptoms were typical of trigeminal neuralgia except that there was loss of corneal reflex on the right side and the patient also complained of gait & sleep disturbances. Complex and multilevel diagnosis was made. Results A multiplanar imaging through brain acquiring T1/T2W1 revealed ACM Type I Malformation with caudal displacement of cerebellar tonsils through foramen magnum. Conclusion Dental surgeons and oral and Maxillofacial Surgeons should exclude intra-cranial causes by Magnetic Resonance Imaging(MRI in patients of TN presenting with loss of corneal reflex, gait and sleep disturbances due to night time pain episodes.

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

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Majid Ghasemi

2011-01-01

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

The odontoid process invagination in normal subjects, Chiari malformation and Basilar invagination patients: Pathophysiologic correlations with angular craniometry

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Ferreira, J?nio A.; Botelho, Ricardo V.

2015-01-01

Background: Craniometric studies have shown that both Chiari malformation (CM) and basilar invagination (BI) belong to a spectrum of malformations. A more precise method to differentiate between these types of CVJM is desirable. The Chamberlain′s line violation (CLV) is the most common method to identify BI. The authors sought to clarify the real importance of CLV in the spectrum of craniovertebral junction malformations (CVJM) and to identify possible pathophysiological relationships. Me...

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

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Jea Andrew

2011-08-01

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

The incidence of Arnold–Chiari malformation in neurological practice

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E. A. Kantimirova

2015-01-01

Full Text Available Arnold-Chiari malformation (ACM is a group of congenital hindbrain malformations affecting the structural relationships between the cerebellum, brain stem, top cervical spinal cord, and bones of the skull base. In clinical practice, ACM types 0 and 1 are more common and types 2, 3, and 4 belong to rare severe (often fatal congenital malformations.Objective: to study gender differences in the incidence of ACM types 0 and 1 in outpatient neurological practice.Patients and methods. A total 2039 case records of outpatients who had visited a neurologist of the Krasnoyarsk University clinic in 2008–2014 were analyzed. Neurological and neuroradiological (1.5 Tesla brain magnetic resonance imaging, phase-contrast spinal cerebral fluid flow imaging diagnostic techniques were used. 3.4% (70/2039 of cases were randomized according to the criteria of inclusion and exception. An entire sample included 70 ACM patients (median age, 25 [17; 34] years (30 (42.8–7.1% men and 40 (57.2–7.1% women.Results. There was an increase in the incidence of ACM type 1 in the women than in the men. Conclusion. It is necessary to develop a new strategy for the prophylactic medical examination of patients with ACM to improve primary and specialized outpatient health care.

Diagnosis and surgical treatment of a Chiari I-like malformation in an African lion (Panthera leo).

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McCain, Stephanie; Souza, Marcy; Ramsay, Ed; Schumacher, Juergen; Hecht, Silke; Thomas, William

2008-09-01

A 13-mo-old intact male African lion (Panthera leo) presented with a 3-mo history of lethargy, ventral flexion of the neck, abnormal vocalization, and ataxia. Hemogram and serum biochemistries were within normal limits except for the presence of hypokalemia (2.7 mEq/L) and hypochloridemia (108 mEq/L). When no improvement was noted with oral potassium gluconate supplementation, a computed tomography scan of the brain and skull was performed, and no abnormalities were noted. However, magnetic resonance imaging detected occipital bone thickening, crowding of the caudal cranial fossa with cerebellar compression and herniation, and cervical syringohydromyelia, which was consistent with a Chiari I-like malformation. Foramen magnum decompression was performed to relieve the compression of the cerebellum. The animal recovered well with subsequent resolution of clinical signs. Hypovitaminosis A has been proposed previously as the underlying etiology for this malformation in lions with similar clinical presentations. This lion's serum and liver vitamin A concentrations were low (100 ng/ml and 25.31 microg/g, respectively) compared to concentrations reported for domestic carnivores and support hypovitaminosis A as the underlying cause of this animal's Chiari I-like malformation.

Diagnosis of Chiari III malformation by second trimester fetal MRI with postnatal MRI and CT correlation

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Smith, Alice B.; Glenn, Orit A.; Gupta, Nalin; Otto, Carl

2007-01-01

We report a case of Chiari III malformation diagnosed by fetal MRI. Ultrasound (US) performed at a gestational age of 18 weeks demonstrated a posterior skull base cyst. Repeat US at 19 weeks demonstrated neural tissue in the cyst, consistent with an encephalocele. MR imaging at 23 weeks confirmed the presence of an occipital encephalocele, demonstrated additional bony defect in the upper cervical spine, and identified abnormal morphology and position of the brainstem consistent with the diagnosis of Chiari III. Postnatal MRI and CT confirmed the fetal MRI findings and demonstrate the utility of fetal MRI in the early evaluation of songraphically detected posterior fossa abnormalities. (orig.)

Diagnosis of Chiari III malformation by second trimester fetal MRI with postnatal MRI and CT correlation

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Smith, Alice B.; Glenn, Orit A. [University of California, San Francisco, Department of Radiology, San Francisco, CA (United States); Gupta, Nalin [University of California, San Francisco, Department of Neurosurgery, San Francisco, CA (United States); Otto, Carl [California Pacific Medical Center, Department of Perinatology, San Francisco, CA (United States)

2007-10-15

We report a case of Chiari III malformation diagnosed by fetal MRI. Ultrasound (US) performed at a gestational age of 18 weeks demonstrated a posterior skull base cyst. Repeat US at 19 weeks demonstrated neural tissue in the cyst, consistent with an encephalocele. MR imaging at 23 weeks confirmed the presence of an occipital encephalocele, demonstrated additional bony defect in the upper cervical spine, and identified abnormal morphology and position of the brainstem consistent with the diagnosis of Chiari III. Postnatal MRI and CT confirmed the fetal MRI findings and demonstrate the utility of fetal MRI in the early evaluation of songraphically detected posterior fossa abnormalities. (orig.)

A unifying hypothesis for hydrocephalus, Chiari malformation, syringomyelia, anencephaly and spina bifida

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Williams Helen

2008-04-01

Full Text Available Abstract This work is a modified version of the Casey Holter Memorial prize essay presented to the Society for Research into Hydrocephalus and Spina Bifida, June 29th 2007, Heidelberg, Germany. It describes the origin and consequences of the Chiari malformation, and proposes that hydrocephalus is caused by inadequate central nervous system (CNS venous drainage. A new hypothesis regarding the pathogenesis, anencephaly and spina bifida is described. Any volume increase in the central nervous system can increase venous pressure. This occurs because veins are compressible and a CNS volume increase may result in reduced venous blood flow. This has the potential to cause progressive increase in cerebrospinal fluid (CSF volume. Venous insufficiency may be caused by any disease that reduces space for venous volume. The flow of CSF has a beneficial effect on venous drainage. In health it moderates central nervous system pressure by moving between the head and spine. Conversely, obstruction to CSF flow causes localised pressure increases, which have an adverse effect on venous drainage. The Chiari malformation is associated with hindbrain herniation, which may be caused by low spinal pressure relative to cranial pressure. In these instances, there are hindbrain-related symptoms caused by cerebellar and brainstem compression. When spinal injury occurs as a result of a Chiari malformation, the primary pathology is posterior fossa hypoplasia, resulting in raised spinal pressure. The small posterior fossa prevents the flow of CSF from the spine to the head as blood enters the central nervous system during movement. Consequently, intermittent increases in spinal pressure caused by movement, result in injury to the spinal cord. It is proposed that posterior fossa hypoplasia, which has origins in fetal life, causes syringomyelia after birth and leads to damage to the spinal cord in spina bifida. It is proposed that hydrocephalus may occur as a result of

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

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José Alberto Gonçalves da Silva

1996-12-01

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

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

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Clark K. Choi

2013-01-01

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

Otto Mennicke (1876-) and the first description of skull base anomalies causing cerebellar tonsillar ectopia: one of the first mentions of the Chiari I malformation.

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Fries, Fabian N; Hendrix, Philipp; Brinker, Titus J; Loukas, Marios; Tubbs, R Shane

2017-05-01

Although Hans Chiari made significant and meaningful contributions to our understanding and classification of hindbrain herniations, others have also contributed to this knowledge. One figure who has been lost to history is Otto Mennicke. Herein, we discuss his role in our understanding of tonsillar ectopia and his life and connection to Hans Chiari. Our knowledge of what is now known as the Chiari malformations has been shaped by several clinicians including Otto Mennicke.

Klippel-Feil syndrome in association with Chiari zero malformation in the setting of acute traumatic spinal cord injury

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Cameron M. McDougall, MD FRCS(C

2017-09-01

Conclusion: This is the first report of a Chiari zero malformation associated with KFS. This patient was managed with an initial conservative approach and delayed posterior fossa decompression. There was steady improvement in his neurological function. This appears to represent a viable treatment approach.

Sports participation with Chiari I malformation.

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Strahle, Jennifer; Geh, Ndi; Selzer, Béla J; Bower, Regina; Himedan, Mai; Strahle, MaryKathryn; Wetjen, Nicholas M; Muraszko, Karin M; Garton, Hugh J L; Maher, Cormac O

2016-04-01

OBJECT There is currently no consensus on the safety of sports participation for patients with Chiari I malformation (CM-I). The authors' goal was to define the risk of sports participation for children with the imaging finding of CM-I. METHODS A prospective survey was administered to 503 CM-I patients at 2 sites over a 46-month period. Data were gathered on imaging characteristics, treatment, sports participation, and any sport-related injuries. Additionally, 81 patients completed at least 1 subsequent survey following their initial entry into the registry and were included in a prospective group, with a mean prospective follow-up period of 11 months. RESULTS Of the 503 CM-I patients, 328 participated in sports for a cumulative duration of 4641 seasons; 205 of these patients participated in contact sports. There were no serious or catastrophic neurological injuries. One patient had temporary extremity paresthesias that resolved within hours, and this was not definitely considered to be related to the CM-I. In the prospective cohort, there were no permanent neurological injuries. CONCLUSIONS No permanent or catastrophic neurological injuries were observed in CM-I patients participating in athletic activities. The authors believe that the risk of such injuries is low and that, in most cases, sports participation by children with CM-I is safe.

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

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

2018-04-01

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

The Association between Sleep-Disordered Breathing and Magnetic Resonance Imaging Findings in a Pediatric Cohort with Chiari 1 Malformation

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Reshma Amin

2015-01-01

Full Text Available BACKGROUND: The prevalence of sleep-disordered breathing (SDB reported in the literature for Chiari malformation type 1 (CM1 is uniformly high (24% to 70%. In Canada, there is limited access to pediatric polysomnography (PSG. Therefore, the identification of clinical features would be invaluable for triaging these children.

Surgical treatment of Arnold-Chiari malformation type I in an adult patient

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Marković Marko

2008-01-01

Full Text Available Background. Herniation of the cerebellar tonsils through the foramen magnum into the cervical spinal canal with obliteration of the cerebellomedullary cistern is the primary feature of Arnold-Chiari type I malformation (ACM I. It is considered to be congenital malformation, although there have been reported cases of an acquired form. Case report. We presented a female patient, 45-year old, with ACM I without syringomyelia as a rare and unusual clinical image, as well as the effect of decompressive surgery in the treatment of this malformation. The patient was admitted to the Department of Neurosurgery with clinical signs of truncal ataxia worsening during the last six years. Moderate quadriparesis with predominant lower extremity involvement and the signs of the cranial nerves damages occured during the last seven months before admission, with progressive clinical course up to the date of admission. Neurosurgical treatment that included suboccipital medial craniectomy with resection of posterior arch C1 vertebrae and C2 laminectomy resulted in a significant clinical improvement and a much better quality of life. Conclusion. Posterior craniovertebral decompression with microsurgical reduction of the cerebellar tonsils and placement of an artificial dural graft is a treatment of choice in severe forms of ACM I without syringomyelia. .

Sleep Disordered Breathing in Children and Adolescents with Chiari Malformation Type I

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Losurdo, Anna; Dittoni, Serena; Testani, Elisa; Di Blasi, Chiara; Scarano, Emanuele; Mariotti, Paolo; Paternoster, Giovanna; Di Rocco, Concezio; Massimi, Luca; Della Marca, Giacomo

2013-01-01

Study Objectives: Chiari malformation Type I (CM-I) has been associated with sleep disordered breathing (SDB). The aim of this study was to evaluate the prevalence of SDB in CM-I and its clinical correlates in a population of children and adolescents. Methods: Fifty-three consecutive children and adolescents affected by CM-I were enrolled (27 girls and 26 boys, mean age 10.3 ± 4.3, range: 3-18 years). All patients underwent neurological examination, MRI, and polysomnography (PSG). Otorhinolaryngologic clinical evaluation was performed in patients with polysomnographic evidence of sleep-related upper airway obstruction. Results: Mean size of the herniation was 9.5 ± 5.4 mm. Fourteen patients had syringomyelia, 5 had hydrocephalus, 31 presented neurological signs, 14 had epileptic seizures, and 7 reported poor sleep. PSG revealed SDB in 13 subjects. Patients with SDB, compared to those without SDB, had a higher prevalence hydrocephalus (p = 0.002), syringomyelia (p = 0.001), and neurological symptoms (p = 0.028). No significant difference was observed in age, gender, prevalence of epilepsy, and size of the herniation. Obstructive SDB was associated with syringomyelia (p = 0.004), whereas central SDB was associated with hydrocephalus (p = 0.034). Conclusions: In our population of CM-I patients the prevalence of SDB was 24%, lower than that reported in literature. Moreover, our findings suggest that abnormalities in cerebrospinal fluid dynamics in CM-I, particularly syringomyelia and hydro-cephalus, are associated with SDB. Citation: Losurdo A; Dittoni S; Testani E; Di Blasi C; Scarano E; Mariotti P; Paternoster G; Di Rocco C; Massimi L; Della Marca G. Sleep disordered breathing in children and adolescents with Chiari malformation Type I. J Clin Sleep Med 2013;9(4):371-377. PMID:23585753

Unilateral phrenic nerve stimulation for neurogenic hypoventilation in Arnold Chiari malformation

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Nitin Garg

2013-01-01

Full Text Available Long- term ventilator dependence in patients with neurogenic hypoventilation is associated with significant morbidity and restricts mobility. Diaphragmatic pacing by phrenic nerve stimulation (PNS is a viable alternative. This is a case report of patient with Arnold-Chiari malformation with extensive syrinx who had neurogenic hypoventilation during sleep even after foramen magnum decompression and resolution of the syrinx. Unilateral PNS was done using spinal cord stimulator. With intermittent stimulation for 8 h while asleep, patient could be weaned off the ventilator completely. At 2 years follow- up, patient is ambulant and has returned to his routine activities. PNS is a good treatment tool in patients with neurogenic hypoventilation. Spinal cord stimulator can be used with optimal results. This is first such reported case of using spinal cord stimulator for PNS from India.

Twelve years of chiari-like malformation and syringomyelia scanning in Cavalier King Charles Spaniels in the Netherlands : Towards a more precise phenotype

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Wijnrocx, Katrien; Van Bruggen, Leonie W L; Eggelmeijer, Wieteke; Noorman, Erik; Jacques, Arnold; Buys, Nadine; Janssens, Steven; Mandigers, Paul J J

2017-01-01

Chiari-like malformation (CM), syringomyelia (SM) and middle ear effusion (also called PSOM) are three conditions that frequently occur in Cavalier King Charles Spaniels (CKCS). Both CM and SM are currently screened in the Netherlands prior to breeding and are graded according to the British

MR imaging evaluation of congenital malformation of the spine

International Nuclear Information System (INIS)

Byrd, S.E.; Radkowski, M.A.; McLone, D.G.; Storrs, B.B.

1988-01-01

One hundred fifty children with congenital malformations of the spine were studied with MR imaging, US, and water-soluble myelography with CT. The malformations encountered included myelomeningoceles and Chiari II malformations, diastematomyelia, hydromyelia, arachnoid cyst, dermal sinus and dermoid, spinal lipomas and teratomas, tight filum terminale, anterior sacral meningoceles, lipomyelomeningoceles, myelocystocele, and severe scoliosis. MR imaging was the most effective modality in delineating these abnormalities. At times, real-time US and water-soluble CT myelography were required as adjuncts to MR imaging in delineating subtle spinal cord tethering, arachnoid cyst, diastematomyelia, and severe scoliosis

Nuclear magnetic resonance (NMR) imaging of Arnold-Chiari type I malformation with hydromyelia

International Nuclear Information System (INIS)

DeLaPaz, R.L.; Brady, T.J.; Buonanno, F.S.; New, P.F.; Kistler, J.P.; McGinnis, B.D.; Pykett, I.L.; Taveras, J.M.

1983-01-01

Saturation recovery nuclear magnetic resonance (NMR) images and metrizamide computed tomography (CT) scans were obtained in an adult patient with a clinical history suggestive of syringomyelia. Both NMR and CT studies showed low lying cerebellar tonsils. The CT study demonstrated central cavitation of the spinal cord from the midthoracic to midcervical levels but could not exclude an intramedullary soft tissue mass at the cervico-medullary junction. The NMR images in transverse, coronal, and sagittal planes demonstrated extension of an enlarged central spinal cord cerebrospinal fluid space to the cervico-medullary junction. This was felt to be strong evidence for exclusion of an intramedullary soft tissue mass and in favor of a diagnosis of Arnold-Chiari Type I malformation with hydromyelia. The noninvasive nature of spinal cord and cervico-medullary junction evaluation with NMR is emphasized

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

International Nuclear Information System (INIS)

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

2005-01-01

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

Chiari malformation and central sleep apnea syndrome: efficacy of treatment with adaptive servo-ventilation

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Jorge Marques do Vale

2014-10-01

Full Text Available The Chiari malformation type I (CM-I has been associated with sleep-disordered breathing, especially central sleep apnea syndrome. We report the case of a 44-year-old female with CM-I who was referred to our sleep laboratory for suspected sleep apnea. The patient had undergone decompressive surgery 3 years prior. An arterial blood gas analysis showed hypercapnia. Polysomnography showed a respiratory disturbance index of 108 events/h, and all were central apnea events. Treatment with adaptive servo-ventilation was initiated, and central apnea was resolved. This report demonstrates the efficacy of servo-ventilation in the treatment of central sleep apnea syndrome associated with alveolar hypoventilation in a CM-I patient with a history of decompressive surgery.

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

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

2015-01-01

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

Spinning, hurting, still, afraid: Living life spaces with Type I Chiari Malformation.

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Andrews, Gavin J

2018-01-31

Human geography's varied engagement with the brain has involved considerations of the way people know and respond to their environments, and their place-based experiences with emotions, mental illnesses and disorders, intellectual disabilities and particular neurological conditions. This paper argues however that this scholarship could be augmented by, and existing expertise be directed towards, considering physical brain abnormalities and injuries. As a case in point it considers the spatial experience of living with Type 1 Chiari Malformation. Through interviews with four sufferers, the research articulates three domains that they have had to re-negotiate - home space, social space and medical space - emphasizing supportive and challenging aspects of each, as well as meaningful and affective qualities to encounters. The paper concludes with some pointers towards the future study of physical brain abnormalities and injuries and the kinds of knowledge it might create to increase awareness and inform care. Copyright © 2018 Elsevier Ltd. All rights reserved.

The efficacy of intraoperative ultrasonography-assisted microinvasive cisterna magna reconstruction for Chiari malformation typeⅠwith syringomyelia

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LI Peng-chao

2012-08-01

Full Text Available Objective To report the method and effect of intraoperative ultrasonography-assisted microinvasive cisterna magna reconstruction for Chiari malformation type Ⅰ with syringomyelia. Methods Ninty-three patients suffered from Chiari malformation typeⅠwith syringomyelia were treated by microinvasive cisterna magna reconstruction. The skin incision was 1.50-3.00 cm. The bone removal of foramen magnum was 1.50 cm × 2.00 cm with C1 reserved. Dura and arachnoid were incised and sutured linearly. All of the patients underwent cerebellar tonsillar resection and exploration of median aperture of fourth ventricle. Intraoperative ultrasonography was performed both before and after cerebellar tonsillar resection to judge the effect of cisterna magna reconstruction. According to Tator method, the curative effect was divided into 3 groups, improved, stable and worsen. MRI were reviewed at the same time, and the result was divided into syrinx disappeared, reduced, no change and expanded. Results The operation was successful in all patients. Postoperative complications included cerebellum hemorrhage (n = 1, cerebral infarction (n = 1, hydrocephalus (n = 1, subcutaneous dropsy (n = 2 and were recovered after specific treatment. All patients were followed up for 6 months to 12 months after operation. Thirty-six cases were improved, 55 cases were stable, and 2 cases got worse. The MRI showed that the syringomyelia shrinked or disappeared in 90 cases, no change in 3 cases and no expansion. Eighty cases were followed up for 30 months to 36 months after operation, 12 stable cases improved, 1 stable case got worse, while the others remained unchanged. The MRI showed no change was compared with previous follow-up imaging. Conclusion Microinvasive cisterna magna reconstruction is a surgical procedure with mininal injury, quick recovery, stable effect, fewer complications, and high security. Intraoperative ultrasonography provides reliable data and is easy to perform.

Posterior cranial fossa dimensions in the Chiari I malformation: relation to pathogenesis and clinical presentation

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Stovner, L.J.; Bergan, U.; Nilsen, G.; Sjaastad, O.

1993-01-01

Skull dimensions were measured on lateral skull radiographs in 33 adult patients with MRI-verified Chiari I malformations and in 40 controls. The posterior cranial fossa was significantly smaller and shallower in patients than in controls. In the patients, there was a positive correlation between posterior fossa size and the degree of the cerebellar ectopia, which might indicate that a posterior cranial fossa which was originally too small had been expanded by the herniation of hindbrain structures at an early stage. No special clinical presentation was associated with a very small posterior cranial fossa, which may indicate that a small posterior cranial per se has little or no clinical significance, although it may be the primary developmental anomaly. (orig./GD)

Comparision of results between two different techniques of cranio-cervical decompression in patients with Chiari I malformation.

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Kunert, Przemysław; Janowski, Mirosław; Zakrzewska, Agnieszka; Marchel, Andrzej

2009-01-01

A variety of approaches are employed for treatment of Chiari I malformation. They differ in extent of cranio-c ervical decompression. A technique based on arachnoid preservation and duroplasty was introduced in our department in 2001. The aim of the study is to compare between the previous and the present technique. Retrospective analysis of 38 patients with Chiari I malformation treated between 1998 and 2004 was performed. The previous technique including arach- noid incision, coagulation of cerebellar tonsils, and fourth ventricle exploration without duroplasty was used to treat 21 patients (group 1). A further 17 patients were treated with the present technique consisting of arachnoid preservation and duroplasty (group 2). Complication rates as well as early and late results of treatment were evaluated. Karnofsky (KPS), Rankin (RS) and Bidziński (BS) scales were used for evaluation of results. Post-operative complications were detected in 9 patients in group 1 (43%). They included liquorrhoea (5 cases), meningitis (1 case), and symptoms progression (3 cases). There were no surgical complications in group 2 (p = 0.002). Neurological improvement in the early period (until discharge from hospital) occurred in 10 (48%) patients in group 1 and in 13 (76%) in group 2 (p = NS). Further improvement or lack of symptoms progression was found in 58% in group 1 and 82% in group 2 (p = NS). Assessment in KPS, RS and BS showed slightly better results of group 2 but the difference was statistically insignificant. Results of both techniques are comparable. The risk of post-operative complications after extra-arachnoid cranio-cervical decompression with duroplasty is, however, significantly lower.

Subdural Fluid Collection and Hydrocephalus After Foramen Magnum Decompression for Chiari Malformation Type I: Management Algorithm of a Rare Complication.

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Rossini, Zefferino; Milani, Davide; Costa, Francesco; Castellani, Carlotta; Lasio, Giovanni; Fornari, Maurizio

2017-10-01

Chiari malformation type I is a hindbrain abnormality characterized by descent of the cerebellar tonsils beneath the foramen magnum, frequently associated with symptoms or brainstem compression, impaired cerebrospinal fluid circulation, and syringomyelia. Foramen magnum decompression represents the most common way of treatment. Rarely, subdural fluid collection and hydrocephalus represent postoperative adverse events. The treatment of this complication is still debated, and physicians are sometimes uncertain when to perform diversion surgery and when to perform more conservative management. We report an unusual occurrence of subdural fluid collection and hydrocephalus that developed in a 23-year-old patient after foramen magnum decompression for Chiari malformation type I. Following a management protocol, based on a step-by-step approach, from conservative therapy to diversion surgery, the patient was managed with urgent external ventricular drainage, and then with conservative management and wound revision. Because of the rarity of this adverse event, previous case reports differ about the form of treatment. In future cases, finding clinical and radiologic features to identify risk factors that are useful in predicting if the patient will benefit from conservative management or will need to undergo diversion surgery is only possible if a uniform form of treatment is used. Therefore, we believe that a management algorithm based on a step-by-step approach will reduce the use of invasive therapies and help to create a standard of care. Copyright © 2017 Elsevier Inc. All rights reserved.

Sleep apnea and REM sleep behavior disorder in patients with Chiari malformations Apnéia do sono e distúrbio do comportamento da fase do sono com REM em pacientes com malformações de Chiari

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Paulo Sérgio A. Henriques-Filho

2008-06-01

Full Text Available BACKGROUND: Chiari malformations (CM may result in the appearance of REM sleep behavior disorder (RBD and sleep apnea syndrome (SAS that can be considered markers of brain stem dysfunction. PURPOSE: To evaluate the frequency of RBD and SAS in patients with CM type I and II. METHOD: Were evaluated 103 patients with CM by means of full night polysomnography. Were scoring different sleep stages, frequency of abnormal movements (through video monitoring and abnormal respiratory events. RESULTS: Of the 103 patients, 36 showed CM type I and 67 CM type II. Episodes of RBD were observed in 23 patients. Abnormal apnea-hypopnea index (AHI was observed in 65 patients. CONCLUSION: The high rate of RBD suggests that this parassomnia and the increased frequency of central sleep apnea episodes, may be considered as a marker of progressive brain stem dysfunction.INTRODUÇÃO: Malformações de Chiari (MC podem gerar o aparecimento de distúrbio comportamental da fase do sono com REM (DCR e síndrome da apnéia do sono (SAS, sugerindo a ocorrência de disfunção do tronco cerebral. OBJETIVO: Avaliar a freqüência de DCR e SAS em pacientes com MC I ou II. MÉTODO: Utilizou-se a polissonografia de noite inteira para a avaliação de 103 pacientes. Classificaram-se as diferentes fases do sono e analisou-se a freqüência de movimentos anormais (monitorada por vídeo e de eventos respiratórios anormais. RESULTADOS: Dos 103 pacientes analisados, 36 eram portadores de MC I e 67 de MC II. Episódios de DCR foram observados em 23 pacientes. O índice de apnéia/hipopnéia foi considerado anormal em 65 pacientes. CONCLUSÃO: A alta freqüência de DCR e o aumento da freqüência de episódios de apnéia central do sono podem ser considerados manifestação de disfunção progressiva do tronco cerebral.

Anesthesia for a patient of acromesomelic dysplasia with associated hydrocephalus, Arnold Chiari malformation and syringomyelia

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Rudrashish Haldar

2013-01-01

Full Text Available Acromesomelic dysplasias are autosomal recessive osteochondrodysplasias. Acromesomelic dysplasia Maroteaux-type (AMDM, also known as St Helena dysplasia, is of two types: The classical and the mild variety. About 50 cases of AMDM have been reported till date, most of them being the classical variety. There is scarcity of literature on anesthesia for such patients. We are reporting a case of general anesthetic management of AMDM, associated with hydrocephalus, Arnold Chiari malformation type-1 and syringomyelia. The patient was a 10-year-old short-statured boy who presented with symptomatic thoracic kyphoscoliosis, gibbus deformity and back pain. On examination, there was no neurological deficit. Radiology revealed thoracic kyphoscoliosis, mild ventriculomegaly and upper cervical syringomyelia. The patient underwent posterior fossa decompression in the prone position under general anesthesia. We will discuss the anesthetic considerations for such patients and review the pertinent literature.

Restoration of the efferent phase of the sneeze reflex after regression of an Arnold-Chiari malformation with compression of the medulla oblongata.

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Songu, Murat; Can, Nazan; Gelal, Fazil

2013-01-01

The precise location of the sneeze center in the human brain has not been definitively identified. The aim of this report is to contribute to the effort to detect its location. We report the case of a 13-year-old boy who presented to our outpatient clinic for evaluation of an inability to sneeze. In an attempt to trigger the afferent (nasal) phase of the sneeze reflex, we first applied a cotton swab and later a silver nitrate stick to the patient's nasal mucosa. Once that was accomplished, we observed that the patient could not complete the efferent (expiratory) phase of the sneeze reflex, and thus he did not sneeze. Cranial magnetic resonance imaging (MRI) revealed that his cerebellar tonsils extended approximately 10 mm inferiorly through the foramen magnum, which represented a type I Arnold-Chiari malformation. The tonsils were noted to have compressed the posterolateral portion of the medulla oblongata. At follow-up 21 months later, we noted that the patient was able to sneeze spontaneously as well as with nasal stimulation. Repeat MRI revealed that the Arnold-Chiari malformation had undergone a spontaneous partial regression, which resulted in relief of the compression of the medulla oblongata. We believe that the patient's earlier inability to sneeze might have been attributable to the compression of the medulla oblongata by the cerebellar tonsils and that the site of the compression might represent the location of his sneeze center.

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

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

2017-08-01

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

Quantitative trait loci (QTL study identifies novel genomic regions associated to Chiari-like malformation in Griffon Bruxellois dogs.

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Philippe Lemay

Full Text Available Chiari-like malformation (CM is a developmental abnormality of the craniocervical junction that is common in the Griffon Bruxellois (GB breed with an estimated prevalence of 65%. This disease is characterized by overcrowding of the neural parenchyma at the craniocervical junction and disturbance of cerebrospinal fluid (CSF flow. The most common clinical sign is pain either as a direct consequence of CM or neuropathic pain as a consequence of secondary syringomyelia. The etiology of CM remains unknown but genetic factors play an important role. To investigate the genetic complexity of the disease, a quantitative trait locus (QTL approach was adopted. A total of 14 quantitative skull and atlas measurements were taken and were tested for association to CM. Six traits were found to be associated to CM and were subjected to a whole-genome association study using the Illumina canine high density bead chip in 74 GB dogs (50 affected and 24 controls. Linear and mixed regression analyses identified associated single nucleotide polymorphisms (SNPs on 5 Canis Familiaris Autosomes (CFAs: CFA2, CFA9, CFA12, CFA14 and CFA24. A reconstructed haplotype of 0.53 Mb on CFA2 strongly associated to the height of the cranial fossa (diameter F and an haplotype of 2.5 Mb on CFA14 associated to both the height of the rostral part of the caudal cranial fossa (AE and the height of the brain (FG were significantly associated to CM after 10 000 permutations strengthening their candidacy for this disease (P = 0.0421, P = 0.0094 respectively. The CFA2 QTL harbours the Sall-1 gene which is an excellent candidate since its orthologue in humans is mutated in Townes-Brocks syndrome which has previously been associated to Chiari malformation I. Our study demonstrates the implication of multiple traits in the etiology of CM and has successfully identified two new QTL associated to CM and a potential candidate gene.

Posterior fossa reconstruction using titanium plate for the treatment of cerebellar ptosis after decompression for Chiari malformation.

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Udani, Vikram; Holly, Langston T; Chow, Daniel; Batzdorf, Ulrich

2014-01-01

We describe our use of a perforated titanium plate to perform a partial posterior fossa cranioplasty in the treatment of cerebellar ptosis and dural ectasia after posterior fossa decompression (PFD). Twelve patients who had undergone PFD underwent posterior fossa reconstruction using a titanium plate. Symptoms were related to either descent of the cerebellum into the decompression or to dural ectasia into the craniectomy defect. Twelve patients who had undergone large suboccipital craniectomies and who presented with persistent headaches and some with neurological symptoms related to syringomyelia, underwent reoperation with placement of a small titanium plate. Ten of 12 patients showed symptomatic improvement after reoperation. Placement of a titanium plate appears to be an effective method of treatment of cerebellar ptosis and dural ectasia after PFD for Chiari malformation. Copyright © 2014 Elsevier Inc. All rights reserved.

The odontoid process invagination in normal subjects, Chiari malformation and Basilar invagination patients: Pathophysiologic correlations with angular craniometry.

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Ferreira, Jânio A; Botelho, Ricardo V

2015-01-01

Craniometric studies have shown that both Chiari malformation (CM) and basilar invagination (BI) belong to a spectrum of malformations. A more precise method to differentiate between these types of CVJM is desirable. The Chamberlain's line violation (CLV) is the most common method to identify BI. The authors sought to clarify the real importance of CLV in the spectrum of craniovertebral junction malformations (CVJM) and to identify possible pathophysiological relationships. We evaluated the CLV in a sample of CVJM, BI, CM patients and a control group of normal subjects and correlated their data with craniocervical angular craniometry. A total of 97 subjects were studied: 32 normal subjects, 41 CM patients, 9 basilar invagination type 1 (BI1) patients, and 15 basilar invagination type 2 (BI2) patients. The mean CLV violation in the groups were: The control group, 0.16 ± 0.45 cm; the CM group, 0.32 ± 0.48 cm; the BI1 group, 1.35 ± 0.5 cm; and the BI2 group, 1.98 ± 0.18 cm. There was strong correlation between CLV and Boogard's angle (R = 0.82, P = 0.000) and the clivus canal angle (R = 0.7, P = 0.000). CM's CLV is discrete and similar to the normal subjects. BI1 and BI2 presented with at least of 0.95 cm CLV and these violations were strongly correlated with a primary cranial angulation (clivus horizontalization) and an acute clivus canal angle (a secondary craniocervical angle).

Relationship between pharyngitis and peri-odontoid pannus: A new etiology for some Chiari I malformations?

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Tubbs, R Shane; Griessenauer, Christoph J; Hendrix, Philipp; Oakes, Peter; Loukas, Marios; Chern, Joshua J; Rozzelle, Curtis J; Oakes, W Jerry

2015-07-01

The pathophysiology underlying Chiari I malformations (CIMs) provides room for debate with several theories attempting to address this issue. We retrospectively reviewed many of our past patients with pediatric CIMs (specifically, those with peri-odontoid pannus), and present a hypothesis for the development of the malformation in some of said patients. Our experience with the pediatric CIM has shown that almost 1 in 20 patients who present with symptoms is found to have a peri-odontoid pannus. These masses ranged in size from 4 to 11 mm in diameter. Forty percent had a history of clinically significant pharyngitis or pharyngeal abscess. Pannus formation around the dens (odontoid) resulted in ventral compression of the craniocervical junction in each of these patients. Highlighting the hypermobility that causes such lesions, following fusion, the pannus and symptoms in several patients were diminished. Impairment of normal cerebrospinal fluid circulation out of the fourth ventricle and across the craniocervical junction appears to be a plausible endpoint in this discussion and a suitable explanation for some patients with CIM. Still, the mechanisms by which cerebrospinal fluid circulation is compromised may be variable and are not well understood. This is the first study dedicated to the evaluation of pannus formation in the CIM population. We hypothesize that pharyngeal inflammatory conditions contribute to the formation and progression of hindbrain herniation in a small subset of patients with CIMs. © 2015 Wiley Periodicals, Inc.

Stereological and Morphometric Analysis of MRI Chiari Malformation Type-1

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Alkoç, Ozan Alper; Songur, Ahmet; Eser, Olcay; Toktas, Muhsin; Esi, Ertap; Haktanir, Alpay

2015-01-01

Objective In this study, we aimed to investigate the underlying ethiological factors in chiari malformation (CM) type-I (CMI) via performing volumetric and morphometric length-angle measurements. Methods A total of 66 individuals [33 patients (20-65 years) with CMI and 33 control subjects] were included in this study. In sagittal MR images, tonsillar herniation length and concurrent anomalies were evaluated. Supratentorial, infratentorial, and total intracranial volumes were measured using Cavalieri method. Various cranial distances and angles were used to evaluate the platybasia and posterior cranial fossa (PCF) development. Results Tonsillar herniation length was measured 9.09±3.39 mm below foramen magnum in CM group. Tonsillar herniation/concurrent syringomyelia, concavity/defect of clivus, herniation of bulbus and fourth ventricle, basilar invagination and craniovertebral junction abnormality rates were 30.3, 27, 18, 2, 3, and 3 percent, respectively. Absence of cisterna magna was encountered in 87.9% of the patients. Total, IT and ST volumes and distance between Chamberlain line and tip of dens axis, Klaus index, clivus length, distance between internal occipital protuberance and opisthion were significantly decreased in patient group. Also in patient group, it was found that Welcher basal angle/Boogard angle increased and tentorial slope angle decreased. Conclusion Mean cranial volume and length-angle measurement values significantly decreased and there was a congenital abnormality association in nearly 81.5 percent of the CM cases. As a result, it was concluded that CM ethiology can be attributed to multifactorial causes. Moreover, congenital defects can also give rise to this condition. PMID:26713146

Complicated Pseudomeningocele Repair After Chiari Decompression: Case Report and Review of the Literature.

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De Tommasi, Claudio; Bond, Aaron E

2016-04-01

Pseudomeningocele is a recognised complication after posterior fossa decompression for Chiari malformation. Its management can be challenging and treatment options vary in literature. A difficult-to-treat case of a pseudomeningocele after posterior fossa decompression for a Chiari I malformation is presented. A 34-year-old woman underwent an initial decompression followed by multiple revision surgeries after the development of a symptomatic pseudomeningocele and a low-grade infection. Complications associated with standard treatment modalities, including lumbar drainage and dural repair, are discussed. A review of the existing literature is presented. The reported case ultimately required complete removal of all dural repair materials to eliminate the patient's low-grade infection, a muscular flap, and placement of a ventricular-peritoneal shunt for definitive treatment after a trial of a lumbar drain led to herniation and development of a syrinx. Copyright © 2016 Elsevier Inc. All rights reserved.

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

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Roya Memarpour

2015-01-01

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

Clinical and neuroradiological features of syringomyelia associated with Chiari malformation

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Isu, Toyohiko; Iwasaki, Yoshinobu; Akino, Minoru; Abe, Hiroshi; Tashiro, Kunio; Sudo, Kazumasa; Miyasaka, Kazuo [Hokkaido Univ., Sapporo (Japan). School of Medicine; Saito, Hisatoshi

1990-01-01

The clinical presentation and radiological features were analyzed in 30 cases of syringomyelia associated with Chiari malformation. None of the patients had spinal dysraphism. The age on admission ranged from 6 to 59 years with a mean of 27 years. Syringomyelia was diagnosed by CT myelography and or MRI from 1982 to 1988. The initial symptoms were skeletal abnormality (43%) such as scolisis (12 cases) or pescavus (one case), unilateral pain or numbness (40%) and unilateral motor weakness (17%). Frequently seen signs on admission were sensory deficit (100%), scoliosis (57%), muscle weakness (57%), muscle atrophy (37%) and lower cranial nerve palsy (40%). The neurological findings were asymmetrical in all patients. The characteristic neurological findings in the cases presenting under 20 years of age were unilateral sensory and motor deficits (61%) with decreased or absent deep tendon reflex on the same side. The localization of the syrinx in axial section varied according to the level even in the same case. In 15 cases with unilateral sensory disturbance or unilateral sensory and motor deficit, the syrinx was located in the region corresponding to the posterolateral portion on the same side as that of sensory disturbance in the cervical or thoracic level. On the other hand, in 15 cases with bilateral sensory and motor deficit, the syrinx was located in the central portion and extended into the posterolateral portion of the more affected side. The authors think that the syrinx which originates from the unilateral posterolateral portion, extends to involve the gray matter around the central canal and the posterolateral portion of the other side with progression of the syrinx to cause bilateral disturbance. As a result, unilateral neurological symptoms also become bilateral with progression of the syrinx. (author).

ANAESTHETIC MANAGEMENT IN A PATIENT WITH ARNOLD-CHI ARI MALFORMATION TYPE I AND SYRINGOMYELIA

OpenAIRE

Kartika; Pratap; Vijayalaxmi; Kalyan Chakravarthy; Nagaraju

2013-01-01

ABSTRACT: Syringomyelia is an unusual neurological condition characterised by the the presence of cystic cavity in the spinal cord resultin g in neurological manifestations. Here, we report a safe anesthetic management of patient with Arnold-Ch iari malformation type I and syringomyelia posted for foramen magnum decompression . INTRODUCTION: Arnold-Chiari malformation (ACM) is a developmental malformation characterised by downward displacement of cere...

Hemifacial spasm in a patient with neurofibromatosis and Arnold-Chiari malformation: a unique case association Espasmo hemifacial em paciente com neurofibromatose e malformação de Arnold-Chiari: uma associação rara

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Andre Carvalho Felício

2007-09-01

Full Text Available BACKGROUND: The association of hemifacial spasm (HFS, Chiari type I malformation (CIM and neurofibromatosis type 1 (NF1 has not been described yet. CASE REPORT: We report the case of a 31-year-old woman with NF1 who developed a right-sided HFS. On magnetic resonance imaging (MRI a CIM was seen without syringomyelia. The patient has been successfully treated with botulinum toxin type A injections for 5 years without major side effects. CONCLUSION:Clinical features of HFS, CMI and NF1 are highlighted together with their possible relationship. Also, therapeutic strategies are also discussed.INTRODUÇÃO: A associação entre espasmo hemifacial (EHF, malformação de Chiari tipo I (MCI e neurofibromatose tipo I (NFI ainda não foi descrita. RELATO DO CASO: Relatamos o caso de mulher com 31 anos com NFI que desenvolveu EHF à direita. Na ressonância magnética (RM foi observada MCI sem seringomielia associada. A paciente foi tratada com sucesso com toxina botulínica tipo A por 5 anos sem efeitos colaterais. CONCLUSÃO: Ressaltamos as características clínicas do EHF, MCI e NFI assim como uma possível relação entre elas. Além disto, discutimos também estratégias terapêuticas.

Acute Presentation of Chiari I Malformation with Hemiparesis in a Pediatric Patient.

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Miranda, Stephen P; Kimmell, Kristopher T; Silberstein, Howard J

2016-01-01

Chiari I malformation (CM-I) is defined by cerebellar tonsillar herniation through the foramen magnum. Patients typically present with chronic complaints, including headache, dizziness, and numbness, although there are few reports in the literature of pediatric patients presenting acutely with neurological deficit caused by CM-I. We report a child who presented acutely with hemiparesis and magnetic resonance imaging findings consistent with CM-I and spinal cord edema. A 3-year old boy with normal development presented with difficulty walking and increased drooling. His mother stated he was running into objects and had balance issues for several days. Neurological examination showed ataxia with falling to the right after a few steps and weakness of the right arm and leg. His medical history was remarkable only for mild asthma, although he had recently been treated for an upper respiratory viral infection. Computed tomography of the head demonstrated no brainstem mass. Magnetic resonance imaging of the head and cervical spine showed tonsillar ectopia approximately 2 cm below the craniocervical junction with increased T2 signal in the spinal cord from C1 to C3 consistent with syringomyelia and cord edema. The patient underwent suboccipital craniectomy with removal of the posterior arch of C1 and dural patch graft. His postoperative course was unremarkable, with complete resolution of his symptoms at his 1-month follow-up visit. This case highlights an unusual presentation of CM-I with neurological deficit related to spinal cord edema, possibly precipitated by the "water-hammer" effect of this patient's coughing fits. Providers should be aware of the acute presentations of CM-I. Copyright © 2016 Elsevier Inc. All rights reserved.

Posterior fossa decompression with duraplasty in Chiari surgery: A technical note

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Marcelo Ferreira Sabba

Full Text Available Summary Chiari malformation (CM is the most common and prevalent symptomatic congenital craniocervical malformation. Radiological diagnosis is established when the cerebellar tonsils are located 5 mm or more below the level of the foramen magnum on magnetic resonance imaging (MRI. Surgical treatment is indicated whenever there is symptomatic tonsillar herniation or syringomyelia/hydrocephalus. The main surgical treatment for CM without craniocervical instability (such as atlantoaxial luxation is posterior fossa decompression, with or without duraplasty. The authors describe in details and in a stepwise fashion the surgical approach of patients with CM as performed at the State University of Campinas, emphasizing technical nuances for minimizing the risks of the procedure and potentially improving patient outcome.

Conquer Chiari

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... on the Web Chiari Facebook Page Pediatric Chiari Facebook Page Upcoming Events Community Fundraising Efforts ABOUT US C&S Patient Education Foundation Mission History & Accomplishments Team Financial Disclosure Forms (990's) Get Involved ...

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

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

2017-01-01

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

Surgical treatment of type I Chiari malformation: the role of Magendie’s foramen opening e tonsils manipulation

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Claudio Henrique Fernandes Vidal

2015-02-01

Full Text Available The treatment for type 1 Chiari malformation (CM 1 is one of the most controversial topics in the neurosurgical field. The present study evaluated two of the most applied surgical techniques to treat CM 1. Method 32 patients were evaluated and divided in two groups: group 1 had 16 patients that were submitted to decompression of occipital bone and dura mater of the craniovertebral junction (CVJ; group 2 also had 16 patients and in addition to the previous procedure, they were submitted to Magendie’s foramen opening e tonsils manipulation. The comparison between the groups included neurological exam and cerebrospinal fluid flow imaging during pre and postoperative periods. Results Both techniques were equivalents in terms of neurological improvement of the patients (p > 0.05, but the group 2 had more surgical complications, with relative risk of 2.45 (CI 1.55-3.86 for adverse events. Whatever the cerebrospinal fluid flow at CVJ, the patients of the group 1 achieved greater amount of flow than the group 2 (p < 0.05 during the postoperative period. Conclusion The cranial and dural decompression of the CVJ without arachnoidal violation was the best surgical intervention for treatment of CM 1, between these two compared techniques.

Asymptomatic Chiari Type I malformation: should patients be advised against participation in contact sports?

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Spencer, Robert; Leach, Paul

2017-08-01

Chiari type I malformation (CM-I) is characterised by caudal displacement of the cerebellar tonsils through the foramen magnum, crowding the craniocervical junction. It is being increasingly diagnosed in asymptomatic patients due to the widespread availability of MRI, and there are case reports of these patients suffering sudden death or neurological injury following head or neck trauma, raising the issue of whether they should be prohibited from contact sport participation, given the likelihood of frequent trauma. General neurosurgical opinion is that patients who are symptomatic and those with an associated spinal cord syrinx should be offered foramen magnum decompression, however asymptomatic patients without syringomyelia are not offered this in the majority of cases. The authors performed a full review of the published literature, including all case reports, case series, studies and literature reviews regarding CM-I and either contact sports or trauma, excluding patients that had undergone surgical intervention and those becoming symptomatic in circumstances other than head or neck trauma. 21 case reports of CM-I patients deteriorating following trauma were identified, including four cases of sudden death following head or neck injury. However, studies of large samples of CM-I patients are yet to capture an incident of sudden death or acute neurological deterioration, suggesting that the risk is very low. CM-I patients may have an increased risk of concussion and post-concussion syndrome compared to the background population however. Overall, the authors feel that there should be no restriction of sports participation for CM-I patients, but a discussion to make them and their families aware of the possible increased risks is important.

[Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway].

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Ejarque, Ismael; Millán-Salvador, José M; Oltra, Silvestre; Pesudo-Martínez, José V; Beneyto, Magdalena; Pérez-Aytés, Antonio

2015-05-01

Noonan syndrome (NS) and other syndromes with a similar phenotype, such as LEOPARD, cardiofaciocutaneous, Costello and Legius, are associated to mutations in genes included in the RAS/MAPK pathway (RASopathies), which is an important signalling pathway related to cell proliferation. Tonsillar descent into the upper cervical spinal canal, known as Arnold-Chiari malformation (ACM), has been reported in patients with NS and this has led some researchers to suggest that ACM could be part of the phenotypic spectrum of NS. We report two cases of NS and ACM. Case 1: 29-year-old female with Noonan phenotype who underwent surgery at the age of nine years due to pulmonary valve stenosis. At the age of 27, she presented symptomatic ACM that required surgical decompression. She presented the c.922A>G (N308D) mutation in the gene PTPN that belongs to the RAS/MAPK pathway. Case 2: a 10-year-old female with Noonan phenotype and asymptomatic ACM detected in magnetic resonance imaging of the brain. She was a carrier of the c.923A>G (N308S) mutation in gene PTPN11. Six patients with this association have been found in the literature, four with the Noonan phenotype and two with LEOPARD. Our two patients provide supplementary evidence that backs up the hypothesis by which ACM would be part of the phenotypic spectrum of NS. The small number of reported cases of patients with this association does not allow us to draw up recommendations about when and how often neuroimaging studies should be performed; a careful neurological examination, however, should be included in the anticipatory health guidelines in syndromes involving the RAS/MAPK pathway.

Clinical evidence for cervical myelopathy due to Chiari malformation and spinal stenosis in a non-randomized group of patients with the diagnosis of fibromyalgia.

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Heffez, Dan S; Ross, Ruth E; Shade-Zeldow, Yvonne; Kostas, Konstantinos; Shah, Sagar; Gottschalk, Robert; Elias, Dean A; Shepard, Alan; Leurgans, Sue E; Moore, Charity G

2004-10-01

While patients with fibromyalgia report symptoms consistent with cervical myelopathy, a detailed neurological evaluation is not routine. We sought to determine if patients with fibromyalgia manifest objective neurological signs of cervical myelopathy. Two hundred and seventy patients, 18 years and older, who carried the diagnosis of fibromyalgia but who had no previously recognized neurological disease underwent detailed clinical neurological and neuroradiological evaluation for the prevalence of objective evidence of cervical myelopathy and radiological evidence of cerebellar tonsillar herniation (Chiari 1 malformation) or cervical spinal canal stenosis. Patients were primarily women (87%), of mean age 44 years, who had been symptomatic for 8 years (standard deviation, 6.3 years). The predominant complaints were neck/back pain (95%), fatigue (95%), exertional fatigue (96%), cognitive impairment (92%), instability of gait (85%), grip weakness (83%), paresthesiae (80%), dizziness (71%) and numbness (69%). Eighty-eight percent of patients reported worsening symptoms with neck extension. The neurological examination was consistent with cervical myelopathy: upper thoracic spinothalamic sensory level (83%), hyperreflexia (64%), inversion of the radial periosteal reflex (57%), positive Romberg sign (28%), ankle clonus (25%), positive Hoffman sign (26%), impaired tandem walk (23%), dysmetria (15%) and dysdiadochokinesia (13%). MRI and contrast-enhanced CT imaging of the cervical spine revealed stenosis. The mean antero-posterior (AP) spinal canal diameter at C2/3, C3/4, C4/5, C5/6, C6/7 and C7/T1 was 13.5 mm, 11.8 mm, 11.5 mm, 10.4 mm, 11.3 mm and 14.5 mm respectively, (CT images). In 46% of patients, the AP spinal diameter at C5/6 measured 10 mm, or less, with the neck positioned in mild extension, i.e., clinically significant spinal canal stenosis. MRI of the brain revealed tonsillar ectopia >5 mm in 20% of patients (mean=7.1+/-1.8 mm), i.e., Chiari 1 malformation

International survey on the management of Chiari 1 malformation and syringomyelia: evolving worldwide opinions.

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Singhal, Ash; Cheong, Alexander; Steinbok, Paul

2018-03-12

In 2003, pediatric neurosurgeons were surveyed under the auspices of the education committee of the International Society for Pediatric Neurosurgery (ISPN) to determine prevailing opinions regarding the management of Chiari I malformation (C1M) with and without associated syringomyelia. In the ensuing years, there has been further information from multiple C1M studies, with regards to indications, success rates of different surgical interventions, and complications. The purpose of this study was to re-evaluate current opinions and practices in pediatric C1M. Pediatric neurosurgeons worldwide were surveyed, using an e-mail list provided by the ISPN communication committee chairperson. Respondents were given scenarios similar to the 2003 C1M survey in order to determine opinions regarding whether to surgically intervene, and if so, with which operations. Of 300 surveys electronically distributed, 122 responses were received (40.6% response rate)-an improvement over the 30.8% response rate in 2003. Pediatric neurosurgeons from 34 different countries responded. There was broad consensus that non-operative management is appropriate in asymptomatic C1M (> 90%) as well as asymptomatic C1M with a small syrinx (> 65%). With a large syrinx, a majority (almost 80%) recommended surgical intervention. Scoliotic patients with CIM were generally offered surgery only when there was a large syrinx. There has been a shift in the surgical management over the past decade, with a bone-only decompression now being offered more commonly. There remains, however, great variability in the operation offered. This survey, with a relatively strong response rate, and with broad geographic representation, summarizes current worldwide expert opinion regarding management of pediatric C1M. Asymptomatic C1M and C1M with a small syrinx are generally managed non-operatively. When an operation is indicated, there has been a shift towards less invasive surgical approaches.

Malformação de Chiari do tipo II sintomática

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SALOMÃO J. FRANCISCO

1998-01-01

Full Text Available Os autores analisam uma série de 17 crianças portadoras de mielodisplasias que desenvolveram sinais e sintomas da malformação de Chiari do tipo II. De acordo com a idade, dois grupos ficaram bem definidos: Grupo I, crianças no primeiro ano de vida, em que predominaram sinais e sintomas de comprometimento do tronco encefálico e nervos cranianos bulbares (n=13; Grupo II, composto por crianças com idade superior a um ano, em que as principais manifestações foram dor cervical e sinais cerebelares (n=4. O resultado do tratamento cirúrgico nos dois grupos foi distinto: enquanto a mortalidade no Grupo I atingiu 46,1%, nenhum paciente do Grupo II veio a falecer. O tratamento inicial consistiu na instalação ou revisão de derivação ventricular, sendo a descompressão crânio-vertebral reservada àqueles que não se beneficiaram com esses procedimentos. Os autores enfatizam a necessidade do imediato reconhecimento e tratamento do quadro, de modo a se obter resultados satisfatórios.

Sleep-Related Breathing Disorders in Chiari Malformation Type 1: A Prospective Study of 90 Patients.

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Ferré, Álex; Poca, Maria A; de la Calzada, Maria D; Moncho, Dulce; Romero, Odile; Sampol, Gabriel; Sahuquillo, Juan

2017-06-01

The aim of the present study is to describe the prevalence of sleep disorders in a large group of patients with Chiari malformation type 1 (CM-1) and determine the presence of risk factors associated with these abnormalities. Prospective study with consecutive patient selection. We included 90 adult patients with CM-1, defined by the presence of a cerebellar tonsillar descent (TD) ≥3 mm. Clinical, neuroradiological studies, and nocturnal polysomnography (PSG) was carried out. In addition, patients were also subclassified into 2 CM subtypes: CM-1, with the obex above the foramen magnum (FM) and CM-1.5, in which along with a TD ≥3 mm, the obex was located below the FM. We observed a high prevalence (50%) of sleep-related breathing disorders (SRBDs) with predominant hypopnea. Only six patients showed a central apnea index of ≥5. Hypoventilation was observed in only three patients. SRBD severity was associated with male sex, older age, excess weight, and the presence of hydrocephalus. No differences in clinical or PSG parameters were found when comparing CM subtypes (CM-1 and CM-1.5). Sleep architecture study showed decreased sleep efficiency with an increase in arousal and waking after sleep onset. The presence of SRBDs was found to be associated with poorer sleep architecture parameters. This study confirms a high prevalence of SRBDs in patients with CM-1 and CM-1.5, with a predominant obstructive component. Nocturnal PSG recordings should be systematically conducted in these patients, especially those who are male, older, or overweight or those who present hydrocephalus. © Sleep Research Society 2017. Published by Oxford University Press on behalf of the Sleep Research Society. All rights reserved. For permissions, please e-mail journals.permissions@oup.com.

Unusual Association Between Spontaneous Lateral Sphenoid Encephalocele and Chiari Malformation Type I: Endoscopic Repair Through a Transpterygoid Approach.

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Starnoni, Daniele; Daniel, Roy Thomas; George, Mercy; Messerer, Mahmoud

2017-01-01

Spontaneous meningoencephaloceles of the lateral sphenoid sinus are rare entities, and their peculiar location represents a surgical challenge due to the importance of a wide exposure and skull base reconstruction. They are thought to arise from the congenital base defect of the lateral sphenoid or in some cases have been postulated to represent a rare manifestation of altered cerebrospinal fluid (CSF) dynamics. We report the first case in the literature of a Chiari malformation type I (CMI) and a lateral sphenoid encephalocele, revising the theoretic etiology and surgical technique of endoscopic repair. A 50-year-old woman with a surgical history of symptomatic CMI presented with episodes of spontaneous CSF rhinorrhea. Radiologic investigations revealed a left mesial temporal encephalocele herniating into the lateral recess of the sphenoid sinus and radiologic features of altered CSF dynamics, which may have played an etiologic role. An endoscopic transpterygoid excision of the encephalocele and multilayer skull base repair were performed. The association of spontaneous lateral sphenoid encephaloceles with CMI is distinctly unusual. Predisposing factors and disruption of CSF dynamics may play a major role in the development of these rare complications in patients with CMI. Because of their distinct location, transethmoid or transpterygoid endoscopic approaches represent an excellent surgical technique to treat these lesions thanks to their wide and direct visualization of the entire skull base defect following the encephalocele excision, allowing an adequate multilayer repair and lateral sphenoid recess occlusion. Copyright © 2016 Elsevier Inc. All rights reserved.

Use of Morphometric Mapping to Characterise Symptomatic Chiari-Like Malformation, Secondary Syringomyelia and Associated Brachycephaly in the Cavalier King Charles Spaniel.

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Susan P Knowler

Full Text Available To characterise the symptomatic phenotype of Chiari-like malformation (CM, secondary syringomyelia (SM and brachycephaly in the Cavalier King Charles Spaniel using morphometric measurements on mid-sagittal Magnetic Resonance images (MRI of the brain and craniocervical junction.This retrospective study, based on a previous quantitative analysis in the Griffon Bruxellois (GB, used 24 measurements taken on 130 T1-weighted MRI of hindbrain and cervical region. Associated brachycephaly was estimated using 26 measurements, including rostral forebrain flattening and olfactory lobe rotation, on 72 T2-weighted MRI of the whole brain. Both study cohorts were divided into three groups; Control, CM pain and SM and their morphometries compared with each other.Fourteen significant traits were identified in the hindbrain study and nine traits in the whole brain study, six of which were similar to the GB and suggest a common aetiology. The Control cohort had the most elliptical brain (p = 0.010, least olfactory bulb rotation (p = 0.003 and a protective angle (p = 0.004 compared to the other groups. The CM pain cohort had the greatest rostral forebrain flattening (p = 0.007, shortest basioccipital (p = 0.019, but a greater distance between the atlas and basioccipital (p = 0.002 which was protective for SM. The SM cohort had two conformation anomalies depending on the severity of craniocervical junction incongruities; i the proximity of the dens (p <0.001 ii increased airorhynchy with a smaller, more ventrally rotated olfactory bulb (p <0.001. Both generated 'concertina' flexures of the brain and craniocervical junction.Morphometric mapping provides a diagnostic tool for quantifying symptomatic CM, secondary SM and their relationship with brachycephaly. It is hypothesized that CM pain is associated with increased brachycephaly and SM can result from different combinations of abnormalities of the forebrain, caudal fossa and craniocervical junction which compromise

Budd-Chiari syndrome complicating hydatid liver disease

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Robotti, G.C.; Meister, F.; Schroeder, R.; Bern Univ.; Bern Univ.

1985-01-01

In two female patients a diagnosis of Budd-Chiari syndrome secondary to hepatic echinococcosis was established by CT. One patient developed acute Budd-Chiari syndrome secondary to E. granulosus lesions of the liver. The second patient presented with a picture of chronic Budd-Chiari syndrome secondary to alveolar echinococcosis. CT findings of Budd-Chiari syndrome included ascites, low density areas in the liver parenchyma, hypertrophy of the caudate lobe, non visualisation of the hepatic veins, occlusion of the retrohepatic inferior vena cava and enlarged retroperitoneal veins. (orig.) [de

Clinical and radiological outcome of craniocervical osteo-dural decompression for Chiari I-associated syringomyelia.

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Spena, Giannantonio; Bernucci, Claudio; Garbossa, Diego; Valfrè, Walter; Versari, Pietro

2010-07-01

The aim of this study was to analyze the long-term clinical and radiological outcomes of craniocervical decompression for patients affected by Chiari I-related syringomyelia. We performed a retrospective analysis of a group of patients affected by Chiari I-associated syringomyelia treated by craniocervical decompression (CCD). Surgical and technical aspects and preoperative factors predicting outcome were discussed. A total of 36 patients were reviewed. There were 17 men and 19 women (female/male ratio 1.11), and the mean age was 40.4 (range 18-68). The most important preoperative symptoms were related to myelopathy (pain, weakness, atrophy, spasticity, sensory loss, and dysesthesias). Most syrinxes were in the cervico-thoracic region (61.1%), and the majority of patients had tonsillar descent between the foramen magnum and C1. All patients underwent a craniectomy less than 3 cm in diameter followed by a duroplasty with dura substitute. No arachnoid manipulation was necessary. Three patients (8.1%) experienced cerebrospinal fluid leaks that resolved without complications. At a mean follow up of 40 months (range 16-72) 80.5% of patients exhibited improvement over their preoperative neurological examination while 11.1% stabilized. The syrinx shrank in 80.5% of patients. Chi-square test showed that preoperative syrinx extension and degree of tonsillar descent did not correlate with clinical and neuroradiological postoperative evolution. Treating syringomyelia associated in Chiari I malformation with CCD leads to a large percentage of patients with satisfying results and no irreversible complications.

Imaging of Budd-Chiari syndrome

International Nuclear Information System (INIS)

Buckley, O.; O' Brien, J.; Snow, A.; Stunell, H.; Torreggiani, W.C.; Lyburn, I.; Munk, P.L.

2007-01-01

Budd-Chiari syndrome occurs when venous outflow from the liver is obstructed. The obstruction may occur at any point from the hepatic venules to the left atrium. The syndrome most often occurs in patients with underlying thrombotic disorders such as polycythemia rubra vera, paroxysmal nocturnal hemoglobinuria and pregnancy. It may also occur secondary to a variety of tumours, chronic inflammatory diseases and infections. Imaging plays an important role both in establishing the diagnosis of Budd-Chiari syndrome as well as evaluating for underlying causes and complications such as portal hypertension. In this review article, we discuss the role of modern imaging in the evaluation of Budd-Chiari syndrome. (orig.)

Imaging of Budd-Chiari syndrome

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Buckley, O.; O' Brien, J.; Snow, A.; Stunell, H.; Torreggiani, W.C. [Adelaide and Meath Hospital, Incorporating the National Children' s Hospital (AMNCH), Department of Radiology, Dublin 24 (Ireland); Lyburn, I. [Cheltenham Hospital, Department of Radiology, Cheltenham (United Kingdom); Munk, P.L. [Vancouver General Hospital, Department of Radiology, Vancouver (Canada)

2007-08-15

Budd-Chiari syndrome occurs when venous outflow from the liver is obstructed. The obstruction may occur at any point from the hepatic venules to the left atrium. The syndrome most often occurs in patients with underlying thrombotic disorders such as polycythemia rubra vera, paroxysmal nocturnal hemoglobinuria and pregnancy. It may also occur secondary to a variety of tumours, chronic inflammatory diseases and infections. Imaging plays an important role both in establishing the diagnosis of Budd-Chiari syndrome as well as evaluating for underlying causes and complications such as portal hypertension. In this review article, we discuss the role of modern imaging in the evaluation of Budd-Chiari syndrome. (orig.)

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

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

2016-11-01

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

A new classification for cochleovestibular malformations.

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Sennaroglu, Levent; Saatci, Isil

2002-12-01

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

Budd-Chiari syndrome secondary to toxic pyrrolizidine alkaloid exposure.

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Wu, Janet S W; Poon, W T; Ma, C K; Chen, M L; Pang, K S; Mak, Tony W L; Chan, H B

2013-12-01

In this report, we describe a case of pyrrolizidine alkaloid-related Budd-Chiari syndrome in Hong Kong. A 10-month-old boy presented with ascites, right pleural effusion, and hepatomegaly after consumption of herbal drinks for 3 months. His clinical (including imaging) features were compatible with Budd-Chiari syndrome. Budd-Chiari syndrome is a rare disease entity in paediatric patients. In our case, extensive workup performed to look for the underlying cause of Budd-Chiari syndrome was unrevealing, except for toxic pyrrolizidine alkaloid exposure in his herbal drinks.

A genome-wide association study identifies candidate loci associated to syringomyelia secondary to Chiari-like malformation in Cavalier King Charles Spaniels.

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Ancot, Frédéric; Lemay, Philippe; Knowler, Susan P; Kennedy, Karen; Griffiths, Sandra; Cherubini, Giunio Bruto; Sykes, Jane; Mandigers, Paul J J; Rouleau, Guy A; Rusbridge, Clare; Kibar, Zoha

2018-03-22

Syringomyelia (SM) is a common condition affecting brachycephalic toy breed dogs and is characterized by the development of fluid-filled cavities within the spinal cord. It is often concurrent with a complex developmental malformation of the skull and craniocervical vertebrae called Chiari-like malformation (CM) characterized by a conformational change and overcrowding of the brain and cervical spinal cord particularly at the craniocervical junction. CM and SM have a polygenic mode of inheritance with variable penetrance. We identified six cranial T1-weighted sagittal MRI measurements that were associated to maximum transverse diameter of the syrinx cavity. Increased syrinx transverse diameter has been correlated previously with increased likelihood of behavioral signs of pain. We next conducted a whole genome association study of these traits in 65 Cavalier King Charles Spaniel (CKCS) dogs (33 controls, 32 with extreme phenotypes). Two loci on CFA22 and CFA26 were found to be significantly associated to two traits associated with a reduced volume and altered orientation of the caudal cranial fossa. Their reconstructed haplotypes defined two associated regions that harbor only two genes: PCDH17 on CFA22 and ZWINT on CFA26. PCDH17 codes for a cell adhesion molecule expressed specifically in the brain and spinal cord. ZWINT plays a role in chromosome segregation and its expression is increased with the onset of neuropathic pain. Targeted genomic sequencing of these regions identified respectively 37 and 339 SNPs with significantly associated P values. Genotyping of tagSNPs selected from these 2 candidate loci in an extended cohort of 461 CKCS (187 unaffected, 274 SM affected) identified 2 SNPs on CFA22 that were significantly associated to SM strengthening the candidacy of this locus in SM development. We identified 2 loci on CFA22 and CFA26 that contained only 2 genes, PCDH17 and ZWINT, significantly associated to two traits associated with syrinx transverse

Disgenesia do corpo caloso e más-formações associadas: achados de tomografia computadorizada e ressonância magnética Dysgenesis of the corpus callosum and associated malformations: computed tomography and magnetic resonance imaging findings

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Cristiano Montandon

2003-10-01

Full Text Available O termo disgenesia do corpo caloso refere-se a uma má-formação deste com origem na embriogênese do telencéfalo. O relato analisa os achados de tomografia computadorizada e ressonância magnética em 11 pacientes com disgenesia calosa e em um caso de corpo caloso normal com lipoma associado. Esta pode ser distinguida em três grupos: agenesia total (três casos, agenesia parcial (seis casos e hipoplasia (dois casos. Anomalias associadas foram observadas em nove casos, incluindo má-formação de Chiari tipo II (um caso, esquizencefalia (um caso, cisto inter-hemisférico (dois casos, heterotopia nodular (um caso, cisto de Dandy-Walker (um caso e lipoma do corpo caloso (quatro casos. Este artigo demonstra um espectro destes distúrbios, auxiliando na sua interpretação diagnóstica.Callosal dysgenesis is a malformation of the corpus callosum with origins in the embryogenesis of the telencephalon. We reviewed the computed tomography and magnetic resonance imaging findings of 11 patients with callosal dysgenesis and one patient with normal corpus callosum associated with a lipoma. The patients were divided into three distinct groups: total agenesis (three patients, partial agenesis (six patients and hypoplasia (two patients. Associated abnormalities were observed in nine patients, including Chiari II malformation (one patient, schizencephaly (one patient, interhemispheric cyst (two patients, Dandy-Walker cyst (one patient, nodular heterotopy (one patient and lipoma of the corpus callosum (four patients. This paper presents a review that may contribute to the diagnosis of these disorders.

Chiari malformation Type I surgery in pediatric patients. Part 1: validation of an ICD-9-CM code search algorithm.

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Ladner, Travis R; Greenberg, Jacob K; Guerrero, Nicole; Olsen, Margaret A; Shannon, Chevis N; Yarbrough, Chester K; Piccirillo, Jay F; Anderson, Richard C E; Feldstein, Neil A; Wellons, John C; Smyth, Matthew D; Park, Tae Sung; Limbrick, David D

2016-05-01

OBJECTIVE Administrative billing data may facilitate large-scale assessments of treatment outcomes for pediatric Chiari malformation Type I (CM-I). Validated International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) code algorithms for identifying CM-I surgery are critical prerequisites for such studies but are currently only available for adults. The objective of this study was to validate two ICD-9-CM code algorithms using hospital billing data to identify pediatric patients undergoing CM-I decompression surgery. METHODS The authors retrospectively analyzed the validity of two ICD-9-CM code algorithms for identifying pediatric CM-I decompression surgery performed at 3 academic medical centers between 2001 and 2013. Algorithm 1 included any discharge diagnosis code of 348.4 (CM-I), as well as a procedure code of 01.24 (cranial decompression) or 03.09 (spinal decompression or laminectomy). Algorithm 2 restricted this group to the subset of patients with a primary discharge diagnosis of 348.4. The positive predictive value (PPV) and sensitivity of each algorithm were calculated. RESULTS Among 625 first-time admissions identified by Algorithm 1, the overall PPV for CM-I decompression was 92%. Among the 581 admissions identified by Algorithm 2, the PPV was 97%. The PPV for Algorithm 1 was lower in one center (84%) compared with the other centers (93%-94%), whereas the PPV of Algorithm 2 remained high (96%-98%) across all subgroups. The sensitivity of Algorithms 1 (91%) and 2 (89%) was very good and remained so across subgroups (82%-97%). CONCLUSIONS An ICD-9-CM algorithm requiring a primary diagnosis of CM-I has excellent PPV and very good sensitivity for identifying CM-I decompression surgery in pediatric patients. These results establish a basis for utilizing administrative billing data to assess pediatric CM-I treatment outcomes.

Multizamide myelography and computed tomography in malformations of the cranio-vertebral junction and of the spine

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Gahbauer, H.; Rommel, T.; Banniza von Bazan, U.

1982-11-01

The Arnold-Chiari syndrome and the dysrhaphic disturbances are highly complex pathologic pictures. Often, the clinical findings and the variety of the basic pathologic disturbances are confusing. However, it is not always possible to detect all aspects of the disturbance in one conventional myelographic examination. In primary metrizamide computed tomography the applied KM dosages are considerably lower. This method facilitates the detailed imaging of osseous malformations, of associated spinal and paraspinal masses and their relation to the spinal cord.

Acute trauma-induced Budd-Chiari syndrome

International Nuclear Information System (INIS)

Izard, G.; Houri, R.; Randrianasolo, S.; Gailleton, R.

1995-01-01

The diagnosis of Budd-Chiari syndrome is based on clinical signs including liver enlargement and ascites and findings of complementary examinations: echography, echo-Doppler, cat scanning (CT-scan), magnetic resonance imaging, angiography, pressure readings, laparoscopy and biopsy. Trauma is rarely reported as a cause of acute Budd-Chiari syndrome. In some cases, the trauma is so violent the supra-hepatic veins are ruptured and the dramatic outcome leaves no time for the syndrome to develop. In others, the resulting haematomas form a compression block of the supra hepatic vessels. The mechanism of the trauma in our case appears to have been unreported to date. Four days after a violent motorcycle accident, a 33-year-old man developed an acute Budd-Chiari syndrome probably due to partial and temporary thrombosis of the left and middle supra hepatic veins. A side-to-side porto-cava anastomosis with a calibrated venous graft was performed in an emergency procedure. Outcome was quite favourable and after a 4 year follow-up, the patient is in good health. (authors). 13 refs

Chiari Malformation

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... Institutes of Health (NIH), the leading supporter of biomedical research in the world. The NINDS conducts research and ... Testimony Legislative Updates Impact NINDS Contributions to Approved Therapies ... Director, Division of Intramural Research

Surgical management of venous malformations.

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Loose, D A

2007-01-01

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

A points-based algorithm for prognosticating clinical outcome of Chiari malformation Type I with syringomyelia: results from a predictive model analysis of 82 surgically managed adult patients.

Science.gov (United States)

Thakar, Sumit; Sivaraju, Laxminadh; Jacob, Kuruthukulangara S; Arun, Aditya Atal; Aryan, Saritha; Mohan, Dilip; Sai Kiran, Narayanam Anantha; Hegde, Alangar S

2018-01-01

OBJECTIVE Although various predictors of postoperative outcome have been previously identified in patients with Chiari malformation Type I (CMI) with syringomyelia, there is no known algorithm for predicting a multifactorial outcome measure in this widely studied disorder. Using one of the largest preoperative variable arrays used so far in CMI research, the authors attempted to generate a formula for predicting postoperative outcome. METHODS Data from the clinical records of 82 symptomatic adult patients with CMI and altered hindbrain CSF flow who were managed with foramen magnum decompression, C-1 laminectomy, and duraplasty over an 8-year period were collected and analyzed. Various preoperative clinical and radiological variables in the 57 patients who formed the study cohort were assessed in a bivariate analysis to determine their ability to predict clinical outcome (as measured on the Chicago Chiari Outcome Scale [CCOS]) and the resolution of syrinx at the last follow-up. The variables that were significant in the bivariate analysis were further analyzed in a multiple linear regression analysis. Different regression models were tested, and the model with the best prediction of CCOS was identified and internally validated in a subcohort of 25 patients. RESULTS There was no correlation between CCOS score and syrinx resolution (p = 0.24) at a mean ± SD follow-up of 40.29 ± 10.36 months. Multiple linear regression analysis revealed that the presence of gait instability, obex position, and the M-line-fourth ventricle vertex (FVV) distance correlated with CCOS score, while the presence of motor deficits was associated with poor syrinx resolution (p ≤ 0.05). The algorithm generated from the regression model demonstrated good diagnostic accuracy (area under curve 0.81), with a score of more than 128 points demonstrating 100% specificity for clinical improvement (CCOS score of 11 or greater). The model had excellent reliability (κ = 0.85) and was validated with

Valoración de la capacidad laboral de la malformación de Arnold Chiari tipo I Valuation of work disability of the Arnold Chiari malformation

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Raúl Jesús Regal Ramos

2011-03-01

ándolas con los requerimientos del puesto de trabajo, no obstante existen una serie de aspectos comunes relevantes en la valoración laboral de estos pacientes.Introduction: The recent publication of a consensus document by the Research Institute of Rare Diseases, the increased incidence of Arnold-Chiari malformation (by the increased demand of cervical MRI and, simultaneously, the increased presence of these patients in hospitals where doctors can assess their functional capacity, invites us to reflect on the assessment of the working disability of these patients. Objectives: This review pretends to make an approach to various relevant aspects on the assessment of these patients' working disability. Material and methods: The following bibliographical database have been reviewed until May 2010: Medline, Embase, Cochrane. Results: The intensity of the symptoms (mostly pain is not directly related to the severity of the lesions observed in the imaging tests. The clinical symptoms may fluctuate, with periods of exacerbation and remission. The symptoms that best respond to surgery are those due to compression of the brainstem (especially cervical headache, disappearing in some cases. The presence of atrophy, ataxia, scoliosis in the pre surgery tests, and more than two years between the beginning of the symptoms and the surgery are poor post surgery evolution factors. Those clinical manifestations that do not disappear in the post surgery period or in the follow-up period could be related to permanent damage of the neural pathways or their nuclei. Despite being a congenital disease, it could be treated as a working accident, if symptoms appear after trauma. Evidence of the effectiveness of pain treatment is low. Conclusions: These patients' evaluation should always be individualized, considering the organic and or functional limitations and relating them to the requests of their job. Nevertheless, there exists a series of common relevant aspects in these patients' working

Budd-Chiari syndrome: CT and MRI findings

International Nuclear Information System (INIS)

Xu Kai; Li Lingsun

2008-01-01

Budd-Chiari syndrome is an uncommon but often fatal disorder resulting from obstruction of hepatic venous outflow tract at the level of the hepatic veins, the inferior vena cava. The CT and MRI characteristics of Budd-Chiari syndrome are reviewed in this article especially for displaying the exact site and extent of the obstruction. In addition to this direct sign, the indirect findings of venous obstruction such as the presence of intra-and extrahepatic collateral veins, caudate lobe enlargement, inhomogeneous liver enhancement, and regenerative nodules can also be demonstrated. Awareness of these findings is important for early diagnosis and appropriate treatment. (authors)

Budd-Chiari Syndrome in a Patient with Hepatitis C

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Joseph Frankl

2016-01-01

Full Text Available Chronic Budd-Chiari syndrome can present with cirrhosis and signs and symptoms similar to those of other chronic liver diseases. We present a case of Budd-Chiari syndrome discovered during attempted transjugular intrahepatic portosystemic shunting in a patient with decompensated cirrhosis believed to be secondary to hepatitis C. Although the patient had hepatocellular carcinoma, the Budd-Chiari syndrome was a primary disease due to hepatic venous webs. Angioplasty was performed in this case, which resolved the patient’s symptoms related to portal hypertension. Follow-up venography 5 months after angioplasty demonstrated continued patency of the hepatic veins. A biopsy was obtained in the same setting, which showed centrilobular fibrosis indicating that venous occlusion was indeed the cause of cirrhosis. It is important to consider a second disease when treating a patient with difficult to manage portal hypertension.

Cerebral and spinal MR-findings in patients with postrepair myelomeningocele

International Nuclear Information System (INIS)

Just, M.; Thelen, M.; Ludwig, B.

1990-01-01

In 114 patients with postrepair myelomeningocele MRI of the spine was performed. Tethered cord (89%) and associated malformations (syrinx, lipoma etc.) (33%) were the most important findings. Additional MRI scans of the head (44 patients) revealed numerous further anomalies. Arnold Chiari malformation was found in 76% of the patients (ACM I: 32%, ACM II: 44%). In the ACM II group compression of lower cranial nerves, brain stem, and cerebellum can lead to considerable neurologic symptoms. Therefore in patients with progressive neurologic dysfunction a complete investigation of the whole spine and brain is necessary. MRI proves to be the diagnostic procedure of choice in patients with dysraphic myelodysplasia. (orig.)

Budd Chiari Syndrome in a Fifteen-Year Old Girl with Systemic ...

African Journals Online (AJOL)

It is believed that in this patient, Budd Chiari Syndrome resulted from hepatic veinous thrombosis due to the presence of Lupus anticoagulants. As the young girl was suffering from antiphospholipid syndrome secondary to lupus, this milder form of Budd-Chiari Syndrome was later treated in India with surgical shunts.

Diagnosis and therapy of Budd-Chiari syndrome

International Nuclear Information System (INIS)

Bachmann, R.; Strunk, H.; Hofer, U.; Schild, H.; Brensing, K.A.

1998-01-01

Purpose: Budd-Chiari syndrome is a fairly uncommon disease in Europe. This often leads to its late diagnosis. The syndrome is characterised by portal hypertension and splanchnic congestion due to obstruction of hepatic venous outflow. This paper describes the treatment of three patients with Budd-Chiari syndrome by interventional therapeutic techniques and discusses alternative treatment modalities. Patients and Methods: The first patient presented with veno-occlusive disease and was treated by the placement of a transjugular intrahepatic portosystemic stentshunt. The second patient showed an occlusion of the major hepatic veins. After percutaneous recanalisation, a stent was placed in the right hepatic vein which remained patent. The third patient had a membranous obstruction of the right hepatic vein which was treated by percutaneous balloon dilatation. Results: In all patients the clinical symptoms resolved completely after treatment and no complications were encountered. Conclusions: The authors conclude that interventional therapeutic techniques offer a wide variety of possibilities for the treatment of patients with Budd-Chiari syndrome and are safe, effective and relatively inexpensive. However, further studies are required to assess the long-term results and survival rates of these patients. (orig.) [de

Expansion of Chiari I-associated syringomyelia after posterior-fossa decompression.

Science.gov (United States)

Gil, Z; Rao, S; Constantini, S

2000-09-01

Chiari I malformation (CMI) is an abnormality that involves caudal herniation of the cerebellar tonsils into the foramen magnum. CMI has been shown to be closely associated with the development of syringomyelia (SM). Several theories have emerged to explain the apparent correlation between the existence of CMI with subsequent development of SM. However, the exact mechanism of the evolution of SM is still subject to controversy. We report here the case of a 12-year-old girl admitted to hospital with headache, vomiting, ataxia, and moderate pyramidal signs. Radiological evaluation revealed the presence of CMI, accompanied by a small SM. The patient underwent posterior fossa decompression and improved significantly. She was re-admitted 6 months later with clinical evidence of progressive spinal cord dysfunction. MR revealed gross expansion of the syrinx. This case raises questions regarding the pathophysiology of CMI and its association with SM. The case indicates the need for neurological and radiological follow-up for patients undergoing posterior fossa decompression due to CMI, even for those without an initial syrinx. This is the first report known to us of expansion of a syrinx following decompression of an associated CMI.

Tonsillar pulsatility before and after surgical decompression for children with Chiari malformation type 1: an application for true fast imaging with steady state precession

International Nuclear Information System (INIS)

Radmanesh, Alireza; Greenberg, Jacob K.; Smyth, Matthew D.; Limbrick, David D.; Chatterjee, Arindam; Sharma, Aseem

2015-01-01

We hypothesize that surgical decompression for Chiari malformation type 1 (CM-1) is associated with statistically significant decrease in tonsillar pulsatility and that the degree of pulsatility can be reliably assessed regardless of the experience level of the reader. An Institutional Review Board (IRB)-approved Health Insurance Portability and Accountability Act (HIPAA)-compliant retrospective study was performed on 22 children with CM-1 (8 males; mean age 11.4 years) who had cardiac-gated true-FISP sequence and phase-contrast cerebrospinal fluid (CSF) flow imaging as parts of routine magnetic resonance (MR) imaging before and after surgical decompression. The surgical technique (decompression with or without duraplasty) was recorded for each patient. Three independent radiologists with different experience levels assessed tonsillar pulsatility qualitatively and quantitatively and assessed peritonsillar CSF flow qualitatively. Results were analyzed. To evaluate reliability, Fleiss kappa for multiple raters on categorical variables and intra-class correlation for agreement in pulsatility ratings were calculated. After surgical decompression, the degree of tonsillar pulsatility appreciably decreased, confirmed by t test, both qualitatively (p values <0.001, <0.001, and 0.045 for three readers) and quantitatively (amount of decrease/p value for three readers 0.7 mm/<0.001, 0.7 mm/<0.001, and 0.5 mm/0.022). There was a better agreement among the readers in quantitative assessment of tonsillar pulsatility (kappa 0.753-0.834), compared to qualitative assessment of pulsatility (kappa 0.472-0.496) and qualitative assessment of flow (kappa 0.056 to 0.203). Posterior fossa decompression with duraplasty led to a larger decrease in tonsillar pulsatility, compared to posterior fossa decompression alone. Tonsillar pulsatility in CM-1 is significantly reduced after surgical decompression. Quantitative assessment of tonsillar pulsatility was more reliable across readers than

Tonsillar pulsatility before and after surgical decompression for children with Chiari malformation type 1: an application for true fast imaging with steady state precession

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Radmanesh, Alireza [University of California, San Francisco, Department of Radiology and Biomedical Imaging, San Francisco, CA (United States); Washington University School of Medicine, Mallinckrodt Institute of Radiology, St Louis, MO (United States); Greenberg, Jacob K.; Smyth, Matthew D.; Limbrick, David D. [Washington University School of Medicine, Department of Neurosurgery, St Louis, MO (United States); Chatterjee, Arindam; Sharma, Aseem [Washington University School of Medicine, Mallinckrodt Institute of Radiology, St Louis, MO (United States)

2015-04-01

We hypothesize that surgical decompression for Chiari malformation type 1 (CM-1) is associated with statistically significant decrease in tonsillar pulsatility and that the degree of pulsatility can be reliably assessed regardless of the experience level of the reader. An Institutional Review Board (IRB)-approved Health Insurance Portability and Accountability Act (HIPAA)-compliant retrospective study was performed on 22 children with CM-1 (8 males; mean age 11.4 years) who had cardiac-gated true-FISP sequence and phase-contrast cerebrospinal fluid (CSF) flow imaging as parts of routine magnetic resonance (MR) imaging before and after surgical decompression. The surgical technique (decompression with or without duraplasty) was recorded for each patient. Three independent radiologists with different experience levels assessed tonsillar pulsatility qualitatively and quantitatively and assessed peritonsillar CSF flow qualitatively. Results were analyzed. To evaluate reliability, Fleiss kappa for multiple raters on categorical variables and intra-class correlation for agreement in pulsatility ratings were calculated. After surgical decompression, the degree of tonsillar pulsatility appreciably decreased, confirmed by t test, both qualitatively (p values <0.001, <0.001, and 0.045 for three readers) and quantitatively (amount of decrease/p value for three readers 0.7 mm/<0.001, 0.7 mm/<0.001, and 0.5 mm/0.022). There was a better agreement among the readers in quantitative assessment of tonsillar pulsatility (kappa 0.753-0.834), compared to qualitative assessment of pulsatility (kappa 0.472-0.496) and qualitative assessment of flow (kappa 0.056 to 0.203). Posterior fossa decompression with duraplasty led to a larger decrease in tonsillar pulsatility, compared to posterior fossa decompression alone. Tonsillar pulsatility in CM-1 is significantly reduced after surgical decompression. Quantitative assessment of tonsillar pulsatility was more reliable across readers than

[Association Budd Chiari syndrome, antiphospholipid syndrome and Grave's disease].

Science.gov (United States)

Mouelhi, Leila; Chaieb, Mouna; Debbeche, Radhouane; Salem, Mohamed; Sfar, Imene; Trabelsi, Sinda; Gorgi, Yosr; Najjar, Taoufik

2009-02-01

Antiphospholipid syndrome is revealed by Budd Chiari syndrome in 5% of the cases. Antiphospholipid syndrome is characterized by venous or arterial thrombosis, foetal loss and positivity of antiphospholipid antibodies, namely lupus anticoagulant, anticardiolipin antibodies and anti-beta2-glycoprotein I. Anticardiolipin antibodies was reported in auto-immune thyroid disorders, particularly in Grave's disease. Antiphospholipid syndrome associated to Grave's disease was reported in only three cases. To describe a case report of association of Grave's disease and antiphospholipid syndrome. We report the first case of Grave's disease associated with antiphospholipid syndrome, revealed by Budd Chiari syndrome. Our observation is particular by the fact that it is about a patient presenting a Grave's disease associated with antiphospholipid syndrome revealed by Budd Chiari syndrome. This triple association has never been reported in literature. Although association between antiphospholipid syndrome and Grave's disease was previously described, further studies evaluating the coexistence of these two affections in the same patient would be useful.

Expert consensus on the classification of subtype in Budd-Chiari syndrome

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Expert committee on Vane Cava Obstruction,Specialized CommitteeofEndovascology,ChineseMedicalDoctorAssociation

2017-07-01

Full Text Available From 2012 to 2015 the Department of Interventional Radiology of the Affiliated Hospital of Xuzhou Medical University undertook the clinical special research subject ”Study on the standardization of interventional diagnosis and treatment of Budd- Chiari syndrome”（No. BL2012021）， a program supported by the Department of Science and Technology of Jiangsu Province. Based on the clinical results of three years research and the scientific summary of the experience from more than 2150 cases accumulated in more than 20 years， the Department of Interventional Radiology of the Affiliated Hospital of Xuzhou Medical University presided over a demonstration meeting about “the standardization of interventional diagnosis and treatment of Budd- Chiari syndrome” on January 14， 2016 in Xuzhou City of Jiangsu Province， China. The scholars from the Expert Committee on Vena Cava Obstruction of Specialized Committee of Endovascology， Chinese Medical Doctor Association， as well as the experts from the related medical fields， including interventional radiology， vascular surgery， pathology and diagnostic imaging， who have been engaged in the study of Budd- Chiari syndrome， attended the meeting， and in the meeting the participants made a full and thorough discussion on the classification and subtypes of Budd - Chiari syndrome. The scholars and experts have unanimously reached a consensus on the subtype definition of Budd- Chiari syndrome: the Budd Chiari syndrome is suggested to be classified into the hepatic vein occlusion subtype， the inferior vena cava occlusion subtype and mixed occlusion subtype， including 10 subtype entities in total. The hepatic vein occlusion subtype includes membranous occlusion of hepatic vein/accessory hepatic vein， segmental occlusion of hepatic vein， extensive occlusion of hepatic vein， and hepatic vein occlusion associated with thrombus formation. The inferior vena cava occlusion subtype

Radiation-induced liver injury showing low intensity on T2-weighted images noted in Budd-Chiari syndrome

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Mori, Harushi [Tokyo Univ. (Japan). Graduate School of Medicine; Yoshioka, Hiroshi; Saida, Yukihisa; Itai, Yuji [Tsukuba Univ., Ibaraki (Japan). Inst. of Clinical Medicine; Mori, Kensaku [Tsukuba Univ., Ibaraki (Japan). Hospital; Ahmadi, T. [Shahid Beheshti Univ. of Medical Sciences, Teheran (Iran, Islamic Republic of); Okumura, Toshiyuki [Ibaraki Prefectural Central Hospital, Tomobe (Japan)

2002-04-01

Although it is documented that radiation can cause density or intensity changes on computed tomography or MR imaging in the irradiated hepatic parenchyma, few researchers have reported or understood the MR presentation of changes in hepatic parenchyma following radiotherapy in the patient with Budd-Chiari syndrome. The purpose of this study was to investigate the MR appearance of hepatic radiation injury in Budd-Chiari syndrome and to consider the underlying pathophysiology. The MR examinations of two patients with Budd-Chiari syndrome was compared with those of 11 patients without Budd-Chiari syndrome. The two groups, both of which suffered from hepatocellular carcinoma, underwent 50-72 Gy of proton-beam irradiation during a period of 14-43 days. Examinations including T1- and T2-weighted imaging, superparamagnetic iron oxide-enhanced imaging, and dynamic study were performed 3-10 weeks after the end of irradiation. Radiation-induced hepatic injury was observed as a low-intensity area on T2-weighted images and on delayed phase images of dynamic study in the Budd-Chiari patients, and as iso- or high-intensity areas on both images in the patients without Budd-Chiari syndrome. US-guided needle biopsy from the irradiated area in one patient with Budd-Chiari syndrome revealed mostly necrotic tissue and fibrous tissue. These MR features of hepatic radiation injury in Budd-Chiari syndrome were considered to be due to severe hepatic fibrosis. (author)

Chiari Malformation: Symptoms

Science.gov (United States)

... funded research in this area © 2012 C&S Patient Education Foundation, 10 ® This presentation is for informational purposes, consult a qualified professional for medical advice. Emotional Issues Emotional: associated with mood, temperament, personality, and ...

Chiari Malformation: Treatment

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... headaches, or neurological signs Doctor’s Judgment An experienced neurosurgeon does not think the symptoms will respond to ... surgery (posterior fossa decompression), is performed by a neurosurgeon to relieve pressure caused by herniated cerebellar tonsils. ...

Chiari Malformation: Diagnosis

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... strong odors can be detected, whether someone can smile or frown, and whether there are problems swallowing. ... heels, or walk heel-to-toe along a line. © 2012 C&S Patient Education Foundation, ® This presentation is ...

Spinal level of myelomeningocele lesion as a contributing factor in posterior fossa volume, intracranial cerebellar volume, and cerebellar ectopia.

LENUS (Irish Health Repository)

Sweeney, Kieron J

2013-02-01

McLone and Knepper\\'s unified theory of Chiari malformation Type II (CM-II) describes how the loss of CSF via the open posterior neuropore fails to create adequate distending pressure for the developing rhomboencephalic vesicle. The authors of the present article describe the relationship between the posterior fossa volume and intracranial cerebellar volume as being related to the distance from the obex of the fourth ventricle to the myelomeningocele lesion using a common mathematical model, the Hagen-Poiseuille law.

Classification of venous malformations in children and implications for sclerotherapy

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Puig, Stefan [Department of Radiology, University of Vienna, Waehringer Guertel 18-20, 1090 Vienna (Austria); Department of Paediatric Radiology, Hopital Necker-Enfants Malades, Paris (France); Aref, Hussein [Department of Paediatric Radiology, Hopital Necker-Enfants Malades, Paris (France); Department of Radiology, Alexandria Faculty of Medicine, Alexandria (Egypt); Chigot, Valerie; Brunelle, Francis [Department of Paediatric Radiology, Hopital Necker-Enfants Malades, Paris (France); Bonin, Beatrice [Paediatric Maxillofacial Surgery, Trousseau Hospital, Tours (France)

2003-02-01

The purpose of this work is to present a simple and descriptive classification system for venous malformations (VMs) that may serve as a basis for interventional therapy, and to test its usefulness in a sample of consecutively referred paediatric patients. The classification system we developed includes four types: type I, isolated malformation without peripheral drainage; type II, malformation that drains into normal veins; type III, malformation that drains into dilated veins; and type IV, malformation that represents dysplastic venous ectasia. The system was prospectively tested using phlebography in a sample of 43 children and adolescents with VMs who were referred for treatment during a 10-month period. Our hypothesis was that the type of VM would determine whether low-risk sclerotherapy was indicated. Thirteen (30%) patients had a type-I VM, 16 (37%) had a type-II, 9 (21%) had a type-III, and 5 (12%) had a type-IV malformation. In more than 90% of patients with a type-I or type-II lesion, sclerotherapy could be performed without any problems. In one third of patients with a type-III VM, sclerotherapy had to be withheld and one of nine (11%) developed a severe complication after therapy. Of the five patients with type-IV lesions, three (60%) had to be excluded from sclerotherapy. Our initial results indicate that sclerotherapeutic intervention in patients with type-III and type-IV VMs must be carefully considered, while it can be safely performed in low-risk patients with type-I and type-II lesions. (orig.)

Cerebral cavernous malformations. Serial magnetic resonance imaging findings in patients with and without gamma knife surgery

International Nuclear Information System (INIS)

Yoon Pyeong-Ho; Kim, Dong-Ik; Jeon Pyoung; Ryu, Young-Hoon; Hwang, Geum-Joo; Park, Sang-Joon

1998-01-01

To classify the cerebral cavernous malformations and to investigate the natural history of cavernous malformations according to the classification, 41 patients with 61 cavernous malformations (40 cavernous malformations from 22 patients treated with gamma knife surgery) were regularly followed up using MR imaging for a mean period of 25.5 months in treated cavernous malformations and 20.7 months in untreated cavernous malformations, respectively. Cavernous malformations were classified into four types. Follow-up MR images were analyzed to evaluate changes in size, signal intensity, rebleeding, and perilesional adverse reaction of irradiation. A total of 61 cavernous malformations including 17 in type I, 23 in type II, 10 in type III, and 11 in type IV showed usual degradation of blood product in 22 cavernous malformations, no change in shape and signal intensity in 31 cavernous malformations, and eight cavernous malformations with rebleedings in the serial MR images. In these eight cavernous malformations with rebleedings, six occurred in type II and two in type III, but none in type I or IV. Rebleedings were more frequent in type II than in other types. Adverse reaction of irradiation was observed in five of 22 patients treated with gamma knife surgery. Although most cerebral cavernous malformations showed evolution of hemorrhage or no change in size or shape on follow-up MR images, cerebral cavernous malformations represented as mixture of subacute and chronic hemorrhage with hemosiderin rim (type II) have a higher frequency to rebleed than other types of cerebral cavernous malformations. Cerebral cavernous malformations represented as hemosiderin deposition without central core (type IV) have a lower tendency to rebleed than other types and do not need any treatment. Most of the adverse reaction of irradiation after gamma knife surgery around cavernous malformations are transient findings and are considered to be perilesional edema. (K.H)

Arnold-Chiari-II malformation and cognitive functioning in spina bifida.

NARCIS (Netherlands)

Vinck, A.; Maassen, B.A.M.; Mullaart, R.A.; Rotteveel, J.J.

2006-01-01

Spina bifida is a multifaceted neurological condition with complex neuropsychological sequelae. The cognitive outcome in spina bifida has frequently been attributed to the severity of the hydrocephalus. However, because of complex neuropathology, the influence of hydrocephalus alone does not

Twelve years of chiari-like malformation and syringomyelia scanning in Cavalier King Charles Spaniels in the Netherlands: Towards a more precise phenotype.

Directory of Open Access Journals (Sweden)

Katrien Wijnrocx

Full Text Available Chiari-like malformation (CM, syringomyelia (SM and middle ear effusion (also called PSOM are three conditions that frequently occur in Cavalier King Charles Spaniels (CKCS. Both CM and SM are currently screened in the Netherlands prior to breeding and are graded according to the British Veterinary Association's Kennel Club (BVA/KC scheme. This study evaluated the prevalence and estimated genetic parameter of CM, SM and middle ear effusion from 12 years of screening results. For SM, the classical method using the BVA/KC scheme, was compared with exact measuring of the central canal dilation. For CM, the BVA/KC scheme was compared with a more detailed scheme. Next to this the presence of microchip artifacts was assessed. 1249 screening of 1020 dogs were re-evaluated. Results indicated the presence of CM in all dogs, suggesting it has become a breed-specific characteristic. And although different grades of CM were observed, the condition did not deteriorate over time. SM was present in 39% of the dogs and a clear age effect was demonstrated, with SM increasing with age. This emphasizes the importance of screening at appropriate age, since SM can worsen with increasing age. One alternative is to promote repeated measures. The presence of middle ear effusion in this study was 19%-21% for dogs younger than 3 years, and 32%-38% for dogs older than 3 years. In as much as 60%, microchip artifacts were noticed, leading to the recommendation to place microchips in another location in breeds that are susceptible to developing SM. Finally, this study estimated the heritability of CM in this population, due to the lack of phenotypic variance, to be very low at 0.02-0.03. The heritability for SM central canal dilatation to be 0.30, compared to 0.13 for the classical BVA/KC method, using a model including the age effect and the combined effect of veterinary clinic and year of the evaluation. Genetic correlations were rather small, ranging from 0.16-0.33. As a

Does the mesodermal derangement in Chiari Type I malformation extend to the cervical spine? Evidence from an analytical morphometric study on cervical paraspinal muscles.

Science.gov (United States)

Thakar, Sumit; Kurudi Siddappa, Avinash; Aryan, Saritha; Mohan, Dilip; Sai Kiran, Narayanam Anantha; Hegde, Alangar S

2017-10-01

OBJECTIVE The mesodermal derangement in Chiari Type I malformation (CMI) has been postulated to encompass the cervical spine. The objectives of this study were to assess the cross-sectional areas (CSAs) of cervical paraspinal muscles (PSMs) in patients with CMI without syringomyelia, compare them with those in non-CMI subjects, and evaluate their correlations with various factors. METHODS In this retrospective study, the CSAs of cervical PSMs in 25 patients were calculated on T2-weighted axial MR images and computed as ratios with respect to the corresponding vertebral body areas. These values and the cervical taper ratios were then compared with those of age- and sex-matched non-CMI subjects and analyzed with respect to demographic data and clinicoradiological factors. RESULTS Compared with the non-CMI group, the mean CSA values for the rectus capitis minor and all of the subaxial PSMs were lower in the study group, and those of the deep extensors were significantly lower (p = 0.004). The cervical taper ratio was found to be significantly higher in the study cohort (p = 0.0003). A longer duration of symptoms and a steeper cervical taper ratio were independently associated with lower CSA values for the deep extensors (p = 0.04 and p = 0.03, respectively). The presence of neck pain was associated with a lower CSA value for the deep flexors (p = 0.03). CONCLUSIONS Patients with CMI demonstrate alterations in their cervical paraspinal musculature even in the absence of coexistent syringomyelia. Their deep extensor muscles undergo significant atrophic changes that worsen with the duration of their symptoms. This could be related to a significantly steeper cervical taper ratio that their cervical cords are exposed to. Neck pain in these patients is related to atrophy of their deep flexor muscles. A steeper cervical taper ratio and alterations in the PSMs could be additional indicators for surgery in patients with CMI without syringomyelia.

Factor V G1691A (Leiden is a major etiological factor in Egyptian Budd-Chiari syndrome patients

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Tawhida Y. Abdel Ghaffar

2011-12-01

Full Text Available Objective: Budd-Chiari syndrome is a multifactorial disease in which several prothrombotic disorders may predispose patients to the development of thrombosis at this uncommon location (hepatic veins. The aim of this study was to determine the prevalence and characteristics of inherited thrombophilia in Egyptian Budd-Chiari syndrome patients.Materials and Methods: The study included 47 Budd-Chiari syndrome patients (20 children and 27 adults. Genotyping of Factor V G1691A (Leiden, prothrombin G20210A (PT, and methylenetetrahydrofolate reductase C677T were performed using real-time PCR and fluorescence melting curve detection analysis.Results: Factor V Leiden was observed in 29 patients (61.7%. It is the only factor that caused Budd-Chiari syndrome in 18 of the patients and in 5 of the patients with inferior vena cava involvement. Myeloproliferative disease was noted in 12 (25.5% patients, antiphospholipid syndrome in 5 (10.6%, and Behcet’s disease in 3 (6.4%. Interestingly, 3 of the children with Budd-Chiari syndrome had lipid storage disease.Conclusion: Factor V Leiden was a major etiological factor in Egyptian Budd-Chiari syndrome patients, which may have been related to the high frequency of this mutation in the study region. Factor V Leiden was also a strong thrombophilic factor and the leading cause of inferior vena cava thrombosis in these patients. Lipid storage disease should be included as a risk factor for Budd-Chiari syndrome.

Normal and pathological growth of the foramen occipitale magnum shown in the plain radiograph

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Bliesener, J.A.; Schmidt, L.R.

1980-01-01

The transverse diameter of the foramen occipitale magnum (f.o.m.) in the semiaxial skull X-ray was measured and evaluated statistically in 174 cerebrally healthy children of different ages. These normal values are contrasted with the foramen diameters of 35 children with verified Arnold-Chiari malformation as well as children with macrocephaly and microcephaly. The values in children with Arnold-Chiari malformation are all above the norm, irrespective of whether or not there is a concomitant hydrocephalus.

Effects of Co60 gamma radiation on Biomphalaria glabrata (Say, 1818) Embryo. II. Malformations

International Nuclear Information System (INIS)

Okazaki, K.; Kawano, T.

1990-01-01

The morphogenetic effects of ionizing radiation were investigated in Biomphalaria glabrata embryos irradiated in the cleavage, blastula, gastrula, young trochophore and trochophore stages with 5 to 25 Gy doses of 60 CO gamma radiation. The number of malformed embryos rapidly increased with increasing radiation dose, reaching a maximum between 5th to 8th day after irradiation in all stages analyzed. Susceptibility to malformation induction was higher the younger than the age of the irradiated embryo. However, for the cleavage stage the frequency of malformed embryos was inversely proportional to radiation dose for the same radiation dose. Several types of morphogenetic malformations were obtained, among then cephalic malformations, exogastrula, shell malformations and embryos with everted stomodeum, unspecific malformations being the most frequent. The results show that the types of malformation induced by radiation probably are not radiation-specific and do not depend on the dose applied [pt

Bilateral pulmonary thromboembolism and Budd-Chiari syndrome in a patient with Crohn's disease on oral contraceptives Tromboembolismo de pulmón bilateral y síndrome de Budd-Chiari en paciente con enfermedad de Crohn y toma de anticonceptivos orales

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M. Valdés Mas

2009-09-01

Full Text Available Budd-Chiari syndrome can be defined as an interruption or diminution of the normal blood flow out of the liver. Patients with Budd-Chiari syndrome present with varying degrees of symptomatology that can be divided into the following categories: fulminant, acute, subacute and chronic. The subacute form is the most common presentation. A majority of patients with Budd-Chiari syndrome have an underlying hypercoagulability state. We present the case of a young woman with Crohn's disease on oral contraceptives who developed bilateral pulmonary thromboembolism and Budd-Chiari syndrome.El síndrome de Budd-Chiari consiste en la interrupción o disminución de flujo de las venas suprahepáticas. Tiene una gran variabilidad clínica en cuanto a su forma de presentación siendo la más frecuente la forma subaguda. La gran mayoría de los pacientes responden a estados de hipercoagulabilidad. Presentamos el caso de una paciente joven con enfermedad de Crohn que estaba en tratamiento con anticonceptivos orales y desarrolló un cuadro clínico de tromboembolismo de pulmón bilateral y síndrome de Budd-Chiari.

Normal and pathological growth of the foramen occipitale magnum shown in the plain radiograph

International Nuclear Information System (INIS)

Bliesener, J.A.; Schmidt, L.R.

1980-01-01

The transverse diameter of the foramen occipitale magnum (f.o.m.) in the semiaxial skull X-ray was measured and evaluated statistically in 174 cerebrally healthy children of different ages. These normal values are contrasted with the foramen diameters of 35 children with verified Arnold-Chiari malformation as well as children with macrocephaly and microcephaly. The values in children with Arnold-Chiari malformation are all above the norm, irrespective of whether or not there is a concomitant hydrocephalus. (orig.) [de

MRI findings of intracranial cavernous malformations

International Nuclear Information System (INIS)

Han, Byoung Hee; Kim, Dong Ik; Cho, Yong Kuk

1995-01-01

To analyze the variable MRI features and clinical significance of intracranial cavernous malformations. Forty patients(mean age 35.4) with cavernous malformation were evaluated by MRI. Eleven patients were surgically confirmed. Cavernous malformations were divided into four categories on the basis of the MR imaging characteristics, especially on T2-weighted image. Type I lesion was defined as an extralesional subacute hemorrhage outside the low signal rim, type II as an intralesional hemorrhage surrounded by low signal rim, type III lesion as an intralesional thrombosis with variegated central core surrounded by low signal rim, and type IV lesion as a focal old hemorrhagic core with small low signal intensity. Type IV was further divided into IVa and IVb, whether the lesion has small iso-or hypersignal central core (IVa) or not (IVb). Follow-up MRI was evaluated in 12 patients who were managed conservatively. Follow-up intervals ranged from 2 weeks to 29 months (mean 6 months). Total 80 lesions were detected in 40 patients. Multiple lesions were noted in 10 patients. The topography of the cavernous malformations was supratentorial in 75% and infratentorial in 23%. There were 10 lesions in type I, 15 in type II, 21 in type III, 14 in type IVa, and 20 in type IVb. Type I lesions mainly showed mass effect and edema. Type III lesions showed minimal contrast enhancements in 7 lesions on delayed images. Type II lesions showed the characteristics of both type I and type III lesions. On follow up images, decrease in size in 5, change of type in 7, rebleeding in 2 and no change in 12 lesions were demonstrated. Hemorrhage, edema and mass effect were combined in the cases of rebleeding. On follow-up study, the estimated risk of bleeding was 32.3%/person-year and 13.7%/lesion-year. Cavernous malformations show as variable appearance, on MR imaging suggesting variable stages of evolution. The MR morphologic classification and evaluation of secondary findings are helpful to

CONGENITAL MALFORMATIONS OF THE FETUS, INCOMPATIBLE WITH LIFE, STRUCTURE, THEIR COMBINATION WITH CHANGES IN THE PLACENTA

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Екатерина Валерьевна Коломбет

2018-01-01

Conclusion. The structure of the detection of congenital fetal malformations, in the groups studied in the place I have malformations of the cardiovascular system, on the II – defects of the central nervous system, on III – multiple malformations. Often met with malformations of the umbilical cord than the placenta. On the I place among the signs of the pathological structure of the umbilical cord was a thin umbilical cord, on II – the false nodes of the umbilical cord, on III – the true ones.

Results of Chiari pelvic osteotomy for acetabular dysplasia in adults; Association with bone scintigraphic findings

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Nakamura, Nobuo; Ozono, Kenji; Sugano, Nobuhiko; Takaoka, Kunio; Ono, Hiroo (Osaka Univ. (Japan). Faculty of Medicine)

1993-02-01

In an attempt to determine indications of Chiari pelvic osteotomy in acetabular dysplasia, postoperative outcome of hip joint (64 joints) was examined on the basis of findings of bone scintigraphy. The subjects were 61 patients with osteoarthrosis of hip joint who underwent preoperative bone scintigraphy. The follow-up period ranged from 2 years to 9 years and 7 months with a mean of 4 years and 9 months. According to X-ray findings, 37 osteoarthrosis joints were staged as early and 27 as progressive. Preoperative bone scintigraphic findings fell into three: (I) normal or slight hot type (33 joints), (II) hot type at the weighting part (16 joints), and (III) double hot type in the weighting part and inside part (15 joints). None of the patients had severe surgical complications such as deep-seated infection, neuroparalysis and pseudojoint. According to the clinical staging for hip joint function, 7 (47%) of 64 joints were judged as poor after osteotomy, belonging to type III. Deterioration of osteoarthrosis was seen in 11 joints (41%) on X-ray films. Of these, 9 had type III. In conclusion, Chiari pelvic osteotomy should not be indicated when type III is shown on bone scintigrams. (N.K.).

Unusual Ventilatory Response to Exercise in Patient with Arnold-Chiari Type 1 Malformation after Posterior Fossa Decompression

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Keely Smith

2016-01-01

Full Text Available We present a case of a 17-year-old Hispanic male with Arnold-Chiari Type 1 [AC-Type 1] with syringomyelia, status post decompression, who complains of exercise intolerance, headaches, and fatigue with exertion. The patient was found to have diurnal hypercapnia and nocturnal alveolar hypoventilation. Cardiopulmonary testing revealed blunting of the ventilatory response to the rise in carbon dioxide (CO2 resulting in failure of the parallel correlation between increased CO2 levels and ventilation; the expected vertical relationship between PETCO2 and minute ventilation during exercise was replaced with an almost horizontal relationship. No new pathology of the brainstem was discovered by MRI or neurological evaluation to explain this phenomenon. The patient was placed on continuous noninvasive open ventilation (NIOV during the day and CPAP at night for a period of 6 months. His pCO2 level decreased to normal limits and his symptoms improved; specifically, he experienced less headaches and fatigue during exercise. In this report, we describe the abnormal response to exercise that patients with AC-Type 1 could potentially experience, even after decompression, characterized by the impairment of ventilator response to hypercapnia during exertion, reflecting a complete loss of chemical influence on breathing with no evidence of abnormality in the corticospinal pathway.

Multislice spiral computed tomography imaging in congenital inner ear malformations.

Science.gov (United States)

Ma, Hui; Han, Ping; Liang, Bo; Tian, Zhi-liang; Lei, Zi-qiao; Kong, Wei-jia; Feng, Gan-sheng

2008-01-01

The purpose of this study is to evaluate the usefulness of multislice spiral computed tomography (CT) in the diagnosis of congenital inner ear malformations. Forty-four patients with sensorineural hearing loss were examined on a Somatom Sensation 16 (Siemens) CT scanner. The 3-dimensional reconstructions and multiplanar reformation (MPR) were performed using the volume-rendering technique (VRT) on the workstation. Of the 44 patients examined for this study, 25 patients were found to be normal and 19 patients (36 ears) were diagnosed with congenital inner ear malformations. Of the malformations, the axial, MPR, and VRT images can all display the site and degree in 33 of the ears. Volume-rendering technique images were superior to the axial images in displaying the malformations in 3 ears with small lateral semicircular canal malformations. The common malformations were Michel deformity (1 ear), common cavity deformity (3 ears), incomplete partition I (3 ears), incomplete partition II (Mondini deformity) (5 ears), vestibular and semicircular canal malformations (14 ears), enlarged vestibular aqueduct (16 ears, 6 of which had other malformations), and internal auditory canal malformation (8 ears, all accompanied by other malformations). Multislice spiral CT allows a comprehensively assessment of various congenital inner ear malformations through high-quality MPR and VRT reconstructions. Volume-rendering technique images can display the site and degree of the malformation 3-dimensionally and intuitionisticly. This is very useful to the cochlear implantation.

Budd-Chiari syndrome and liver transplantation

Science.gov (United States)

Akamatsu, Nobuhisa; Sugawara, Yasuhiko; Kokudo, Norihiro

2015-01-01

Summary Budd-Chiari syndrome involves obstruction of hepatic venous outflow tracts at various levels from small hepatic veins to the inferior vena cava and is the result of thrombosis or its fibrous sequelae. There is a conspicuous difference in its etiology in the West and the East. Myeloproliferative disease predominates in the West and obstruction of the vena cava predominates in the East. The clinical presentation and clinical manifestations are so varied that it should be suspected in any patient with acute or chronic liver dysfunction. It should be treated with step-wise management. First-line therapy should be anticoagulation with medical treatment of the underlying illness, and interventional revascularization and TIPS are indicated in the event of a lack of response to medical therapy. Liver transplantation may be indicated as a rescue treatment or for fulminant cases with promising results. This step-by-step strategy has achieved a 5-year transplant-free survival rate of 70% and a 5-year overall survival rate of 90%. Living donor liver transplantation can also be used for patients with Budd-Chiari syndrome if deceased donor livers are scarce, but it requires a difficult procedure particularly with regard to venous outflow reconstruction. PMID:25674385

Dysgenesis of the corpus callosum and associated malformaaation{sup :} computed tomography and magnetic resonance imaging findings; Disgenesia do corpo caloso e mas-formacoes associadas: achados de tomografia computadorizada e ressonancia magnetica

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Montandon, Cristiano; Montandon Junior, Marcelo Eustaquio [Colegio Brasileiro de Radiologia e Diagnostico por Imagem (CBR), Sao Paulo, SP (Brazil); Ribeiro, Flavia Aparecida de Sousa; Lobo, Leonardo Valadares Barbosa; Teixeira, Kim-Ir-Sen Santos [Goias Univ., Goiania (Brazil). Hospital de Clinicas. Dept. de Diagnostico por Imagem e Anatomia Patologica]. E-mail: cabeca2@terra.com.br

2003-10-01

Callosal dysgenesis is a malformation of the corpus callosum with origins in the embryogenesis of the telencephalon. We reviewed the computed tomography and magnetic resonance imaging findings of 11 patients with callosal dysgenesis and one patient with normal corpus callosum associated with a lipoma. The patients were divided into three distinct groups: total agenesis (three patients), partial agenesis (six patients) and hypoplasia (two patients). Associated abnormalities were observed in nine patients, including Chiari II malformation (one patient), schizencephaly (one patient), interhemispheric cyst (two patients), Dandy-Walker cyst (one patient), nodular heterotopy (one patient) and lipoma of the corpus callosum (four patients). This paper presents a review that may contribute to the diagnosis of these disorders. (author)

Genetics Home Reference: capillary malformation-arteriovenous malformation syndrome

Science.gov (United States)

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

Fixed cord in spinal stenosis

International Nuclear Information System (INIS)

Levy, L.M.; Wang, H.; Francomano, C.; Hurko, O.; Carson, B.; Heffez, D.S.; DiChiro, G.; Bryan, R.N.

1990-01-01

This paper evaluates patients with cervical spinal canal compromise due to congenital anomalies (achondroplasia, Chiari malformation) and degenerative diseases using MR cord motion and cerebrospinal fluid (CSF) flow studies. Pulsatile longitudinal motion of the cervical cord was determined by means of cardiac-gated velocity phase contrast methods, including cine. Pathology included dwarfism (n = 15), Chiari malformation (n = 10), spondylosis (n = 10), and acute cord compression (n = 9). Symptomatic cases of congenital cervical stenosis had decreased cord motion, although CSF flow was not always significantly compromised. Postoperative cases demonstrated good cord and CSF motion, unless compression or obstruction was present

Etiology, management, and outcome of the Budd-Chiari syndrome

NARCIS (Netherlands)

S. Darwish Murad (Sarwa); A. Plessier (Aurelie); M. Hernandez-Guerra (Manuel); F. Fabris (Federica Margherita); C.E. Eapen (Chundamannil Eapen); M.J. Bahr (Matthias); J. Trebicka (Jonel); I. Morard (Isabelle); L. Lasser (Luc); J. Heller (Jörg); A. Hadengue (Antoine); P. Langlet (Philippe); H. Miranda (Helena); M. Primignani (Massimo); E. Elias (Elwyn); F.W.G. Leebeek (Frank); F.R. Rosendaal (Frits); J.C. Garcia-Pagan (Juan Carlos); D.C. Valla (Dominique Charle); H.L.A. Janssen (Harry)

2009-01-01

textabstractBackground: The Budd-Chiari syndrome (BCS) is hepatic venous outflow obstruction. What is known about the syndrome is based on small studies of prevalent cases. Objective: To characterize the causes and treatment of incident BCS. Design: Consecutive case series of patients with incident

Sagittal reconstruction computed tomography in metrizamide cisternography. Useful diagnostic procedure for malformations in craniovertebral junction and posterior fossa

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Mochizuki, H.; Okita, N.; Fujii, T.; Yoshioka, M.; Saito, H. (Tohoku Univ., Sendai (Japan). School of Medicine)

1982-08-01

We studied the sagittal reconstruction technique in computed tomography with metrizamide. Ten ml of metrizamide, 170 mg iodine/ml in concentration, were injected by lumbar puncture. After diffusion of the injected metrizamide, axial computed tomograms were taken by thin slice width (5 mm) with overlapped technique. Then electrical sagittal reconstruction was carried out by optioned software. Injection of metrizamide, non-ionic water soluble contrast media, made clear contrasts among bone, brain parenchyma and cerebrospinal fluid with computed tomography. Sagittal reconstruction technique could reveal more precise details and accurate anatomical relations than ordinary axial computed tomography. This technique was applied on 3 cases (Arnold-Chiari malformation, large cisterna magna and partial agenesis cerebellar vermis), which demonstrated a useful diagnostic procedure for abnormalities of craniovertebral junction and posterior fossa. The adverse reactions of metrizamide were negligible in our series.

Features of Somatic and Reproductive Status of Women, who Gave Birth to a Child with Congenital Malformations, and Their Identifiсation Using «Case — Control» Method According to Data of Lviv Regional Clinical Perinatal Center in 2007–2009

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Zborovska N.V. Zborovska N.V.

2012-04-01

While comparing a range of reproductive anamnesis indices there was noticed a higher percentage of dead children, stillbirths, anemia in pregnancy, gestosis in the first half of pregnancy, gestosis in the second half of pregnancy, abnormal labors in mothers who gave birth to a child with congenital malformations than in women of control group. According to ultrasound diagnosis congenital abnormalities in pregnancy were detected in 31.6 % of cases. There were diagnosed 4 cases of Arnold — Chiari syndrome (spina bifida and internal hydrocephalus; and 3 cases of each: hydrocephalus, gastroschisis, small intestinal atresia, and 2 cases of each: congenital malformations, hypoplastic left heart syndrome, Down’s syndrome, congenital diaphragmatic hernia, omphalocele, congenital rectal atresia, and 1 case of each: spina bifida, congenital absence of forearm and hand, left ventricular rabdomioma, encephalocele.

Disproportionate rise in serum CA 125 in case of budd chiari syndrome: an unusual presentation

OpenAIRE

Prasad D. Game; Madhuri P. Holay; Satyanarayan Durgam; Sandeep Kharkar

2015-01-01

Ca 125 is used as a diagnostic and prognostic biomarker for ovarian cancer. The level of CA 125 is also elevated in benign conditions like Budd Chiari syndrome, liver cirrhosis and heart failure. But very high level of CA 125 is rarely associated with benign conditions and this can mislead the physician. Here we present a case of budd chiari syndrome in postpartum period associated with very high level of CA 125 which is an unusual presentation. [Int J Res Med Sci 2015; 3(8.000): 2129-2131

Thalamic Massa Intermedia Duplication in a Dysmorphic 14 month-old Toddler.

Science.gov (United States)

Whitehead, Matthew T

2015-06-01

The massa intermedia is an inconstant parenchymal band connecting the medial thalami. It may be thickened in various disease processes such as Chiari II malformation or absent in other disease states. However, the massa intermedia may also be absent in up to 30% of normal human brains. To the best of my knowledge, detailed imaging findings of massa intermedia duplication have only been described in a single case report. An additional case of thalamic massa intermedia duplication discovered on a routine brain MR performed for dysmorphic facial features is reported herein.

Cerebral arteriovenous malformations. the relationship between clinical related events and rCBF SPECT imaging

International Nuclear Information System (INIS)

Sun Bo; Shi Xiangen

1996-01-01

To evaluate the relationship between clinical related events and rCBF SPECT imaging in patients with arteriovenous malformations (AVMs), the radioactive counting difference between normal and lesion site was divided by regional pixel considered as ischemic index (II). II was measured in 20 AVM cases and compared with patients' age, sex,neurological history and the size of lesions. The degree of rCBF reduction correlated with clinical neurological manifestation and showed no significant relationship with the age, sex and size of malformed vessels. II in patients with seizures was higher than that in patients with hemorrhage. The rCBF SPECT imaging may be useful for evaluation of the hemodynamics in AVMs

Kidney and Urinary Tract Congenital Malformations. Diagnosis and Evolution. 1999- 2005

International Nuclear Information System (INIS)

Aguilera Bauza, Mirna Pilar; Pena Perez, Raul; Ramirez Prieto, Juan Romelio; Martinez Feria, Rafael; Parra Cruz, Mariela; Pena Hernandez, Miguel Antonio

2008-01-01

A descriptive study in 351 patients at the Nephrology and Urology Services at 'Octavio de la Concepcion de la Pedraja' Teaching Pediatric Hospital from January 1999 to December 2005, was carried out. 535 kidney and urinary tract congenital malformations of 19 types were diagnosed. Primary vesicoureteral reflux and ureteropyelic stenosis were the most frequently malformations. The majority of these patients were diagnosed during the first year of the life. The most frequently clinic manifestation was urinary tract infection. Ultrasound study and cystouretrography were effective to diagnose these malformations. The majority of patients with prenatal diagnosis had congenital hydronephrosis. Posterior urethral valves were the principal cause of chronic renal failure. The I, II and III grades of Primary Vesicoureteral Reflux disappeared spontaneously with conservative treatment. There was a direct relationship between Reflux Nephropathy and the grade of these malformations

Le syndrome de Budd-Chiari: une complication rare de la ...

African Journals Online (AJOL)

L'atteinte hépatique au cours de la sarcoïdose est une localisation fréquente, habituellement asymptomatique. La cholestase anictérique et l'hypertension portale représentent ses principales complications. Le syndrome de Budd-Chiari est une complication peu connue qui demeure exceptionnelle. Nous rapportons un ...

Budd-chiari syndrome caused by diaphragmatic hernia of the liver: a case report

Energy Technology Data Exchange (ETDEWEB)

Song, Jae Min; Yoon, Jung Won; Kim, Jae Wook; Chung, Woo Kyoung; Chung, Hee Sun; Kim, Joo Hyung; Choi, Jun Ho; Kim, Seung Ho [Armed Forces Capital Hospital, Seongnam (Korea, Republic of)

2007-01-15

Budd-Chiari syndrome is an uncommon disorder, and it is caused by obstruction of the hepatic venous out-flow or inferior vena cava above the hepatic vein. It may result from a large number of conditions, including primary congenital obstructions of the hepatic veins or inferior vena cava by webs or bands. Secondary causes include trauma, polycythemia vera, chronic leukemia, pregnancy, tumors and use of oral contraceptives. No definitive etiologic factors have been identified in two thirds of all cases. We recently experienced a case of Budd-Chiari syndrome caused by diaphragmatic hernia in 21-year-old man. Postoperative follow up CT showed normal venous flow after reintroduction of the liver into the abdominal cavity and closure of the diaphragm defect.

Budd-chiari syndrome caused by diaphragmatic hernia of the liver: a case report

International Nuclear Information System (INIS)

Song, Jae Min; Yoon, Jung Won; Kim, Jae Wook; Chung, Woo Kyoung; Chung, Hee Sun; Kim, Joo Hyung; Choi, Jun Ho; Kim, Seung Ho

2007-01-01

Budd-Chiari syndrome is an uncommon disorder, and it is caused by obstruction of the hepatic venous out-flow or inferior vena cava above the hepatic vein. It may result from a large number of conditions, including primary congenital obstructions of the hepatic veins or inferior vena cava by webs or bands. Secondary causes include trauma, polycythemia vera, chronic leukemia, pregnancy, tumors and use of oral contraceptives. No definitive etiologic factors have been identified in two thirds of all cases. We recently experienced a case of Budd-Chiari syndrome caused by diaphragmatic hernia in 21-year-old man. Postoperative follow up CT showed normal venous flow after reintroduction of the liver into the abdominal cavity and closure of the diaphragm defect

Vascular malformations in pediatrics

International Nuclear Information System (INIS)

Reith, W.; Shamdeen, M.G.

2003-01-01

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

Malformação da transição crânio-vertebral como causa de síndrome do ângulo ponto-cerebelar: relato de dois casos Cerebello-pontine angle syndrome associated with cranio-vertebral malformation: report of two cases

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Amauri Batista da Silva

1972-03-01

Full Text Available Os autores relatam dois casos de síndrome do ângulo ponto-cerebelar nos quais não havia neoplasia nessa região. Ambos os pacientes apresentavam uma associação de impressão basilar com síndrome de Arnold-Chiari. Após cirurgia descompressiva de fossa posterior os casos evoluiram favoravelmente com a diminuição progressiva dos sintomas neurológicos, restando apenas, no segundo paciente, certo grau de paralisia e de espasmo facial, à direita. São feitas considerações em tôrno das causas mais freqüentes da síndrome do ângulo ponto-cerebelar, bem como acêrca dos quadros clínicos mais usualmente encontrados em doentes que apresentam malformações da transição crânio-vertebral. Finalmente, os autores tecem breves considerações a respeito do possível mecanismo lesionai do VIII, do V e do VII nervos cranianos nos dois casos relatados.Two cases of cerebelo-pontine angle syndrome associated with basilar impression and Arnold-Chiari malformation are reported. In both cases neuroradiological studies and surgical exploration failled to demonstrate any space occupying lesion. After surgery the patients progressively recovered disapearing the neurological symptoms except for a slaight hemifacial spasm that remained in case 2. Clinical signs present in cerebello-pontine angle lesions and the occipito-cervical malformations are discussed. A possible mechanism to explain the association of both conditions is discussed.

A prospective controlled study of sleep respiratory events in patients with craniovertebral junction malformation.

Science.gov (United States)

Botelho, Ricardo Vieira; Bittencourt, Lia Rita Azeredo; Rotta, José Marcos; Tufik, Sergio

2003-12-01

Craniovertebral junction malformation (CVJM) or Chiari malformation in adults, with or without syringomyelia and basilar invagination, produces neuronal dysfunction of the brainstem, cerebellum, cranial nerves, and upper spinal cord. The respiratory center and some of its afferent and efferent components can be altered in these diseases. The authors studied patients with and without CVJM to determine whether this physical feature contributed to sleep disturbances. Respiratory manifestations during sleep were studied prospectively, by using whole-night polysomnography, in 32 symptomatic patients (CVJM group) and 16 healthy volunteers (control group). Patients with CVJM presented with more sleep disturbances (reports of snoring and apnea) than those in the control group. The apnea/hypopnea index values were higher in patients with CVJMs than in the control group (13 +/- 15 compared with 3 +/- 6; p = 0.007) and the rate of central sleep apneas was higher in the CVJM than in the control group (22 +/- 30 compared with 4 +/- 8%; p = 0.009). The apnea/hypopnea index was highest in the subgroup with basilar invagination than in the other subgroups. The central apneic episodes were more frequent in the patients with basilar invagination (35 +/- 40%; p = 0.001) and in those with syringomyelia (17.6 +/- 24.6%; p = 0.003) than in the control group (4 +/- 8%). Patients with symptomatic CVJM, especially those with basilar invagination, presented with more sleep respiratory compromise than did those in the control group. The incidence of sleep apnea/hypopnea syndrome is significantly higher in patients with CVJM.

Cerebral palsy and congenital malformations

DEFF Research Database (Denmark)

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

2007-01-01

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

Cost-Effectiveness of Postoperative Ketamine in Chiari Decompression.

Science.gov (United States)

McDowell, Michael M; Alhourani, Ahmad; Pearce-Smith, Beverly A; Mazurkiewicz, Anna; Friedlander, Robert M

2018-02-01

In Chiari I patients, postoperative pain and discomfort frequently slow the transition back to the home setting. We sought to determine the effect of standardized ketamine infusion protocols on hospital length of stay (LOS). This retrospective cohort study reviewed 100 consecutive adult patients undergoing Chiari I decompression. Fifty-nine patients were placed on a 2-3 mg/hr ketamine drip until postoperative day 1. This group was compared with a group who received 2-3 mg/hr of ketamine until postoperative day 2 (19 patients) and patients who did not receive ketamine at all (22 patients). Clinical characteristics, opioid use, LOS, and relative hospitalization costs were assessed. All narcotic amounts were converted into milligram equivalents of morphine. LOS of the short-ketamine group was 46.5 hours when compared with the long-ketamine group (66.8 hours) and no-ketamine group (56.9 hours). There was a statistically significant difference when comparing the short-ketamine group with the long-ketamine group and no-ketamine group together (P ketamine protocol was used (P ketamine group, 196 mg in the long-ketamine group, and 187 mg in the no-ketamine group (P = 0.65). No adverse events from ketamine were noted. Ketamine at subanesthetic levels may be an effective tool to facilitate early return home postoperatively and may significantly reduce medical costs. Copyright © 2017 Elsevier Inc. All rights reserved.

Supratentorial CNS malformations

International Nuclear Information System (INIS)

Zlatareva, D.

2012-01-01

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

Craniocervical junction abnormalities with atlantoaxial subluxation caused by ventral subluxation of C2 in a dog

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Harumichi Itoh

2017-03-01

Full Text Available Craniocervical junction abnormalities with atlantoaxial subluxation caused by ventral subluxation of C2 were diagnosed in a 6-month-old female Pomeranian with tetraplegia as a clinical sign. Lateral survey radiography of the neck with flexion revealed atlantoaxial subluxation with ventral subluxation of C2. Computed tomography revealed absence of dens and atlanto-occipital overlapping. Magnetic resonance imaging showed compression of the spinal cord and indentation of caudal cerebellum. The diagnosis was Chiari-like malformation, atlantoaxial subluxation with ventral displacement of C2, atlanto-occipital overlapping, and syringomyelia. The dog underwent foramen magnum decompression, dorsal laminectomy of C1, and ventral fixation of the atlantoaxial joint. Soon after the operation, voluntary movements of the legs were recovered. Finally, the dog could stand and walk without assistance. The dog had complicated malformations at the craniocervical junction but foramen magnum decompression and dorsal laminectomy for Chiari-like malformation, and ventral fixation for atlantoaxial subluxation resulted in an excellent clinical outcome.

[Diagnostic significance of multi-slice computed tomography imaging in congenital inner ear malformations].

Science.gov (United States)

Ma, Hui; Han, Ping; Liang, Bo; Liu, Fang; Tian, Zhi-Liang; Lei, Zi-Qiao; Li, You-Lin; Kong, Wei-Jia

2005-04-01

To evaluate the feasibility and usability of multi-slice computed tomography (MSCT) in congenital inner ear malformations. Fourty-four patients with sensorineural hearing loss (SNHL) were examined by a Somatom Sensation 16 (siemens, Germany) CT scanner with following parameters: 120 kV, 100 mAs, 0.75 mm collimation, 1 mm reconstruction increment, a pitch factor of 1 and a field of view of 100 mm. The axial images of interested ears were reconstructed with 0.1 mm reconstruction increment, and a field of view of 50 mm. The 3D reconstructions were done with volume rendering technique (VRT) on the workstation (3D Virtuoso and Wizard,siemens). Twenty-five patients were normal and 19 patients (36 ears) were congenital inner ear malformations among 44 patients scanned with MSCT. Of the malformations, all the axial, MPR and VRT images can display the site and degree in 33 ears. VRT images were superior to the axial images in displaying the malformations in 3 ears with the small lateral semicircular canal malformations. The malformations were Michel deformity (1 ear), common cavity deformity (3 ears), incomplete partition I (3 ears), incomplete partition II (Mondini deformity, 5 ears), vestibular and semicircular canal malformations( 14 ears), vestibular aqueduct dilate( 16 ears, of which 6 ears accompanied by other malformations), the internal auditory canal malformation(8 ears, all accompanied by other malformations). MSCT allows a comprehensively assessing various congenital ear malformations through high quality MPR and VRT reconstructions. VRT images can display the site and degree of the malformations three-dimensionally and intuitionisticly. It is very useful to the cochlear implantation.

PTA and stenting for various types of Budd-Chiari syndrome

International Nuclear Information System (INIS)

Zhang Xinbao

2011-01-01

Objective: To investigate and evaluate PTA and stenting for various types of Budd-Chiari syndrome (BCS). Methods: 89 patients with BCS were diagnosed and treated during 7 years. The interventional procedures included: Percutaneous balloon dilatation (PBD) of inferior vena cava (IVC), PBD and stent placement for IVC, hepatic vein angioplasty via trans jugular vein, hepatic vein angioplasty via transhepatic and trans jugular approach, accessory hepatic vein angioplasty, percutaneous dual balloon dilatation for IVC and hepatic vein, and percutanous dual stent placement for IVC and hepatic vein. Results: The achievement ratio of PTA and stent placement was 96% and the mortality was 0%. The serious complication of PTA and stent placement of BCS was penetration into the pericardium, endovascular stent migration into right atrium. Conclusion: 1. PTA is a reliable procedures in treating type I a, II and III BCS, and TIPPS is useful for type I b BCS. But PTA and stenting is necessary for patients with type IV BCS. 2. Thrombolysis is needed for patients with type III, IV BCS. 3. Guiding of Color Doppler Ultrasound can improve the success of percutanous hepatic vein and reduce complications. (authors)

Congenital Malformations in River Buffalo (Bubalus bubalis

Directory of Open Access Journals (Sweden)

Sara Albarella

2017-02-01

Full Text Available The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival. This review depicts, in the river buffalo (Bubalus bubalis world population, the present status of the congenital malformations, due to genetic causes, to identify their frequency and distribution in order to develop genetic breeding plans able to improve the productive and reproductive performance, and avoid the spreading of detrimental gene variants. Congenital malformations most frequently reported in literature or signaled by breeders to the Department of Veterinary Medicine and Animal Production of the University Federico II (Naples, Italy in river buffalo are: musculoskeletal defects (transverse hemimelia, arthrogryposis, umbilical hernia and disorders of sexual development. In conclusion this review put in evidence that river buffalo have a great variety of malformations due to genetic causes, and TH and omphalocele are the most frequent and that several cases are still not reported, leading to an underestimation of the real weight of genetic diseases in this species.

Siringomielia y malformación de Arnold-Chiari

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Jairo Muñoz Escobar

1971-01-01

Full Text Available Presentamos en este informe, nuestra experiencia en ocho casos de siringomielia en dos de ellos asociada a malformación de Arnold Chiari, que hemos analizado desde el punto de vista clínico y de los hallazgos de radiología simple y contrastada. Analizamos igualmente las técnicas quirúrgicas empleadas y los resultados obtenidos en siete casos que fueron intervenidos quirúrgicamente. Finalmente comparamos nuestros hallazgos y resultados con los mencionados en la literatura y hacemos algunos comentarios sobre fisio-patología.

Budd-chiari syndrome by membranous obstruction of inferior vena cava: comparison of sonography and computed tomography

International Nuclear Information System (INIS)

Lee, Dong Ho; Lim, Jae Hoon; Ko, Young Tae; Yoon, Yup; Lim, Joo Won

1992-01-01

Membranous obstruction of the hepatic inferior vena cava (MOVC) is one of the common causes of Budd-Chiari syndrome. The aim of this study is to ascertain and compare the characteristic sonographic and CT findings of Budd-Chiari syndrome caused by MOVC. We studied 10 patients of Budd-Chiari syndrome caused by MOVC thorough sonography and CT. MOVC was confirmed by operation and/or inferior vena cavography. The cases included 9 men and one woman. With sonography, IVC obstruction was diagnosed in 9 cases. The cause of IVC obstruction was web in 5 cases and fibrous cord in 3 cases. The cause was unspecified in one case. Obliteration of the hepatic veins and intrahepatic collateral vessels were delineated in 9 cases. With color doppler sonography, the directions of blood flow of the hepatic veins through the intervenous communication were fairly well demonstrated in all 5 cases. With CT, IVC obstruction was diagnosed in 7 cases. The obliteration of the hepatic segment of the IVC were segmental in 6 cases and diffuse in one case. CT demonstrated communicating vessels between the hepatic veins in 3 cases. Furthermore, systemic collateral vessels (azygos and hemiazygos veins, veins along the abdominal wall, and internal mammary veins) were demonstrated in all cases. Liver cirrhosis was combined in all cases and hepatoma developed in 4 cases. Sonography is useful to detect the MOVC and to demonstrate hepatic venous obstruction and intrahepatic collateral vessels. Color doppler sonography is easily performed to show the direction of the blood flow through interconnecting vessels. CT shows the obliterated segment of the IVC clearly and multiple prominent systemic collaterals. In conclusion, Budd-Chiari syndrome caused by MOVC is accurately diagnosed by combined color doppler sonography and CT

[The usefullness of percutaneous transluminal balloon angioplasty in the management of budd-Chiari syndrome].

Science.gov (United States)

Kim, Se Hwan; Yu, Kyung Sool; Baek, Seung Min; Lee, Seung Yup; Kim, Hyun Su; Tak, Won Young; Kweon, Young Oh; Kim, Sung Kook; Choi, Yong Hwan; Chung, Joon Mo

2002-06-01

Membranous obstruction is the most common cause of Budd-Chiari syndrome in Orientals. Recently, percutaneous transluminal balloon angioplasty (PTBA) has been successfully applied as a treatment of membranous obstruction. We evaluated etiologies and clinical manifestations in our cases and the usefulness of PTBA. Twelve cases of Budd-Chiari syndrome were analyzed. 50.3 years was the average age of the cases (ranging from 37 to 67 years). Major symptoms or signs were superficial collateral vessels on the chest or the abdomen in 6 cases, ascites in 3, abdominal pain in 4, hepatomegaly in 4, splenomegaly in 3, melena or hematemesis in 2, and leg edema in 2. Upper gastrointestinal endoscopy showed esophageal varices in 6 cases and two of these 6 cases had gastric varices. Of 8 cases with liver cirrhosis, 4 were classified as Child-Pugh class A and 4 as B. Four patients with cirrhosis had concurrent hepatocellular carcinoma including 1 patient who was HBs Ag positive. Etiologies were membranous obstruction in 11 cases and protein C deficiency in 1 case. The main site of obstruction was IVC in 8 and hepatic vein in 4. PTBA was successfully performed in 8 cases of membranous obstruction. During the mean follow-up period of 27.6 months (12-40 months), there were no reobstructions except in 2 cases. The most common cause of Budd-Chiari syndrome in our cases was membranous obstruction of IVC. Percutaneous transluminal balloon angioplasty is a very useful treatment method.

A Retrospective 2D Morphometric Analysis of Adult Female Chiari Type I Patients with Commonly Reported and Related Conditions

Directory of Open Access Journals (Sweden)

Maggie S. Eppelheimer

2018-01-01

Full Text Available Purpose: Researchers have sought to better understand Chiari type I malformation (CMI through morphometric measurements beyond tonsillar position (TP. Soft tissue and bone structures within the brain and craniocervical junction have been shown to be different for CMI patients compared to healthy controls. Yet, several morphological characteristics have not been consistently associated with CMI. CMI is also associated with different prevalent conditions (PCs such as syringomyelia, pseudotumor, Ehlers-Danlos syndrome (EDS, scoliosis, and craniocervical instability. The goal of this study was two-fold: (1 to identify unique morphological characteristics of PCs, and (2 to better explain inconsistent results from case-control comparisons of CMI.Methods: Image, demographic, and PC information was obtained through the Chiari1000, a self-report web-accessed database. Twenty-eight morphometric measurements (MMs were performed on the cranial MR images of 236 pre-surgery adult female CMI participants and 140 female healthy control participants. Custom software was used to measure 28 structures within the posterior cranial fossa (PCF compartment, craniocervical junction, oral cavity, and intracranial area on midsagittal MR images for each participant.Results: Morphometric analysis of adult females indicated a smaller McRae line length in CMI participants with syringomyelia compared to those without syringomyelia. TP was reduced in CMI participants with EDS than those without EDS. Basion to posterior axial line was significantly longer in CMI participants with scoliosis compared to those without scoliosis. No additional MMs were found to differ between CMI participants with and without a specific PC. Four morphometric differences were found to be consistently different between CMI participants and healthy controls regardless of PC: larger TP and a smaller clivus length, fastigium, and corpus callosum height in CMI participants.Conclusion: Syringomyelia, EDS

Congenital Malformations in River Buffalo (Bubalus bubalis)

Science.gov (United States)

Albarella, Sara; Ciotola, Francesca; D’Anza, Emanuele; Coletta, Angelo; Zicarelli, Luigi; Peretti, Vincenzo

2017-01-01

malformations most frequently reported in literature or signaled by breeders to the Department of Veterinary Medicine and Animal Production of the University Federico II (Naples, Italy) in river buffalo are: musculoskeletal defects (transverse hemimelia, arthrogryposis, umbilical hernia) and disorders of sexual development. In conclusion this review put in evidence that river buffalo have a great variety of malformations due to genetic causes, and TH and omphalocele are the most frequent and that several cases are still not reported, leading to an underestimation of the real weight of genetic diseases in this species. PMID:28208595

Radiosurgery for brain arteriovenous malformations

International Nuclear Information System (INIS)

Latorzeff, I.; Schlienger, M.; Sabatier, J.; Borius, P.Y.; Lotterie, J.A.; Bourdin, S.; Menegalli, D.; Cognard, C.; Januel, A.C.; Desal, H.; Debono, B.; Blond, S.

2012-01-01

Radiosurgery as treatment for arteriovenous malformations has shown a good efficacy in reducing intracranial bleeding due to rupture. The choice of therapeutic modalities is based on evolutive risk and arteriovenous malformations volume, patient profile and risks stratification following therapeutic techniques (microsurgery, radiosurgery, embolization). Nidus size, arteriovenous malformations anatomical localization, prior embolization or bleeding, distributed dose are predictive factors for radio-surgery's good results and tolerance. This review article will highlight arteriovenous malformations radiosurgery indications and discuss recent irradiation alternatives for large arteriovenous malformation volumes. (authors)

Subacute Budd-Chiari syndrome associated with polycythemia vera and factor V Leiden mutation

NARCIS (Netherlands)

Simsek, S; Verheesen, RV; Haagsma, EB; Lourens, J

We describe a 48-year-old caucasian woman with a subacute Budd-Chiari syndrome attributed to the presence of polycythaemia vera, heterozygosity for the factor V Leiden mutation and the use of an oral contraceptive pill. Two diagnostic pitfalls were encountered. First, on CT scanning of the abdomen

Un libello di citazioni. I “Frammenti morali, scientifici, eruditi e poetici” e la polemica fra Pietro Verri e l’abate Chiari

Directory of Open Access Journals (Sweden)

Valeria Tavazzi

2012-12-01

Full Text Available After recreating the occurrence of the dispute between Pietro Verri and abbot Chiari – due to Verri's favour to Goldoni in theatrical competitions – this article analyses a work entirely composed of quotations: Frammenti morali, scientifici, eruditi e poetici del signor abbate D. Pietro Chiari. This text was assembled by Verri to show that his adversary's epistles in verse were sloppy and full of incongruities. The use of quotations, as an instrument of attack and defence, is investigated by analysing some passages that preceeded the quarrel, the Frammenti, and Chiari's answer in the novel La filosofessa italiana . In addition, there emerge some aspects of the character of young Verri that might be of interest, especially within the context of his relationship with Goldoni, and in relation to Goldoni's dedication to Verri in Festino.

Budd-Chiari and inferior caval vein syndromes due to membranous obstruction of the liver veins. Successful treatment with angioplasty and transcaval TIPS

DEFF Research Database (Denmark)

Holland-Fischer, Peter

2004-01-01

The case is presented of a 25-year-old Caucasian patient with Budd-Chiari syndrome due to membranous obstruction of the liver veins and inferior caval vein syndrome as a result of secondary hyperplasia of the caudate lobe of the liver, obstructing the caval vein. Diagnosis was established...... that angioplasty and TIPS are safe and efficient procedures to reduce liver engorgement and complications of portal hypertension in selected patients with Budd-Chiari syndrome....

Disorders of migration and sulcation in infants and children: MR spectrum at 1.5 T

International Nuclear Information System (INIS)

Boyer, R.S.; Nixon, G.W.; Smoker, W.R.K.; Harnsberger, H.R.; Osborn, A.G.

1987-01-01

In 750 consecutive high-field-strength (1.5-T) pediatric brain MR imaging studies the authors encountered a fascinating spectrum of developmental anomalies of migration, gyration, and sulcation in 11 patients. Lesions were characterized by disorder anatomy but normal gray-matter signal. MR imaging was excellent in revealing pachygyria, polymicrogyria, agyria (lissencephaly), heterotopia, and schizencephaly, and in displaying associated development anomalies, such as agenesis of the corpus callosum, encephalocele, Chiari II malformation, septo-optic dysplasia, lobar holoprosencephaly, and unilateral megalencephaly. The improved demonstration of gray-matter abnormalities that is possible with high-field-strength MR imaging facilitates recognition of these lesions and associated anomalies

Radiographic evaluation of 70 patients with absence of the corpus callosum

International Nuclear Information System (INIS)

Byrd, S.E.; Flannery, A.; Osborn, R.E.; Radkowski, M.A.; Naidich, T.P.; Bohan, T.P.

1987-01-01

Absence (agenesis) of the corpus callosum is one of the most common congenital malformations of the brain seen in the pediatric population. The authors used CT, MR imaging, or US to study 70 children with absence of the corpus callosum. Patients were divided into two groups; those with isolated absence of the corpus callosum, and those with other associated brain lesions. The associated brain lesions included interhemispheric arachnoid cyst, Dandy-Walker malformations, encephaloceles, and migrational disorders (heterotopias, schizencephaly, lissencaphaly, septo-optic dysplasia, lipoma, Chiari malformations, and holoprosenscephaly). The clinical presentations and radiologic findings are described

Congenital spinal malformations

International Nuclear Information System (INIS)

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

2001-01-01

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

Stent Angioplasty of Closed Mesocaval Shunt in a Patient with Budd-Chiari Syndrome

International Nuclear Information System (INIS)

Sancak, Tanzer; Karagulle, Ayse Tuba; Bilgic, Sadik; Sanlidilek, Umman; Yerdel, Mehmet Ali

2002-01-01

Budd-Chiari syndrome (BCS) is an uncommon disorder caused by hepatic venous outflow obstruction. It is characterized by ascites, hepatomegaly and abdominal pain. Percutaneous intervention shave recently been used for the treatment of BCS. We present a case of BCS with a closed mesocaval shunt which was reopened with a self-expandable metallic stent

Imperforated cor triatriatum dexter in a dog with concurrent caudal vena cava wall mineralization

NARCIS (Netherlands)

Dobak, Tetyda Paulina; Starrak, Gregory; Linn, Kathleen; Snead, Elisabeth Christine Roberston

2017-01-01

BACKGROUND: Cor triatriatum dexter (CTD) is a rare congenital cardiac malformation with various manifestations and has been sporadically described in dogs. Clinically the dogs present with nonspecific signs of right heart failure or Budd-Chiari-like syndrome. Other associated concurrent

Disease: H01675 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available (CSF) flow dynamics related to hindbrain disorders, e.g. Chiari malformation, Dandy-Walker...ormation, and H01675 Dandy-Walker syndrome. ICD-10: G95.0 Q06.4 MeSH: D013595 OMIM: 186700 PMID:25236931 ... A

An approach to the developmental and cognitive profile of the child ...

African Journals Online (AJOL)

Total scores tend to be less useful than more specific subscales as there are. ARTICLE. An approach to ... of constructive memory. Rote learning is the ability to learn and recall .... Arnold-Chiari-2 malformation and cognitive functioning in spina ...

Pediatric central nervous system vascular malformations

Energy Technology Data Exchange (ETDEWEB)

Burch, Ezra A. [Brigham and Women' s Hospital, Department of Radiology, Boston, MA (United States); Orbach, Darren B. [Boston Children' s Hospital, Neurointerventional Radiology, Boston, MA (United States)

2015-09-15

Pediatric central nervous system (CNS) vascular anomalies include lesions found only in the pediatric population and also the full gamut of vascular lesions found in adults. Pediatric-specific lesions discussed here include infantile hemangioma, vein of Galen malformation and dural sinus malformation. Some CNS vascular lesions that occur in adults, such as arteriovenous malformation, have somewhat distinct manifestations in children, and those are also discussed. Additionally, children with CNS vascular malformations often have associated broader vascular conditions, e.g., PHACES (posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies, eye anomalies and sternal anomalies), hereditary hemorrhagic telangiectasia, and capillary malformation-arteriovenous malformation syndrome (related to the RASA1 mutation). The treatment of pediatric CNS vascular malformations has greatly benefited from advances in endovascular therapy, including technical advances in adult interventional neuroradiology. Dramatic advances in therapy are expected to stem from increased understanding of the genetics and vascular biology that underlie pediatric CNS vascular malformations. (orig.)

Pediatric central nervous system vascular malformations

International Nuclear Information System (INIS)

Burch, Ezra A.; Orbach, Darren B.

2015-01-01

Pediatric central nervous system (CNS) vascular anomalies include lesions found only in the pediatric population and also the full gamut of vascular lesions found in adults. Pediatric-specific lesions discussed here include infantile hemangioma, vein of Galen malformation and dural sinus malformation. Some CNS vascular lesions that occur in adults, such as arteriovenous malformation, have somewhat distinct manifestations in children, and those are also discussed. Additionally, children with CNS vascular malformations often have associated broader vascular conditions, e.g., PHACES (posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies, eye anomalies and sternal anomalies), hereditary hemorrhagic telangiectasia, and capillary malformation-arteriovenous malformation syndrome (related to the RASA1 mutation). The treatment of pediatric CNS vascular malformations has greatly benefited from advances in endovascular therapy, including technical advances in adult interventional neuroradiology. Dramatic advances in therapy are expected to stem from increased understanding of the genetics and vascular biology that underlie pediatric CNS vascular malformations. (orig.)

Angiographic and hemodynamic evaluation of the mesoatrial shunt in patients with Budd-Chiari syndrome and inferior vena caval obstruction

International Nuclear Information System (INIS)

Redmond, P.L.; Kadir, S.; Cameron, J.L.; Kaufman, S.L.; White, R.I. Jr.

1986-01-01

Obstruction of the inferior vena cava (IVC) is not uncommon in patients with the Budd-Chiari syndrome. The caval obstruction may be due to thrombus or compression by an enlarged caudate lobe. Conventional portosystemic shunts are not possible in the presence of an obstructed IVC; the mesoatrial shunt is indicated in these patients. Between 1973 and 1986, the authors studied 13 patients (ten female, three male) with Budd-Chiari syndrome and IVC obstruction in whom mesoatrial shunts were subsequently constructed. Polycythemia rubra vera was the most common predisposing condition. Preoperative evaluation included US, scintigraphy, CT, and angiography (hepatic arteriography, hepatic venography and pressure measurements, inferior vena cavography, arterial portography). Postoperatively shunts were assessed angiographically and hemodynamically, and several patients underwent CT. The shunts were catheterized via a brachial or femoral venous approach, which allowed pressures along the shunt from the superior mesenteric vein to the right atrium to be measured. The mesoatrial shunt is a relatively new procedure which is indicated in patients with the Budd-Chiari syndrome complicated by IVC obstruction. Shunt patency may be demonstrated arteriographically or with CT, but hemodynamic evaluation with measurement of pressure gradients is required to assess shunt function

Dandy-Walker Malformation

African Journals Online (AJOL)

rme

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

Retroperitoneal myxoid liposarcoma of the renal capsule causing Budd-Chiari syndrome

International Nuclear Information System (INIS)

Gruetzner, G.; Fuerst, G.; Kuhn, F.P.; Kliche, K.O.

1991-01-01

A retroperitoneal myxoid liposarcoma of the renal capsule must be differentiated from renal cell carcinomas, angiomyolipomas, fibrogenous lipomas, fibrolipomas and mixed tumours containing fat tissue. Myxoid liposarcomas can lead to intracavale tumourthromboses, which is often the case with renal cell carcinomas and revealed clinical with Budd-Chiari syndrome. Computed tomography and magnetic resonance imaging give additional information in the diagnosis of intracaval tumourthromboses and show the exact expansion of the topographic-anatomical structure. (orig.) [de

Facial nerve mapping and monitoring in lymphatic malformation surgery.

Science.gov (United States)

Chiara, Jospeh; Kinney, Greg; Slimp, Jefferson; Lee, Gi Soo; Oliaei, Sepehr; Perkins, Jonathan A

2009-10-01

Establish the efficacy of preoperative facial nerve mapping and continuous intraoperative EMG monitoring in protecting the facial nerve during resection of cervicofacial lymphatic malformations. Retrospective study in which patients were clinically followed for at least 6 months postoperatively, and long-term outcome was evaluated. Patient demographics, lesion characteristics (i.e., size, stage, location) were recorded. Operative notes revealed surgical techniques, findings, and complications. Preoperative, short-/long-term postoperative facial nerve function was standardized using the House-Brackmann Classification. Mapping was done prior to incision by percutaneously stimulating the facial nerve and its branches and recording the motor responses. Intraoperative monitoring and mapping were accomplished using a four-channel, free-running EMG. Neurophysiologists continuously monitored EMG responses and blindly analyzed intraoperative findings and final EMG interpretations for abnormalities. Seven patients collectively underwent 8 lymphatic malformation surgeries. Median age was 30 months (2-105 months). Lymphatic malformation diagnosis was recorded in 6/8 surgeries. Facial nerve function was House-Brackmann grade I in 8/8 cases preoperatively. Facial nerve was abnormally elongated in 1/8 cases. EMG monitoring recorded abnormal activity in 4/8 cases--two suggesting facial nerve irritation, and two with possible facial nerve damage. Transient or long-term facial nerve paresis occurred in 1/8 cases (House-Brackmann grade II). Preoperative facial nerve mapping combined with continuous intraoperative EMG and mapping is a successful method of identifying the facial nerve course and protecting it from injury during resection of cervicofacial lymphatic malformations involving the facial nerve.

Diagnosis and Management of Budd Chiari Syndrome: An Update

International Nuclear Information System (INIS)

Copelan, Alexander; Remer, Erick M.; Sands, Mark; Nghiem, Hanh; Kapoor, Baljendra

2015-01-01

Imaging plays a crucial role in the early detection and assessment of the extent of disease in Budd Chiari syndrome (BCS). Early diagnosis and intervention to mitigate hepatic congestion is vital to restoring hepatic function and alleviating portal hypertension. Interventional radiology serves a key role in the management of these patients. The interventionist should be knowledgeable of the clinical presentation as well as key imaging findings, which often dictate the approach to treatment. This article concisely reviews the etiology, pathophysiology, and clinical presentation of BCS and provides a detailed description of imaging and treatment options, particularly interventional management

Diagnosis and Management of Budd Chiari Syndrome: An Update

Energy Technology Data Exchange (ETDEWEB)

Copelan, Alexander, E-mail: alexander.copelan@beaumont.edu [William Beaumont Hospital, Diagnostic Radiology Department (United States); Remer, Erick M., E-mail: remere1@ccf.org; Sands, Mark, E-mail: sandsm@ccf.org [Cleveland Clinic, Imaging Institute (United States); Nghiem, Hanh, E-mail: HNghiem@beaumont.edu [William Beaumont Hospital, Diagnostic Radiology Department (United States); Kapoor, Baljendra, E-mail: kapoorb@ccf.org [Cleveland Clinic, Imaging Institute (United States)

2015-02-15

Imaging plays a crucial role in the early detection and assessment of the extent of disease in Budd Chiari syndrome (BCS). Early diagnosis and intervention to mitigate hepatic congestion is vital to restoring hepatic function and alleviating portal hypertension. Interventional radiology serves a key role in the management of these patients. The interventionist should be knowledgeable of the clinical presentation as well as key imaging findings, which often dictate the approach to treatment. This article concisely reviews the etiology, pathophysiology, and clinical presentation of BCS and provides a detailed description of imaging and treatment options, particularly interventional management.

[Identification of risk factors for congenital malformations].

Science.gov (United States)

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

2014-11-01

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

A Case of Acute Budd-Chiari Syndrome Complicating Primary Antiphospholipid Syndrome Presenting as Acute Abdomen and Responding to Tight Anticoagulant Therapy

Directory of Open Access Journals (Sweden)

Naofumi Chinen

2016-01-01

Full Text Available A 34-year-old woman with primary antiphospholipid syndrome was admitted to the Gastroenterology Department of our hospital with fever, acute abdomen, watery diarrhea, and extremely high levels of inflammatory parameters. She had a history of left lower limb deep vein thrombosis and pulmonary embolism and was taking warfarin potassium. Acute gastroenteritis was suspected and an antibiotic was administered, but symptoms progressed. Abdominal ultrasonography showed occlusion of the left hepatic vein and the middle hepatic vein and her D-dimer level was high. Accordingly, Budd-Chiari syndrome was diagnosed and high-dose intravenous infusion of heparin was initiated. Her abdominal symptoms improved and the levels of inflammatory parameters and D-dimer decreased rapidly. It is known that antiphospholipid syndrome can be complicated by Budd-Chiari syndrome that usually occurs as subacute or chronic onset, but acute onset is rare. It is difficult to diagnose acute Budd-Chiari syndrome complicating antiphospholipid syndrome and this complication generally has a poor outcome. However, the present case can get early diagnosis and successful treatment with tight anticoagulant therapy.

Aortic arch malformations

Energy Technology Data Exchange (ETDEWEB)

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

2010-06-15

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

Aortic arch malformations

International Nuclear Information System (INIS)

Kellenberger, Christian J.

2010-01-01

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

MRI of the brain: malformations

International Nuclear Information System (INIS)

Treguier, C.; Heautot, J.F.; Gandon, Y.; Carsin, M.; Buhe, T.; Weppe, V.

1990-01-01

Brain malformations include occlusion, diverticula, neuronal migration abnormalities, cystic malformations, and histogenetic disorders in neurocutaneous syndromes. The multiple planes of section, excellent white/gray matter differentiation and accurate delineation of the brain cortex available with magnetic resonance imaging make it a tool of choice for the diagnosis of malformations, as well as for prognosis and genetic counseling [fr

RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation.

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Flore, Leigh Anne; Leon, Eyby; Maher, Tom A; Milunsky, Jeff M

2012-06-01

Capillary malformation-arteriovenous malformation (CM-AVM; MIM 60354) is an autosomal dominant disorder characterized by multifocal cutaneous capillary malformations, often in association with fast-flow vascular lesions, which may be cutaneous, subcutaneous, intramuscular, intraosseus, or cerebral arteriovenous malformations or arteriovenous fistulas. CM-AVM results from heterozygous mutations in the RASA1 gene. Capillary malformations of the skin are common, and clinical examination alone may not be able to definitively diagnose-or exclude- CM-AVM. We report a family in which the proband was initially referred for a genetic evaluation in the neonatal period because of the presence of a cardiac murmur and minor dysmorphic features. Both he and his mother were noted to have multiple capillary malformations on the face, head, and extremities. Echocardiography revealed dilated head and neck vessels and magnetic resonance imaging and angiography of the brain revealed a large infratentorial arteriovenous fistula, for which he has had two embolization procedures. RASA1 sequence analysis revealed a heterozygous mutation, confirming his diagnosis of CM-AVM. We established targeted mutation analysis for the proband's mother and sister, the latter of whom is a healthy 3-year-old whose only cutaneous finding is a facial capillary malformation. This revealed that the proband's mother is also heterozygous for the RASA1 mutation, but his sister is negative. Consequently, his mother will undergo magnetic resonance imaging and angiography screening for intracranial and spinal fast-flow lesions, while his sister will require no imaging or serial evaluations. Targeted mutation analysis has been offered to additional maternal family members. This case illustrates the benefit of molecular testing in diagnosis and making screening recommendations for families with CM-AVM.

Comparative evaluation of ultrasonography, computed tomography and magnetic resonance imaging in the follow-up of Budd-Chiari syndrome

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Legmann, P; Levesque, M; De, Broucker F; F,; Hay, J M; Maillard, J N

1988-01-01

A comparative evaluation of ultrasonography, computed tomography and MRI in 8 patients operated for Budd-Chiari syndrome is reported. The results obtained, evaluated separately for each technique and then compared between each other and with the data of superior coelio-mesenteric angiography and inferior cavography, show that the MRI data is very clearly superior to the data obtained by ultrasonography and computed tomography. MRI allows simultaneous assessment of the hepatic parenchyma, evaluation of portal hypertension and the porto-caval anastomosis, which are all essential elements in the follow-up Budd-Chiari syndrome. However, in the light of the literature, the authors stress that ultrasonography associated with pulsed Doppler also ensures satisfactory vascular and parenchymal assessment of this disease in the majority of cases.

Comparative evaluation of ultrasonography, computed tomography and magnetic resonance imaging in the follow-up of Budd-Chiari syndrome

International Nuclear Information System (INIS)

Legmann, P.; Levesque, M.; Broucker, F. de; Hay, J.M.; Maillard, J.N.

1989-01-01

The authors report a comparative evaluation of ultrasonography, computed tomography and MRI in 8 patients operated for Budd-Chiari syndrome. The results obtained, evaluated separately for each technique and then compared between each other and with the data of superior coelio-mesenteric angiography and inferior cavography, showed that MRI data is very clearly superior to the data obtained by ultrasonography and computed tomography. MRI allows simultaneous assessment of the hepatic parenchyma, and evaluation of portal hypertension and the porto-caval anastomosis, which are all essential elements in the follow-up Budd-Chiari syndrome. However, in the light of the literature, the authors stress that ultrasonography associated with pulsed Doppler also ensures satisfactory vascular and parenchymal assessment of this disease in the majority of cases [fr

Genetics Home Reference: Dandy-Walker malformation

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... Twitter Home Health Conditions Dandy-Walker malformation Dandy-Walker malformation Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description Dandy-Walker malformation affects brain development, primarily development of the ...

Achados cirúrgicos em 260 casos de impressão basilar e/ou malformação de Arnold-Chiari

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José Alberto Gonçalves da Silva

1994-09-01

Full Text Available A impressão basilar é malformação frequentemente observada no Nordeste do Brasil. No período de 1971 a 1992 foram operados, em nosso Serviço, 260 pacientes com malformações occipitocervicais, sendo 29 (11,1% casos de impressão basilar pura, 18 (6,9% com malformação de Arnold-Chiari e 213 (81,9% com impressão basilar associada à malformação de Arnold-Chiari. São relatados os achados cirúrgicos do plano ósseo, da dura-máter, do tecido nervoso e dos vasos da fossa posterior.

RISK FACTORS IN CHILD CONGENITAL MALFORMATIONS

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Alina-Costina LUCA; Mirabela SUBOTNICU

2015-01-01

Congenital heart malformations are among the most common congenital malformations. Congenital heart malformations occur due to genetic and environmental factors during embryonic morphogenesis period of the heart. About 25% of these malformations are severe, requiring intervention immediately after birth or in infancy. Abnormalities of structure and function of the heart and great vessels are the consequence of teratogenic factors occurring between day 19 and 45 of gestation. (Yagel et al...

Cardiac and vascular malformations

International Nuclear Information System (INIS)

Ley, S.; Ley-Zaporozhan, J.

2015-01-01

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

MR imaging of the spine in children

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Duthoy, M.J.; Lund, G.

1988-08-01

MR imaging was reviewed in 66 pediatric spinal cord patients with diagnoses of posterior fossa tumor, primary spinal cord tumor, metastatic disease, neuroectodermal disorder, congenital malformation, trauma, and demyelinating, neurodegenerative, or metabolic disorders. MR proved to be useful in delineating the extent of posterior fossa and cord tumor including metastasis to the cord. MR was of limited value in demyelinating and metabolic disorders. Arnold Chiari malformations, syringomyelia, tethered cord and meningoceles were all easily evaluated using MR.

Budd–Chiari Syndrome in Young Chinese: Clinical Characteristics, Etiology and Outcome of Recanalization from a Single Center

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Zhou, Wen-Jie, E-mail: 776260859@qq.com; Cui, Yan-Feng, E-mail: cuiyanfeng366@126.com; Zu, Mao-Heng, E-mail: cjr.zumaoheng@vip.163.com; Zhang, Qing-Qiao, E-mail: 1427286069@qq.com; Xu, Hao, E-mail: xuhao585@yeah.net [Affiliated Hospital of Xuzhou Medical College, Department of Interventional Radiology (China)

2016-04-15

PurposeWe aimed to characterize the clinical profile, etiology, and outcomes of young Chinese patients with Budd–Chiari syndrome treated with recanalization.MethodsA total of 35 consecutive young patients (≤25 years of age) with primary Budd–Chiari syndrome treated with recanalization at our center were enrolled in this study between March 2011 and December 2014. Data on baseline information, etiology tests, therapeutic recanalization strategies, and follow-up were collected.ResultsThe most common clinical feature was ascites, present in 33 cases (94 %). Hepatic vein obstruction was present in 60 % (21/35) of patients, inferior vena cava obstruction in 3 % (1/35), and combined obstruction in 37 % (13/35). The most common risk factor for thrombosis was hyperhomocysteinemia (14/35, 40 %). Recanalization was technically successful in 32 of 35 patients (91 %), and clinically successful in 28 of these 32 patients (88 %). The cumulative 1- and 3-year primary patency rates were 75.2 and 54.3 %, respectively. The cumulative 1- and 3-year secondary patency rates were 89.3 and 89.3 %, respectively. The cumulative 1- and 3-year survival rates were 96.9 and 93.8 %, respectively.ConclusionIn this study, the most common type of lesion was hepatic vein obstruction, the most common thrombotic risk factor was hyperhomocysteinemia, and recanalization resulted in good mid-term outcomes in young Chinese patients with Budd–Chiari syndrome.

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

International Nuclear Information System (INIS)

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

2011-01-01

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

Congenital heart defects and extracardiac malformations.

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

2013-06-01

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

Anophthalmia-plus syndrome with unusual findings. A clinical report and review of the literature.

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Cayir, A; Tasdemir, S; Eroz, R; Yuce, I; Orbak, Z; Tatar, A

2013-01-01

We present a male child at 3 years old with Anophthalmia-Plus Syndrome (APS). He has asymmetry of the face and head, left choanal atresia, a sunken facial appearance, microphthalmia in the right eye, severe microphthalmia in the left eye, bilateral low-set ears, scarring from cleft palate surgery. Magnetic resonance imaging (MRI) sections revealed decreased right globe volume, an undeveloped left globe, decreased left optical nerve thickness, Chiari type 2 malformation, left choanal atresia and cleft palate. Echocardiography and abdominal ultrasonography were normal. The patient has a 45 dB conductive hearing loss in the left ear. Repeated thyroid function tests were evaluated as compatible with central hypothyroidism. We report a Fryns Anophthalmia-Plus Syndrome in a child with unusual findings including central hypothyroidism, chiari type 2 malformation, conductive hearing loss and developmental regression. Summary of the features reported in the present case and all 14 previous cases that might be defined as APS.

Activity patterns in malformed fetuses.

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Rayburn, W F; Barr, M

1982-04-15

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

Amplatzer vascular plugs in congenital cardiovascular malformations

International Nuclear Information System (INIS)

Barwad, Parag; Ramakrishnan, Sivasubramanian; Kothari, Shyam S; Saxena, Anita; Gupta, Saurabh K; Juneja, Rajnish; Gulati, Gurpreet Singh; Jagia, Priya; Sharma, Sanjiv

2013-01-01

Amplatzer vascular plugs (AVPs) are devices ideally suited to close medium-to-large vascular communications. There is limited published literature regarding the utility of AVPs in congenital cardiovascular malformations (CCVMs). To describe the use of AVPs in different CCVMs and to evaluate their safety and efficacy. All patients who required an AVP for the closure of CCVM were included in this retrospective review of our catheterization laboratory data. The efficacy and safety of AVPs are reported. A total of 39 AVPs were implanted in 31 patients. Thirteen (33%) were AVP type I and 23 (59%) were AVP type II. AVP type III were implanted in two patients and type IV in one patient. The major indications for their use included closure of pulmonary arteriovenous malformation (AVM) (n = 7), aortopulmonary collaterals (n = 7), closure of a patent Blalock-Taussig shunt (n = 5), systemic AVM (n = 5), coronary AVM (n = 4), patent ductus arteriosus (PDA) (n = 3), pulmonary artery aneurysms (n = 3), and venovenous collaterals (n = 2). Deployment of the AVP was done predominantly via the 5 – 7F Judkin's right coronary guide catheter. Overall 92% of the AVPs could be successfully deployed and resulted in occlusion of the target vessel in all cases, within 10 minutes. No procedure-related or access site complication occurred. AVPs are versatile, easy to use, and effective devices to occlude the vascular communications in a variety of settings. AVP II is especially useful in the closure of tubular structures with a high flow

Amplatzer vascular plugs in congenital cardiovascular malformations

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Parag Barwad

2013-01-01

Full Text Available Background: Amplatzer vascular plugs (AVPs are devices ideally suited to close medium-to-large vascular communications. There is limited published literature regarding the utility of AVPs in congenital cardiovascular malformations (CCVMs. Aims: To describe the use of AVPs in different CCVMs and to evaluate their safety and efficacy. Materials and Methods: All patients who required an AVP for the closure of CCVM were included in this retrospective review of our catheterization laboratory data. The efficacy and safety of AVPs are reported. Results: A total of 39 AVPs were implanted in 31 patients. Thirteen (33% were AVP type I and 23 (59% were AVP type II. AVP type III were implanted in two patients and type IV in one patient. The major indications for their use included closure of pulmonary arteriovenous malformation (AVM (n = 7, aortopulmonary collaterals (n = 7, closure of a patent Blalock-Taussig shunt (n = 5, systemic AVM (n = 5, coronary AVM (n = 4, patent ductus arteriosus (PDA (n = 3, pulmonary artery aneurysms (n = 3, and venovenous collaterals (n = 2. Deployment of the AVP was done predominantly via the 5 - 7F Judkin′s right coronary guide catheter. Overall 92% of the AVPs could be successfully deployed and resulted in occlusion of the target vessel in all cases, within 10 minutes. No procedure-related or access site complication occurred. Conclusions: AVPs are versatile, easy to use, and effective devices to occlude the vascular communications in a variety of settings. AVP II is especially useful in the closure of tubular structures with a high flow.

Tratamento da síndrome de Budd-Chiari por meio da colocação de tips e de "stent" venoso supra-hepático Transjugular intrahepatic portosystemic shunt (TIPS and suprahepatic venous stenting in the management of Budd-Chiari syndrome

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Jurandi A. Bettio

2002-11-01

Full Text Available OBJETIVOS: Descrever o uso do "shunt" intra-hepático portossistêmico (TIPS e do "stent" venoso supra-hepático no manejo da síndrome de Budd-Chiari, enfocando suas indicações, aspectos técnicos e benefícios do procedimento. MATERIAIS E MÉTODOS: De janeiro de 1999 a março de 2002, nove casos de síndrome de Budd-Chiari foram encaminhados ao Serviço de Hemodinâmica do Hospital São Lucas, Porto Alegre, RS. A obstrução venosa supra-hepática foi constatada em todos os casos por meio de ultra-sonografia com Doppler em cores. A criação de TIPS foi realizada entre o sistema venoso supra-hepático ou a veia cava inferior e a veia porta, posicionando-se a endoprótese entre as duas abordagens. Doppler em cores pós-procedimento foi efetuado em todos os pacientes em períodos seriados. RESULTADOS: Três casos foram tratados inicialmente com inserção de "stent" venoso por apresentarem estenose preponderante em veias supra-hepáticas. Em dois desses casos ocorreu trombose do "stent", sendo necessária colocação de TIPS. Os demais seis casos foram tratados primariamente com TIPS. Dos oito "shunts" criados, trombose da endoprótese foi constatada em três casos, resolvidas com limpeza dos trombos e dilatação com balão em um caso e inserção de novas próteses nos demais. Embolização com molas de colaterais venosas ectasiadas foi efetuada em um paciente. CONCLUSÕES: A colocação de TIPS constitui-se numa estratégia terapêutica segura e efetiva na síndrome de Budd-Chiari, promovendo uma significativa melhora clínica e hemodinâmica dos pacientes, evitando procedimentos mais invasivos e podendo, em casos sem cirrose estabelecida, servir de tratamento definitivo da hipertensão portal.OBJECTIVE: To evaluate the use of transjugular intrahepatic portosystemic shunt (TIPS and suprahepatic venous stenting in the management of Budd-Chiari syndrome, emphasizing the indications, technical aspects and the advantages of the procedure

Characteristics and treatment of cavernous malformations

International Nuclear Information System (INIS)

Takagi, Kenji; Ishida, Mitsuaki; Okabe, Hidetoshi; Nozaki, Kazuhiko

2013-01-01

Cavernous malformations are clusters of dilated sinusoidal channels with thin walls devoid of elastin and smooth muscle. They have no intervening brain tissue. They occur both in sporadic and familial forms. The genes responsible for cavernous malformations have been identified. Recent reports show that mutations of these responsible genes are involved not only in familial but also in sporadic forms. Germline and somatic mutations may occur before cavernous malformations develop (two-hit mechanism). Two patterns, with mulberry-like and hematoma-like appearances, are seen intraoperatively, and from histological findings, mulberry-like appearance may change into hematoma-like one by intralesional hemorrhage. Cavernous malformation treatments include open surgery and radiosurgery. Open surgery is usually chosen for the treatment of symptomatic hemorrhagic cavernous malformations because post-radiosurgical annual bleeding risks at the early phase seem to be higher than those of open surgery. If open surgery has a high risk because of lesion location, radiosurgery becomes an effective alternative treatment. Brainstem cavernous malformations have high annual bleeding and re-bleeding incidence, so if the lesion is accessible with low risk, open surgery is recommended. (author)

Cerebral malformations without antenatal diagnosis

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Girard, Nadine J. [Diagnostic Neuroradiology, Hopital Timone, Marseille (France)

2010-06-15

Cerebral malformations are usually described following the different steps in development. Disorders of neurulation (dysraphisms), or diverticulation (holoprosencephalies and posterior fossa cysts), and total commissural agenesis are usually diagnosed in utero. In contrast, disorders of histogenesis (proliferation-differentiation, migration, organization) are usually discovered in infants and children. The principal clinical symptoms that may be a clue to cerebral malformation include congenital hemiparesis, epilepsy and mental or psychomotor retardation. MRI is the imaging method of choice to assess cerebral malformations. (orig.)

A complex craniovertebral junction malformation in a patient with late onset glycogenosis 2

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Mariasofia Cotelli

2014-01-01

Full Text Available Glycogenosis II (GSDII is an autosomal recessive lysosomal storage disorder resulting from deficiency of acid alpha-glucosidase and subsequent lysosomal accumulation of glycogen in skeletal, cardiac and smooth muscles. The late-onset form is characterized by wide variability of the phenotypical spectrum. Clinical findings may include muscle weakness, respiratory insufficiency, vascular abnormalities, low bone mineral density and higher risk of developing osteoporosis. Craniovertebral junction (CVJ malformations have never been described so far. We here report on a GSDII 43-year-old woman who harbored the mutations IVS1-13T>G and c.2237G>A in the acid alpha-glucosidase gene. She recurrently suffered from headache, neck pain and dizziness. Brain MRI and CT scan showed the presence of a very rare complex CVJ malformation composed of basilar invagination, basiocciput hypoplasia, partial C1 assimilation, C1 posterior arch aplasia and C1 lateral mass hypoplasia and offset. Although we cannot rule out their coincidental occurrence, the rarity of multiple CVJ malformations in the general population as well as the well-known GSDII multisystem involvement should suggest to study the CVJ in the diagnostic process of GSDII patients in order to assess the CVJ malformation frequency in GSDII population and verify a possible relationship between these two conditions.

Imaging of the cloacal malformation

International Nuclear Information System (INIS)

Jaramillo, D.; Lebowitz, R.L.; Hendren, W.H.

1989-01-01

Sixty-two newborns with the cloacal malformation were evaluated to define variation in cloacal configuration, associated anomalies, and optimal approach to imaging. Cloacal malformations were classified according to level of urethrovaginal confluence (47 low, 15 high); level of rectal communication (47 vaginal, seven cloacal, eight other); and cloacal appearance (34 urethral, 28 vaginal, 10 transistional). Lower urinary abnormalities included reflux, ureteral ectopia, bladder diverticula, bladder duplication (five), and urachal remnants (five). Uterovaginal abnormalities included duplication and partial agenesis. Anomalies were common in the upper urinary tract, spine (sacral agenesis, 20), and bony pelvis (pubic diastasis, 10). Gastrointestinal, cardiovascular, neurologic, and limb (seven) malformations were seen. Fluoroscopically monitored opacification of the cloacal components and voiding cystourethrogram were essential. Although sonography of the malformation was of limited usefulness, MR imaging seemed to be useful for evaluation of the spinal cord and pelvic musculature

Large congenital cystic asdenomatous malformation of the lung in a newborn

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İlyas Yolbaş

2013-12-01

Full Text Available Congenital cystic adenomatous malformation (CCAM oflung is a rare form of congenital hamartomatous lesionsof the lung consisting of cysts filled with air. The generalclinic presentation of CCAM is dyspnea in newborns.CCAM may mimic congenital pneumonia or respiratorydistress syndrome. After the delivery, the newborn malewho had low Apgar score and severe respiratory distresswas intubated and admitted to neonatal intensive careunit. Patient was ventilated for 50 days and weaned fromthe mechanical ventilator at 50th day. Type II CCAM of thelung was diagnosed according to the chest radiographsand computed tomography scan signs. Although the surgeonssuggested lobectomy considering the patient’s notcompletely asymptomatic, family did not accept this operationdue to the risk of death. The patient was dischargedfrom the hospital until the next control.Key word: Congenital cystic adenomatous malformation of lunch, newborn, conservative treatment

Genetics Home Reference: cerebral cavernous malformation

Science.gov (United States)

... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke Educational Resources (7 links) Boston Children's Hospital: Cavernous Malformations Disease InfoSearch: Cerebral Cavernous Malformation ...

Fetal magnetic resonance imaging in prenatal diagnosis of central nervous system abnormalities

International Nuclear Information System (INIS)

Morioka, Takato; Hashiguchi, Kimiaki; Kawamura, Tadao; Mihara, Futoshi; Hikino, Shunji; Nagata, Hideaki; Iwaki, Toru; Sasaki, Tomio

2005-01-01

The diagnostic value of fetal magnetic resonance imaging (MRI), performed in 42 pregnant women whose fetuses had structural abnormalities of the central nervous system identified with transabdominal ultrasonography from 1995 through 2002, was analyzed retrospectively. Half-Fourier acquisition single-shot turbo spin-echo (HASTE) T 2 -weighted imaging clearly delineated the cerebrospinal fluid (CSF) space and the malformed brain and spinal cord and provided valuable information for the diagnosis of structural abnormalities related to the CSF space, such as spina bifida with Chiari type II malformation (7 cases), colpocephaly with agenesis of the corpus callosum (7 cases), holoprosencephaly (6 cases), porencephaly (2 cases), lissencephaly with hydrocephalus (2 cases), and middle fossa arachnoid cyst (1 case). However, some difficulty was encountered in the diagnosis of rare pathologic conditions that were not related to the CSF space, such as epignathus, multiple arteriovenous fistulae, trapped suboccipital meningocele, and Turner syndrome. We conclude that HASTE T 2 -weighted imaging, which provides useful diagnostic images in a reasonable time, is a useful adjunct to ultrasonography to confirm or exclude certain abnormalities related to the CSF space. (author)

Spinal dysraphism: a review of neuroradiological features with embryological correlations and proposal for a new classification

International Nuclear Information System (INIS)

Tortori-Donati, P.; Rossi, A.; Cama, A.

2000-01-01

Our purpose was to review the neuroradiological features of spinal dysraphism and to correlate them with clinical findings and up-to-date embryological theory. We also aimed to formulate a working classification which might prove useful in clinical practice. We reviewed series of 986 children referred to our Spina Bifida Centre in the past 24 years. There were 353 children with open spinal (OSD) and 633 with closed (skin-covered) spinal (CSD) dysraphism. By far the most common open abnormality was myelomeningocele, and all patients with OSD had a Chiari II malformation. CSD was categorised clinically, depending on the presence of a subcutaneous mass in the back. CSD with a mass mainly consisted of lipomas with dural defects and meningoceles, and accounted for 18.8 % of CSD. CSD without a mass were simple (tight filum terminale, intradural lipoma) or complex (split cord malformations, caudal regression). Our suggested classification is easy to use and to remember and takes into account clinical and MRI features; we have found it useful and reliable when making a preoperative neuroradiological diagnosis in clinical practice. (orig.)

Functional Connectivity and Genetic Profile of a “Double-Cortex”-Like Malformation

Science.gov (United States)

Sprugnoli, Giulia; Vatti, Giampaolo; Rossi, Simone; Cerase, Alfonso; Renieri, Alessandra; Mencarelli, Maria A.; Zara, Federico; Rossi, Alessandro; Santarnecchi, Emiliano

2018-01-01

Laminar heterotopia is a rare condition consisting in an extra layer of gray matter under properly migrated cortex; it configures an atypical presentation of periventricular nodular heterotopia (PNH) or a double cortex (DC) syndrome. We conducted an original functional MRI (fMRI) analysis in a drug-resistant epilepsy patient with “double-cortex”-like malformation to reveal her functional connectivity (FC) as well as a wide genetic analysis to identify possible genetic substrates. Heterotopias were segmented into region of interests (ROIs), whose voxel-wise FC was compared to that of (i) its normally migrated counterpart, (ii) its contralateral homologous, and (iii) those of 30 age-matched healthy controls. Extensive genetic analysis was conducted to screen cortical malformations-associated genes. Compared to healthy controls, both laminar heterotopias and the overlying cortex showed significant reduction of FC with the contralateral hemisphere. Two heterozygous variants of uncertain clinical significance were found, involving autosomal recessive disease-causing genes, FAT4 and COL18A1. This first FC analysis of a unique case of “double-cortex”-like malformation revealed a hemispheric connectivity segregation both in the laminar cortex as in the correctly migrated one, with a new pattern of genes’ mutations. Our study suggests the altered FC could have an electrophysiological and functional impact on large-scale brain networks, and the involvement of not yet identified genes in “double-cortex”-like malformation with a possible role of rare variants in recessive genes as pathogenic cofactors. PMID:29946244

Associated malformations among infants with anophthalmia and microphthalmia.

Science.gov (United States)

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

2012-03-01

Infants with anophthalmia and microphthalmia frequently have other associated congenital anomalies. The reported frequency and types of associated malformations vary among different studies. The purpose of this investigation was to assess the frequency and types of associated malformations among infants with anophthalmia and microphthalmia in a geographically well defined population from 1979 to 2004 of 346,831 consecutive births. Of the 87 infants with anophthalmia and microphthalmia born during this period (prevalence at birth, 2.5 per 10,000), 90% had associated malformations. Infants with associated malformation were divided into recognizable conditions (22 infants [25%] with chromosomal and 15 infants [17%] with nonchromosomal conditions), and nonrecognizable conditions (41 infants [47%] with multiple malformations). Trisomies 13 and 18 were the most frequent chromosomal abnormalities. Amniotic bands sequence, CHARGE syndrome, Meckel-Gruber syndrome, and VACTERL association were most often present in recognizable nonchromosomal conditions. Malformations in the musculoskeletal, cardiovascular, and central nervous systems were the most common other anomalies in infants with multiple malformations and nonrecognizable conditions. The frequency of associated malformations in infants with anophthalmia or microphthalmia emphasizes the need for a thorough investigation of these infants. Routine screening for other malformations-especially musculoskeletal, cardiac, and central nervous system anomalies-may need to be considered in infants with anophthalmia or microphthalmia, and referral of these infants for genetics evaluation and counseling seems warranted. Copyright © 2012 Wiley Periodicals, Inc.

Risk of major congenital malformations in relation to maternal overweight and obesity severity: cohort study of 1.2 million singletons.

Science.gov (United States)

Persson, Martina; Cnattingius, Sven; Villamor, Eduardo; Söderling, Jonas; Pasternak, Björn; Stephansson, Olof; Neovius, Martin

2017-06-14

Objective  To estimate the risks of major congenital malformations in the offspring of mothers who are underweight (body mass index (BMI) malformation, and subgroups of organ specific malformations diagnosed during the first year of life. Risk ratios were estimated using generalised linear models adjusted for maternal factors, sex of offspring, and birth year. Results  A total of 43 550 (3.5%) offspring had any major congenital malformation, and the most common subgroup was for congenital heart defects (n=20 074; 1.6%). Compared with offspring of normal weight mothers (risk of malformations 3.4%), the proportions and adjusted risk ratios of any major congenital malformation among the offspring of mothers with higher BMI were: overweight, 3.5% and 1.05 (95% confidence interval 1.02 to 1.07); obesity class I, 3.8% and 1.12 (1.08 to 1.15), obesity class II, 4.2% and 1.23 (1.17 to 1.30), and obesity class III, 4.7% and 1.37 (1.26 to 1.49). The risks of congenital heart defects, malformations of the nervous system, and limb defects also progressively increased with BMI from overweight to obesity class III. The largest organ specific relative risks related to maternal overweight and increasing obesity were observed for malformations of the nervous system. Malformations of the genital and digestive systems were also increased in offspring of obese mothers. Conclusions  Risks of any major congenital malformation and several subgroups of organ specific malformations progressively increased with maternal overweight and increasing severity of obesity. For women who are planning pregnancy, efforts should be encouraged to reduce adiposity in those with a BMI above the normal range. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Rare malformation of glans penis: arteriovenous malformation.

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Akin, Y; Sarac, M; Yucel, S

2013-01-01

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

Subdural hematoma from a cavernous malformation.

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Schmitt, Anne J; Mitha, Alim P; Germain, Rasha; Eschbacher, Jennifer; Spetzler, Robert F

2014-01-01

To present a case of a cavernous malformation presenting with a subdural hematoma. A 27-year-old woman was admitted with progressively worsening headache, vomiting, weakness, and word-finding difficulties 1 week after she was discharged from an outside hospital, where she was managed conservatively for a presumed traumatic subdural hematoma. Computed tomography revealed an enlarging subacute left hemispheric subdural hematoma for which she underwent drill craniostomy. Postprocedural magnetic resonance imaging showed a posterior left temporal lobe mass consistent with a cavernous malformation juxtaposed with the subdural hematoma. Craniotomy for resection of the lesion was performed. She had an uncomplicated postoperative course and experienced a good recovery. The signs and symptoms, diagnostic imaging, and intraoperative findings suggest that the subdural hematoma was caused by extralesional hemorrhage of the cavernous malformation, which is a rare finding associated with these malformations. The clinical course, radiologic, and intraoperative findings suggest that the subdural hemorrhage was caused by extralesional hemorrhage of the cavernous malformation. Copyright © 2014 Elsevier Inc. All rights reserved.

Pattern and outcome of gross congenital malformations at birth ...

African Journals Online (AJOL)

Background: Congenital malformation(s) do occur in newborns and are thought to be often responsible for a significant proportion of perinatal morbidity and mortality worldwide. Objective: This prospective study was designed to determine the pattern and outcome of congenital malformation(s) among newborn deliveries ...

Study of placenta of children born with congenital malformations.

Science.gov (United States)

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

2003-01-01

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

Brain Malformations

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

Expression of the Components of the Renin-Angiotensin System in Venous Malformation

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Sam eSiljee

2016-05-01

Full Text Available Background Venous malformation (VM is the most common form of vascular malformation, consisting of a network of thin-walled ectatic venous channels with deficient or absent media. This study investigated the expression of the components of the renin-angiotensin system (RAS, namely (prorenin receptor (PRR, angiotensin converting enzyme (ACE, angiotensin II receptor 1 (ATIIR1 and angiotensin II receptor 2 (AIITR2 in subcutaneous (SC and intramuscular (IM VM. Materials and Methods SC (n=7 and IM (n=7 VM were analyzed for the expression of PRR, ACE, ATIIR1, and ATIIR2 using 3,3-diaminobenzidine (DAB and immunofluorescent (IF immunohistochemical (IHC staining and NanoString gene expression analysis. Results IHC staining showed expression of PRR, ACE, ATIIR1 and faint expression of ATIIR2 in the endothelium of SC and IM VM. Furthermore, ATIIR2 was expressed by cells away from the endothelium in both SC and IM VM lesions examined. NanoString analysis demonstrated the presence of PRR, ACE and ATIIR1 but not ATIIR2.Conclusions The presence of PRR, ACE, ATIIR1 and potentially ATIIR2, in both SC and IM VM suggests a role for the RAS in the biology of VM. This novel finding may lead to a mechanism-based therapy for VM.

Delamination technique together with longitudinal incisions for treatment of Chiari I/syringomyelia complex: a prospective clinical study

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Savas Yildiray

2009-06-01

Full Text Available Abstract Background Treatment modalities in Chiari malformation type 1(CMI accompanied by syringomyelia have not yet been standardized. Pathologies such as a small posterior fossa and thickened dura mater have been discussed previously. Various techniques have been explored to enlarge the foramen magnum and to expand the dura. The aim of this clinical study was to explore a new technique of excision of the external dura accompanied by widening the cisterna magna and making longitudinal incisions in the internal dura, without disturbing the arachnoid. Methods Ten patients with CMI and syringomyelia, operated between 2004 and 2006, formed this prospective series. All cases underwent foramen magnum decompression of 3 × 3 cm area with C1–C2 (partial laminectomy, resection of foramen magnum fibrous band, excision of external dura, delamination and widening of internal dura with longitudinal incisions. Results Patients were aged between 25 and 58 years and occipital headache was the most common complaint. The mean duration of preoperative symptoms was 4 years and the follow-up time was 25 months. Clinical progression was halted for all patients; eight patients completely recovered and two reported no change. In one patient, there was a transient cerebrospinal fluid (CSF fistula that was treated with tissue adhesive. While syringomyelia persisted radiologically with radiological stability in five patients; for three patients the syringomyelic cavity decreased in size, and for the remaining two it regressed completely. Conclusion Removal of the fibrous band and the outer dural layer, at level of foramen magnum, together with the incision of inner dural layer appears to be good technique in adult CMI patients. The advantages are short operation time, no need for duraplasty, sufficient posterior fossa decompression, absence of CSF fistulas as a result of extra arachnoidal surgery, and short duration of hospitalization. Hence this surgical technique has

Human malformations induced by environmental noxae

International Nuclear Information System (INIS)

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

1980-01-01

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

Fever in pregnancy and the risk of congenital malformations

DEFF Research Database (Denmark)

Sass, L.; Urhoj, S. K.; Kjærgaard, J.

2017-01-01

fetal malformations or death. Fever during pregnancy, especially during embryogenesis, has also been associated with congenital malformations in human offspring. The purpose of this large cohort study of clinically recognized pregnancies was to investigate whether fever during first trimester...... was associated with an increased risk of congenital malformations in the offspring. Methods: The Danish National Birth Cohort is a population-based cohort of 100,418 pregnant women and their offspring recruited in 1996 to 2002. Information on fever during pregnancy was collected prospectively by means of two....... Congenital malformations within the first three and a half years of life were categorized according to EUROCAT's classification criteria. Logistic regression models were used to estimate the associations between fever in first trimester and overall congenital malformations and congenital malformations...

Association of HTLV-I with Arnold Chiari syndrome and syringomyelia

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Graça Maria de Castro Viana

Full Text Available HTLV-I is associated with a broad spectrum of manifestations, including tropical spastic paraparesis and adult T-cell leukemia/lymphoma. Arnold Chiari syndrome is a condition characterized by herniation of the cerebellar tonsils through the foramen magnum. This condition should be suspected in all patients with headache and impaired motor coordination. Syringomyelia is a developmental anomaly that leads to the formation of an intramedullary cavity. Its clinical presentation is classically characterized by syringomyelic dissociation of sensation, with suspended distribution in the proximal portion of the trunk and upper limbs and preservation in other regions. We report here a case of association of the three diseases, which is rare in clinical practice, illustrating the difficulty in the diagnosis and therapeutic management of these conditions.

Genetics Home Reference: megalencephaly-capillary malformation syndrome

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... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke: Megalencephaly Educational Resources (5 links) Boston Children's Hospital: Capillary Malformation Cincinnati Children's Hospital: Capillary Malformations ...

Arteriovenous Malformations

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

Spontaneous ileal perforation complicating low anorectal malformation

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TiJesuni Olatunji

2015-01-01

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

Congenital malformations of the skull and meninges.

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Kanev, Paul M

2007-02-01

The surgery and management of children who have congenital malformations of the skull and meninges require multidisciplinary care and long-term follow-up by multiple specialists in birth defects. The high definition of three-dimensional CT and MRI allows precise surgery planning of reconstruction and management of associated malformations. The reconstruction of meningoencephaloceles and craniosynostosis are challenging procedures that transform the child's appearance. The embryology, clinical presentation, and surgical management of these malformations are reviewed.

CT in three cases of syringomyelia

International Nuclear Information System (INIS)

Ugawa, Yoshikazu; Sakuta, Manabu; Yagishita, Akira; Inoue, Kiyoharu.

1983-01-01

We presented the results of our experience with metrizamide computed tomographic myelography (MCTM) and myelography in three cases of syringomyelia. In case 1, MCTM revealed Chiari malformation, even though this malformation was not clear in the myelography. In case 3, Chiari malformation was apparent in MCTM and in the myelography. In case 1, CT of the spinal cord without enhancement (plain CT) showed a syrinx in the cervical spinal cord, and MCTM made the syrinx clearer with enhancement. MCTM also demonstrated a cavity at the levels of Th 6 and L 1 of the vertebra. In case 2, a syrinx was disclosed in MCTM, in spite of normal myelography. In case 3, myelography demonstrated a spinal cord swelling. MCTM made a syrinx less clear than plain CT. Not only MCTM but also plain CT is an excellent method for the recognition of syringomyelia. The non-invasive plain CT is the first choice of the examinations in cases with syrinogomyelia, because MCTM may make a syrinx obscure. CT and MCTM have to be performed at many levels of the spinal cord in case with syringomyelia. CT or MCTM may demonstrate a syrinx or a cavity at the levels of the spinal cord, where no syrinx is suspected to exist by clinical features, as well as at the levels appearing normal in the myelography. (author)

Budd-Chiari Syndrome: Two Cases with Different Courses

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Shinjiro Inomata

2008-08-01

Full Text Available We report two cases of Budd-Chiari syndrome. Case 1: A 57-year-old man presented with leg edema and esophageal varices. Cavography showed obstruction of the inferior vena cava with antiphospholipid syndrome. Further, the patient showed positive serology for hepatitis C virus and consumed large quantities of alcohol. Percutaneous transluminal angioplasty was performed on this patient and anticoagulants administered; leg edema and esophageal varices were ameliorated although liver biopsy showed cirrhosis without evident congestion. More than 9 months since the diagnosis, restenosis of the inferior vena cava has not occurred. Case 2: A 73-year-old woman presented abdominal pain but no edema or varices. Cavography showed membranous obstruction of the inferior vena cava which required no therapy. Manifestation of portal hypertension was not present and liver function was maintained although liver biopsy showed obvious congestion. These cases showed untypical features against histopathology, and careful observation will be required for emergence of hepatocellular carcinoma.

Facial vascular malformations in children

International Nuclear Information System (INIS)

Brunelle, F.O.; Lallemand, D.; Chaumont, P.; Teillac, D.; Manach, Y.

1988-01-01

The authors present their experience with conventional and digital angiography of vascular malformations of the head and neck in children. 22 hemangioendotheliomas, 8 venous angiomas, and 3 arteriovenous fistula were studied. 22 patients were embolised. DSA offers many advantages during the diagnostic as well as during the therapeutic phase of angiography. Embolization appears to have a major role in treatment of such vascular malformations. (orig.)

Sincipital Encephaloceles: A Study of Associated Brain Malformations

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Shashidhar Vedavyas Achar

2016-01-01

Full Text Available Objective: The aim of this study was to evaluate the associated intracranial malformations in patients with sincipital encephaloceles. Materials and Methods: A hospital-based cross-sectional study was conducted over 8 years from June 2007 to May 2015 on 28 patients. The patients were evaluated by either computed tomography or magnetic resonance imaging whichever was feasible. Encephaloceles were described with respect to their types, contents, and extensions. A note was made on the associated malformations with sincipital encephaloceles. Results: Fifty percent of the patients presented before the age of 3 years and both the sexes were affected equally. Nasofrontal encephalocele was the most common type seen in 13 patients (46.4%, and corpus callosal agenesis (12 patients was the most common associated malformation. Other malformations noted were arachnoid cyst (10 patients, hydrocephalus (7 patients, and agyria-pachygyria complex (2 patients. Conclusion: Capital Brain malformations are frequently encountered in children with sincipital encephaloceles. Detail radiological evaluation is necessary to plan treatment and also to prognosticate such rare malformations.

Prognostic factors of congenital diaphragmatic hernia accompanied by cardiovascular malformation.

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Takahashi, Shigehiro; Sago, Haruhiko; Kanamori, Yutaka; Hayakawa, Masahiro; Okuyama, Hiroomi; Inamura, Noboru; Fujino, Yuji; Usui, Noriaki; Taguchi, Tomoaki

2013-08-01

Congenital diaphragmatic hernia is associated with cardiovascular malformation. Many prognostic factors have been identified for isolated congenital diaphragmatic hernia; however, reports of concurrent congenital diaphragmatic hernia and cardiovascular malformation in infants are limited. This study evaluated congenital diaphragmatic hernia associated with cardiovascular malformation in infants. Factors associated with prognosis for patients were also identified. This retrospective cohort study was based on a Japanese survey of congenital diaphragmatic hernia patients between 2006 and 2010. Frequency and outcome of cardiovascular malformation among infants with congenital diaphragmatic hernia were examined. Severity of congenital diaphragmatic hernia and cardiovascular malformation were compared as predictors of mortality and morbidity. Cardiovascular malformation was identified in 76 (12.3%) of 614 infants with congenital diaphragmatic hernia. Mild cardiovascular malformation was detected in 19 (33.9%) and severe cardiovascular malformation in 37 (66.1%). Their overall survival rate at discharge was 46.4%, and the survival rate without morbidity was 23.2%. Mortality and morbidity at discharge were more strongly associated with severity of cardiovascular malformation (adjusted OR 7.69, 95%CI 1.96-30.27; adjusted OR 7.93, 95%CI 1.76-35.79, respectively) than with severity of congenital diaphragmatic hernia. The prognosis for infants with both congenital diaphragmatic hernia and cardiovascular malformation remains poor. Severity of cardiovascular malformation is a more important predictive factor for mortality and morbidity than severity of congenital diaphragmatic hernia. © 2013 The Authors. Pediatrics International © 2013 Japan Pediatric Society.

Angiographic findings of congenital vascular malformation in soft tissue

International Nuclear Information System (INIS)

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

1994-01-01

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

MR imaging of anorectal malformations and associated anomalies

International Nuclear Information System (INIS)

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

1998-01-01

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

Endometriosis and uterine malformations: infertility may increase severity of endometriosis.

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Boujenah, Jeremy; Salakos, Eleonora; Pinto, Mélodie; Shore, Joanna; Sifer, Christophe; Poncelet, Christophe; Bricou, Alexandre

2017-06-01

The aim of our study was to compare the stage and severity of endometriosis in fertile and infertile women with congenital uterine malformations. We performed an observational study from September 2007 to December 2015 in a tertiary care university hospital and assisted reproductive technology center. A total of 52 patients with surgically proven uterine malformations were included. We compared 41 infertile patients with uterine malformations with 11 fertile patients with uterine malformation. The main outcome was the stage, score and type of endometriosis in regard to infertility and class of uterine malformation. The rate of endometriosis did not differ between the two groups (43.9 vs. 36.4%). The mean revised American Fertility Society score was higher in infertile patients with uterine malformations (19.02 vs. 6, p endometriosis (43.9 vs. 37.5%). Endometrioma and deep infiltrating endometriosis were associated with uterine malformations in infertile women, respectively 14.6 and 0%. No difference in the characteristics of endometriosis was found regarding the class of malformation. The association of uterine malformations and infertility may increase the severity of endometriosis and raise the issue of their diagnosis and management. © 2016 Nordic Federation of Societies of Obstetrics and Gynecology.

Malformation of the eighth cranial nerve in children.

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de Paula-Vernetta, Carlos; Muñoz-Fernández, Noelia; Mas-Estellés, Fernando; Guzmán-Calvete, Abel; Cavallé-Garrido, Laura; Morera-Pérez, Constantino

2016-01-01

Prevalence of congenital sensorineural hearing loss (SNHL) is approximately 1.5-6 in every 1,000 newborns. Dysfunction of the auditory nerve (auditory neuropathy) may be involved in up to 1%-10% of cases; hearing losses because of vestibulocochlear nerve (VCN) aplasia are less frequent. The objectives of this study were to describe clinical manifestations, hearing thresholds and aetiology of children with SNHL and VCN aplasia. We present 34 children (mean age 20 months) with auditory nerve malformation and profound HL taken from a sample of 385 children implanted in a 10-year period. We studied demographic characteristics, hearing, genetics, risk factors and associated malformations (Casselman's and Sennaroglu's classifications). Data were processed using a bivariate descriptive statistical analysis (P<.05). Of all the cases, 58.8% were bilateral (IIa/IIa and I/I were the most common). Of the unilateral cases, IIb was the most frequent. Auditory screening showed a sensitivity of 77.4%. A relationship among bilateral cases and systemic pathology was observed. We found a statistically significant difference when comparing hearing loss impairment and patients with different types of aplasia as defined by Casselman's classification. Computed tomography (CT) scan yielded a sensitivity of 46.3% and a specificity of 85.7%. However, magnetic resonance imaging (MRI) was the most sensitive imaging test. Ten percent of the children in a cochlear implant study had aplasia or hypoplasia of the auditory nerve. The degree of auditory loss was directly related to the different types of aplasia (Casselman's classification) Although CT scan and MRI are complementary, the MRI is the test of choice for detecting auditory nerve malformation. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. All rights reserved.

Transcatheter arterial embolization for congenital renal arteriovenous malformation

International Nuclear Information System (INIS)

Zhou Jun; Hu Tingyang; Yuan Jianhua; Yu Wenqiang

2008-01-01

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

Maternal smoking in pregnancy and risk for congenital malformations

DEFF Research Database (Denmark)

Leite, Mimmi; Albieri, Vanna; Kjaer, Susanne K.

2014-01-01

and registered in the Danish Medical Birth Register containing detailed information on smoking during pregnancy and congenital malformations. METHODS: Associations [odds ratios (OR) with 95% CI] between maternal smoking and risk for various groups of congenital malformations, investigated using the generalized.......e. when two or more malformations are diagnosed in a child) (odds ratio 1.06, 95% confidence interval 1.01-1.10) and various main groups of congenital malformations including the cardiovascular system (odds ratio 1.13, 95% confidence interval 1.07-1.19), the respiratory system (odds ratio 1.25, 95......% confidence interval 1.11-1.41), the digestive system (odds ratio 1.15, 95% confidence interval 1.07-1.24) and oral clefts (odds ratio 1.29, 95% confidence interval 1.14-1.46), as well as for some specific congenital malformations including cardiac septal defects, malformations of the pulmonary and tricuspid...

Update on neuroimaging phenotypes of mid-hindbrain malformations

Energy Technology Data Exchange (ETDEWEB)

Jissendi-Tchofo, Patrice [University Hospital of Lille (CHRU), Department of Neuroradiology, MRI 3T Research, Plateforme Imagerie du vivant, IMPRT-IFR 114, Lille-Cedex (France); CHU Saint-Pierre, Radiology Department, Pediatric Neuroradiology Section, Brussels (Belgium); Severino, Mariasavina [Istituto Giannina Gaslini, Neuroradiology Unit, Genoa (Italy); Nguema-Edzang, Beatrice; Toure, Cisse; Soto Ares, Gustavo [University Hospital of Lille (CHRU), Department of Neuroradiology, MRI 3T Research, Plateforme Imagerie du vivant, IMPRT-IFR 114, Lille-Cedex (France); Barkovich, Anthony James [University of California, Neuroradiology Section, Department of Radiology and Biomedical Imaging, San Francisco, CA (United States)

2014-10-23

Neuroimaging techniques including structural magnetic resonance imaging (MRI) and functional positron emission tomography (PET) are useful in categorizing various midbrain-hindbrain (MHB) malformations, both in allowing diagnosis and in helping to understand the developmental processes that were disturbed. Brain imaging phenotypes of numerous malformations are characteristic features that help in guiding the genetic testing in case of direct neuroimaging-genotype correlation or, at least, to differentiate among MHB malformations entities. The present review aims to provide the reader with an update of the use of neuroimaging applications in the fine analysis of MHB malformations, using a comprehensive, recently proposed developmental and genetic classification. We have performed an extensive systematic review of the literature, from the embryology main steps of MHB development through the malformations entities, with regard to their molecular and genetic basis, conventional MRI features, and other neuroimaging characteristics. We discuss disorders in which imaging features are distinctive and how these features reflect the structural and functional impairment of the brain. Recognition of specific MRI phenotypes, including advanced imaging features, is useful to recognize the MHB malformation entities, to suggest genetic investigations, and, eventually, to monitor the disease outcome after supportive therapies. (orig.)

Congenital malformations of the external and middle ear

International Nuclear Information System (INIS)

Koesling, S.; Omenzetter, M.; Bartel-Friedrich, S.

2009-01-01

With the focus on imaging, this paper gives a summarized view of the present knowledge on fields, which are necessary to know for a profound understanding of congenital malformations of the external and middle ear. Typical and less typical combinations of malformed parts of the ear can be derived from the embryogenesis. Clinical signs and audiometric findings lead to diagnosis in congenital aural atresia. Isolated middle ear malformations can be clinically mixed up especially with otosclerosis and tympanosclerosis. Imaging is needed for exact morphological information. In malformations of the external and middle ear, CT is the imaging modality of choice. Requirements on CT-technique as well as radiological findings including classification and pre-surgical rating are described. Morphological CT-correlates of congenital malformations and their differential diagnoses are enlisted and illustrated. The impact of CT-results on therapy is explained and actual therapeutic concepts are briefly presented

Anomalous facial nerve canal with cochlear malformations.

Science.gov (United States)

Romo, L V; Curtin, H D

2001-05-01

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

Clinical review of inner ear malformation

International Nuclear Information System (INIS)

Kokai, Hiromi; Oohashi, Masami; Ishikawa, Kazuo; Harada, Kouji; Hiratsuka, Hitoshi; Ogasawara, Makoto; Miyashita, Souji; Terayama, Yoshihiko

2003-01-01

We had 126 patients with inner ear malformation diagnosed with temporal bone computed tomography (CT) scans at Azabu Triology Hospital between 1996 and 2002. We classified cases of inner ear malformation according to Jackler et al. The incidence of inner ear malformation in our series was as follows; labyrinthine anomalies 61% (isolated lateral semicircular canal dysplasia 56%, compound semicircular canal dysplasia 4%, semicircular canal aplasia 1%), cochlear anomalies 24%, enlargement of the vestibular aqueduct 12%, narrow internal auditory canal 2%, complete labyrinthine aplasia 1%, enlargement of the cochlear aqueduct 0%. The most frequent anomaly was isolated lateral semicircular canal dysplasia. We did not detect any significant clinical features in this anomaly. There were 2 patients with cochlear anomalies who had past histories of meningitis. Some patients with enlargement of the vestibular aqueduct had frequent attacks of fluctuating hearing. Clinically it is important to detect patients with inner ear malformation such as cochlear anomalies and enlargement of the vestibular aqueduct usually accompanied by congenital sensorineural hearing loss. For patients with congenital sensorineural hearing loss, we recommend temporal bone CT scan. (author)

Congenital Vascular Malformation

Science.gov (United States)

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

Concurrent split cord malformation and teratoma: dysembryology, presentation, and treatment.

Science.gov (United States)

Babu, Ranjith; Reynolds, Renee; Moreno, Jessica R; Cummings, Thomas J; Bagley, Carlos A

2014-02-01

Split cord malformation (SCM) is a rare form of spinal dysraphism in which the spinal cord is divided in the sagittal plane, forming a double neural tube. In addition to being associated with a variety of malformations, SCM may occur with spinal cord tumors, with only exceptional cases involving teratomas. As only eight patients with a teratoma associated with SCM have been reported, their presentation characteristics and treatment are currently unclear. We review the literature of all patients with SCM with concurrent spinal teratoma, discuss the potential dysembryology, and report the first case of SCM with concurrent spinal teratoma in an elderly patient. The mean age of those with concurrent SCM and teratomas was 39.4 years, with 55.6% occurring in females. The lumbar spine was the most frequent location for teratomas (66.7%), with the Type II malformation more commonly occurring with these tumors (75%). The duration of symptoms varied widely, ranging from 1 month to 5 years, with the average duration being nearly 2 years. Back pain (87.5%) and lower extremity weakness (75%) were the most common presenting symptoms. As SCM may be associated with progressive neurological deterioration and teratomas can contain immature or malignant components, surgery should be attempted with the goal of gross total resection. Nonetheless, in patients with a concurrent tumor and spinal dysraphism, spinal teratomas should be considered in the differential diagnosis. Gross total resection of these lesions may be safely achieved even in the presence of SCM using intraoperative electrophysiologic monitoring. Copyright © 2013 Elsevier Ltd. All rights reserved.

Interventional treatment of pulmonary arteriovenous malformations

DEFF Research Database (Denmark)

Andersen, Poul Erik; Kjeldsen, Anette Drøhse

2010-01-01

Pulmonary arteriovenous malformations (PAVM) are congenital vascular communications in the lungs. They act as right to left shunts so that the blood running through these malformations is not oxygenated or filtered. These patients are typically hypoxaemic with exercise intolerance and are at high...... risk of paradoxical emboli to the brain and other organs. These malformations are most commonly seen in hereditary haemorrhagic telangiectasia (HHT) (Mb. Osler-Weber-Rendu syndrome). Nowadays, the generally accepted treatment strategy of first choice is embolization of the afferent arteries...... the functional level. Embolization is a well-established method of treating PAVM, with a significant effect on oxygenation of the blood. Screening for PAVM in patients at risk is recommended, especially in patients with HHT....

Eye malformations in Cameroonian children: a clinical survey

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Eballé AO

2012-10-01

Full Text Available André Omgbwa Eballé,1,2 Augustin Ellong,3 Godefroy Koki,3 Ngoune Chantal Nanfack,3 Viola Andin Dohvoma,3 Côme Ebana Mvogo2,31Yaoundé Gynaecology, Obstetrics and Pediatrics Hospital, Yaoundé, Cameroon; 2Faculty of Medicine and Pharmaceutical Sciences, University of Douala, Cameroon; 3Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, CameroonSummary: The aim of this work was to describe the clinical aspects of eye malformations observed at the ophthalmology unit of the Yaoundé Gynaecology, Obstetrics and Pediatrics Hospital.Patients and methods: We carried out a retrospective study of all malformations of the eye and its adnexae observed among children aged 0–5 years who were seen at the ophthalmology unit from January 2003 to December 2009.Results: Out of the 2254 children who were examined, 150 (6.65% presented eye malformations. The mean age was 14.40 ± 4 months. Eye malformations were diagnosed in 71.66% of cases during the first year of life. The most frequent malformations were congenital lacrimal duct obstruction (66.66%, congenital cataract (10.9%, congenital glaucoma (10.9%, microphthalmos (5.03%, and congenital ptosis (3.77%.Conclusion: Eye malformations among children can lead to visual impairment and are a cause for discomfort to children and parents. Therefore, systematic postnatal screening is recommended to enable early management.Keywords: malformations, ophthalmology, child, Cameroon

Ethanol sclerotherapy of peripheral venous malformations

Energy Technology Data Exchange (ETDEWEB)

Rimon, U. E-mail: rimonu@sheba.health.gov.il; Garniek, A.; Galili, Y.; Golan, G.; Bensaid, P.; Morag, B

2004-12-01

Background: venous malformations are congenital lesions that can cause pain, decreased range of movement, compression on adjacent structures, bleeding, consumptive coagulopathy and cosmetic deformity. Sclerotherapy alone or combined with surgical excision is the accepted treatment in symptomatic malformations after failed treatment attempts with tailored compression garments. Objectives: to report our experience with percutaneous sclerotherapy of peripheral venous malformations with ethanol 96%. Patients and methods: 41 sclerotherapy sessions were performed on 21 patients, aged 4-46 years, 15 females and 6 males. Fourteen patients were treated for painful extremity lesions, while five others with face and neck lesions and two with giant chest malformations had treatment for esthetic reasons. All patients had a pre-procedure magnetic resonance imaging (MRI) study. In all patients, 96% ethanol was used as the sclerosant by direct injection using general anesthesia. A minimum of 1-year clinical follow-up was performed. Follow-up imaging studies were performed if clinically indicated. Results: 17 patients showed complete or partial symptomatic improvement after one to nine therapeutic sessions. Four patients with lower extremity lesions continue to suffer from pain and they are considered as a treatment failure. Complications were encountered in five patients, including acute pulmonary hypertension with cardiovascular collapse, pulmonary embolus, skin ulcers (two) and skin blisters. All patients fully recovered. Conclusion: sclerotherapy with 96% ethanol for venous malformations was found to be effective for symptomatic improvement, but serious complications can occur.

Ethanol sclerotherapy of peripheral venous malformations

International Nuclear Information System (INIS)

Rimon, U.; Garniek, A.; Galili, Y.; Golan, G.; Bensaid, P.; Morag, B.

2004-01-01

Background: venous malformations are congenital lesions that can cause pain, decreased range of movement, compression on adjacent structures, bleeding, consumptive coagulopathy and cosmetic deformity. Sclerotherapy alone or combined with surgical excision is the accepted treatment in symptomatic malformations after failed treatment attempts with tailored compression garments. Objectives: to report our experience with percutaneous sclerotherapy of peripheral venous malformations with ethanol 96%. Patients and methods: 41 sclerotherapy sessions were performed on 21 patients, aged 4-46 years, 15 females and 6 males. Fourteen patients were treated for painful extremity lesions, while five others with face and neck lesions and two with giant chest malformations had treatment for esthetic reasons. All patients had a pre-procedure magnetic resonance imaging (MRI) study. In all patients, 96% ethanol was used as the sclerosant by direct injection using general anesthesia. A minimum of 1-year clinical follow-up was performed. Follow-up imaging studies were performed if clinically indicated. Results: 17 patients showed complete or partial symptomatic improvement after one to nine therapeutic sessions. Four patients with lower extremity lesions continue to suffer from pain and they are considered as a treatment failure. Complications were encountered in five patients, including acute pulmonary hypertension with cardiovascular collapse, pulmonary embolus, skin ulcers (two) and skin blisters. All patients fully recovered. Conclusion: sclerotherapy with 96% ethanol for venous malformations was found to be effective for symptomatic improvement, but serious complications can occur

Magnetic resonance imaging (MRI) of congenital cardiovascular malformations

International Nuclear Information System (INIS)

Sakakibara, Makoto; Kobayashi, Shirou; Imai, Hitoshi; Watanabe, Shigeru; Masuda, Yoshiaki; Inagaki, Yoshiaki; Morita, Huminori; Uematsu, Sadao; Arimizu, Noboru

1986-01-01

In order to determine the value of MRI in diagnosing congenital cardiovascular malformations, MR Images were obtained in 25 adult patients with congenital cardiovascular malformations. Gated MRI detected all of 13 atrial septal defects, and all of 4 ventricular septal defects, but ungated MRI detected none of 3 atrial septal defects. Other congenital cardiovascular malformations (2 with Ebstein's disease, 1 with Fallot's pentalogy, and 1 with Pulmonary stenosis) were well visualized. Vascular malformations (1 with Patent ducts arteriosus, 1 with Supravalvelar aortic stenosis, 1 with Coarctation of Aorta, 1 with Right Aortic Arch) were well visualized in all of 7 patients by ungated MRI. MRI was a valuable noninvasive method of diagnosing congenital heart disease. (author)

Arteriovenous malformation of face

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Ashok Kumar

2017-01-01

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

The presentation and management of complex female genital malformations.

Science.gov (United States)

Acién, Pedro; Acién, Maribel

2016-01-01

Common uterine anomalies are important owing to their impact on fertility, and complex mesonephric anomalies and certain Müllerian malformations are particularly important because they cause serious clinical symptoms and affect woman's quality of life, in addition to creating fertility problems. In these cases of complex female genital tract malformations, a correct diagnosis is essential to avoid inappropriate and/or unnecessary surgery. Therefore, acquiring and applying the appropriate embryological knowledge, management and therapy is a challenge for gynaecologists. Here, we considered complex malformations to be obstructive anomalies and/or those associated with cloacal and urogenital sinus anomalies, urinary and/or extragenital anomalies, or other clinical implications or symptoms creating a difficult differential diagnosis. A diligent and comprehensive search of PubMed and Scopus was performed for all studies published from 1 January 2011 to 15 April 2015 (then updated up to September 2015) using the following search terms: 'management' in combination with either 'female genital malformations' or 'female genital tract anomalies' or 'Müllerian anomalies'. The MeSH terms 'renal agenesis', 'hydrocolpos', 'obstructed hemivagina' 'cervicovaginal agenesis or atresia', 'vaginal agenesis or atresia', 'Herlyn-Werner-Wunderlich syndrome', 'uterine duplication' and 'cloacal anomalies' were also used to compile a list of all publications containing these terms since 2011. The basic embryological considerations for understanding female genitourinary malformations were also revealed. Based on our experience and the updated literature review, we studied the definition and classification of the complex malformations, and we analysed the clinical presentation and different therapeutic strategies for each anomaly, including the embryological and clinical classification of female genitourinary malformations. From 755 search retrieved references, 230 articles were analysed and

Arteriovenous malformation of the mandible

International Nuclear Information System (INIS)

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

1995-01-01

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

Sclerotherapy for lymphatic malformations in children: a scoping review.

Science.gov (United States)

Churchill, Paige; Otal, Damanjot; Pemberton, Julia; Ali, Abdullah; Flageole, Helene; Walton, J Mark

2011-05-01

This scoping review assesses the literature and summarizes the current evidence on sclerotherapy for the treatment of lymphatic malformations in pediatric patients. A comprehensive search of published and unpublished literature was conducted using multiple databases. Title, abstract, and full-text screening was conducted by 2 independent clinicians. All discrepancies were resolved during consensus meetings. A total of 182 articles were retrieved. Forty-four articles were removed as duplicates, and 11 articles were added after reviewing prominent studies. After full-text abstraction, 44 articles and 2 conference proceedings (N = 882 patients) were included in the final results. Twelve articles were classified as level II and 34 articles as level IV evidence. Picibanil (OK-432) was the primary agent used in most included studies. Postinjection symptoms with OK-432 were primarily fever, swelling, and erythema at the site. Life-threatening complications were uncommon and involved postinjection swelling of cervical lesions causing airway compromise. The literature regarding sclerotherapy for lymphatic malformations is of a low level of evidence and suffers from a lack of standardization. Randomized clinical trials focused on OK-432, bleomycin, or alcoholic solution of zein; standardized dosing protocols; and consistent and reliable outcome reporting will be necessary for further development of treatment guidelines. Copyright © 2011 Elsevier Inc. All rights reserved.

MR findings of congenital anorectal malformation

Energy Technology Data Exchange (ETDEWEB)

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

1995-05-15

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

MR findings of congenital anorectal malformation

International Nuclear Information System (INIS)

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

1995-01-01

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

A case of pancreatic AV malformation in an elderly man.

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

2018-06-01

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

Congenital vascular malformations in scintigraphic evaluation

International Nuclear Information System (INIS)

Pilecki, Stanisław; Gierach, Marcin; Gierach, Joanna; Świętaszczyk, Cyprian; Junik, Roman; Lasek, Władysław

2014-01-01

Congenital vascular malformations are tumour-like, non-neoplastic lesions caused by disorders of vascular tissue morphogenesis. They are characterised by a normal cell replacement cycle throughout all growth phases and do not undergo spontaneous involution. Here we present a scintigraphic image of familial congenital vascular malformations in two sisters. A 17-years-old young woman with a history of multiple hospitalisations for foci of vascular anomalies appearing progressively in the upper and lower right limbs, chest wall and spleen. A Parkes Weber syndrome was diagnosed based on the clinical picture. Due to the occurrence of new foci of malformations, a whole-body scintigraphic examination was performed. A 12-years-old girl reported a lump in the right lower limb present for approximately 2 years, which was clinically identified as a vascular lesion in the area of calcaneus and talus. Phleboscintigraphy visualized normal radiomarker outflow from the feet via the deep venous system, also observed in the superficial venous system once the tourniquets were released. In static and whole-body examinations vascular malformations were visualised in the area of the medial cuneiform, navicular and talus bones of the left foot, as well as in the projection of right calcaneus and above the right talocrural joint. People with undiagnosed disorders related to the presence of vascular malformations should undergo periodic follow-up to identify lesions that may be the cause of potentially serious complications and to assess the results of treatment. Presented scintigraphic methods may be used for both diagnosing and monitoring of disease progression

Pattern of Gross Congenital Malformations in a Tertiary Referral Hospital in Northeast India.

Science.gov (United States)

Baruah, Jenita; Kusre, Giriraj; Bora, Reeta

2015-10-01

To explore the prevalence of structural congenital malformations among newborns and study some of the fetal and maternal characteristics of the malformed babies in North east India where such systematic study on congenital malformation has not been undertaken before. A cross sectional study was undertaken from May 2010 through Feb 2013 for estimation of gross congenital malformations among live birth and stillbirth children born in Assam Medical College. All live births were clinically examined for detection of gross congenital malformations and autopsy was carried out on still births and neonates dying within 24 h of birth to detect gross congenital malformations in the internal organs. All malformations were classified as per ICD 10 classification. The mothers of the newborns with congenital malformations were interviewed in a predesigned, pretested proforma. The variables included maternal age, antenatal registration, antenatal history of drug intake, consanguinity and previous history of malformations. Statistical analysis was done using chi square test. A total 18,192 births including live births and still births were examined and 206 cases of structural malformations were observed. Prevalence of congenital malformations was 1.2 % of the total live births. Distribution of malformation was predominant among males than in females (60.67 vs. 37.37 %; p malformation of the cardiovascular system was found to be very low. Malformations among stillbirths and newborns born to unregistered mothers were significantly more. Percentage of malformations in babies born to mothers of more than 30 y of age was higher than other age groups (2.2 %). Occurrence of malformations in low birth weight babies were significantly more (p malformations was 1.2 % of the total live births. Musculoskeletal system was the most common system involved. Congenital malformations were significantly associated with sex of the new born, registration of the mother and birth weight of the

Fetal chromosome abnormalities and congenital malformations: an ...

African Journals Online (AJOL)

The results also showed that Multiple congenital anomalies (MCA) represented among 42.2%, congenital malformation of CNS represents 26.6%, congenital malformation of the skeletal system 20%, congenital polycystic kidney 8.8% and pyloric stenosis in 2.2%. Among the 21 women with abnormal karyotype of amniotic ...

Congenital malformations among newborns in Kenya | Muga ...

African Journals Online (AJOL)

Therefore, a study was conducted to determine the patterns and incidence of congenital malformations at birth in newborns in Kenya and thereby analyze associated predisposing factors in their mothers. This single cross-sectional ... followed by malformations of the central nervous system (28.6%). Polydactyl was the most ...

Field guide to malformations of frogs and toads: with radiographic interpretations

Science.gov (United States)

Meteyer, Carol U.

2000-01-01

In 1995, students found numerous malformed frogs on a field trip to a Minnesota pond. Since that time, reports of malformed frogs have increased dramatically. Malformed frogs have now been reported in 44 states in 38 species of frogs, and 19 species of toads. Estimates as high as 60% of the newly metamorphosed frog populations have had malformations at some ponds (NARCAM, ’99). The wide geographic distribution of malformed frogs and the variety of malformations are a concern to resource managers, research scientists and public health officials. The potential for malformations to serve as a signal of ecosystem disruption, and the affect this potential disruption might have on other organisms that share those ecosystems, has not been resolved. Malformations represent an error that occurred early in development. The event that caused the developmental error is temporally distant from the malformation we see in the fully developed animal. Knowledge of normal developmental principles is necessary to design thoughtful investigations that will define the events involved in abnormal development in wild frog populations.Development begins at the time an egg is fertilized and progresses by chemical communication between cells and cell layers. This communication is programmed through gene expression. Malformations represent primary errors in development, errors in chemical communication or translation of genetic information. Deformations arise later in development and usually result from the influence of mechanical factors (such as amputation) that alter shape or anatomy of a structure that has developed normally. The occurrence and the type of malformations are influenced by the type of error or insult as well as the timing of the error (the developmental stage at which the error occurred). The appearance of the malformation can therefore provide clues that suggest when the error may have occurred. If the malformation is an incomplete organ, such as an incomplete limb, the

Pericardial tamponade complicated by interventional management for Budd-Chiari syndrome: clinical analysis and treatment

International Nuclear Information System (INIS)

Zhang Luxi; Zu Maoheng; Wu Jinping; Xu Hao; Jiao Xudong; Chen Zhengkan

2011-01-01

Objective: To discuss the cases and treatment of pericardial tamponade (PT) occurred in the interventional management for Budd-Chiari syndrome (BCS). Methods: During the period from 1990 to 2006, interventional treatment was performed in 812 patients with BCS. Pericardial tamponade occurred in nine patients during the period of interventional treatment. The clinical data, including angiographic findings, clinical symptoms, management and outcomes, of the nine patients were retrospectively analyzed. The possible causes of pericardial tamponade were discussed. Results: Of the nine patients occurring pericardial tamponade, successful treatment was obtained in eight and death occurred in one. The lesions of BCS in the nine cases included inferior vena cava obstruction type (n=7), hepatic venous obstruction type (n=1) and mixed type (n=1). Pericardial tamponade was caused by mistakenly puncturing into pericardium (n=5), mistakenly puncturing together with laceration of pericardium by balloon (n=3), and breaking of pericardium by displaced stent (n=1). Conventional pericardicentesis was employed in one case, surgery was carried out in three cases, and infra-xiphoid catheterization and drainage using Seldinger technique was performed in two cases. Conservative treatment was adopted in one case and aspiration through the wrongly inserted catheter was tried in one case. In the remaining one case, aspiration through the wrongly inserted catheter together with infra-xiphoid catheterization and drainage by using Seldinger technique was carried out. Conclusion: The pericardial tamponade is an severe complication occurred in the interventional management for Budd-Chiari syndrome, although it is rarely seen. Preoperative prevention, prompt detection and rational treatment are the keys avoid serious consequences. (authors)

Abernethy malformation: a case report

Directory of Open Access Journals (Sweden)

Pathak Ashish

2012-05-01

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

Contribution of Rare Copy Number Variants to Isolated Human Malformations

Science.gov (United States)

Serra-Juhé, Clara; Rodríguez-Santiago, Benjamín; Cuscó, Ivon; Vendrell, Teresa; Camats, Núria; Torán, Núria; Pérez-Jurado, Luis A.

2012-01-01

Background Congenital malformations are present in approximately 2–3% of liveborn babies and 20% of stillborn fetuses. The mechanisms underlying the majority of sporadic and isolated congenital malformations are poorly understood, although it is hypothesized that the accumulation of rare genetic, genomic and epigenetic variants converge to deregulate developmental networks. Methodology/Principal Findings We selected samples from 95 fetuses with congenital malformations not ascribed to a specific syndrome (68 with isolated malformations, 27 with multiple malformations). Karyotyping and Multiplex Ligation-dependent Probe Amplification (MLPA) discarded recurrent genomic and cytogenetic rearrangements. DNA extracted from the affected tissue (46%) or from lung or liver (54%) was analyzed by molecular karyotyping. Validations and inheritance were obtained by MLPA. We identified 22 rare copy number variants (CNV) [>100 kb, either absent (n = 7) or very uncommon (n = 15, malformations (21%), including 11 deletions and 11 duplications. One of the 9 tested rearrangements was de novo while the remaining were inherited from a healthy parent. The highest frequency was observed in fetuses with heart hypoplasia (8/17, 62.5%), with two events previously related with the phenotype. Double events hitting candidate genes were detected in two samples with brain malformations. Globally, the burden of deletions was significantly higher in fetuses with malformations compared to controls. Conclusions/Significance Our data reveal a significant contribution of rare deletion-type CNV, mostly inherited but also de novo, to human congenital malformations, especially heart hypoplasia, and reinforce the hypothesis of a multifactorial etiology in most cases. PMID:23056206

Regenerative nodules in patients with chronic Budd-Chiari syndrome: A longitudinal study using multiphase contrast-enhanced multidetector CT

International Nuclear Information System (INIS)

Flor, Nicola; Zuin, Massimo; Brovelli, Francesca; Maggioni, Marco; Tentori, Augusta; Sardanelli, Francesco; Cornalba, Gian Paolo

2010-01-01

Objective: Our aim was to evaluate the serial evolution of regenerative nodules in patients with Budd-Chiari syndrome (BCS) treated with portal-systemic shunts, using multiphasic multidetector computed tomography (MDCT). Materials and methods: Five patients each underwent three MDCT exams over an extended period ranging from 36 to 42 months. Two radiologists in consensus retrospectively reviewed each exam for each patient. Individual nodules were grouped according to size (size I: nodules with diameter ≤15 mm; size II: >15 mm but <30 mm; size III: ≥30 mm), pattern of enhancement (A: homogeneously hypervascular or B: with central scar), and segmental location. Four nodules classified as size II, which increased in size over time, were needle-biopsied. Results: We detected 61 nodules at the first exam, 66 nodules at the second exam (7 nodules disappeared and 12 new nodules), and 85 nodules at the third exam (8 disappeared and 27 new) for a total of 212 findings. Nodules were mostly found in the right hepatic lobe. Fourteen of the 15 nodules that disappeared over time were size I and enhancement pattern A. At unenhanced MDCT, 204 (96%) of the 212 findings were isodense. Overall, 100 nodules, including the 61 initially detected, were considered newly diagnosed; of these 84 (84%) were size I and pattern A. Of 57 nodules considered size I and pattern A at the first or second exam, 24 (42%) changed to pattern B at the third exam and either size II (n = 18) or III (n = 6). The four biopsied nodules were each confirmed as benign regenerative nodule. No patient developed HCC at 5-year follow-up period. Conclusion: Hepatic nodules in BCS patients not only increase in number over time but may also increase in size and develop a central scar.

Skeletal malformations in fetuses with Meckel syndrome

DEFF Research Database (Denmark)

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

1999-01-01

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

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

African Journals Online (AJOL)

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

Common congenital malformations of the brain

International Nuclear Information System (INIS)

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

1987-01-01

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

Surgical experience with arteriovenous malformations of the brain

International Nuclear Information System (INIS)

Stein, B.M.

1984-01-01

Personal experience with the treatment of 200 arteriovenous malformations of the brain seen during the past decade is presented. One hundred and twenty of these patients underwent surgery, with a mortality of 1,7%. The morbidity rate of 10% includes cases of hemianopia after occipital malformations had been removed. Significant morbidity, including aphasia, hemiparesis and hemisensory loss, occurred in under 10% of cases. Computerized tomography plays an important role in determining the relationships of the arteriovenous malformations to associated structures such as the ventricular system

The budd-Chiari syndrome in a child: a case report and review of the literature.

Science.gov (United States)

Misra, Vatsala; Verma, Kachnar; Singh, Dharmendra Kumar; Misra, Sri Prakash

2012-12-01

The Budd-Chiari Syndrome is associated with hepatic venous outflow obstruction. This syndrome is rare in infants and children. As this syndrome is uncommon, especially in the paediatric age group, misdiagnoses and delays in the diagnosis are frequent. A high index of clinical suspicion along with a radiological aid and a histopathological correlation can lead to an early diagnosis and an appropriate management in such cases.This case report highlights the occurrence of this rare condition in the paediatric age group as well as it redefines the salient features of this syndrome.

Congenital Malformations in Neonates after irradiation of Rats During Pregnancy

International Nuclear Information System (INIS)

Abdel-Gawad, I.I.; Mohammad, M.H.M.

2000-01-01

Radiation is considered a teratogen during the whole period of embryonic development and fetal growth. However, the time of gestation at which irradiation takes place will affect the type of congenital malformation Induced. A study was carried out to observe various forms of congenital malformations induced after irradiation of pregnant rats to 1,2 and 3 Gy on the 9 th , 12 th and 15 th days of gestation. Various types of congenital malformations were observed in the neonates of irradiated animals as compared to controls. Most of the malformations were observed in neonates of animals irradiated with 2 and 3 Gy on the 12 th and 15 th days of gestation. This confirms that developmental anomalies occur mostly during the period of organ development. Other periods of gestation are less vulnerable to, induction of malformation after irradiation. Some representative photographs of the malformations induced such as penguin shape, absence of tail, low set ears, growth retardation and others are illustrated in the text

[Diagnostic value of high-resolution computed tomography imaging in congenital inner ear malformations].

Science.gov (United States)

Sun, Xiaowei; Ding, Yuanping; Zhang, Jianji; Chen, Ying; Xu, Anting; Dou, Fenfen; Zhang, Zihe

2007-02-01

To observe the inner ear structure with volume rendering (VR) reconstruction and to evaluate the role of high-resolution computed tomography (HRCT) in congenital inner ear malformations. HRCT scanning was performed in 10 patients (20 ears) without ear disease (control group) and 7 patients (11 ears) with inner ear malformations (IEM group) and the original data was processed with VR reconstruction. The inner ear osseous labyrinth structure in the images generated by these techniques was observed respectively in the normal ears and malformation ears. The inner ear osseous labyrinth structure and the relationship was displayed clearly in VR imaging in the control group,meanwhile, characters and degree of malformed structure were also displayed clearly in the IEA group. Of seven patients (11 ears) with congenital inner ear malformations, the axial, MPR and VR images can display the site and degree in 9 ears. VR images were superior to the axial images in displaying the malformations in 2 ears with the small lateral semicircular canal malformations. The malformations included Mondini deformity (7 ears), vestibular and semicircular canal malformations (3 ears), vestibular aqueduct dilate (7 ears, of which 6 ears accompanied by other malformations) , the internal auditory canal malformation (2 ears, all accompanied by other malformations). HRCT can display the normal structure of bone inner ear through high quality VR reconstructions. VR images can also display the site and degree of the malformations three-dimensionally and intuitively. HRCT is valuable in diagnosing the inner ear malformation.

Congenital spinal malformations; Kongenitale spinale Malformationen

Energy Technology Data Exchange (ETDEWEB)

Ertl-Wagner, B.B.; Reiser, M.F. [Klinikum Grosshadern, Ludwig-Maximilians-Univ. Muenchen (Germany). Inst. fuer Klinische Radiologie

2001-12-01

Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.) [German] Kongenitale spinale Malformationen stellen eine komplexe Gruppe an Stoerungen dar, deren Genese sich am einfachsten aus der Embryologie heraus erklaeren laesst. Bei der klinisch-radiologischen Begutachtung ist zunaechst ihre korrekte Klassifikation im Rahmen der Erstdiagnose wichtig. Im weiteren Verlauf ist es jedoch zudem entscheidend, moegliche Komplikationen wie beispielsweise eine Hydromyelie oder ein Wiederanheften des Myelons nach Operation einer Spina bifida aperta zu erkennen. Zudem sollte bei der Diagnosestellung einer kongenitalen spinalen Malformation immer auch auf assoziierte Fehlbildungen, wie z.B. die Diastematomyelie oder das intraspinale Lipom bei der Spina bifida aperta, sowie auf eine moegliche syndromale Einordnung wie beispielsweise beim OEIS-oder VACTERL-Syndrom geachtet werden. (orig.)

Therapies for neonates with congenital malformations admitted to a neonatal unit

Directory of Open Access Journals (Sweden)

Maria Vera Lúcia Moreira Leitão Cardoso

2015-03-01

Full Text Available The aim of this study was to characterize the treatments applied to newborns with congenital malformation hospitalized in a neonatal unit and to identify whether there is an association among the treatments used and the type of malformation. A descriptive, prospective and quantitative study was developed in a public institution in Fortaleza, Ceará, Brazil. Data were collected using the medical records of 30 neonates with congenital malformations. The incidence of malformations was higher among females, regardless of the mother’s age, gestational age or weight at birth; malformations of the central nervous and musculoskeletal systems prevailed. The treatments used varied according to the clinical evolution of the neonate. The data collected did not present statistical significance when associated with the variable of congenital malformation and the treatments used (p>0.05. The treatments are not directly related to the type of malformation, but to the clinical condition of the neonate.

Vascular malformations in pediatrics; Vaskulaere Erkrankungen bei Neugeborenen, Saeuglingen und Kindern

Energy Technology Data Exchange (ETDEWEB)

Reith, W. [Abteilung fuer Neuroradiologie, Radiologische Universitaetsklinik Homburg/Saar (Germany); Abteilung fuer Neuroradiologie, Radiologische Universitaetsklinik, 66421, Homburg/Saar (Germany); Shamdeen, M.G. [Kinderklinik, Universitaetsklinikum Homburg/Saar (Germany)

2003-11-01

Vascular malformations are the cause of nearly all non-traumatic intracranial hemorrhage in children beyond the neonatal stage. Therefore, any child presenting with spontaneous intracranial hemorrhage should be evaluated for child abuse and for vascular malformations. Intracerebral malformations of the cerebral vasculature include vein of Galen malformations, arteriovenous malformation (AVM), cavernomas, dural arteriovenous fistulas, venous anomalies (DVA), and capillary teleangiectasies. Although a few familial vascular malformation have been reported, the majority are sporadic. Clinical symptoms, diagnostic and therapeutic options are discussed. (orig.) [German] Vaskulaere Malformationen sind die haeufigste Ursache einer intrakraniellen Blutung im Saeuglings- und Kindesalter. Deswegen sollte jedes Kind mit einer intrakraniellen Blutung auf eine vaskulaere Malformation und Kindesmisshandlung untersucht werden. Intrazerebrale Gefaessmalformationen beinhalten Vena-Galeni-Anomalien, arteriovenoese Malformationen (AVM), Kavernome, durale arteriovenoese Fisteln, kapillaere Teleangiektasien und venoese Anlagevarianten (DVA). Obwohl einige familiaere Gefaessmalformationen beschrieben sind, tritt die ueberwiegende Mehrzahl spontan auf. Die Klinik, Diagnostik und therapeutischen Optionen werden diskutiert. (orig.)

[Diagnosis and management of Mondini malformation].

Science.gov (United States)

Yang, W; Fang, Y; Yang, S

1997-02-01

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

First report of microcephaly-capillary malformations syndrome in ...

African Journals Online (AJOL)

Background: Microcephaly-capillary malformation (MIC-CAP) syndrome is a newly described autosomal recessive syndrome characterized by microcephaly, multiple cutaneous capillary malformations, intractable epilepsy and profound developmental delay. We present the first description of MIC-CAP syndrome in Russia.

Anaesthetic management of a child with massive extracranial arteriovenous malformation

Directory of Open Access Journals (Sweden)

Faisal Shamim

2012-01-01

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

Percutaneous transfermoral embolization of intracerebral arteriovenous malformation by using conventional catheter

International Nuclear Information System (INIS)

Choo, In Wook; Park, Soo Sung; Yoon, Jung Sup; Lim, Hyo Keun; Lee, Kyu Ho; Eoh, Whan

1988-01-01

Non-surgical transfermoral embolization of centrally located huge intracerebral arteriovenous malformation (AVM) was successfully performed by using conventional 6.5F DAVIS II Catheter in the department of Radiology, Kangdong Sacred Heart Hospital, May 17, 1988. The large A.V.M. was located in left basal ganglia and thalamus on brain C.T. and was supplied by multiple dilated lateral lenticulostriate arteries from left middle cerebral artery and posterior thalamoperforating artery, posterior choroidal artery from left posterior cerebral artery angiographically. The AVM was partially obliterated after embolization of lateral lenticulostriate arteries and thalamoperforating artery with P.V.A. (Polyvinyl Alcohol, ivalon) using conventional 6.5F DAVIS II angiographic catheter. There was no complication which was related to those embolization procedures except transient drowsy consciousness after embolization but it is completely recovered to the level of preembolization state after 10 hours.

Lamb congenital lymphatic malformation - a case report

Directory of Open Access Journals (Sweden)

Neria Santos

2014-01-01

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

Genetic causes of congenital brain malformations in epilepsy patients

DEFF Research Database (Denmark)

Møller, Rikke Steensbjerre

2008-01-01

The search for genetic causes of congenital brain malformations, severe epilepsy and mental retardation plays an important role in neuropediatrics and neurology. Disclosure of the aetiology of the intellectual disabilities, seizures and the underlying brain malformation may be of psychological va...... genes for developmental brain defects. The overall aim of the present study has been to identify new candidate genes or predisposing factors involved in congenital brain malformations in epilepsy patients.......The search for genetic causes of congenital brain malformations, severe epilepsy and mental retardation plays an important role in neuropediatrics and neurology. Disclosure of the aetiology of the intellectual disabilities, seizures and the underlying brain malformation may be of psychological...... value for the family, and it is essential for proper genetic counselling. The human brain is one of the most complex structures known, and probably many of the 25.000- 30.000 genes that comprise the human genome are involved in its development, which means that thousands of genes could be candidate...

Mortality among infants with congenital malformations, New York State, 1983 to 1988.

Science.gov (United States)

Druschel, C; Hughes, J P; Olsen, C

1996-01-01

OBJECTIVE. The authors examined first-year mortality and risk factors for mortality among infants with major congenital malformations. METHODS. Infants with major congenital malformations born from 1983 to 1988 were identified from a statewide population-based congenital malformations registry. Variables analyzed included year of birth, birth weight, gestational age, infant sex, number of malformations, number of organ systems involved, level of care of the birth hospital, maternal age, maternal education, and maternal ethnicity. RESULTS. Infants with major malformations had a risk of death 6.3 times higher than the general population of live births. The risk declined from 6.5 in 1983 to 5.9 in 1988. Birth weight and number of malformations were the strongest risk factors. The likelihood of survival was similar for white and black infants. CONCLUSIONS. Being born with a malformation outweighs most of the other risks for infant mortality. Children with congenital malformations had higher cause-specific mortality for all causes except injury. PMID:8711105

Detecting congenital malformations - Lessons learned from the Mpepu study, Botswana.

Directory of Open Access Journals (Sweden)

Gbolahan Ajibola

Full Text Available A large and increasing number of HIV-infected women are conceiving on antiretroviral treatment (ART. While most antiretrovirals are considered safe in pregnancy, monitoring for rare pregnancy and infant adverse outcomes is warranted.We conducted a retrospective secondary analysis nested within a clinical trial of infant cotrimoxazole vs. placebo prophylaxis in Botswana (the Mpepu Study. Infants were examined at birth, and at least every 3 months through 18 months of age. Abnormal physical findings and diagnostic testing revealing malformations were documented. Post hoc, a geneticist classified all reported malformations based on available documentation. Structural malformations with surgical, medical or cosmetic importance were classified as major malformations. We present a descriptive analysis of identified malformations.Between 2011 and 2014, 2,933 HIV-infected women who enrolled in the Mpepu study delivered 2,971 live-born infants. Study staff conducted 2,944 (99% newborn exams. One thousand eighty-eight (38% women were taking ART at conception; 1,147 (40% started ART during pregnancy; 442 (15% received zidovudine monotherapy; and 223 (7% received no antiretroviral during pregnancy. Of 33 reported anomalies, 25 (76% met congenital malformations criteria, 10 (30% were classified as major malformations, 4 (40% of which were identified after the birth exam.Our results highlight the importance of staff training on identification of congenital malformations, programmatic monitoring beyond the birth examination and the value of geneticist involvement in the malformations classification process in resource-limited settings. These elements will be important to fully define antiretroviral drug safety in pregnancy.Surveillance systems for monitoring the safety of antiretroviral use during pregnancy among HIV-infected women in resource-limited setting are lacking. The World Health Organization's published programmatic recommendations for such

Arteriovenous Malformation of the Pancreas

Directory of Open Access Journals (Sweden)

Alexandros Charalabopoulos

2011-01-01

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

Clinical and Genetic Studies in Inherited Cardiovascular Malformations

NARCIS (Netherlands)

I.M.B.H. van de Laar (Ingrid)

2012-01-01

textabstractCardiovascular malformations comprise a broad spectrum of anomalies of the heart and blood vessels, including congenital heart malformations (CHM) and aortic aneurysms, the two main topics of this thesis. These conditions lead to significant morbidity and mortality both in infancy and

Congenital pseudoarthrosis associated with venous malformation

International Nuclear Information System (INIS)

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

2007-01-01

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

Congenital pseudoarthrosis associated with venous malformation

Energy Technology Data Exchange (ETDEWEB)

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

2007-06-15

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

Angiotensin-Converting Enzyme Inhibitors and the Risk of Congenital Malformations.

Science.gov (United States)

Bateman, Brian T; Patorno, Elisabetta; Desai, Rishi J; Seely, Ellen W; Mogun, Helen; Dejene, Sara Z; Fischer, Michael A; Friedman, Alexander M; Hernandez-Diaz, Sonia; Huybrechts, Krista F

2017-01-01

To examine the association between first-trimester angiotensin-converting enzyme (ACE) inhibitor exposure and the risk of overall major congenital, cardiac, and central nervous system malformations. We used a cohort of completed pregnancies linked to liveborn neonates derived from Medicaid claims from 2000 to 2010. We examined the risk of malformations associated with first-trimester exposure to an ACE inhibitor. Propensity score-based methods were used to control for potential confounders including maternal demographics, medical conditions, exposure to other medications, and measures of health care utilization. The cohort included 1,333,624 pregnancies, of which 4,107 (0.31%) were exposed to ACE inhibitors during the first trimester. The prevalence of overall malformations in the ACE inhibitor-exposed pregnancies was 5.9% compared with 3.3% in the unexposed (unadjusted relative risk, 1.82; 95% confidence interval [CI] 1.61-2.06), of cardiac malformations was 3.4% compared with 1.2% (relative risk 2.95, 95% CI 2.50-3.47), and of central nervous system malformations was 0.27% compared with 0.18% (relative risk 1.46, 95% CI 0.81-2.64). After restricting the cohort to pregnancies complicated by chronic hypertension (both exposed and unexposed) and accounting for other confounding factors, there was no significant increase in the risk of any of the outcomes assessed. Relative risks associated with first-trimester ACE inhibitor exposure were 0.89 (95% CI 0.75-1.06) for overall malformations, 0.95 (95% CI 0.75-1.21) for cardiac malformations, and 0.54 (95% CI 0.26-1.11) for CNS malformations. After accounting for confounders, among women with hypertension, exposure to ACE inhibitors during the first trimester was not associated with an increased risk of major congenital malformations.

Congenital malformations in infants born after in vitro fertilization in Sweden.

Science.gov (United States)

Källén, Bengt; Finnström, Orvar; Lindam, Anna; Nilsson, Emma; Nygren, Karl-Gösta; Otterblad, Petra Olausson

2010-03-01

The risk for congenital malformations is increased in infants born after in vitro fertilization (IVF). Some specific malformations appear to be more affected than others. The presence of congenital malformations in 15,570 infants born after IVF with an embryo transfer between April 1, 2001, and the end of 2006 were compared with all infants born in Sweden during 2001 to 2007 (n = 689,157). Risk estimates were made after adjusting for year of birth, maternal age, parity, smoking, and body mass index. The risks of specific malformations were compared with data from a previous study (1982 to March 31, 2001) of 16,280 infants born after IVF. Different IVF methods were compared to respect to malformation risk. Increased risks of a similar magnitude were found for most cardiovascular malformations and limb reduction defects for both study periods. For neural tube defects, cardiac septal defects, and esophageal atresia, there was still an increased risk, but it was lower during the second than during the first period. For small bowel atresia, anal atresia, and hypospadias, the risk increase observed during the first study period had disappeared during the second period. An increased risk was seen for some syndromes that have been associated with imprinting errors. No difference in malformation risk according to IVF method was apparent. A slightly increased risk for congenital malformations after IVF persists. A decreasing risk is seen for some specific malformations, either true or the result of multiple testing. Copyright 2010 Wiley-Liss, Inc.

Agenesis of the internal carotid artery with a trans-sellar anastomosis: CT and MRI findings in late-onset congenital hypopituitarism

International Nuclear Information System (INIS)

Mellado, J.M.; Merino, X.; Ramos, A.; Salvado, E.; Sauri, A.

2001-01-01

A 29-year-old woman with a history of hypothyroidism since early childhood developed hypopituitarism. CT and MRI revealed anterior pituitary hypoplasia, an ectopic posterior lobe, a Chiari I malformation and agenesis of the right internal carotid artery with a trans-sellar anastomosis. This constellation of findings constitutes a previously unreported association in congenital hypopituitarism of late onset. The usefulness of imaging modalities and the pathogenic implications are also discussed. (orig.)

Congenital cystic lung malformations

International Nuclear Information System (INIS)

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

2006-01-01

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

A new cochlear implant electrode with a "cork"-type stopper for inner ear malformations.

Science.gov (United States)

Sennaroğlu, Levent; Atay, Gamze; Bajin, Münir Demir

2014-08-01

Gusher in inner ear malformations is common in patients with incomplete partition type I and type III. It is also common in less severe form as oozing in incomplete partition type II and large vestibular aqueduct. It is important to prevent cerebrospinal fluid (CSF) escape around the electrode to prevent meningitis. The custom-made device was produced by Med-El Company. It has a "cork"-like stopper instead of the usual silicon ring to prevent gusher. There are two types of electrodes of different lengths. The standard one is 25mm (contact space 1.7mm) and the short one is 20mm (contact space 1.3mm). It was used in 50 patients with different inner ear malformations. Thirteen patients had gusher, and 11 patients oozing during cochleostomy. One patient with initial prototype of the cork electrode had to be revised because of persistent oozing around the electrode. Another patient had slow extrusion of the electrode most probably due to CSF pulsation and had to be revised. Both patients had no more CSF fistula. CSF fistula in inner ear malformations is a serious situation which may lead to recurrent meningitis. The new electrode with "cork" stopper looks promising in preventing the postoperative CSF leak around the electrode. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Liver transplantation in a patient with primary antiphospholipid syndrome and Budd-Chiari syndrome

Science.gov (United States)

Reshetnyak, Tatiana M; Seredavkina, Natalia V; Satybaldyeva, Maria A; Nasonov, Evgeniy L; Reshetnyak, Vasiliy I

2015-01-01

The antiphospholipid syndrome (APS) is an acquired thrombophilic disorder in which autoantibodies are produced to a variety of phospholipids determinants of cell membranes or phospholipid binding proteins. There are few reports about association between antiphospholipid antibodies and development of Budd-Chiari syndrome (BCS). We report the case of BCS development in young Russian male with primary APS. The patient underwent orthotopic liver transplantation on August 26, 2012. At present time his state is good, the blood flow in the liver restored and its function is not impaired. We report about the first time the successful use of dabigatran etexilate for prolonged anticoagulation therapy in APS patient with BCS. In addition patient is managed with immunosuppressive drugs. PMID:26380049

Meningitis after cochlear implantation in Mondini malformation.

Science.gov (United States)

Page, E L; Eby, T L

1997-01-01

Although the potential for CSF leakage and subsequent meningitis after cochlear implantation in the malformed cochlea has been recognized, this complication has not been previously reported. We report a case of CSF otorhinorrhea and meningitis after minor head trauma developing 2 years after cochlear implantation in a child with Mondini malformation. Leakage of CSF was identified from the cochleostomy around the electrode of the implant, and this leak was sealed with a temporalis fascia and muscle plug. Although this complication appears to be rare, care must be taken to seal the cochleostomy in children with inner ear malformations at the initial surgery, and any episode of meningitis after surgery must be thoroughly investigated to rule out CSF leakage from the labyrinth.

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

Science.gov (United States)

Zhu, X; Lian, N; Cai, Z

1995-01-01

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

Introducing chinese treatment experience of Budd-Chiari syndrome to world wide

International Nuclear Information System (INIS)

Li Linsun

2008-01-01

During the latest 20 years, the crucial progress has been made in the field of treatment for Budd-Chiari syndrome (BCS)in China with therapeutic methods transferring from surgical to interventional and achieving successful rate of 96%. Our unique contribution to the BCS interventional therapy should have made ourselves proud for being as a superior world position on account of large number of cases, abundant therapeutic contents and consummate skills. What a pity is that our achievement was not appreciated by international colleagues because of only a few papers published in SCI journals. So that, Chinese scholars ought to have doing more necessarily through diligently learning English, doing long term follow-up and performing more basic researches and actively joining international academic exchanges, let our good experiences of treatment for BCS be introduced to the world-wide. (authors)

Gross congenital malformation at birth in a government hospital.

Science.gov (United States)

Sachdeva, Sandeep; Nanda, Smiti; Bhalla, Kapil; Sachdeva, Ruchi

2014-01-01

A hospital-based cross-sectional study was undertaken to determine proportion of gross congenital malformation (GCMF) occurring at intramural births. Rate of GCMF was found to be 16.4/1000 consecutive singleton births (>28 weeks) with three leading malformation as anencephaly (44.68%), talipes equinovarus (17.02%) and meningomyelocele (10.63%). Higher risk of malformed births were noticed amongst un-booked (2.07%) in-comparison to booked (1.01%) mothers; women with low level of education (up to 8 years [2.14%] vs. at least 9 years of schooling [0.82%]); gravida status of at least 3 (2.69%) followed by 1 (1.43%) and 2 (1.0%) respectively; pre-term (5.13%) vs. term (0.66%); cesarean section (4.36%) versus vaginal delivery (0.62%). Mortality was significantly higher among congenitally malformed (17.35%) than normal (0.34%) newborns. With-in study limitation, emergence of neural tube defect as the single largest category of congenital malformation indicates maternal malnutrition (especially folic acid) that needs appropriate attention and management.

Fetal MRI clues to diagnose cloacal malformations

Energy Technology Data Exchange (ETDEWEB)

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

2011-09-15

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

Neuroradiological evaluation of dorsal cyst malformations

International Nuclear Information System (INIS)

Utsunomiya, Hidetsuna; Hayashi, Takashi; Hashimoto, Takeo; Matsuishi, Toyojiro; Okudera, Toshio.

1988-01-01

We discussed six cases with dorsal cyst malformations listing their neuroradiological observations and proposed to differentiate between the holosphere and hemisphere as defined by Yokota (1984). The cases were divided into holospheric and hemispheric groups depending on the continuity of their frontal lobe midlines. Cases 1, 2 and 3 were placed in the holospheric group because of their unseparated frontal lobe sbeneath the partially formed anterior interhemispheric fissures. Cases 4, 5 and 6 were grouped in the hemisphere due to the completion of the interhemispheric fissures. There has been a tendency in recent years for most cases of cerebral malformations having an endogenous dorsal cyst with monoventricular configuration to be diagnosed as holoprosencephaly. However, we believe that only patients who have a dorsal cyst in the holospheric brain should be included, and the others in the hemispheric brain, which is capable of completing hemispheric cleavage, should not. Therefore, we emphasize the importance of correctly identifying the holospheric state in the dorsal cyst malformations for diagnosing holoprosencephaly. (author)

Complex arteriovenous malformation - a case report

International Nuclear Information System (INIS)

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

2014-01-01

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

Long-Term Follow-Up After Successful Transjugular Intrahepatic Portosystemic Shunt Placement in a Pediatric Patient with Budd-Chiari Syndrome

International Nuclear Information System (INIS)

Carnevale, Francisco Cesar; Szejnfeld, Denis; Moreira, Airton Mota; Gibelli, Nelson; Gregorio, Miguel Angel De; Tannuri, Uenis; Cerri, Giovanni Guido

2008-01-01

Orthotopic liver transplantation is the standard of care in patients with Budd-Chiari syndrome (BCS), and transjugular intrahepatic portosystemic shunt (TIPS) has become an important adjunct procedure while the patient is waiting for a liver. No long-term follow up of TIPS in BCS patients has been published in children. We report successful 10-year follow-up of a child with BCS and iatrogenic TIPS dysfunction caused by oral contraceptive use.

Functional Budd-Chiari Syndrome Associated With Severe Polycystic Liver Disease

Directory of Open Access Journals (Sweden)

Precil Diego Miranda de Menezes Neves

2017-06-01

Full Text Available A 50-year-old woman with end-stage renal disease secondary to autosomal dominant polycystic kidney disease was referred to a quaternary care center due to significantly increased abdominal girth. Her physical examination revealed tense ascites and abdominal collateral veins. A 10-L paracentesis improved abdominal discomfort and disclosed a transudate, suggestive of portal hypertension. A computed tomographic scan revealed massive hepatomegaly caused by multiple cysts of variable sizes, distributed throughout all hepatic segments. Contrast-enhanced imaging uncovered extrinsic compression of hepatic and portal veins, resulting in functional Budd-Chiari syndrome and portal hypertension. Although image-guided drainage followed by sclerosis of dominant cysts could potentially lead to alleviation of the extrinsic compression, the associated significant risk of cyst hemorrhage and infection precluded this procedure. In this scenario, the decision was to submit the patient to a liver-kidney transplantation. After 1 year of this procedure, the patient maintains normal liver and kidney function and refers significant improvement in quality of life.

A rare association of rectal and genitourinary duplication and anorectal malformation

Institute of Scientific and Technical Information of China (English)

王俊; 施诚仁; 余世耀; 吴燕; 徐长辉

2003-01-01

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

Clinico-roentgenological atlas of congenital malformations in human limbs

International Nuclear Information System (INIS)

Luzina, E.V.; Shakirov, Eh.A.

1990-01-01

The objective of the present atlas is to familiarize a wide range of physicians with localizations of congenital malformations in human limbs which are little studied clinically and roentgenologically. The atlas illustrates different variants of malformations of upper and lower limbs systematized by nosological principle; multiple and some, rarely occuring system deformations of the skeleton. Malformation features are described and their names are presented in compliance with the international classification taking into account the vocabulary of medical terms. 102 refs.; 121 figs

Fever in pregnancy and the risk of congenital malformations

DEFF Research Database (Denmark)

Sass, L; Urhoj, S K; Kjærgaard, J

2017-01-01

Background: In a variety of animal species, hyperthermia in pregnancy has been recognized as teratogenic. Hyperthermia interferes with protein synthesis via heat-shock proteins, which can entail membrane disruption, cell death, vascular disruption, and placental infarction. This can induce severe....... Congenital malformations within the first three and a half years of life were categorized according to EUROCAT's classification criteria. Logistic regression models were used to estimate the associations between fever in first trimester and overall congenital malformations and congenital malformations...

Dandy-Walker malformation | Hamid | Egyptian Journal of Medical ...

African Journals Online (AJOL)

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

Infertility, infertility treatment, and congenital malformations: Danish national birth cohort

Science.gov (United States)

Zhu, Jin Liang; Basso, Olga; Obel, Carsten; Bille, Camilla; Olsen, Jørn

2006-01-01

Objectives To examine whether infertile couples (with a time to pregnancy of > 12 months), who conceive naturally or after treatment, give birth to children with an increased prevalence of congenital malformations. Design Longitudinal study. Setting Danish national birth cohort. Participants Three groups of liveborn children and their mothers: 50 897 singletons and 1366 twins born of fertile couples (time to pregnancy ≤ 12 months), 5764 singletons and 100 twins born of infertile couples who conceived naturally (time to pregnancy > 12 months), and 4588 singletons and 1690 twins born after infertility treatment. Main outcome measures Prevalence of congenital malformations determined from hospital discharge diagnoses. Results Compared with singletons born of fertile couples, singletons born of infertile couples who conceived naturally or after treatment had a higher prevalence of congenital malformations—hazard ratios 1.20 (95% confidence interval 1.07 to 1.35) and 1.39 (1.23 to 1.57). The overall prevalence of congenital malformations increased with increasing time to pregnancy. When the analysis was restricted to singletons born of infertile couples, babies born after treatment had an increased prevalence of genital organ malformations (hazard ratio 2.32, 1.24 to 4.35) compared with babies conceived naturally. No significant differences existed in the overall prevalence of congenital malformations among twins. Conclusions Hormonal treatment for infertility may be related to the occurrence of malformations of genital organs, but our results suggest that the reported increased prevalence of congenital malformations seen in singletons born after assisted reproductive technology is partly due to the underlying infertility or its determinants. The association between untreated infertility and congenital malformations warrants further examination. PMID:16893903

Percutaneous Transjugular Direct Porto-caval Shunt in Patients with Budd-Chiari Syndrome

International Nuclear Information System (INIS)

Quateen, A.; Pech, M.; Berg, T.; Bergk, A.; Podrabsky, P.; Felix, R.; Ricke, J.

2006-01-01

The purpose of the study was to evaluate the feasibility and effectiveness of direct porto-caval shunts in patients with Budd-Chiari syndrome (BCS) in whom there is no access to the hepatic veins during transjugular intrahepatic portosystemic shunt (TIPSS). We included six consecutive patients with fulminant/acute Budd-Chiari syndrome (mean age: 35 years) in whom a conventional TIPSS was not possible due to inaccessible hepatic veins. We performed a direct porto-caval shunt via a transhepatic approach. Patients were followed up by means of clinical examination, laboratory investigations, and Doppler ultrasound. TIPSS implantation from the inferior vena cava (IVC) was successful in all six patients (100%). The median transhepatic shunt length was 9 cm (8-10 cm). No procedure-related complications were observed in our patients. Early shunt occlusion occurred in three out of six patients (50%). In all three of these patients, the stent used to stabilize the shunt ended 1-2 cm before reaching the IVC. All occlusions were successfully recanalized. One of these patients developed recurrent early shunt as well as mesenteric and splenic vein occlusions. She died 7 days after TIPSS placement due to an unmanageable coagulation disorder. The remaining five patients were followed up by planned clinical examination and laboratory investigations (mean follow-up time was 15 months; patient 1 was followed up for 13 months, patient 2 for 14 months, patient 3 for 15 months, and patients 4 and 5 for 16 months) and all displayed a complete and durable resolution of liver failure and ascites without reintervention. In patients with acute liver failure originating from BCS and inaccessible hepatic veins, a direct transhepatic porto-caval shunt can be performed safely and effectively under ultrasound guidance. Future studies in larger patient groups should investigate if the patency of transcaval TIPSS with long transhepatic shunt segments is similar compared to conventional TIPSS via

Magnetic resonance imaging of syrinx cavity. Differentiation between syrinx with spinal cord tumor and without tumor

Energy Technology Data Exchange (ETDEWEB)

Fukuda, Teruo; Inoue, Yuichi; Nemoto, Yutaka

1987-12-01

Syrinx cavity may result from a number of intramedullary tumors or non-neoplastic conditions such as Chiari malformation, trauma and meningitis. The surgical procedure to repair the syrinx is quite different between the cases with spinal cord tumor and without tumor. Therefore, it is important to determine whether syrinx is associated with tumor or not before surgery. We reviewed MR images of 26 cases with syrinx cavity; 20 of which were not associated with tumor (12 Chiari malformation, 5 trauma, 1 meningitis, 1 hydrocephalus, 1 idiopathic) and 6 of which were associated with intramedullary tumor (3 ependymoma, 2 astrocytoma, 1 hemangioendothelioma). The syrinx showed low signal in all 26 cases on T1 weighted images (SE 600/40). All 6 cases with syrinx associated with intramedullary tumor showed high intensity on T2 weighted images (SE 2000/120). On the other hand, the syrinx of 19 of 20 cases with no tumor condition showed reduced intensity on T2 weighted images. Only one post-traumatic small syrinx showed high signal. This was quite different between the cases with spinal cord tumor and without tumor. Therefore, when the syrinx cavity shows high signal on T2 weighted images, an intramedullary tumor is strongly suggested.

Magnetic resonance imaging of syrinx cavity

International Nuclear Information System (INIS)

Fukuda, Teruo; Inoue, Yuichi; Nemoto, Yutaka

1987-01-01

Syrinx cavity may result from a number of intramedullary tumors or non-neoplastic conditions such as Chiari malformation, trauma and meningitis. The surgical procedure to repair the syrinx is quite different between the cases with spinal cord tumor and without tumor. Therefore, it is important to determine whether syrinx is associated with tumor or not before surgery. We reviewed MR images of 26 cases with syrinx cavity; 20 of which were not associated with tumor (12 Chiari malformation, 5 trauma, 1 meningitis, 1 hydrocephalus, 1 idiopathic) and 6 of which were associated with intramedullary tumor (3 ependymoma, 2 astrocytoma, 1 hemangioendothelioma). The syrinx showed low signal in all 26 cases on T1 weighted images (SE 600/40). All 6 cases with syrinx associated with intramedullary tumor showed high intensity on T2 weighted images (SE 2000/120). On the other hand, the syrinx of 19 of 20 cases with no tumor condition showed reduced intensity on T2 weighted images. Only one post-traumatic small syrinx showed high signal. This was quite different between the cases with spinal cord tumor and without tumor. Therefore, when the syrinx cavity shows high signal on T2 weighted images, an intramedullary tumor is strongly suggested. (author)

Lymphatic malformations: a proposed management algorithm.

LENUS (Irish Health Repository)

Oosthuizen, J C

2012-02-01

OBJECTIVE: The aim of this study was to develop a management algorithm for cervicofacial lymphatic malformations, based on the authors\\' experience in managing these lesions as well as current literature on the subject. STUDY DESIGN AND METHODS: A retrospective medical record review of all the patients treated for lymphatic malformations at our institution during a 10-year period (1998-2008) was performed. DATA COLLECTED: age at diagnosis, location and type of lesion, radiologic investigation performed, presenting symptoms, treatment modality used, complications and results achieved. RESULTS: 14 patients were identified. Eight (57%) male and six (43%) female. There was an equal distribution between the left and right sides. The majority (71%) of cases were diagnosed within the first year of life. The majority of lesions were located in the suprahyoid region. The predominant reason for referral was an asymptomatic mass in 7 cases (50%) followed by airway compromise (36%) and dysphagia (14%). Management options employed included: observation, OK-432 injection, surgical excision and laser therapy. In 5 cases (36%) a combination of these were used. CONCLUSION: Historically surgical excision has been the management option of choice for lymphatic malformations. However due to the morbidity and high complication rate associated this is increasingly being questioned. Recent advances in sclerotherapy e.g. OK-432 injection have also shown significant promise. Based on experience in managing these lesions as well as current literature the authors of this paper have developed an algorithm for the management of cervicofacial lymphatic malformations.

Prevalence of Congenital Malformations

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Akhavan Karbasi Sedighah

2009-05-01

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

Analysis of Lethality and Malformations During Zebrafish (Danio rerio) Development.

Science.gov (United States)

Raghunath, Azhwar; Perumal, Ekambaram

2018-01-01

The versatility offered by zebrafish (Danio rerio) makes it a powerful and an attractive vertebrate model in developmental toxicity and teratogenicity assays. Apart from the newly introduced chemicals as drugs, xenobiotics also induce abnormal developmental abnormalities and congenital malformations in living organisms. Over the recent decades, zebrafish embryo/larva has emerged as a potential tool to test teratogenicity potential of these chemicals. Zebrafish responds to compounds as mammals do as they share similarities in their development, metabolism, physiology, and signaling pathways with that of mammals. The methodology used by the different scientists varies enormously in the zebrafish embryotoxicity test. In this chapter, we present methods to assess lethality and malformations during zebrafish development. We propose two major malformations scoring systems: binomial and relative morphological scoring systems to assess the malformations in zebrafish embryos/larvae. Based on the scoring of the malformations, the test compound can be classified as a teratogen or a nonteratogen and its teratogenic potential is evaluated.

Interventional treatment for the occlusive hepatic veins in Budd-Chiari syndrome

International Nuclear Information System (INIS)

Zhang Xitong; Xu Ke; Feng Bo; Su Hongying; Li Hong; Zu Maoheng; Cui Jingguo; Yang Xueliang; Zhao Jinxu; Chen Kai

2003-01-01

Objective: To evaluate the interventional methods for occlusive hepatic veins in Budd-Chiari syndrome and its mid and long-term effects. Methods: Forty-two patients (male 17 cases and female 25 cases) aged from 18 to 57 years old (mean 34.5 years) were studied. The liver functions were Child A in 23 cases, Child B in 6 cases, and Child C in 13 cases, respectively. A total of 92 hepatic veins were occluded. Among them, 29 left hepatic veins, 24 middle hepatic veins, 36 right hepatic veins, and 3 accessory hepatic veins were occluded. Thirty-four patients were accompanied with the stenotic or occlusive inferior vena cave (IVC) . The interventional methods included: (1) recanalization of occlusive hepatic veins (by transjugular, transfemoral, and percutaneous transhepatic route, or the combination of above three methods); (2) percutaneous transluminal angioplasty; (3) self-expanding stent implantation. The occlusive IVC in 32 patients also accepted PTA and/or stent implantation. Results: The successful recanalization was carried out in forty hepatic veins in 40 patients. PTA of occlusive veins was followed by stent implantation in 8 patients. The pressure of hepatic veins dropped from 34.5 cm H 2 O (25.0-48.0 cm H 2 O) to 22.0 cm H 2 O (12.0-35.0 cm H 2 O) after intervention (T=11.50, P < 0.01). The symptoms and pathological signs improved obviously in 32 cases and improved partly in 8 cases. During the follow-up period from 1 month to 54 months (mean 27.5 months), one cases died of liver function failure at one month after intervention. The re-intervention of occlusive veins in two cases were performed and the better results were acquired again. Five cases didn't accept re-intervention. Neither recurrence of symptoms nor re-occlusion of hepatic veins was found in the other 32 patients. Conclusion: (1) Multiple and synthetical interventional methods for the occlusive hepatic veins in Budd-Chiari syndrome can be utilized. (2) The intervention of hepatic vein is mini

ECOLOGICALLY DETERMINED MALFORMATIONS IN CHILDREN IN THE ULYANOVSK REGION

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Elizaveta Grigoryevna Panchenko

2018-03-01

Full Text Available Currently particularly relevant is the interaction between ecology and people. The study had been carried to examine the correlation of congenital malformations from the residence. The analysis showed that increasing concentrations of heavy metals (lead, cadmium, and chromium in soil and air in some districts of the Ulyanovsk region correlates with a large number of congenital malformations in children, in contrast to those areas, where their content does not excees MPC, which allows to consider imbalance of trace elements as a possible factor in the development of congenital malformations.

Effect of Gastrointestinal Malformations on the Outcomes of Patients With Congenital Heart Disease.

Science.gov (United States)

Mery, Carlos M; De León, Luis E; Rodriguez, J Rubén; Nieto, R Michael; Zhang, Wei; Adachi, Iki; Heinle, Jeffrey S; Kane, Lauren C; McKenzie, E Dean; Fraser, Charles D

2017-11-01

The goal of this study was to assess the effect of associated gastrointestinal malformations (GI) on the outcomes of patients undergoing congenital heart operations. Neonates and infants with thoracic (esophageal atresia, tracheoesophageal fistula) and abdominal (duodenal stenosis/atresia, imperforate anus, Hirschsprung disease) GI malformations undergoing congenital heart operations between 1995 and 2015 were included. Two control groups were created, one for each group. Patients were matched by diagnosis, procedure, history of prematurity, presence of genetic syndrome, and a propensity score including weight and year of operation. The cohort included 383 patients: 52 (14%) with thoracic GI malformations and 98 (25%) thoracic GI controls, 80 (21%) with abdominal GI malformations and 153 (40%) abdominal GI controls. Median follow-up was 6 years (range, 16 days to 20 years). Patients with thoracic GI malformations had longer length of stay (p malformations and controls. Patients with thoracic GI malformations have worse perioperative outcomes than controls, but their long-term survival does not seem to be significantly different. Abdominal GI malformations do not have a significant effect on outcomes. The presence of GI malformations should likely not preclude patients from undergoing congenital heart operations, but careful family counseling is necessary, especially for thoracic GI malformations. Copyright © 2017 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

Syringomyelia and Craniocervical Junction Abnormalities in Chihuahuas

OpenAIRE

Kiviranta, A.‐M.; Rusbridge, C.; Laitinen‐Vapaavuori, O.; Hielm‐Björkman, A.; Lappalainen, A.K.; Knowler, S.P.; Jokinen, T.S.

2017-01-01

Background: Chiari-like malformation (CM) and syringomyelia (SM) are widely reported in Cavalier King Charles Spaniels and Griffon Bruxellois dogs. Increasing evidence indicates that CM and SM also occur in other small and toy breed dogs, such as Chihuahuas. Objectives: To describe the presence of SM and craniocervical junction (CCJ) abnormalities in Chihuahuas and to evaluate the possible association of CCJ abnormalities with SM. To describe CM/SM-related clinical signs and neuro...

SAGITTAL DIAMETER OF FORAMEN MAGNUM IN NORMAL POPULATION: AN MRI STUDY

OpenAIRE

Lakshmi

2015-01-01

Lower position of cerebellar tonsils was frequently noticed in Western studies. In some of the studies, sagittal diameter of foramen magnum was found to be larger in cases of Chiari malformation. However, there are no Indian studies for comparison. Our study was proposed to determine the standard values for sagittal diameter of foramen magnum in various age groups and both sexes. This gives a guideline for further studies in pathological conditions like Craniovertebral Junctional ...

Imaging of head and neck venous malformations

International Nuclear Information System (INIS)

Flis, Christine M.; Connor, Stephen E.

2005-01-01

Venous malformations (VMs) are non proliferative lesions that consist of dysplastic venous channels. The aim of imaging is to characterise the lesion and define its anatomic extent. We will describe the plain film, ultrasound (US) (including colour and duplex Doppler), computed tomography (CT), magnetic resonance imaging (MRI), conventional angiographic and direct phlebographic appearances of venous malformations. They will be illustrated at a number of head and neck locations, including orbit, oral cavity, superficial and deep facial space, supraglottic and intramuscular. An understanding of the classification of such vascular anomalies is required to define the correct therapeutic procedure to employ. Image-guided sclerotherapy alone or in combination with surgery is now the first line treatment option in many cases of head and neck venous malformations, so the radiologist is now an integral part of the multidisciplinary management team. (orig.)

NPHP4 Variants Are Associated With Pleiotropic Heart Malformations

NARCIS (Netherlands)

French, Vanessa M.; van de Laar, Ingrid M. B. H.; Wessels, Marja W.; Rohe, Christan; Roos-Hesselink, Jolien W.; Wang, Guangliang; Frohn-Mulder, Ingrid M. E.; Severijnen, Lies-Anne; de Graaf, Bianca M.; Schot, Rachel; Breedveld, Guido; Mientjes, Edwin; van Tienhoven, Marianne; Jadot, Elodie; Jiang, Zhengxin; Verkerk, Annemieke; Swagemakers, Sigrid; Venselaar, Hanka; Rahimi, Zohreh; Najmabadi, Hossein; Meijers-Heijboer, Hanne; de Graaff, Esther; Helbing, Wim A.; Willemsen, Rob; Devriendt, Koen; Belmont, John W.; Oostra, Ben A.; Amack, Jeffrey D.; Bertoli-Avella, Aida M.

2012-01-01

Rationale: Congenital heart malformations are a major cause of morbidity and mortality, especially in young children. Failure to establish normal left-right (L-R) asymmetry often results in cardiovascular malformations and other laterality defects of visceral organs. Objective: To identify genetic

NPHP4 variants are associated with pleiotropic heart malformations.

NARCIS (Netherlands)

French, V.M.; Laar, I.M. van de; Wessels, M.W.; Rohe, C.; Roos-Hesselink, J.W.; Wang, G.; Frohn-Mulder, I.M.; Severijnen, L.A.; Graaf, B.M. de; Schot, R.; Breedveld, G.; Mientjes, E.; Tienhoven, M. van; Jadot, E.; Jiang, Z.; Verkerk, A.; Swagemakers, S.; Venselaar, H.; Rahimi, Z.; Najmabadi, H.; Meijers-Heijboer, H.; Graaff, E. de; Helbing, W.A.; Willemsen, R.; Devriendt, K.; Belmont, J.W.; Oostra, B.A.; Amack, J.D.; Bertoli-Avella, A.M.

2012-01-01

RATIONALE: Congenital heart malformations are a major cause of morbidity and mortality, especially in young children. Failure to establish normal left-right (L-R) asymmetry often results in cardiovascular malformations and other laterality defects of visceral organs. OBJECTIVE: To identify genetic

Morbidity rate due to renal malformations in patients from Las Tunas province

Directory of Open Access Journals (Sweden)

Silvio Laffita Estévez

2015-09-01

Full Text Available Background: The urogenital congenital malformations represent the first place within the genetic malformations in the province of Las Tunas.Objective: To characterize the renal congenital malformations in pediatric patients of the herein mentioned province, from 2010 to 2014.Methods: A descriptive study was carried out with 283 paediatric patients with renal and urinary tract congenital malformation, in the province and period herein stated. The variables included: sex, clinical manifestations, more frequent malformations, which of them needed surgical treatment, the positive results of the radiological studies, and the malformations that developed into chronic renal failure. The data were analyzed according to descriptive statistics.Results: The male sex represented a 63,96 %. A 57,95 % of the children were asymptomatic. Within the congenital malformations ectasia prevailed with a 49,47 %. 100 % of the cases with a compromise of the ureteovesiccal union, ureterocele and shell of the posterior urethra, 78 % of the patients with stenosis of the ureteropyelic union and 4,76 % of the patients with vesicoureteric reflux needed surgical treatment. The radiological studies were highly positive. 1,41 % of the patients developed chronic renal failure.Conclusions: Most of the patients with renal and urinary tract congenital malformations were diagnosed before the 5 years of age. Only four patients developed chronic renal failure.

Antidepressant exposure during early pregnancy and congenital malformations

DEFF Research Database (Denmark)

Pedersen, Lars Henning

are reassuring, however, an association with heart malformations has been suggested for e.g. paroxetine. A potential biological explanation will be reviewed. The potential teratogenic potential of antidepressants needs to be balanced against the obvious problems associated with under-treated maternal depression......Pharmacological treatment of pregnant women with depression is hampered by concerns for the developing fetus. The presentation will summarize existing knowledge on the potential association between antidepressants and congenital malformations, elaborate on the scientific background, and discuss...... the clinical significance. Most information on malformations in humans is derived from epidemiological studies. The strengths and limitations of the different designs need careful consideration, including issues of confounding by indication, recall bias, and power. For most antidepressants existing data...

Congenital cystic adenomatoid malformation

International Nuclear Information System (INIS)

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

2003-01-01

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

[Epidemiological analysis of selected congenital limb malformations in Hengyang].

Science.gov (United States)

Li, Na-Na; Yuan, Yu-Mei; Liu, Yong; Dai, Li; Deng, Chang-Fei; Nie, Xing-Hui; Zheng, Xiang-Chi; Hu, Yan-Zhen; Liu, Yun-Rong

2013-07-01

To describe the epidemiological characteristics of selected congenital limb malformations (CLM) in newborns of Hengyang. During the period of 2008-2010, cluster sampling survey was adopted to investigate the congenital limb malformations of neonates born to women resident in Hengyang, including Nanyue District, Zhuhui District, Changning City and Hengshan County. Each newborn was examined for the screening of CLM after birth. Limb malformations were grouped into the isolated (ILM) and the syndromic (SLM) form, depending on associated malformations of the affected. Prevalence rates, CLM spectrum and clinical manifestations were analyzed. A total of 170 CLM cases were identified among 52,307 newborns during the study period, resulting overall rate of 32.50/10(4). The rates for isolated and syndromic CLM were 28.29 and 4.21 per 10 000 births respectively. The rates for polydactyly, congenital talipes equinovarus, syndactyly and limb reduction defects were 13.00/10(4), 9.56/10(4), 5.16/10(4) and 3.63/10(4), respectively. No significant difference in rates of overall CLM or specified CLM was observed across urban-rural, gender and maternal age groups. Of the cases affected by polydactyly, syndactyly and limb reduction defects, malformation involved upper limbs, lower limbs and the both accounted for 68.14%, 14.16% and 17.70%. Preterm birth, low birth-weight, still birth and neonatal death were observed more frequently in syndromic cases than in isolated patients. The high CLM prevalence rate and fatality rate in Hengyang suggest that effective measures should be taken to prevent malformations and to improve survival of the affected.

Posterior fossa malformations: main features and limits in prenatal diagnosis

Energy Technology Data Exchange (ETDEWEB)

Garel, Catherine [Hopital d' Enfants Armand-Trousseau, Department of Radiology, Paris (France)

2010-06-15

Posterior fossa (PF) malformations are commonly observed during prenatal screening. Their understanding requires knowledge of the main steps of PF development and knowledge of normal patterns in US and MR imaging. The vast majority of PF malformations can be strongly suspected by acquiring a midline sagittal slice and a transverse slice and by systematically scrutinizing the elements of the PF: cerebellar vermis, hemispheres, brainstem, fourth ventricle, PF fluid spaces and tentorium. Analysis of cerebellar echogenicity and biometry is also useful. This review explains how to approach the diagnosis of the main PF malformations by performing these two slices and answering six key questions about the elements of the PF. The main imaging characteristics of PF malformations are also reviewed. (orig.)

Contribuição ao estudo das malformações occipito-cervical, particularmente da impressão basilar

Directory of Open Access Journals (Sweden)

Horacio M. Canelas

1952-12-01

Full Text Available The authors outline the development of the spine and skull, particularly of axis, atlas and occipital bone. As neuro-skeletal dysmorphisms, the occipito-cervical malformations belong to the neurodysplastic group. They are classified as skeletal anomalies, associated nervous malformations and meningeal reactions. Vertebralization of the occipital bone and occipitalization of atlas, subluxation of odontoid process, dysplasia of the occipital bone, dystrophia brevicollis and other anomalies are discussed. Special care is given to the study of basilar impression; its concept, history, incidence, clinical and neurological symptoms, radiological characterization (craniographic, perimyelographic and iodoventriculographic aspects and surgical treatment are reviewed. The authors report five cases of occipito-cervical malformations, which are the first references in Brazilian literature. In case 1 the anomalies (manifestation of occipital vertebra and Arnold-Chiari deformity were disclosed at an operation for cisticercosis of the posterior fossa. In the following four cases invagination of the basilar portion of the occipital bone (basilar impression could be radiologically demonstrated; in case 2 a suboccipital craniectomy and a laminectomy of atlas and axis were performed but the patient died a week later and the necroscopic examination confirmed the neuro-skeletal anomalies. In all cases there were several associated malformations. In case 2 there were occipitalization of the atlas, fusion of the first and second cervical vertebrae, supernumerary rib of the seventh cervical vertebra, supernumerary lumbar vertebra, and Arnold-Chiari deformity; at necropsy it was found a syringomyelic cyst on the cervical cord and a fibrous dural ring over the foramen magnum. Case 3 showed the syndrome of Klippel-Feil, besides supernumerary ribs of the seventh cervical and first dorsal vertebrae, Arnold-Chiari malfotmation and probable aplasia of cell groups in the

Urogenital tract anomalies in children with congenital anorectal malformation

NARCIS (Netherlands)

J.W. Hoekstra

1991-01-01

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

About kinetics of paramagnetic radiation malformations in beryllium ceramics

International Nuclear Information System (INIS)

Polyakov, A.I.; Ryabinkin, Yu.A.; Zashkvara, O.V.; Bitenbaev, M.I.; Petukhov, Yu.V.

1999-01-01

This paper [1] specifies that γ-radiation of the beryllium-oxide-based ceramics results in development of paramagnetic radiation malformations emerging the ESR spectrum in form of doublet with the splitting rate of oestrasid Δ∼1.6 and g-factor of 2.008. This report presents evaluation outcomes of dependence of paramagnetic radiation malformations concentration in beryllium ceramics on gamma-radiation dose ( 60 Co) within the range of 0-100 Mrad. Total paramagnetic parameters of beryllium ceramics in the range 0-100 Mrad of gamma-radiation dose varied slightly, and were specified by the first type of paramagnetic radiation malformations

Congenital bronchopulmonary foregut malformations: concepts and controversies

International Nuclear Information System (INIS)

Newman, Beverley

2006-01-01

This article addresses the scope, etiology, important associations and imaging features of congenital bronchopulmonary foregut malformations. Etiologic concepts, including airway obstruction and vascular anomalies, are highlighted. Technical imaging advances, especially CT and MR, have greatly enhanced our diagnostic abilities in evaluating these lesions; however, thorough and careful assessment of all aspects of the malformation is still necessary. Several specific lesions are discussed in more detail, particularly regarding controversial issues in classification, understanding, imaging and management. (orig.)

Congenital bronchopulmonary foregut malformations: concepts and controversies

Energy Technology Data Exchange (ETDEWEB)

Newman, Beverley [University of Pittsburgh School of Medicine and Children' s Hospital of Pittsburgh, Pittsburgh, PA (United States)

2006-08-15

This article addresses the scope, etiology, important associations and imaging features of congenital bronchopulmonary foregut malformations. Etiologic concepts, including airway obstruction and vascular anomalies, are highlighted. Technical imaging advances, especially CT and MR, have greatly enhanced our diagnostic abilities in evaluating these lesions; however, thorough and careful assessment of all aspects of the malformation is still necessary. Several specific lesions are discussed in more detail, particularly regarding controversial issues in classification, understanding, imaging and management. (orig.)

The role of MRI in suspected inner ear malformations

International Nuclear Information System (INIS)

Koesling, S.; Juettemann, S.; Amaya, B.; Rasinski, C.; Bloching, M.; Koenig, E.

2003-01-01

Purpose: This is a prospective analysis of the value of MRI in suspected inner ear malformations. Materials and Methods: In 50 patients (43 children and young adults, 7 adults) with suspected inner ear malformation MRI (1.5 T) was performed. In addition, 42 of these patients underwent CT. For the analysis of the inner ear structures, the constructive interference in steady state (CISS) sequence with 0.7 mm slice thickness was used. Functional tests revealed a sensorineural hearing loss or deafness in 82 temporal bones (TB) and a combined hearing loss in 4 TB. The hearing loss was unilateral in 14 patients. MRI and CT findings were compared. Results: Imaging findings were normal in 58 TB. The pathological findings included inner ear malformations (35 TB), inflammatory changes (4 TB), partial obliteration of labyrinth (2 TB) and congenital aural atresia (1 TB). An isolated absence of the cochlear nerve (1 TB) could only be found by MRI. In the remaining cases, an inner ear malformation was diagnosed by MRI and CT with the same confidence but MRI was superior in displaying the fine details. Conclusions: MRI will become the method of choice in the diagnosis of inner ear malformations. (orig.) [de

Classification of Cortical Brain Malformations

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J Gordon Millichap

2008-03-01

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

Angiographic treatment of the arteriovenous malformation occurred after caesarean section

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Selim Büyükkurt

2009-03-01

Full Text Available INTRODUCTION: Uterine arteriovenous malformations are classified as acquired or congenital. Caesarean section which is performed more frequently on nowadays, uterine curettage and other uterine surgeries are the most common causes of the acquired arteriovenous malformations. CASE: Twenty-two years old woman delivered her second child by caesarean section, due to history of caesarean section, was admitted with complaint of profuse vaginal bleeding 15 days after the surgery. She demonstrated the clinical features of the hypovolemic shock. At first she treated with four units of red blood suspension, two units of fresh frozen plasma and rapid infusion of the fluids. On endometrial curettage only blood and coagulum were obtained. The bleeding could only be controlled by the internal pressure of the 18 F Foley catheter. Doppler analyze of the uterus revealed a vascular malformation signifying a turbulent flow pattern with low pressure and high flow rate. A unilateral uterine artery embolization was performed her and her menstruel cycles are resumed at the fifth month of the puerperium. DISCUSSION: The clinical presentation of the uterine arteriovenous malformations depends on the localization and the dimensions of the malformation. The uterine arteriovenous malformation should be kept in mind in cases of late occurrence vaginal bleeding unresponsive to the uterotonic medications, especially in a woman with previous history of uterine damage, such as curettage or caesarean section.

Screening for pulmonary arteriovenous malformations

DEFF Research Database (Denmark)

Oxhøj, H; Kjeldsen, A D; Nielsen, G

2000-01-01

Pulmonary arteriovenous malformations (PAVM) cause right-to-left shunt and imply risk of paradoxical embolism and cerebral abscess. These complications can be prevented by appropriate treatment. Detection of PAVMs is therefore important, so simple and reliable screening methods are needed...... for this purpose. The aim of this investigation was to compare pulse oximetry and contrast echocardiography as screening tools for detection of pulmonary arteriovenous malformations. Eighty-five hereditary haemorrhagic telangiectasia (HHT) patients and first-degree relatives identified in a comprehensive study...... echocardiography with intravenous injection of echo contrast was performed in all subjects. Outcome measures were oxygen saturation change >2% units on changing body position and echo contrast observed in the left-sided heart chambers. Positive contrast echocardiography indicating the presence of PAVM was found...

Multiple congenital skeletal malformations in a lamb associated with ...

African Journals Online (AJOL)

Other malformations included patella absence, resulting in bowing of both fore and hind limbs with poorly developed muscles associated with these skeletal structure. Dystocia was believed to be a result of fetal monstrosity resulting in abnormal posture. The cause of the congenital malformations was not obvious ...

Percutaneous Sclerotherapy of Congenital Slow-Flow Vascular Malformations of the Orbit

Energy Technology Data Exchange (ETDEWEB)

Chiramel, George Koshy, E-mail: gkchiramel@gmail.com; Keshava, Shyamkumar Nidugala, E-mail: aparna-shyam@yahoo.com; Moses, Vinu, E-mail: vinu@cmcvellore.ac.in; Mammen, Suraj, E-mail: surajmammen77@gmail.com [Christian Medical College, Department of Radiology (India); David, Sarada, E-mail: saradadavid@gmail.com [Christian Medical College, Department of Ophthalmology (India); Sen, Sudipta, E-mail: paedsur@cmcvellore.ac.in [Christian Medical College, Department of Pediatric Surgery (India)

2015-04-15

PurposeThis manuscript describes the clinical features, imaging findings, treatment details, and short-term outcomes of a series of congenital slow-flow vascular malformations.MethodsThis was a prospective study of congenital slow-flow vascular malformations involving the orbital region treated at a single institution with percutaneous sclerotherapy.ResultsTen patients presented during the study period, comprising eight venous malformations, one lymphatic malformation, and one veno-lymphatic malformation. Nine patients underwent percutaneous sclerotherapy under digital subtraction angiography guidance, of which three developed marked rise in intraocular pressure requiring lateral canthotomy. The treatments were performed in the presence of an ophthalmologist who measured the intraorbital pressure during and after the procedure. On follow-up, some of the patients required repeat sessions of sclerotherapy. All patients had improvement of symptoms on follow up after the procedure.ConclusionCongenital slow-flow vascular malformations of the orbital region are rare lesions that should be treated using a multidisciplinary approach. Monitoring of the intraorbital pressure is required both during and after the procedure to decide about the need for lateral canthotomy to reduce the transiently increased intraorbital pressure.

Percutaneous Sclerotherapy of Congenital Slow-Flow Vascular Malformations of the Orbit

International Nuclear Information System (INIS)

Chiramel, George Koshy; Keshava, Shyamkumar Nidugala; Moses, Vinu; Mammen, Suraj; David, Sarada; Sen, Sudipta

2015-01-01

PurposeThis manuscript describes the clinical features, imaging findings, treatment details, and short-term outcomes of a series of congenital slow-flow vascular malformations.MethodsThis was a prospective study of congenital slow-flow vascular malformations involving the orbital region treated at a single institution with percutaneous sclerotherapy.ResultsTen patients presented during the study period, comprising eight venous malformations, one lymphatic malformation, and one veno-lymphatic malformation. Nine patients underwent percutaneous sclerotherapy under digital subtraction angiography guidance, of which three developed marked rise in intraocular pressure requiring lateral canthotomy. The treatments were performed in the presence of an ophthalmologist who measured the intraorbital pressure during and after the procedure. On follow-up, some of the patients required repeat sessions of sclerotherapy. All patients had improvement of symptoms on follow up after the procedure.ConclusionCongenital slow-flow vascular malformations of the orbital region are rare lesions that should be treated using a multidisciplinary approach. Monitoring of the intraorbital pressure is required both during and after the procedure to decide about the need for lateral canthotomy to reduce the transiently increased intraorbital pressure

Pattern of congenital brain malformations at a referral hospital in Saudi Arabia: An MRI study

International Nuclear Information System (INIS)

Alorainy, Ibrahim A.

2006-01-01

More than 2000 different congenital cerebral malformations have been described in the literature, for which several classification systems have been proposed. With the help of these classification systems, it is now possible, with neuroimaging, to time neuroembtyologic events. Magnetic resonance imaging (MRI), in particular, is useful in studying these malformations. This study evaluated the pattern of congenital brain malformations in a university referral hospital setting. The records of all MRI brain examinations at our hospital over a period of 3 years for children younger than 15 years of age were reviewed. Cases of congenital cerebral malformations were analyzed by sex, age at presentation, type of congenital cerebral malformation and other associated congenital cerebral malformations. Of the 808 MR examinations of different parts of the body for children in the study period, 719 (89%), on 581 patients, were of the brain. Eighty-six children (14.8%) were found to have single or multiple congenital brain malformations. In these children, 114 congenital brain malformations were identified, the commonest being cortical migrational defects (25 patients, 22%), neural tube closure defects (22 patients, 19%), and corpus callosum dysgenesis (22 patients 19%). The least common was vascular malformation. Sixteen patients (18.6%) had more than one congenital brain malformations. Neural tube closer defects, cortical migrational abnormalities, and corpus callosum anomalies were the commonest congenital brain malformations, while vascular malformations were the least common. Most of the identified malformations demonstrated the usual pattern, but a few showed unusual patterns and associations. (author)

Protective effect of selenium against ionizing radiation-induced malformations in mice

Energy Technology Data Exchange (ETDEWEB)

Cekan, E.; Tribukait, B.; Vokal-Borek, H.

A single dose of sodium selenite (0.5 mg Se/kg b.w.) was injected intraperitoneally into mice on day 9 of pregnancy, either 30 min or 2 h before 1.75 Gy whole body irradiation. Administration of selenite 2 h but not 30 min before irradiation resulted in a significant decrease in the number of malformed foetuses (p < 0.005). The decrease in foetal malformations occurred proportionally for all the major malformations observed, i.e. short or kinked tail, rib and vertebral malformations, coloboma and deformation of retina and iris. In addition, selenium pretreatment also protected against radiation-induced retardation of the sternum of the foetus.

Protective effect of selenium against ionizing radiation-induced malformations in mice

International Nuclear Information System (INIS)

Cekan, E.; Tribukait, B.; Vokal-Borek, H.; Stockholm Univ.

1985-01-01

A single dose of sodium selenite (0.5 mg Se/kg b.w.) was injected intraperitoneally into mice on day 9 of pregnancy, either 30 min or 2 h before 1.75 Gy whole body irradiation. Administration of selenite 2 h but not 30 min before irradiation resulted in a significant decrease in the number of malformed foetuses (p<0.005). The decrease in foetal malformations occurred proportionally for all the major malformations observed, i.e. short or kinked tail, rib and vertebral malformations, coloboma and deformation of retina and iris. In addition, selenium pretreatment also protected against radiation-induced retardation of the sternum of the foetus. (orig.)

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

Science.gov (United States)

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

2017-01-01

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

Siringomielia idiopática a propósito de un caso

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Marlon Martínez

2013-10-01

Full Text Available Title: Idiopathic syringomyelia: a case report.ResumenLa siringomielia es un trastorno que consiste en la formación de uno o varios quistes en la médula espinal, que generalmente inician en la región cervical y pueden extenderse hasta la región torácica o hacia el tronco encefálico. Su etiología es multifactorial, pudiendo ser secundaria a malformación de Arnold-Chiari, causas idiopáticas, y traumatismos. Las manifestaciones clínicas son variadas presentando un curso crónico-progresivo. Se presenta el caso de una mujer de 47 años de edad con diagnóstico de siringomielia cervicotorácica, cuya manifestación inicial fue inusual, aguda y progresiva, ameritando procedimiento quirúrgico con buenos resultados. Se discute sobre la presentación clínica atípica y las medidas terapéuticas quirúrgicas empleadas en éste caso. (DUAZARY 2012 No. 1, 60 - 64AbstractSyringomyelia is a disorder that involves the formation of one o more cysts in the spinal cord, usually begin in the cervical region and extend to the thoracic region or to the brain stem. The etiology is multifactorial and usually is secondarily to Arnold-Chiari malformation, idiopathic causes and trauma. These clinical manifestation are various with a progressive chronic course. The following case report is about a woman of 47 years old, whit diagnosis of cervico-thoracic syringomyelia, whose initial manifestation was unusual, acute and progressive; the patient requires Surgical Procedures with good results. In this case discussed about the clinical atypical presentation and the therapeutic surgical measures used in this case.Keywords: Syringomyelia; cysts; spinal cord; brain stem; Arnold-Chiari malformation; surgical procedures. (MeSH.

Percutaneous Cryotherapy of Vascular Malformation: Initial Experience

Energy Technology Data Exchange (ETDEWEB)

Cornelis, F., E-mail: francoiscornelis@hotmail.com [Institut Bergonie, Department of Radiology (France); Neuville, A. [Institut Bergonie, Department of Pathology (France); Labreze, C. [Pellegrin Hospital, Department of Pediatric Dermatology (France); Kind, M. [Institut Bergonie, Department of Radiology (France); Bui, B. [Institut Bergonie, Department of Oncology (France); Midy, D. [Pellegrin Hospital, Department of Vascular Surgery (France); Palussiere, J. [Institut Bergonie, Department of Radiology (France); Grenier, N. [Pellegrin Hospital, Department of Radiology (France)

2013-06-15

The present report describes a case of percutaneous cryotherapy in a 36-year-old woman with a large and painful pectoral venous malformation. Cryoablation was performed in a single session for this 9-cm mass with 24 h hospitalisation. At 2- and 6-month follow-up, the pain had completely disappeared, and magnetic resonance imaging demonstrated a significant decrease in size. Percutaneous cryoablation shows promise as a feasible and apparently safe method for local control in patients with symptomatic venous vascular malformations.

Percutaneous Cryotherapy of Vascular Malformation: Initial Experience

International Nuclear Information System (INIS)

Cornelis, F.; Neuville, A.; Labrèze, C.; Kind, M.; Bui, B.; Midy, D.; Palussière, J.; Grenier, N.

2013-01-01

The present report describes a case of percutaneous cryotherapy in a 36-year-old woman with a large and painful pectoral venous malformation. Cryoablation was performed in a single session for this 9-cm mass with 24 h hospitalisation. At 2- and 6-month follow-up, the pain had completely disappeared, and magnetic resonance imaging demonstrated a significant decrease in size. Percutaneous cryoablation shows promise as a feasible and apparently safe method for local control in patients with symptomatic venous vascular malformations.

Neurodevelopmental malformations of the cerebellar vermis in genetically engineered rats

Science.gov (United States)

The cerebellar vermis is particularly vulnerable to neurodevelopmental malformations in humans and rodents. Sprague-Dawley, and Long-Evans rats exhibit spontaneous cerebellar malformations consisting of heterotopic neurons and glia in the molecular layer of the vermis. Malformati...

Congenital ossicular malformation. A study of 27 ears

International Nuclear Information System (INIS)

Morioka, Shigefumi; Sakaguchi, Hirofumi; Taki, Masakatsu; Hyogo, Misako; Suzuki, Toshihiro; Hisa, Yasuo

2010-01-01

Despite otological surgerical progress improving clinical congenital ossicular malformation management, some cases remain inadequately treated. We report 27 cases of congenital ossicular malformation, focusing on reasons for remaining or delayed postoperative hearing loss evaluated in 27 congenital ossicular malformation cases in Kyoto Prefecture from 2002 to 2008. Overall success was 93% (25/27) 6 months postoperatively. Two ears had no hearing improvement and three delayed hearing loss 8 to 48 months postoperatively. The first two ears underwent small fenestration stapedotomy with malleus attachment piston, and the other three tympanoplasty type III using an autologous ossicle or total ossicular replacement prosthesis (TORP) as a columella. We discuss problems and solutions using a malleus attachment piston or prosthesis, preoperative audio- and radiological findings, and operative findings including facial nerve anomaly and congenital cholesteatoma. (author)

POSITION OF CEREBELLAR TONSILS IN REFERENCE TO FORAMEN MAGNUM: AN MRI STUDY

OpenAIRE

Lakshmi

2015-01-01

Normal position of the cerebellar tonsils is described to be at or above the foramen magnum. Western studies have shown the cerebellar tonsils to be below the foramen magnum. Position of tonsils is of great importance in assessing the hind brain deformity–Chiari malformation. There are no Indian studies to corroborate the findings. Hence, we proposed a basic study to find out the existence of tonsillar ectopia (Position of tonsils below the foramen magnum) in normal population. Ou...

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

International Nuclear Information System (INIS)

Ding Qingguo; Hu Chunhong; Guo Liang; Ding Yi

2000-01-01

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

Congenital Malformations Associated with Maternal Diabetes

Directory of Open Access Journals (Sweden)

Chih-Ping Chen

2005-03-01

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

Developmental malformations of the cerebral cortex

International Nuclear Information System (INIS)

Reiss-Zimmermann, Martin; Weber, D.; Sorge, I.; Hirsch, W.; Merkenschlager, A.

2010-01-01

Migration disorders (MD) are increasingly recognized as an important cause of epilepsy and developmental delay. Up to 25% of children with refractory epilepsy have a cortical malformation. MD encompass a wide spectrum with underlying genetic etiologies and clinical manifestations. Research regarding the delineation of the genetic and molecular basis of these disorders has provided greater insight into the pathogenesis of not only the malformation but also the process involved in normal cortical development. Diagnosis of MD is important since patients who fail three antiepileptic medications are less likely to have their seizures controlled with additional trials of medications and therefore epilepsy surgery should be considered. Recent improvements in neuroimaging have resulted in a significant increase in the recognition of MD. Findings can be subdivided in disorders due to abnormal neurogenesis, neuronal migration, neuronal migration arrest and neuronal organization resulting in different malformations like microcephaly, lissencephaly, schizencephaly and heterotopia. The examination protocol should include T1-w and T2-w sequences in adequate slice orientation. T1-w turbo-inversion recovery sequences (TIR) can be helpful to diagnose heterotopia. Contrast agent is needed only to exclude other differential diagnoses. (orig.)

Surgical excision of a cerebral arteriovenous malformation in a dog

International Nuclear Information System (INIS)

Thomas, W.B.; Schueler, R.O.; Kornegay, J.N.

1995-01-01

A 7-year-old dog was presented with seizures and epistaxis. Computed tomography showed a contrast-enhancing lesion in the cerebrum. An arteriovenous malformation was identified at surgery and resected. A discussion of intracranial arteriovenous malformation is presented

Magnetic resonance venography of congenital vascular malformations of the extremities

International Nuclear Information System (INIS)

Laor, T.; Burrows, P.E.; Hoffer, F.A.

1996-01-01

Contrast angiography can demonstrate the vascular components of a vascular malformation, but can be technically challenging in small patients with complex venous anomalies. We reviewed the role of magnetic resonance venography (MRV) in the evaluation of children with predominantly low-flow, vascular malformations of the extremities. MRV (2D time-of-flight technique) and magnetic resonance (MR) imaging examinations were performed in ten young patients with congential predominantly low-flow vascular malformations of the extremities. MR imaging was used to characterize and determine the extent of the malformations, and MRV to evaluate the deep and superficial venous channels. In all patients, MRV studies were reviewed in conjunction with contrast angiograms, considered the gold standard, to confirm the findings. All signficant channel anomalies seen with contrast angiography were identified with MRV. In addition, MRV demonstrated some veins that were not intentionally opacified during contrast studies. MRV demonstrates both the superficial and deep conducting veins, whereas contrast angiography is a more directed study, evaluating only those channels intentionally opacified. Together, MR imaging and MRV data can non-invasively form the basis for determining the prognosis and choosing the individual treatment of congenital vascular malformations of the extremities. (orig.)

Perinatal risk factors including malformation

International Nuclear Information System (INIS)

Brachner, A.; Grosche, B.

1991-10-01

The study gives a survey of the factors most frequently mentioned in the literature as factors likely to adversely affect a pregnancy. One essential aspect is the discussion of those factors that can be counted among the causes of malformations, as among others, prenatal radiation exposure. The study prepared within the framework of the research project 'Radiobiological environmental monitoring in Bavaria' is intended to serve as a basis for a retrospective and prospective evaluation of infant mortality, perinatal conditions and occurrence of malformations in Bavaria, with the principal idea of drawing up an environment - related health survey. The study therefore, in addition to ionizing radiation also takes into account other detectable risks within the ecologic context, as e.g. industrial installations, refuse incineration plants or waste dumps, or urbanity. (orig./MG) [de

[Management of occult malformations at the lateral skull base].

Science.gov (United States)

Bryson, E; Draf, W; Hofmann, E; Bockmühl, U

2005-12-01

Occult malformations of the lateral skull base are rare anomalies, but can cause severe complications such as recurrent meningitis. Therefore, they need to be precisely delineated and sufficient surgical closure is mandatory. Between 1986 and 2004 twenty patients (10 children and 10 adults) with occult malformations at the lateral skull base were treated surgically at the ENT-Department of the Hospital Fulda gAG. Of these 3 Mondini-malformations, 11 defects of the tegmen tympani or the mastoidal roof, 2 dural lesions to the posterior fossa and 4 malformations within the pyramidal apex have been found. Four patients have had multiple anomalies. Routing symptom was in all cases at least one previous meningitis. Radiological diagnostics included high-resolution computed tomography (CT) and magnetic resonance imaging (MRI) as well as CT- or MR-cisternography. Depending on type and localisation of the defect the following surgical algorithm was carried out: The trans-mastoidal approach was used in all cases of Mondini-malformation (including obliteration of the ear), in case of lesions to the posterior fossa as well as partly in anomalies at the tegmen tympani and mastoidal roof, respectively. Defects of the pyramidal apex should be explored via the trans-mastoidal way if the lesion is located caudally to the inner auditory canal (IAC), whereas the trans-temporal approach should be used if the lesion is situated ventral to the IAC and dorso-medially to the internal carotid artery (ICA). The trans-temporal approach was also performed in large defects of the tegmen tympani and mastoidal roof as well as in recurrences. In all cases of recurrent meningitis caused by agents of the upper airway tract the basic principle should be to search for occult skull base malformations radiologically as well as by sodium fluorescein endoscopy as long as the anomaly is detected.

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

Science.gov (United States)

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

2011-11-01

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

Imaging findings and therapeutic alternatives for peripheral vascular malformations

International Nuclear Information System (INIS)

Monsignore, Lucas Moretti; Nakiri, Guilherme Seizem; Santos, Daniela dos; Abud, Thiago Giansante; Abud, Daniel Giansante

2010-01-01

Peripheral vascular malformations represent a spectrum of lesions that appear through the lifetime and can be found in the whole body. Such lesions are uncommon and are frequently confounded with infantile hemangioma, a common benign neoplastic lesion. In the presence of such lesions, the correlation between the clinical and radiological findings is extremely important to achieve a correct diagnosis, which will guide the best therapeutic approach. The most recent classifications for peripheral vascular malformations are based on the blood flow (low or high) and on the main vascular components (arterial, capillary, lymphatic or venous). Peripheral vascular malformations represent a diagnostic and therapeutic challenge, and complementary methods such as computed tomography, Doppler ultrasonography and magnetic resonance imaging, in association with clinical findings can provide information regarding blood flow characteristics and lesions extent. Arteriography and venography confirm the diagnosis, evaluate the lesions extent and guide the therapeutic decision making. Generally, low flow vascular malformations are percutaneously treated with sclerosing agents injection, while in high flow lesions the approach is endovascular, with permanent liquid or solid embolization agents. (author)

Transcatheter arterial ethanol embolization for congenital renal arteriovenous malformations

International Nuclear Information System (INIS)

Wang Jingbing; Wang Han; An Xiao; Wang Linchuan; Gao Liqiang; Zhou Zhiguo; Zhang Guixiang

2010-01-01

Objective: To discuss the effect and safety of trans-microcatheter arterial embolization with ethanol for the treatment of congenital renal arteriovenous malformations. Methods: Clinical data of 11 patients with congenital renal arteriovenous malformations manifested mainly as gross hematuria were retrospectively analyzed. Selective renal angiography was performed in all 11 patients. After the diagnosis was confirmed, super-selective catheterization of the diseased arteries was carried out and the trans-microcatheter arterial embolization with ethanol was conducted. Results: A total of 12 procedures were completed in 11 patients. The ethanol dose used in one procedure was 5-25 ml. Successful embolization of the congenital renal arteriovenous malformations was obtained in all patients. The gross hematuria disappeared within 24-48 hours after the treatment. Lumbago at treated side, low fever, abdominal distension, nausea, vomiting, etc. occurred within one week and no other serious complications developed. During the follow-up period lasting for 4-96 months, no recurrence of hematuria was observed and the renal function remained normal. Conclusion: Transcatheter arterial ethanol embolization is an economic, safe and effective treatment for congenital renal arteriovenous malformations. (authors)

Síndrome de Budd-Chiari. Avances en el conocimiento de su fisiopatología y nuevas estrategias terapeuticas

OpenAIRE

Hernández Guerra de Aguilar, Manuel

2006-01-01

El síndrome de Budd-Chiari (SBC) es una enfermedad poco frecuente que no obstante afecta a población joven con una alta morbimortalidad. A pesar del gran esfuerzo investigador realizado, quedan aún por hacer avances en el conocimiento fisiopatológico y en el ámbito terapéutico, ambos estrechamente vinculados, que mejoren el pronóstico de estos enfermos. Sin embargo, la baja incidencia de esta enfermedad ha dificultado la realización de estudios prospectivos y la obtención de resultados de in...

Maxillo-nasal dysplasia (Binder syndrome) and associated malformations of the cervical spine

International Nuclear Information System (INIS)

Olow-Nordenram, M.A.K.; Raadberg, C.T.

1984-01-01

Forty-three patients with maxillo-nasal dysplasia have been subjected to a radiographic examination of the cervical spine. In 44.2 per cent malformations of the cervical vertebrae of a minor or major type were revealed. Dysplasia of the vertebral bodies related to persistence of the chorda dorsalis, a very rare malformation, was found in six cases. No correlation between the incidence or serverity of the malformations and the degree of malocclusion of the jaws and facial deformity, characteristic of Binder syndrome, were noted. The maxillo-nasal dysplasia and the spinal malformations probably have a common cause during the embryologic stage. (orig.)

Maxillo-nasal dysplasia (Binder syndrome) and associated malformations of the cervical spine

Energy Technology Data Exchange (ETDEWEB)

Olow-Nordenram, M.A.K.; Raadberg, C.T.

1984-01-01

Forty-three patients with maxillo-nasal dysplasia have been subjected to a radiographic examination of the cervical spine. In 44.2 per cent malformations of the cervical vertebrae of a minor or major type were revealed. Dysplasia of the vertebral bodies related to persistence of the chorda dorsalis, a very rare malformation, was found in six cases. No correlation between the incidence or serverity of the malformations and the degree of malocclusion of the jaws and facial deformity, characteristic of Binder syndrome, were noted. The maxillo-nasal dysplasia and the spinal malformations probably have a common cause during the embryologic stage.

Fetal magnetic resonance imaging of thoracic and abdominal malformations

International Nuclear Information System (INIS)

Woitek, R.; Asenbaum, U.; Furtner, J.; Prayer, D.; Brugger, P.C.

2013-01-01

Diagnosis and differential diagnosis of fetal thoracic and abdominal malformations. Ultrasound and magnetic resonance imaging (MRI). In cases of suspected pathologies based on fetal ultrasound MRI can be used for more detailed examinations and can be of assistance in the differential diagnostic process. Improved imaging of anatomical structures and of the composition of different tissues by the use of different MRI sequences. Fetal MRI has become a part of clinical routine in thoracic and abdominal malformations and is the basis for scientific research in this field. In cases of thoracic or abdominal malformations fetal MRI provides important information additional to ultrasound to improve diagnostic accuracy, prognostic evaluation and surgical planning. (orig.) [de

Classification and Current Management of Inner Ear Malformations

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Levent Sennaroğlu

2017-10-01

Full Text Available Morphologically congenital sensorineural hearing loss can be investigated under two categories. Majority of the congenital hearing loss (80% are membranous malformations. Here the pathology involves inner ear hair cells. There is no gross bony abnormality and therefore, in these cases, high resolution computerized tomography and MRI of the temporal bone reveal normal findings. Remaining 20% have various malformations involving the bony labyrinth and therefore, can be radiologically demonstrated by CT and MRI. The latter group involves surgical challenges as well as problems in decision making. Some cases may be managed by hearing aid, some need cochlear implantation while some cases are candidates for an auditory brainstem implantation. During cochlear implantation, there may be facial nerve abnormalities, cerebrospinal fluid leakage, electrode misplacement or difficulty in finding the cochlea itself. During the surgery for inner ear malformations, surgeon must be ready to modify the surgical approach or choose special electrodes for surgery. In the present review article inner ear malformations are classified according to the differences observed in the cochlea. Hearing and language outcome after various implantation methods is closely related to the status of cochlear nerve and a practical classification of the cochlear nerve deficiency is also provided

First approximation to congenital malformation rates in embryos and hatchlings of sea turtles.

Science.gov (United States)

Bárcenas-Ibarra, Annelisse; de la Cueva, Horacio; Rojas-Lleonart, Isaias; Abreu-Grobois, F Alberto; Lozano-Guzmán, Rogelio Iván; Cuevas, Eduardo; García-Gasca, Alejandra

2015-03-01

Congenital malformations in sea turtles have been considered sporadical. Research carried out in the Mexican Pacific revealed high levels of congenital malformations in the olive ridley, but little or no information is available for other species. We present results from analyses of external congenital malformations in olive ridley, green, and hawskbill sea turtles from Mexican rookeries on the Pacific coast and Gulf of Mexico. We examined 150 green and hawksbill nests and 209 olive ridley nests during the 2010 and 2012 nesting seasons, respectively. Olive ridley eggs were transferred to a hatchery and incubated in styrofoam boxes. Nests from the other two species were left in situ. Number of eggs, live and dead hatchlings, and eggs with or without embryonic development were registered. Malformation frequency was evaluated with indices of prevalence and severity. Mortality levels, prevalence and severity were higher in olive ridley than in hawksbill and green sea turtles. Sixty-three types of congenital malformations were observed in embryos, and dead or live hatchlings. Of these, 38 are new reports; 35 for wild sea turtles, three for vertebrates. Thirty-one types were found in hawksbill, 23 in green, and 59 in olive ridley. The head region showed a higher number of malformation types. Malformation levels in the olive ridley were higher than previously reported. Olive ridleys seem more prone to the occurrence of congenital malformations than the other two species. Whether the observed malformation levels are normal or represent a health problem cannot be currently ascertained without long-term assessments. © 2015 Wiley Periodicals, Inc.

Epizootic of ovine congenital malformations associated with Schmallenberg virus infection

NARCIS (Netherlands)

Brom, van der R.; Luttikholt, S.J.; Lievaart-Peterson, K.; Peperkamp, N.H.M.T.; Mars, M.H.; Poel, van der W.H.M.; Vellema, P.

2012-01-01

Epizootic outbreaks of congenital malformations in sheep are rare and have, to the best of our knowledge, never been reported before in Europe. This paper describes relevant preliminary findings from the first epizootic outbreak of ovine congenital malformations in the Netherlands. Between 25

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

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

2016-12-21

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

Factor V Leiden mutation, prothrombin gene mutation, and deficiencies in coagulation inhibitors associated with Budd-Chiari syndrome and portal vein thrombosis: results of a case-control study

NARCIS (Netherlands)

Janssen, H. L.; Meinardi, J. R.; Vleggaar, F. P.; van Uum, S. H.; Haagsma, E. B.; van der Meer, F. J.; van Hattum, J.; Chamuleau, R. A.; Adang, R. P.; Vandenbroucke, J. P.; van Hoek, B.; Rosendaal, F. R.

2000-01-01

In a collaborative multicenter case-control study, we investigated the effect of factor V Leiden mutation, prothrombin gene mutation, and inherited deficiencies of protein C, protein S, and antithrombin on the risk of Budd-Chiari syndrome (BCS) and portal vein thrombosis (PVT). We compared 43 BCS

Factor V Leiden mutation, prothrombin gene mutation, and deficiencies in coagulation inhibitors associated with Budd-Chiari syndrome and portal vein thrombosis : results of a case-control study

NARCIS (Netherlands)

Janssen, HLA; Meinardi, [No Value; Vleggaar, FP; van Uum, SHM; Haagsma, EB; van der Meer, FJM; van Hattum, J; Chamuleau, RAFM; Adang, RP; Vandenbroucke, JP; van Hoek, B; Rosendaal, FR

2000-01-01

In a collaborative multicenter case-control study, we investigated the effect of factor V Leiden mutation, prothrombin gene mutation, and inherited deficiencies of protein C, protein S, and antithrombin on the risk of Budd-Chiari syndrome (BCS) and portal vein thrombosis (PVT), We compared 43 BCS

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

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Jamila Chahed

2011-01-01

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

Liquid nitrogen cryotherapy for lip mucous membrane venous malformation in infants.

Science.gov (United States)

Zhang, Da-Ming; Wang, You-Yuan; Lin, Zhao-Yu; Yang, Zhao-Hui; Chen, Wei-Liang

2015-03-01

Lip mucous membrane venous malformations are common benign lesions in infants. This clinical study evaluates the efficacy and safety of liquid nitrogen cryotherapy used to treat this condition. A total of 84 pediatric patients undergoing liquid nitrogen cryotherapy for venous malformations involving the lips were reviewed, with 45 males and 39 females treated. The overall median age at mucous membrane venous malformation diagnosis was 5.6 months (range 2-18 months). The venous malformations involved the vermilion of the lower lip in 44 cases, the vermilion of the upper lip in 31 cases, and both vermilions in 9 cases. No complications due to anesthesia occurred. After a follow-up period of 2-38 months (mean 25 months), 65 lesions (77.4 %) were completely involuted, 14 lesions (16.7 %) were mostly involuted, and 5 lesions (5.9 %) were partially involuted; no lesions showed a minor amount of involution. Liquid nitrogen cryotherapy is an effective, simple, and safe management tool for mucous membrane venous malformations of the lip in infants.

A gene prenature ovarian failure associated with eyelid malformation maps to chromosomes 3q22-q23

Energy Technology Data Exchange (ETDEWEB)

NONE

1996-05-01

Premature ovarian failure and XX gonadal dysgenesis leading to female infertility have been reported in association with an autosomal dominantly inherited malformation of the eyelids: blepharophimosis-ptosis-epicanthus inversus syndrome (BPES; MIM 110100). This association distinguishes BPES type I from BPES type II, in which affected females are fertile and the transmission occurs through both sexes. Recently, a gene responsible for BPES type II has been mapped to chromosome 3q22-q23, and the critical region for the gene location has been reduced to the interval between loci D3S1615 and D3S1316. Hitherto, however, no information regarding the localization of the gene for BPES type I, in which female ovarian failure is associated with eyelid malformation, has been available. We have studied two independent families affected with BPES type I, including a total of 12 affected individuals (6 infertile women) and 6 healthy relatives. The diagnostic criteria for the ophthalmological anomaly included (1) reduced horizontal diameter of palpebral fissures, (2) drooping of the upper eyelids, and (3) an abnormal skinfold running from the lower lids. Telecanthus and a flat nasal bridge were present in most cases. In both families the disease was transmitted only by the male, and no affected woman of childbearing age was fertile. 12 refs., 2 figs., 1 tab.

Congenital non-central nervous system malformations in cerebral palsy: a distinct subset?

Science.gov (United States)

Self, Lauren; Dagenais, Lynn; Shevell, Michael

2012-08-01

The aim of this article was to identify and contrast the subset of children with cerebral palsy (CP) and non-central nervous system (CNS) congenital malformations with children with CP but no coexisting non-CNS congenital malformations. A population-based regional comprehensive CP registry was used to identify children with CP who had non-CNS congenital malformations (n = 34; 19 males, 15 females; 22 classified as Gross Motor Function Classification System [GMFCS] levels I-III, 12 as GMFCS level IV or V). Their clinical features were then compared with other children with CP without non-CNS congenital malformations (n = 207; 115 males, 92 females; 138 classified as GMFCS levels I-III, 69 as GMFCS level IV or V). Children with CP and non-CNS congenital malformations did not differ from those without in terms of neurological subtype distribution or functional severity, as measured by the GMFCS. Also, there was no association with previous maternal infections (i.e. toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus 2 [TORCH]), maternal fever, use of illicit substances, asphyxia, neonatal encephalopathy, intraventricular haemorrhage, or septicaemia. The incidence of comorbidities such as convulsions, communication difficulties, gavage feeding, cortical blindness, and auditory impairment was not higher in this subgroup. The incidence of congenital non-CNS malformations among children with CP is appreciable. Children with these non-CNS malformations do not appear to differ from other children with CP regarding neurological subtype, functional severity, and comorbidities, or maternal or obstetrical factors. Thus, the specific presence of a non-CNS congenital malformation does not appear to assist the practitioner in the management or understanding of a child's CP. © The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.

Developmental biology and the study of malformations.

Science.gov (United States)

Hughes, A F

1976-05-01

Experimental work on abnormal conditions of incubation in the chick has been undertaken to acquire a scientific approach to malformations. More precise experiments on causing abnormalities had a common origin with experimental embryology. Progress in experimental teratology during the last 50 years is reviewed in a commentary on the 4 principles formulated by Stockard in 1921. The results of cytogenetical studies in man and in other organisms have led to the tracing of some relationships between them. Present knowledge concerning malformations of the neural tube, originating either experimentally, spontaneously, or phenotypically, has been presented and the teratological implications of some recent theories on the expression of the genotype are discussed in particular reference to problems of hormones as teratogens, the implication of carbohydrate metabolism, and teratogenesis. It is speculated that teratogenesis is possibly related to cationic balance in early development and that 1 factor retarding progress in the understanding of malformations is the tendency toward the development of teratology in an adequately close relationship with other branches of cell biology.

Herniation of the cerebellar tonsils after suprasellar arachnoid cyst shunt: case report Herniação das tonsilas cerebelares após shunt de cisto aracnóide supra-selar: relato de caso

Directory of Open Access Journals (Sweden)

Rodrigo Mendonça

2006-06-01

Full Text Available It is known that the caudal dislocation of the cerebellar tonsils may occur associated with clinical conditions such as an intracranial mass lesion or Chiari I and II malformation. It may also be acquired after repeated lumbar punctures or lumboperitoneostomy. The occurrence of cerebellar herniation after derivation of intracranial arachnoid cyst is extremely rare, and there are only three cases reported in the medical literature. We present the case of a 9-year-old boy with precocious puberty and suprasellar arachnoid cyst who developed a symptomatic herniation of the cerebellar tonsils three years after a cystoperitoneostomy. The patient underwent a suboccipital craniectomy with duraplasty and partial tonsilectomy, showing afterwards, remission of the symptoms. We discussed the pathogenesis suggested in the literature.Sabe-se que o deslocamento caudal das tonsilas cerebelares pode ocorrer em associação com condições clínicas tais como: lesão expansiva intracraniana ou malformação de Chiari I e II. Pode ainda ser adquirido após repetidas punções lombares ou lomboperitoniostomia. A ocorrência de herniação cerebelar após derivação de cisto aracnóide intracraniano é evento extremamente raro, existindo apenas três casos relatados na literatura médica. O caso de menino de 9 anos de idade, com puberdade precoce e cisto aracnóide supra-selar, que desenvolveu herniação sintomática das tonsilas cerebelares três anos após cistoperitoniostomia. O paciente foi submetido a craniectomia suboccipital com plástica dural e tonsilectomia parcial, apresentando remissão dos sintomas. Discutimos a patogênese sugerida na literatura.

Budd-Chiari syndrome and secondary nodular regenerative hyperplasia of the liver. Case report with special reference to diagnostic imaging

International Nuclear Information System (INIS)

Mutze, A.; Rueckert, R.; Rudolph, B.; Paris, S.; Podrabski, P.

1993-01-01

Nodular regenerative hyperplasia is a benign epithelial proliferation of the liver with unknown etiology. We observed a female patient with Budd-Chiari syndrome and secondary nodular regenerative hyperplasia of the liver over a period of five years. Patient history, diagnostic imaging (sonography, CT, MR imaging, angiography), and clinical course are demonstrated along with results of macroscopic and microscopic studies of explanted liver prior to liver transplantation. The patient presented with various predisposing factors in combination that favour the development of nodular regenerative hyperplasia. (orig.) [de

Valproic acid monotherapy in pregnancy and major congenital malformations

DEFF Research Database (Denmark)

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

2010-01-01

The use of valproic acid in the first trimester of pregnancy is associated with an increased risk of spina bifida, but data on the risks of other congenital malformations are limited.......The use of valproic acid in the first trimester of pregnancy is associated with an increased risk of spina bifida, but data on the risks of other congenital malformations are limited....

Intramuscular vascular malformations of an extremity: findings on MR imaging and pathologic correlation

International Nuclear Information System (INIS)

Kim, E.Y.; Ahn, J.M.; Yoon, H.K.; Do, Y.S.; Kim, S.H.; Choo, S.W.; Choo, I.W.; Suh, Y.L.; Kim, S.M.; Kang, H.S.

1999-01-01

Objective. To analyze the findings of intramuscular vascular malformations of an extremity on MR imaging and to correlate these findings with histopathologic examination.Design and patients. The findings on MR imaging and the medical records of 14 patients with an intramuscular vascular malformation of the extremity were retrospectively studied. All patients underwent surgical excision. Diagnoses were based on the results of pathologic examination. Findings on MR imaging were noted and correlated with the histopathologic findings.Results. Intramuscular vascular malformations of an extremity showed multi-septate, honeycomb, or mixed appearance on MR imaging. Multi-septate areas correlated with dilated and communicating vascular spaces with flattened endothelium. Honeycomb areas corresponded to vascular spaces with inconspicuous small lumina and thickened vascular walls. Areas of increased signal intensity on T2-weighted images were found in all intramuscular vascular malformations. Infiltrative margins were more commonly seen in intramuscular lymphaticovenous malformations. Adherence to neurovascular structures and orientation of the lesion along the long axis of the affected muscle were more commonly seen in intramuscular venous malformations.Conclusions. Intramuscular vascular malformations showed either a multi-septate, honeycomb, or mixed appearance, reflecting the size of the vascular spaces and the thickness of the smooth muscles of the vessel walls. Prediction of the subtype of an intramuscular vascular malformation of an extremity on MR imaging seems to be difficult, although there are associated findings that may be helpful in the differential diagnosis of each subtype. (orig.)

Congenital pulmonary airway malformation in a 36 year-old female

OpenAIRE

Barreiro, Timothy J.; Henn, Lucas; Ingnam, Sisham; Sypert, Michael

2015-01-01

Congenital pulmonary airway malformation (CPAM), previously known as congenital cystic adenomatoid malformation (CCAM), is an inborn abnormality of the lower respiratory system. Most often diagnosed in the perinatal period, these anomalies usually present with tachypnea, cyanosis, and respiratory distress. However, rare cases are asymptomatic and undiagnosed until adulthood.

[Multi-channel cochlear implants in patients with Mondini malformation].

Science.gov (United States)

Li, Yong-xin; Han, De-min; Zhao, Xiao-tian; Chen, Xue-qing; Kong, Ying; Zheng, Jun; Liu, Bo; Liu, Sha; Mo, Ling-yan; Zhang, Hua; Wang, Shuo

2004-02-01

To describe clinical experiences with multi-channel cochlear implantation in patients with Mondini malformation. Among 300 patients who received multi-channel cochlear implants from 1996 to 2002 in Beijing Tongren Hospital, 15 patients were diagnosed with Mondini malformation. A retrospective analysis was performed dealing with the surgical techniques, mapping and rehabilitations characteristics after surgery. 15 patients with normal cochlear structure are consider as control group. Gusher is found more common than the normal cochlear implantation, most of them are serious. The electrodes are inserted in the "cochleostomy" in full length of 13 Patients, 2 pairs of electrodes remains outside of "cochleostomy" in 2 patients. No serious complications occurred after implantation. All patients have auditory sensations. The impedance of the electrodes, the T level, C level and the hearing threshold are similar with the normal cochlear implantation group. The results have no significant difference in compare with normal cochlear group(P > 0.05). Multi-channel cochlear implantation could be performed safely in patients with Mondini malformation. The primary outcome for patients with Mondini malformation are similar to those with normal cochlear structure following the multi-channel cochlear implantation.

Three-dimensional spiral CT of craniofacial malformations in children

International Nuclear Information System (INIS)

Binaghi, S.; Gudinchet, F.

2000-01-01

Objective. To assess the value of three-dimensional CT (3D CT) in the diagnosis and management of suspected paediatric craniofacial malformations. Materials and methods. Twenty-eight children (12 girls, 16 boys) with a mean age of 4 years, suffering from craniofacial or cervical malformations, underwent craniofacial spiral CT. 3D reformatting was performed using an independent workstation. Results. 3D CT allowed the preoperative evaluation of 16 patients with craniosynostosis and the post-surgical management of 2 patients. 3D CT clearly depicted malformations of the skull base involving the petrous bone in seven patients (four cases of Goldenhar-Gorlin syndrome, one case of Treacher-Collins syndrome and two cases of Crouzon's disease). Four patients with craniofacial clefts were also evaluated. Radiological findings were confirmed by the clinical and intraoperative findings in all patients that underwent surgical treatment. Movement artefacts and ''Lego effect'' related to abrupt change of cranial vault border were encountered and are discussed. Conclusions. 3D CT of the skull can safely and reliably identify paediatric craniofacial malformations involving bone, and it should be used as morphological mapping to help the surgeon in planning surgical treatment. (orig.)

Congenital Auricular Malformations: Description of Anomalies and Syndromes.

Science.gov (United States)

Bartel-Friedrich, Sylva

2015-12-01

Half of the malformations in the ear, nose, and throat region affect the ear. Malformations of the external ear (pinna or auricle with external auditory canal [EAC]) are collectively termed microtia. Microtia is a congenital anomaly that ranges in severity from mild structural abnormalities to complete absence of the external ear (anotia). Microtia occurs more frequently in males (∼2 or 3:1), is predominantly unilateral (∼70-90%), and more often involves the right ear (∼60%). The reported prevalence varies geographically from 0.83 to 17.4 per 10,000 births. Microtia may be genetic (with family history, spontaneous mutations) or acquired. Malformations of the external ear can also involve the middle ear and/or inner ear. Microtia may be an isolated birth defect, but associated anomalies or syndromes are described in 20 to 60% of cases, depending on study design. These generally fit within the oculo-auriculo-vertebral spectrum; defects are located most frequently in the facial skeleton, facial soft tissues, heart, and vertebral column, or comprise a syndrome (e.g., Treacher Collins syndrome). Diagnostic investigation of microtia includes clinical examination, audiologic testing, genetic analysis and, especially in higher grade malformations with EAC deformities, computed tomography (CT) or cone-beam CT for the planning of surgery and rehabilitation procedures, including implantation of hearing aids. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

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

International Nuclear Information System (INIS)

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

1997-01-01

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

Utility of the angio resonance in the diagnose of the vascular malformations

International Nuclear Information System (INIS)

Delgado de B, Jorge Andres; Pulgarin, Luis German; Toro, Nancy; Bolivar Guillermo

1997-01-01

Vascular malformations (VMS) can be successfully evaluated with a combination of magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA). The MRA gives good anatomic information while the MRA gives important functional and complementary structural information. The main objectives in a radiological evaluation of the (VMS) is to offer data about the feeding arteries, size and location of the nidus of some malformation, the morphology and the type of venous drainage and other important features that may have therapeutic and prognostic value. From a total of 186 MRA performed in our institution (IATM) from January of 1994 to June 1996, we have diagnosed 17 vascular malformations, most of them categorized as arteriovenous malformations (11 cases) the others were developmental venous anomalies (5 cases of venous angiomas) and one case of a cavernous malformation. Previous imaging did not identify many of the VMS detected by MRA. MRI-MRA is the most sensitive and specific non-invasive method for the evaluation of this congenital lesion

Brain Vascular Malformation Consortium: Overview, Progress and Future Directions.

Science.gov (United States)

Akers, Amy L; Ball, Karen L; Clancy, Marianne; Comi, Anne M; Faughnan, Marie E; Gopal-Srivastava, Rashmi; Jacobs, Thomas P; Kim, Helen; Krischer, Jeffrey; Marchuk, Douglas A; McCulloch, Charles E; Morrison, Leslie; Moses, Marsha; Moy, Claudia S; Pawlikowska, Ludmilla; Young, William L

2013-04-01

Brain vascular malformations are resource-intensive to manage effectively, are associated with serious neurological morbidity, lack specific medical therapies, and have no validated biomarkers for disease severity and progression. Investigators have tended to work in "research silos" with suboptimal cross-communication. We present here a paradigm for interdisciplinary collaboration to facilitate rare disease research. The Brain Vascular Malformation Consortium (BVMC) is a multidisciplinary, inter-institutional group of investigators, one of 17 consortia in the Office of Rare Disease Research Rare Disease Clinical Research Network (RDCRN). The diseases under study are: familial Cerebral Cavernous Malformations type 1, common Hispanic mutation (CCM1-CHM); Sturge-Weber Syndrome (SWS); and brain arteriovenous malformation in hereditary hemorrhagic telangiectasia (HHT). Each project is developing biomarkers for disease progression and severity, and has established scalable, relational databases for observational and longitudinal studies that are stored centrally by the RDCRN Data Management and Coordinating Center. Patient Support Organizations (PSOs) are a key RDCRN component in the recruitment and support of participants. The BVMC PSOs include Angioma Alliance, Sturge Weber Foundation , and HHT Foundation International . Our networks of clinical centers of excellence in SWS and HHT, as well as our PSOs, have enhanced BVMC patient recruitment. The BVMC provides unique and valuable resources to the clinical neurovascular community, and recently reported findings are reviewed. Future planned studies will apply successful approaches and insights across the three projects to leverage the combined resources of the BVMC and RDCRN in advancing new biomarkers and treatment strategies for patients with vascular malformations.

Type II A2 duplication of urethra in an 8-month-old male child: A case report

Directory of Open Access Journals (Sweden)

Mehmet Hanifi Okur

2015-01-01

Full Text Available Urethral duplication is a rare congenital anomaly, usually found with multiple anatomical variants. In this article was presented a case of urethral duplication in an 8-month-old male child. The malformation was characterized by the presence of continent hypospadic and normal apical urethra. Retrograde urethrogram through both urethral tracts simultaneously revealed the malformation as Effmann Type II A-2. The accessory ventral urethra was excised without complication.

Congenital malformation of the systemic heart of Sepia officinalis l ...

African Journals Online (AJOL)

Numerous preparations of the circulatory system of Sepia officinalis L. caught from the Bay of Arcachon (Atlantic Coast of France) in 1989 and 1996 showed an obvious congenital malformation of the systemic heart complex. The malformation consisted of a cord- or truncus-like structure at the left cranio-apical ventricle.

Congenital malformations associated with assisted reproductive technology: a California statewide analysis.

Science.gov (United States)

Kelley-Quon, Lorraine I; Tseng, Chi-Hong; Janzen, Carla; Shew, Stephen B

2013-06-01

Management of congenital malformations comprises a large part of pediatric surgical care. Despite increasing utilization of assisted reproductive technology (ART) and fertility-related services (FRS), associations with birth defects are poorly understood. Infants born after ART or FRS were identified from the California Linked Birth Cohort Dataset from 2006 to 2007 and compared to propensity matched infants conceived naturally. Factors associated with major congenital malformations were evaluated using Firth logistic regression. With a cohort of 4,795 infants born after ART and 46,025 naturally conceived matched controls, major congenital malformations were identified in 3,463 infants. Malformations were increased for ART infants (9.0% vs. 6.6%, pmalformations overall (OR 1.25, 95% CI 1.12-1.39), specifically defects of the eye (OR 1.81, 95% CI 1.04-3.16), head and neck (OR 1.37, 95% CI 1.00-1.86), heart (OR 1.41, 95% CI 1.22-1.64), and genitourinary system (OR 1.40, 95% CI 1.09-1.82). The likelihood of birth defects was increased for multiples (OR 1.35, 95% CI 1.18-1.54) and not singletons. Odds of congenital malformation after FRS alone (n=1,749) were non-significant. ART contributes a significant risk of congenital malformation and may be more pronounced for multiples. Accurate counseling for parents considering ART and multidisciplinary coordination of care prior to delivery are warranted. Copyright © 2013 Elsevier Inc. All rights reserved.

[Cochlear implant in patients with congenital malformation of inner ear].

Science.gov (United States)

Han, Dong-yi; Wu, Wen-ming; Xi, Xin; Huang, De-liang; Yang, Wei-yan

2004-02-01

To study surgical difficulty and key of the cochlear implant in patients with congenital malformation of inner ear. The cochlear implantations were performed in our department from Jan. 2001 to Apr. 2003 for 18 patients with the malformation of inner ear. In this series, there were 11 cases of large vestibular aqueduct syndrome (LVAS), 3 cases of Waardenberg syndrome, 3 cases of Mondini malformation, and 1 case of Usher syndrome. All 18 patients accepted the Nucleus 24-channel cochlear implantations, including Nucleus straight electrode in 13 cases but Contour implantation in 5 cases of LVAS. During operations, leakage of perilymph but not cerebrospinal fluid (CSF) from the open of scala tympani occurred in 11 cases of LVAS, however, the electrode was inserted successfully. The abnormalities of round window occurred in one of 3 cases of Waardenberg syndrome and 3 cases of Mondini malformation, respectively. The cochlear implant could be conducted successfully for the LVAS, and the postoperative effect was same as the ones for the deafness persons with normal development of inner ear. However, for the patients with Mondini syndrome and common cavity, it is important to accurately assess the extent of abnormalities in the inner ear and accompanied malformation before operation, and to evaluate the full extent of difficulties of the operation in order to minimize the risk of CSF leakage and meningitis.

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

Science.gov (United States)

Louis, Nundia; Marsh, Robert

2016-02-09

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

Functional Magnetic Resonance Imaging in the Presurgical Evaluation of Brain Vascular Malformations

International Nuclear Information System (INIS)

Montes, Natalia; Herrera, Diego A; Vargas Sergio A

2010-01-01

Objective: To describe our experience in presurgical evaluation of intracranial vascular malformations by means of functional magnetic resonance (fMRI). Method: To evaluate eight patients with cerebral vascular malformations (seven arterio-venous malformation [AVM ] and one cavernous malformation) to send to the eloquent cortex with RMf pre-surgical mapping is assessed. Used a technique that is dependent on the level of oxygen (BOLD) to locate these areas in the cerebral vascular malformation, by applying different paradigms. Results: We found one AVM at the right temporal lobe with activation of the parahipocampal gyrus at the contralateral side using a memory paradigm; another patient with an AVM at the right mesotemporal lobe showed activation of visual and spatial memory of the contralateral hippocampus and parahippocampus. One patient with an AVM at the left parietal lobe without compromise of sensorial and motor cortex; a cavernous malformation at the left angular gyrus with hemispheric language dominance in that side; one right thalamic AVM, one periventricular AVM bilateral language dominance; one left occipital AVM with decreased activation in visual association cortex; one temporoccipital AVM with left language dominance and neurovascular uncoupling. Conclusion: fMRI can delineate anatomically the relationship between the lesion and eloquent cortex, providing useful information for presurgical planning and allowing risk estimation of intervention.

Espasmo hemifacial e impressão basilar associados a malformação de arnold-chiari relato de caso

Directory of Open Access Journals (Sweden)

Manoel Baldoino Leal Filho

1992-09-01

Full Text Available Os autores relatam o caso de uma paciente com espasmo hemifacial e impressão basilar associados a malformação de Arnold-Chiari. Com a descompressão cirúrgica da fossa posterior, empregada no tratamento da impressão basilar, houve melhora do quadro clínico e o espasmo hemifacial se reduziu quanto à frequência, duração e intensidade. É enfatizada a necessidade do tratamento etiológico do espasmo hemifacial, antes de se recorrer à toxina botulínica.

Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child.

Science.gov (United States)

Weston, Jennifer; Bromley, Rebecca; Jackson, Cerian F; Adab, Naghme; Clayton-Smith, Jill; Greenhalgh, Janette; Hounsome, Juliet; McKay, Andrew J; Tudur Smith, Catrin; Marson, Anthony G

2016-11-07

There is evidence that certain antiepileptic drugs (AEDs) are teratogenic and are associated with an increased risk of congenital malformation. The majority of women with epilepsy continue taking AEDs throughout pregnancy; therefore it is important that comprehensive information on the potential risks associated with AED treatment is available. To assess the effects of prenatal exposure to AEDs on the prevalence of congenital malformations in the child. We searched the Cochrane Epilepsy Group Specialized Register (September 2015), Cochrane Central Register of Controlled Trials (CENTRAL) (2015, Issue 11), MEDLINE (via Ovid) (1946 to September 2015), EMBASE (1974 to September 2015), Pharmline (1978 to September 2015), Reprotox (1983 to September 2015) and conference abstracts (2010-2015) without language restriction. We included prospective cohort controlled studies, cohort studies set within pregnancy registries and randomised controlled trials. Participants were women with epilepsy taking AEDs; the two control groups were women without epilepsy and women with epilepsy who were not taking AEDs during pregnancy. Three authors independently selected studies for inclusion. Five authors completed data extraction and risk of bias assessments. The primary outcome was the presence of a major congenital malformation. Secondary outcomes included specific types of major congenital malformations. Where meta-analysis was not possible, we reviewed included studies narratively. We included 50 studies, with 31 contributing to meta-analysis. Study quality varied, and given the observational design, all were at high risk of certain biases. However, biases were balanced across the AEDs investigated and we believe that the results are not explained by these biases.Children exposed to carbamazepine (CBZ) were at a higher risk of malformation than children born to women without epilepsy (N = 1367 vs 2146, risk ratio (RR) 2.01, 95% confidence interval (CI) 1.20 to 3.36) and women with

Surgical Treatment for a Complex Congenital Arteriovenous Malformation of the Lower Limb

OpenAIRE

Ozcan, Ali Vefa; Boysan, Emre; Isikli, Osman Yasar; Goksin, Ibrahim

2013-01-01

Arteriovenous fistula is defined as an abnormal communication between the arterial and venous systems. The complexity of congenital arteriovenous malformations makes treatment challenging. We present the case of a 23-year-old woman who had a complex congenital arteriovenous malformation in her left leg and a history of 2 unsuccessful coil-embolization procedures. We ligated all the feeding arteries of the arteriovenous malformation in the region of the superficial femoral artery, and the surg...

Congenital Pulmonary Malformation in Children

OpenAIRE

Nadeem, Montasser; Elnazir, Basil; Greally, Peter

2012-01-01

Congenital Pulmonary Malformations (CPMs) are a group of rare lung abnormalities affecting the airways, parenchyma, and vasculature. They represent a spectrum of abnormal development rather than discrete pathological entities. They are caused by aberrant embryological lung development which occurs at different stages of intrauterine life.

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

NARCIS (Netherlands)

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

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

A case report of secondary Budd-Chiari syndrome due to chronic empyema diagnosed by NMR-CT

International Nuclear Information System (INIS)

Takagi, Sayumi; Hattori, Akira; Yamauchi, Masayosi; Kimura, Kazuo; Suzino, Hajime; Sibata, Koji; Watanabe, Reijiro; Kameda, Haruo

1985-01-01

A 34-year-old male patient complained of general fatigue, ascites, and edema of the lower extremities. A chest x-ray film showed atelectasis of the right lung and pleural effusion of the right side. Liver ultrasonography revealed stenosis of the middle and right hepatic veins. Venacavography revealed stenosis of the inferior vena cava and collateral circulation. Finally, abdominal NMR-CT clearly visualized lunate stenosis and antero-lateral deviation of the inferior vena cava. He was diagnosed as having secondary Budd-Chiari syndrome resulting from the deviation and stenosis of the inferior vena cava due to distortion of the surrounding tissues by the thickened pleura which was caused by chronic empyema. (Namekawa, K.)

Radiological features of childhood giant cavernous malformations

Energy Technology Data Exchange (ETDEWEB)

Ozgen, Burce; Senocak, Efsun; Oguz, Kader K. [Hacettepe University, Department of Radiology, Faculty of Medicine, Ankara (Turkey); Soylemezoglu, Figen [Hacettepe University, Department of Pathology, School of Medicine, Ankara (Turkey); Akalan, Nejat [Hacettepe University, Department of Neurosurgery, School of Medicine, Ankara (Turkey)

2011-04-15

Giant cavernous malformations (GCM) are very large, low-flow vascular malformations, which usually have atypical imaging features and are commonly misdiagnosed preoperatively as neoplasms or vascular malformations. These lesions have mostly been reported in children. As cavernomas show different features in children compared to adults, we evaluated the imaging features of pediatric GCMs in order to help in the preoperative diagnosis of these malformations. Brain MR studies of nine children (mean age of 4 years; 8 months-9 years) with biopsy-proven GCM were retrospectively evaluated. We defined GCMs as cavernomas of {>=}4 cm. Lesions were evaluated regarding their size, location, signal characteristics, general appearance (uni/multilocular) as well as regarding the presence of mass effect, edema, and fluid-fluid levels and were classified according to the Mottolese classification of pediatric cavernomas. Lesion locations were parietal (n = 5), frontal (n = 2), temporal, and intraventricular. Seven lesions were in the periventricular region (with five in the periatrial region). Six patients had T1 hyperintense multilobulated lesions with ''bubbles of blood'' appearance and three patients had heterogeneous lesions with reticular core. All lesions had mass effect, edema (marked in four cases), and peripheral hemosiderin rim. Fluid-fluid levels were also common (n = 7). Most of our lesions (six of nine) were classified as type IIIA, two as type IIIC, and one as type IA. In children, a GCM should be considered in case of very large hemorrhagic intra-axial mass with ''bubbles of blood'' multicystic appearance, surrounding hemosiderin ring, fluid-fluid levels, and accompanying edema-mass effect, especially in the periatrial location. (orig.)

A rare combination: congenital factor VII deficiency with Chiari malformation.

Science.gov (United States)

Bay, Ali; Aktekin, Elif; Erkutlu, Ibrahim

2015-12-01

Congenital factor (VII) deficiency is a rare bleeding disorder. We present a patient with congenital FVII deficiency and congenital hydrocephalus who underwent a ventriculoperitoneal shunt operation and needed no prophylaxis after the procedure.

Abortion, premature delivery, stillborn, and malformations

International Nuclear Information System (INIS)

Sato, Yukio

1992-01-01

Since A-bomb disaster in Hiroshima and Nagasaki, genetic effects of A-bomb radiation have been investigated in the offspring of A-bomb survivors. This paper outlines the results of the previous studies in the context of the historical backgrounds. An earlier survey using a cohort of 71,280 children of Hiroshima and Nagasaki A-bomb survivors and a suitable control population of non-exposed 55,870 persons have dealt with the stillborn, neonate death, 9-month-old infant death, malformations at birth and 9 months after birth, and sex ratio in F 1 offspring; it was found that there was no significant difference in these items between the exposed and non-exposed groups. The other survey using fetal and neonatal autopsy cases has revealed that the incidence of malformations was significantly higher in children born to A-bomb survivors than those of the control population (18.5% vs 11.0%); however, there was no evidence of genetic abnormalities specific to the group of A-bomb survivors. Until now, no definitive conclusions of the sex ratio at birth have been drawn. Regarding height in F 1 offspring, no significant difference existed between the exposed and non-exposed groups. Nor was there significant difference in malformations in F 1 and F 2 offspring between the group of A-bomb survivors and the suitable control group. (N.K.)

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

International Nuclear Information System (INIS)

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

1990-01-01

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

Clinical application of Inoue-balloon in percutaneous transluminal angioplasty for Budd-Chiari syndrome

International Nuclear Information System (INIS)

Mei Jian; Qu Jian; Zhu Yaoqing; Wang Lei; Liu Cheng

2007-01-01

Objective: To investigate the feasibility and effect of recanalization of inferior vena cava with percutaneous transluminal angioplasty(PTA)by Inoue-balloon. Methods: Eighty-nine patients with Budd-chiari syndrome (BCS )were treated with PTA by Inoue-balloon. Results: After PTA, the median (interquartile range)diameter of hepatic segment inferior vena cava increased from 0.00 (0.20-0.00) cm to 1.90 (2.00 1.47)cm; (P < 0.001), and the mean pressure of inferior vena cava reduced from (20.63 ± 7.22) mmHg to (12.13 ± 5.60) mmHg; (P < 0.001); with only less serious complications as rupture in two cases and without need of prior minor diameter balloon dilation in Inoue-balloon PTA. Conclusion: The advantages of Inoue- balloon PTA for BCS are more reliable and facile than those of polyethylene balloon, and may take the place in the foreseen future. (authors)

Trimethoprim Use prior to Pregnancy and the Risk of Congenital Malformation

DEFF Research Database (Denmark)

Andersen, Jon Trærup; Petersen, Morten; Jimenez-Solem, Espen

2013-01-01

(OR) of major congenital malformation was 1.87, 95% confidence interval (CI) 1.25-2.81. There was a significant increase in major malformations of the heart (OR = 2.49; 1.18-5.26) and limbs (OR = 2.18; 1.13-4.23). Conclusions. In this study, we found an association between exposure to trimethoprim......Objectives. The aim of the study was to investigate whether the use of the antifolate antibiotic trimethoprim during the 12 weeks before conception was associated with congenital malformations. Methods. We conducted a nationwide register-based cohort study including all Danish women giving birth...... from 1997 to 2004. All women with at least one prescription of trimethoprim dispensed during the 12 weeks before conception were identified. Results. There was a doubling of congenital malformations in offspring to women exposed to trimethoprim in the 12 weeks before conception. The adjusted odds ratio...

Imaging diagnosis of venous malformation in head and neck

International Nuclear Information System (INIS)

Ha, Doo Hoe; Kim, Dong Ik; Suh, Jung Ho; Jung, Tae Sub

1992-01-01

The venous malformation in head and neck is a development vascular disease which arises from the arrest in the certain stage of vascular embryogenesis. However, the lesion extends along the fascia and has a tendency to recur after incomplete therapy. Retrospectively, the authors reviewed radiologic studies of 20 patients diagnosed as venous malformation during the last 5 years. The diagnosis was verified by histopathology (5 patients) and direct puncture angiography (15 patients). The radiologic studies included. CT with intravenous contrast injection (20 patients), RI angiography with 99mTc-pyrophosphate (6 patients), and direct puncture angiography (15 patients). Multiplicity of venous malformation was noted in 9 patients. On CT scan, the lesions had lobulated irregular shape, with heterogeneous appearance, showed delayed enhancing characteristics, and had the phleboliths (21 lesions). The venous malformations were located at the masticator space (including masseter muscle) (n = 12), retrobulbar space (n 6), submandibular space (n = 4), paravertebral space (n = 3) and so on. In two cases, the lesions were very extensive involving entire neck and parapharynx. On RI angiography using 99m Tc-pyrophosphate, all of the lesions showed persistent and delayed uptake. With direct puncture angiography the lesions could be classified as acinar pattern (n = 17) and mixed pattern (acinar and saccular) (n = 2). Venous connections were noted in 10 lesions. In conclusion, if a soft tissue mass on head and neck shows a heterogeneous attenuation density with or without calcified phlebolith on CT scan, RI angiography is recommended as a next diagnostic study. If it shows delayed persistent uptake, venous malformation can be suspected. Finally direct puncture angiography can verify the nature and extent of the lesion

Placenta previa and risk of major congenital malformations among singleton births in Finland.

Science.gov (United States)

Kancherla, Vijaya; Räisänen, Sari; Gissler, Mika; Kramer, Michael R; Heinonen, Seppo

2015-06-01

Placenta previa has been associated with adverse birth outcomes, but its association with congenital malformations is inconclusive. We examined the association between placenta previa and major congenital malformations among singleton births in Finland. We performed a retrospective population register-based study on all singletons born at or after 22+0 weeks of gestation in Finland during 2000 to 2010. We linked three national health registers: the Finnish Medical Birth Register, the Hospital Discharge Register, and the Register of Congenital Malformations, and examined several demographic and clinical characteristics among women with and without placenta previa, in association with major congenital malformations. We estimated adjusted odds ratios and 95% confidence intervals using multivariable logistic regression models. The prevalence of placenta previa was estimated as 2.65 per 1000 singleton births in Finland (95% confidence interval, 2.53-2.79). Overall, 6.2% of women with placenta previa delivered a singleton infant with a major congenital malformation, compared with 3.8% of unaffected women (p ≤ 0.001). Placenta previa was positively associated with almost 1.6-fold increased risk of major congenital malformations in the offspring, after controlling for maternal age, parity, fetal sex, smoking, socio-economic status, chorionic villus biopsy, In vitro fertilization, pre-existing diabetes, depression, preeclampsia, and prior caesarean section (adjusted odds ratio = 1.55; 95% confidence interval, 1.27-1.90). Using a large population-based study, we found that placenta previa was weakly, but significantly associated with an increased risk of major congenital malformations in singleton births. Future studies should examine the association between placenta previa and individual types of congenital malformations, specifically in high-risk pregnancies. © 2015 Wiley Periodicals, Inc.

Antithyroid Drugs and Congenital Malformations: A Nationwide Korean Cohort Study.

Science.gov (United States)

Seo, Gi Hyeon; Kim, Tae Hyuk; Chung, Jae Hoon

2018-03-20

Untreated or insufficiently treated Graves disease in pregnancy may pose risks to both mother and fetus. Antithyroid drugs (ATDs) are the treatment mainstay, but the potential teratogenic effect of these drugs has prompted clinicians to question the safe management of this vulnerable population. To examine the association between maternal prescriptions for ATDs and congenital malformations in live births. Nationwide cohort study. Korean National Health Insurance database. A cohort of 2 886 970 completed pregnancies linked to live-born infants in 2 210 253 women between 2008 and 2014. Maternal prescriptions for ATDs in the first trimester. The risk for overall and organ-specific congenital malformations in offspring, with logistic regression models used to control for potential confounders. 12 891 pregnancies (0.45%) were exposed to ATDs during the first trimester. The prevalence of malformations in exposed offspring was 7.27%, compared with 5.94% in offspring of women who were not prescribed ATDs during pregnancy (P 495 mg) during the first trimester was associated with an increased risk for malformations compared with a low dose (1 to 126 mg) (adjusted odds ratio, 1.87 [CI, 1.06 to 3.30]). The study used a prescription claims database to assess ATD exposure. Exposure to ATDs during the first trimester was associated with increased risk for congenital malformations, particularly for pregnancies in which women received prescriptions for MMI or both ATDs. None.

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

Science.gov (United States)

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

2014-01-01

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

Congenital Pulmonary Malformation in Children

Directory of Open Access Journals (Sweden)

Montasser Nadeem

2012-01-01

Full Text Available Congenital Pulmonary Malformations (CPMs are a group of rare lung abnormalities affecting the airways, parenchyma, and vasculature. They represent a spectrum of abnormal development rather than discrete pathological entities. They are caused by aberrant embryological lung development which occurs at different stages of intrauterine life.

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

Directory of Open Access Journals (Sweden)

Laura A. Runck

2014-04-01

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

Uterine arteriovenous malformation as a rare cause of genital bleeding

International Nuclear Information System (INIS)

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

2002-01-01

Uterine arteriovenous malformation is a rarely described entity, the presenting sign of which is usually genital bleeding. We report a case of this malformation in a woman of child-bearing age with a history of traumatic delivery and repeated subsequent curettage, describing the ultrasound, computed tomography and magnetic resonance findings, as well as the results of arteriography. (Author) 5 refs

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

Science.gov (United States)

Shi, Hongjun; Enriquez, Annabelle; Rapadas, Melissa; Martin, Ella M M A; Wang, Roni; Moreau, Julie; Lim, Chai K; Szot, Justin O; Ip, Eddie; Hughes, James N; Sugimoto, Kotaro; Humphreys, David T; McInerney-Leo, Aideen M; Leo, Paul J; Maghzal, Ghassan J; Halliday, Jake; Smith, Janine; Colley, Alison; Mark, Paul R; Collins, Felicity; Sillence, David O; Winlaw, David S; Ho, Joshua W K; Guillemin, Gilles J; Brown, Matthew A; Kikuchi, Kazu; Thomas, Paul Q; Stocker, Roland; Giannoulatou, Eleni; Chapman, Gavin; Duncan, Emma L; Sparrow, Duncan B; Dunwoodie, Sally L

2017-08-10

Congenital malformations can be manifested as combinations of phenotypes that co-occur more often than expected by chance. In many such cases, it has proved difficult to identify a genetic cause. We sought the genetic cause of cardiac, vertebral, and renal defects, among others, in unrelated patients. We used genomic sequencing to identify potentially pathogenic gene variants in families in which a person had multiple congenital malformations. We tested the function of the variant by using assays of in vitro enzyme activity and by quantifying metabolites in patient plasma. We engineered mouse models with similar variants using the CRISPR (clustered regularly interspaced short palindromic repeats)-Cas9 system. Variants were identified in two genes that encode enzymes of the kynurenine pathway, 3-hydroxyanthranilic acid 3,4-dioxygenase (HAAO) and kynureninase (KYNU). Three patients carried homozygous variants predicting loss-of-function changes in the HAAO or KYNU proteins (HAAO p.D162*, HAAO p.W186*, or KYNU p.V57Efs*21). Another patient carried heterozygous KYNU variants (p.Y156* and p.F349Kfs*4). The mutant enzymes had greatly reduced activity in vitro. Nicotinamide adenine dinucleotide (NAD) is synthesized de novo from tryptophan through the kynurenine pathway. The patients had reduced levels of circulating NAD. Defects similar to those in the patients developed in the embryos of Haao-null or Kynu-null mice owing to NAD deficiency. In null mice, the prevention of NAD deficiency during gestation averted defects. Disruption of NAD synthesis caused a deficiency of NAD and congenital malformations in humans and mice. Niacin supplementation during gestation prevented the malformations in mice. (Funded by the National Health and Medical Research Council of Australia and others.).

Prenatal diagnosis of concurrent facial and cerebral vascular malformation which caused congestive heart failure

Directory of Open Access Journals (Sweden)

Behnaz Moradi

2017-12-01

Full Text Available Arteriovenous malformations (AVMs are rarely reported antenatally. Most in utero diagnosis of vascular malformation is related to vein of Galen malformation (VGM. We describe a case of simultaneously diagnosed pial arteriovenous fistula (AVF and facial vascular malformation in a 20 weeks old fetus. The dilated intracranial venous pouch appeared as a midline anechoic structure which was misdiagnosed as a VGM in her previous ultrasound exam. Another AVM was diagnosed in the same side of fetal face which fed by a branch of external carotid artery and communicated with the mentioned pial AVF. High output cardiac failure and hydrops were evident. To our knowledge this is the first report of prenatally detected combination of facial and cerebral vascular malformations at such as early pregnancy week.

MRI phenotypes of localized intravascular coagulopathy in venous malformations

Energy Technology Data Exchange (ETDEWEB)

Koo, Kevin S.H. [Boston Children' s Hospital, Department of Radiology, Boston, MA (United States); Dowd, Christopher F.; Hess, Christopher P. [University of California, San Francisco, Department of Radiology and Biomedical Imaging, San Francisco, CA (United States); Mathes, Erin F.; Frieden, Ilona J. [University of California, San Francisco, Department of Dermatology, San Francisco, CA (United States); Rosbe, Kristina W. [University of California, San Francisco, Department of Otolaryngology, San Francisco, CA (United States); Hoffman, William Y. [University of California, San Francisco, Department of Surgery, San Francisco, CA (United States)

2015-10-15

The incidence of localized intravascular coagulopathy (LIC) in venous malformations varies with lesion size and location, as well as the presence of palpable phleboliths. The development of LIC can cause pain and hemorrhage and can progress to disseminated intravascular coagulopathy (DIC) and thromboembolic disease resulting in death in some cases. Early recognition of LIC can relieve symptoms and prevent progression to life-threatening complications. The aim of this work was to identify MRI features of venous malformation associated with LIC. We hypothesized that venous malformations with larger capacitance, slower flow and less physiological compression (greater stasis) were more likely to be associated with LIC. In this HIPAA-compliant and IRB-approved study, we retrospectively reviewed clinical records and MRI for consecutive patients undergoing evaluation of venous malformations at our multidisciplinary Birthmarks and Vascular Anomalies Center between 2003 and 2013. Inclusion required consensus diagnosis of venous malformation and availability of laboratory data and MRI; patients on anticoagulation or those previously undergoing surgical or endovascular treatment were excluded. LIC was diagnosed when D-dimer exceeded 1,000 ng/mL and/or fibrinogen was less than 200 mg/dL. Two board-certified radiologists assessed the following MRI features for each lesion: morphology (spongiform vs. phlebectatic), presence of phleboliths, size, location (truncal vs. extremity), and tissue type(s) involved (subcutis, muscle, bone and viscera). Univariate logistic regression analyses were used to test associations between LIC and MRI findings, and stepwise regression was applied to assess the significance of the individual imaging predictors. Seventy patients, 37 with LIC, met inclusion criteria during the 10-year study period (age: 14.5 +/- 13.6 years [mean +/- standard deviation]; 30 male, 40 female). Both elevated D-dimer and low fibrinogen were associated with the presence of

MRI phenotypes of localized intravascular coagulopathy in venous malformations

International Nuclear Information System (INIS)

Koo, Kevin S.H.; Dowd, Christopher F.; Hess, Christopher P.; Mathes, Erin F.; Frieden, Ilona J.; Rosbe, Kristina W.; Hoffman, William Y.

2015-01-01

The incidence of localized intravascular coagulopathy (LIC) in venous malformations varies with lesion size and location, as well as the presence of palpable phleboliths. The development of LIC can cause pain and hemorrhage and can progress to disseminated intravascular coagulopathy (DIC) and thromboembolic disease resulting in death in some cases. Early recognition of LIC can relieve symptoms and prevent progression to life-threatening complications. The aim of this work was to identify MRI features of venous malformation associated with LIC. We hypothesized that venous malformations with larger capacitance, slower flow and less physiological compression (greater stasis) were more likely to be associated with LIC. In this HIPAA-compliant and IRB-approved study, we retrospectively reviewed clinical records and MRI for consecutive patients undergoing evaluation of venous malformations at our multidisciplinary Birthmarks and Vascular Anomalies Center between 2003 and 2013. Inclusion required consensus diagnosis of venous malformation and availability of laboratory data and MRI; patients on anticoagulation or those previously undergoing surgical or endovascular treatment were excluded. LIC was diagnosed when D-dimer exceeded 1,000 ng/mL and/or fibrinogen was less than 200 mg/dL. Two board-certified radiologists assessed the following MRI features for each lesion: morphology (spongiform vs. phlebectatic), presence of phleboliths, size, location (truncal vs. extremity), and tissue type(s) involved (subcutis, muscle, bone and viscera). Univariate logistic regression analyses were used to test associations between LIC and MRI findings, and stepwise regression was applied to assess the significance of the individual imaging predictors. Seventy patients, 37 with LIC, met inclusion criteria during the 10-year study period (age: 14.5 +/- 13.6 years [mean +/- standard deviation]; 30 male, 40 female). Both elevated D-dimer and low fibrinogen were associated with the presence of

Emergency hepatectomy for hepatic arteriovenous malformation combined with pulmonary hypertension in an infant

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Naruhiko Murase

2015-12-01

Full Text Available Patients with hepatic arteriovenous malformations rarely present with pulmonary hypertension. We report the case of a 3-month-old boy who developed severe pulmonary hypertension due to a hepatic arteriovenous malformation. The use of pulmonary vasodilators to treat the patient's pulmonary hypertension worsened his high-output heart failure. This is the first case in which emergency hepatectomy rescued a patient with hepatic arteriovenous malformations who developed pulmonary hypertension.

Screening for congenital heart malformations in child health centres

OpenAIRE

Juttmann, Rikard

1999-01-01

textabstractThe objective of this thesis is to clarify the effectiveness and the efficiency of screening for congenital heart malformations in Dutch child health centres and the possibilities to optimise this prevention programme. To this end the following main questions will be addressed. 1. Does screening for congenital heart malformations, as actually performed in Dutch child health centres, prevent adverse outcomes of these disorders in the short and long run? What would be the answer to ...

Prevalence of brain arteriovenous malformations in first-degree relatives of patients with a brain arteriovenous malformation

NARCIS (Netherlands)

van Beijnum, Janneke; van der Worp, H. Bart; Algra, Ale; Vandertop, W. Peter; van den Berg, René; Brouwer, Patrick A.; van der Sprenkel, Jan Willem Berkelbach; Kappelle, L. Jaap; Rinkel, Gabriël J. E.; Klijn, Catharina J. M.

2014-01-01

It is uncertain whether familial occurrence of brain arteriovenous malformations (BAVMs) represents coincidental aggregation or a shared familial risk factor. We aimed to compare the prevalence of BAVMs in first-degree relatives (FDRs) of patients with BAVM and the prevalence in the general

Maternal smoking in pregnancy and risk for congenital malformations: results of a Danish register-based cohort study.

Science.gov (United States)

Leite, Mimmi; Albieri, Vanna; Kjaer, Susanne K; Jensen, Allan

2014-08-01

To examine the association between maternal smoking during pregnancy and risk for congenital malformations. Population-based prospective cohort study. Denmark. A total of 838 265 singleton liveborn babies delivered in Denmark between 1997 and 2010 and registered in the Danish Medical Birth Register containing detailed information on smoking during pregnancy and congenital malformations. Associations [odds ratios (OR) with 95% CI] between maternal smoking and risk for various groups of congenital malformations, investigated using the generalized estimating equation for binary outcomes, with adjustment for potential confounders. Groups of congenital malformations. Ever smoking during pregnancy did not increase the overall risk for congenital malformations, but increased risks were observed for multiple malformations (i.e. when two or more malformations are diagnosed in a child) (odds ratio 1.06, 95% confidence interval 1.01-1.10) and various main groups of congenital malformations including the cardiovascular system (odds ratio 1.13, 95% confidence interval 1.07-1.19), the respiratory system (odds ratio 1.25, 95% confidence interval 1.11-1.41), the digestive system (odds ratio 1.15, 95% confidence interval 1.07-1.24) and oral clefts (odds ratio 1.29, 95% confidence interval 1.14-1.46), as well as for some specific congenital malformations including cardiac septal defects, malformations of the pulmonary and tricuspid valves, malformations of the great arteries, pyloric stenosis and clubfoot. Infants of women who quit smoking during the first two trimesters had no increased risk for most groups of congenital malformations. Maternal smoking increases the risk for a number of congenital malformations. Future smoking cessation programs should focus on this adverse health aspect in order to encourage more women to quit smoking before or in early pregnancy. © 2014 Nordic Federation of Societies of Obstetrics and Gynecology.

Hip malformation is a very common finding in young patients scheduled for total hip arthroplasty

DEFF Research Database (Denmark)

Karimi, Dennis; Kallemose, Thomas; Troelsen, Anders

2018-01-01

and prevalences of hip malformations were; CAM-deformity 50.9 and 25.5%, coxa profunda 33 and 27.4%, acetabular retroversion 33 and 29.2%, and acetabular dysplasia 10.4 and 3.8%. All patients showed minimum of one malformation. Prevalences of Tönnis grade 0-1 were 22.6% and 2-3 were 77.4%. CONCLUSION: All......INTRODUCTION: In Denmark, 20% of all registered total hip arthroplasties (THA) from 1995 to 2014 has been patients younger than 60 years with primary idiopathic osteoarthritis (OA). It is speculated that hip malformations may be a major contributor to early OA development. It has been shown...... that hip malformation may compromise implant position and, therefore, identifying and knowing the incidence of malformations is important. Our aim was to assess the prevalence and type of hip malformations in a cohort of younger patients undergoing THA. MATERIALS AND METHODS: In this prospective two center...

Significant decrease in congenital malformations in newborn infants of an unselected population of diabetic women

DEFF Research Database (Denmark)

Damm, P; Mølsted-Pedersen, L

1989-01-01

In an unselected and consecutive series of 1858 newborn infants of diabetic mothers, born in the Rigshospital, Copenhagen, in the period 1967 to 1986, congenital malformations were studied. The malformation rate in White Classes B to F was remarkably constant from 1967 to 1981, but a significant...... decrease in major congenital malformations was found in the period 1982 to 1986 versus 1977 to 1981 (2.7% vs. 7.4%, p less than 0.05). This decrease was mainly due to a fourfold decline in major congenital malformations in White Classes D and F (p less than 0.01), and consequently a correlation between...... the severity of maternal diabetes and the frequency of congenital malformations was no longer present. In the offspring of a control group of 1715 nondiabetic women, major congenital malformations were found in 1.7% (p greater than 0.05). Seventy-five percent of the diabetic pregnancies were planned...

Genetics Home Reference: microcephaly-capillary malformation syndrome

Science.gov (United States)

... and Stroke: Epilepsy Information Page National Institute of Neurological Disorders and Stroke: Microcephaly Educational Resources (7 links) Boston Children's Hospital: Capillary Malformation Boston Children's Hospital: Microcephaly Centers ...

Surgical Treatment of Dermatomal Capillary Malformations in the Adult Face

Directory of Open Access Journals (Sweden)

Yoojeong Kim

2012-03-01

Full Text Available BackgroundFacial capillary malformations (CMs rarely recede; they often become darker and raised in proportion to their growth. These malformations may hypertrophy in adulthood, resulting in increased disfigurement and dysfunction. Laser treatment is considered a first-line therapy for focal CMs, but thick wide lesions, which are accompanied by hypertrophy and have a well-circumscribed nodularity, may be treated with surgical excision and reconstruction.MethodsWe retrospectively reviewed the records of 25 consecutive patients who had undergone complete or partial excisions of facial capillary malformations in our unit. After the excisions, the defects that encompassed their facial aesthetic units were subsequently covered by various methods, including primary closures, local flaps, expanded flaps, split-thickness skin grafts, and full thickness skin grafts.ResultsThe data demonstrated satisfactory results and reliability. Our patients were treated without significant complications, and all of the patients were moderately or fully satisfied with the outcome of their surgeries.ConclusionsAmong the many reconstructive options for adult patients with facial capillary malformations, thick split-thickness skin grafts can be a good choice for the coverage of widely excised wounds.

The history of female genital tract malformation classifications and proposal of an updated system.

Science.gov (United States)

Acién, Pedro; Acién, Maribel I

2011-01-01

A correct classification of malformations of the female genital tract is essential to prevent unnecessary and inadequate surgical operations and to compare reproductive results. An ideal classification system should be based on aetiopathogenesis and should suggest the appropriate therapeutic strategy. We conducted a systematic review of relevant articles found in PubMed, Scopus, Scirus and ISI webknowledge, and analysis of historical collections of 'female genital malformations' and 'classifications'. Of 124 full-text articles assessed for eligibility, 64 were included because they contained original general, partial or modified classifications. All the existing classifications were analysed and grouped. The unification of terms and concepts was also analysed. Traditionally, malformations of the female genital tract have been catalogued and classified as Müllerian malformations due to agenesis, lack of fusion, the absence of resorption and lack of posterior development of the Müllerian ducts. The American Fertility Society classification of the late 1980s included seven basic groups of malformations also considering the Müllerian development and the relationship of the malformations to fertility. Other classifications are based on different aspects: functional, defects in vertical fusion, embryological or anatomical (Vagina, Cervix, Uterus, Adnex and Associated Malformation: VCUAM classification). However, an embryological-clinical classification system seems to be the most appropriate. Accepting the need for a new classification system of genitourinary malformations that considers the experience gained from the application of the current classification systems, the aetiopathogenesis and that also suggests the appropriate treatment, we proposed an update of our embryological-clinical classification as a new system with six groups of female genitourinary anomalies.

"COCHLEAR IMPLANTATION IN PATIENTS WITH INNER EAR MALFORMATIONS"

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P. Borghei S. Abdi

2004-08-01

Full Text Available Performing cochlear implantation in patients with inner ear malformation has always been a matter of dispute. This study was designed to analyze the operative findings,complications, and postoperative performance of patients with inner ear anomalies who underwent cochlear implantation. Six patients with inner ear malformations underwent implantation in our academic tertiary referral center from 1997 to 2002. The average follow-up period was 27 months. Malformations included one incomplete partition, one common cavity, one narrow internal acoustic canal (IAC in a patient with Riley-Day syndrome and 3 cases of large vestibular aqueduct. All received multi-channel implants either Nucleus 22 or Clarion device. Facial nerve was anomalous in 2 cases. CSF gusher occurred in 4 patients, which was controlled with packing the cochleostomy site. In all cases, the full length of electrode array was inserted, except one with Mondini's dysplasia where insertion failed in the first operation and was referred to another center for a successful surgery on the opposite ear. No other surgical complications were encountered. In 4 cases, all the 22 electrodes could be activated. All patients showed improved hearing performance after implantation. Four showed open-set speech recognition. The one with narrow IAC showed improved awareness to environmental sounds. In the other case (common cavity, the perception tests could not be performed because of very young age. Cochlear implantation in patients with inner ear malformations is a successful way of rehabilitation, although complications should be expected and auditory responses may be highly variable and relatively moderate.

Spine malformation complex in 3 diverse syndromic entities

Science.gov (United States)

Kaissi, Ali Al; van Egmond-Fröhlich, Andreas; Ryabykh, Sergey; Ochirov, Polina; Kenis, Vladimir; Hofstaetter, Jochen G.; Grill, Franz; Ganger, Rudolf; Kircher, Susanne Gerit

2016-01-01

Abstract Rationale: Clinical and radiographic phenotypic characterizations were the base line tool of diagnosis in 3 syndromic disorders in which congenital cervico-thoracic kyphosis was the major deformity. Patients concerns: Directing maximal care toward the radiographic analysis is not only the axial malformation but also toward the appendicular abnormalities was our main concern. We fully documented the diversity of the spine phenotypic malformation complex via the clinical and radiographic phenotypes. Diagnoses: We established the diagnosis via phenotypic/genotypic confirmation in 3 diverse syndromic entities namely acampomelic campomelic dysplasia, Larsen syndrome and Morquio syndrome type A (mucopolysaccharidosis type IV A). Interventions: Surgical interventions have been carried out in the Larsen syndrome and Morquio syndrome type A, resepectively. Outcomes: The earliest the diagnosis is, the better the results are. The necessity to diagnose children in their first year of life has many folds, firstly the management would be in favor of the child's growth and development and secondly, the prognosis could be clearer to the family and the medical staff as well. Our current paper is to sensitize paediatricians, physicians and orthopedic surgeons regarding the necessity to detect the aetiological understanding in every child who manifests a constellation of malformation complex. Lesons: Scoliosis and kyphosis/kyphoscoliosis are not a diagnosis in themselves. Such deformities are mostly a symptom complex correlated to dozens of types of syndromic associations. The rate curve progression and the final severity of congenital spine tilting are related to 3 factors: (a) the type of vertebral malformation present, (b) the patient's phenotype, and (c) the diagnosis. PMID:27977582

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

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Yeşim Bayoğlu Tekin

2016-01-01

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

Exposure to selective serotonin reuptake inhibitors and the risk of congenital malformations

DEFF Research Database (Denmark)

Solem, Espen Victor Jimenez; Andersen, Jon Thor Trærup; Petersen, Morten

2012-01-01

Objectives:To analyse the relation between selective serotonin reuptake inhibitor (SSRI) use and major congenital malformations, with focus on malformations of the heart. DESIGN: Register-based retrospective nationwide cohort study, using the Danish Medical Birth Registry. SETTING: Denmark...... exposure during pregnancy. RESULTS: The authors identified 848¿786 pregnancies; 4183 were exposed to an SSRI throughout the first trimester and 806 pregnancies paused exposure during pregnancy. Risks of congenital malformations of the heart were similar for pregnancies exposed to an SSRI throughout...... the first trimester, adjusted OR 2.01 (95% CI 1.60 to 2.53), and for pregnancies with paused SSRI treatment during pregnancy, adjusted OR 1.85 (95% CI 1.07 to 3.20), p value for difference: 0.94. The authors found similar increased risks of specific congenital malformations of the heart for the individual...

Congenital malformations of the supratentorial brain. Pt. 1. Disorders of cortical development

International Nuclear Information System (INIS)

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

2003-01-01

Disorders of supratentorial cortical development are usually divided into disorders of neuronal proliferation, neuronal migration and cortical organization. Based upon molecular biologic discoveries, a modified classification has recently been proposed. The category of malformations of abnormal neuronal and glial proliferation and apoptosis now includes microlissencephalies, megalencephalies, hemimegalencephalies and cortical dysplasias with balloon cells. Malformations due to abnormal neuronal migration now subsume the lissencephaly spectrum including the subcortical band heterotopias, the cobblestone complex and the group of heterotopias. Malformations due to abnormal cortical organization include the spectrum of polymicrogyria and schizencephaly as well as cortical dysplasias without balloon cells. High-resolution magnetic resonance imaging (MRI) has led to an increasing awareness of these malformations. This article aims to illustrate the classification, MRI presentation and relevant clinical features of the most commonly encountered disorders of cortical development. (orig.) [de

Surgical treatment for a complex congenital arteriovenous malformation of the lower limb.

Science.gov (United States)

Ozcan, Ali Vefa; Boysan, Emre; Isikli, Osman Yasar; Goksin, Ibrahim

2013-01-01

Arteriovenous fistula is defined as an abnormal communication between the arterial and venous systems. The complexity of congenital arteriovenous malformations makes treatment challenging. We present the case of a 23-year-old woman who had a complex congenital arteriovenous malformation in her left leg and a history of 2 unsuccessful coil-embolization procedures. We ligated all the feeding arteries of the arteriovenous malformation in the region of the superficial femoral artery, and the surgery was successful without sequelae. The patient returned 2 years later with thrombosis of the great saphenous vein and underwent a second operation. The thrombosed vein and all varicosities were excised successfully. Surgery can be an effective method for correcting complex congenital arteriovenous malformations, especially in the lower limbs. A 2-staged surgical approach like ours might be a good option in suitable patients.

[Cochlear implant in patients with congenital malformation of the inner ear].

Science.gov (United States)

Wan, Liang-cai; Guo, Meng-he; Qian, Yu-hong; Liu, Shuang-xiu; Zhang, Hong-zheng; Chen, Shuai-jun; Chen, Hao; Gong, Jian

2009-10-01

To summarize the clinical experience with multi-channel cochlear implantation in patients with inner ear malformations and evaluate and the outcomes of speech rehabilitation. A retrospective study was conducted in 295 patients receiving cochlear implantation from 1998 to 2007, including 25 patients with large vestibular aqueduct syndrome (LVAS), 9 with Modini malformation, and 5 with common cavity deformity. All the patients received the Nucleus24 cochlear implants. In LVAS cases, 4 had Nucleus 24R (ST) implants, 8 had Contuor implants, 10 had Contuor Advance, and the remaining cases used Nucleus24(M) straight-electrode implants. Severe gusher appeared in 3 cases of LVAS, and perilymph fluctuation were seen in other 15 cases. Four patients with Mondini malformation and 2 with common cavity malformation also experienced severe gusher, but the electrodes were inserted smoothly in all the patients without postoperative facial paralysis or cerebrospinal fluid leakage. The hearing threshold in these patients was similar to that in patients with normal cochlear structure. After speech rehabilitation for over 6 months, the abilities of speech discrimination and spoken language improved in all the cases in comparison with the preoperative lingual functions. Multi-channel cochlear implantation can be performed in patients with inner ear malformation, but should not be attempted in patients with poor cochlear and cochlear nerve development. A comprehensive pre-operative radiographic and audiological evaluation is essential.

Berry syndrome in association with familial limb malformation.

LENUS (Irish Health Repository)

Shahdadpuri, R

2012-02-01

We describe a newborn boy diagnosed with Berry syndrome consisting of a distal aortopulmonary septal defect, aortic origin of the right pulmonary artery, and interruption of the aorta. The child was noted to have reduplication of the right thumb. The child\\'s mother had a claw malformation of her left hand but a normal cardiovascular status. Genetic analysis for TBX5 and SALL4 mutations were negative in both the patient and his mother. This case describes the first ever report of Berry syndrome in an infant with reduplication of the right thumb and familial limb malformation.

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

Science.gov (United States)

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

2015-10-01

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

Echography of congenital malformations of the central nervous system

International Nuclear Information System (INIS)

Toirac Romani, Carlos Andres; Salmon Cruzata, Acelia; Musle Acosta, Mirelvis; Rosales Fargie, Yamile; Dosouto Infante, Vivian

2010-01-01

A descriptive and prospective study was conducted in 173 pregnant women attended at the Provincial Department of Clinical Genetics of Santiago de Cuba, from January, 2000 to December, 2004, to identify congenital malformations of the central nervous system detected by means of echography. The most frequent malformation was the hydrocephaly, followed by the fusion defects of the spine, associated with the hydrocephaly and the absence of cranial cavity. There was a prevalence of altered alpha fetoprotein and of elevated amniotic fluid

Relative risk of hemorrhage during pregnancy in patients with brain arteriovenous malformations

NARCIS (Netherlands)

van Beijnum, Janneke; Wilkinson, Tim; Whitaker, Heather J.; van der Bom, Johanna G.; Algra, Ale; Vandertop, W. Peter; van den Berg, René; Brouwer, Patrick A.; Rinkel, Gabriël Je; Kappelle, L. Jaap; Al-Shahi Salman, Rustam; Klijn, Catharina Jm

2017-01-01

Background It is unclear whether the risk of bleeding from brain arteriovenous malformations is higher during pregnancy, delivery, or puerperium. We compared occurrence of brain arteriovenous malformation hemorrhage in women during this period with occurrence of hemorrhage outside this period during

Sirenomelia phenotype in bmp7;shh compound mutants: a novel experimental model for studies of caudal body malformations.

Science.gov (United States)

Garrido-Allepuz, Carlos; González-Lamuño, Domingo; Ros, Maria A

2012-01-01

Sirenomelia is a severe congenital malformation of the lower body characterized by the fusion of the legs into a single lower limb. This striking external phenotype consistently associates severe visceral abnormalities, most commonly of the kidneys, intestine, and genitalia that generally make the condition lethal. Although the causes of sirenomelia remain unknown, clinical studies have yielded two major hypotheses: i) a primary defect in the generation of caudal mesoderm, ii) a primary vascular defect that leaves the caudal part of the embryo hypoperfused. Interestingly, Sirenomelia has been shown to have a genetic basis in mice, and although it has been considered a sporadic condition in humans, recently some possible familial cases have been reported. Here, we report that the removal of one or both functional alleles of Shh from the Bmp7-null background leads to a sirenomelia phenotype that faithfully replicates the constellation of external and internal malformations, typical of the human condition. These mutants represent an invaluable model in which we have analyzed the pathogenesis of sirenomelia. We show that the signaling defect predominantly impacts the morphogenesis of the hindgut and the development of the caudal end of the dorsal aortas. The deficient formation of ventral midline structures, including the interlimb mesoderm caudal to the umbilicus, leads to the approximation and merging of the hindlimb fields. Our study provides new insights for the understanding of the mechanisms resulting in caudal body malformations, including sirenomelia.

Sirenomelia phenotype in bmp7;shh compound mutants: a novel experimental model for studies of caudal body malformations.

Directory of Open Access Journals (Sweden)

Carlos Garrido-Allepuz

Full Text Available Sirenomelia is a severe congenital malformation of the lower body characterized by the fusion of the legs into a single lower limb. This striking external phenotype consistently associates severe visceral abnormalities, most commonly of the kidneys, intestine, and genitalia that generally make the condition lethal. Although the causes of sirenomelia remain unknown, clinical studies have yielded two major hypotheses: i a primary defect in the generation of caudal mesoderm, ii a primary vascular defect that leaves the caudal part of the embryo hypoperfused. Interestingly, Sirenomelia has been shown to have a genetic basis in mice, and although it has been considered a sporadic condition in humans, recently some possible familial cases have been reported. Here, we report that the removal of one or both functional alleles of Shh from the Bmp7-null background leads to a sirenomelia phenotype that faithfully replicates the constellation of external and internal malformations, typical of the human condition. These mutants represent an invaluable model in which we have analyzed the pathogenesis of sirenomelia. We show that the signaling defect predominantly impacts the morphogenesis of the hindgut and the development of the caudal end of the dorsal aortas. The deficient formation of ventral midline structures, including the interlimb mesoderm caudal to the umbilicus, leads to the approximation and merging of the hindlimb fields. Our study provides new insights for the understanding of the mechanisms resulting in caudal body malformations, including sirenomelia.

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

Science.gov (United States)

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

2007-04-01

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

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

Science.gov (United States)

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

2014-01-01

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

Prenatal death and malformations after irradiation of mouse zygotes with neutrons or X-rays

International Nuclear Information System (INIS)

Pampfer, S.; Streffer, C.

1988-01-01

Female mice (strain: Heiligenberger Stamm) were irradiated with neutrons (7 MeV) or X-rays when embryos were at the early zygote stage; uterine contents were examined on gestation day 19 for prenatal mortality and malformed fetuses. For both radiation qualities, the dose-dependent survival curve fitted well to a simple exponential equation; the neutron relative biological efficiency (RBE) value was 2.3. The major fraction of deaths induced by exposure to neutrons or X-rays occurred before implantation. Aside from dead embryos, malformed fetuses were observed 19 days p.c. (postconception). The number of malformed fetuses increased with a linear-quadratic function of neutron or X-ray dose. Malformations were mainly gastroschisis, although omphaloceles and anencephalies were also observed. The neutron RBE value for the induction of malformations varied from 2.0 to 2.8 in the dose range tested. Except after 75-cGy neutrons, no significant increase in the proportion of stunted or skeletally malformed fetuses was noted. Our results indicated that the reaction of preimplantation embryos to irradiation could be more complex than the simple all-or-none response considered so far

Combined spinal intramedullary arteriovenous malformation and lipomyelomeningocele

Energy Technology Data Exchange (ETDEWEB)

Weon, Y.C.; Roh, H.G.; Byun, H.S. [Samsung Medical Center, Sungkyunkwan University School of Medicine, Department of Radiology, Seoul (Korea); Chung, J.I. [Medimoa Hospital, Department of Radiology, Seoul (Korea); Eoh, W. [Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea)

2005-10-01

Combined spinal arteriovenous malformation and lipomyelomeningocele are extremely rare. We present a rare combined case of a lipomyelomeningocele with an intramedullary arteriovenous malformation (AVM) occurred at the L3-L4 level in a 30-year-old man who suffered from low back pain radiating to the lower extremities, dysuria, and frequency for 5 years. The MR studies showed an intradural mass with high-signal intensity on both T1-weighted and T2-weighted images, intermingled with multiple signal-void structures. The mass extended extradurally toward a subcutaneously forming fatty mass on the patient's back. Spinal angiography showed an AVM supplied by the radiculopial branches of the lumbar arteries and drained by tortuous, dilated, perimedullary veins. Endovascular embolization and surgical resection were performed. (orig.)

Aneurysmal malformation of the extrahepatic portal vein: a case report

International Nuclear Information System (INIS)

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

1999-01-01

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

Transarterial embolization for hematuria caused by renal arteriovenous malformations or fistulae

International Nuclear Information System (INIS)

Meng Xiaoxi; Liu Shiyuan; Dong Weihua; Dong Sheng; Jia Ningyang; Xiao Xiangsheng

2008-01-01

Objective: To evaluate the efficacy and safety of transarterial embolization for hematuria caused by renal arteriovenous malformation or fistulae. Methods: Seven patients with gross hematuria caused by renal arterial abnormalities were retrospectively reviewed, of which three had congenital renal arteriovenous malformations and the other four had non-neoplastic acquired renal arteriovenous fistulae. All patients were confirmed by renal arterial angiography and undergone embolization with various embolic materials. Results: Embolization was successfully carried out in all cases. Gross hematuria disappeared one to seven days after the procedure. No severe complications were encountered. No recurrence occurred within 12 to 36 months of follow-up. Conclusions: Transarterial embolization is safe and effective for hematuria caused by renal arteriovenous malformations or fistulae. (authors)

[Trend of mortality of congenital malformation in children aged <5 years in Beijing, 2006-2015].

Science.gov (United States)

Wang, J; Li, D Y; Zhang, W X; Li, Y C; Wang, J

2017-01-10

Objective: To investigate the change in mortality of congenital malformation in children aged malformation in children aged malformation in the children s decreased from 1.909‰ in 2006 to 0.703‰ in 2015, the decrease rate was 63.17 % . The decrease rate was highest in neonates (71.50 % ) ( χ (2)=57.993, P 0.05), the mortality rates of congenital malformation in the children showed a downward trend in outer suburban area and suburban area ( χ (2) =40.637 and 50.646, P malformation decreased from 32.97 % in 2006 to 23.24 % in 2015, which mainly occurred in infancy and neonatal period ( χ (2)=9.395 and 4.354, P malformations and digestive tract abnormality didn' t decreased significantly ( P >0.05). In the leading causes of deaths from congenital malformation, the mortality of congenital heart disease, neural tube defects and digestive tract atresia decreased obviously ( χ (2)=70.868, 18.431 and 9.225, P 0.05). There was an obvious area specific difference between the deaths of congenital heart disease and the deaths of neural tube defects, the mortality was higher in outer suburbs than in suburban and urban area ( χ (2)=45.783 and 6.649, P malformation in Beijing has declined year by year, it is still the main cause of deaths in children under 5 years old, and the prevention and control of related diseases should be strengthened.

Efficacy and safety of OK-432 immunotherapy of lymphatic malformations.

Science.gov (United States)

Smith, Mark C; Zimmerman, M Bridget; Burke, Diane K; Bauman, Nancy M; Sato, Yutaka; Smith, Richard J H

2009-01-01

To determine the efficacy and safety of the immunostimulant OK-432 (Picibanil) as a treatment option in the management of children with cervicofacial lymphatic malformations. A prospective, randomized, multi-institutional phase II clinical trial at 27 U.S. academic medical centers. 182 patients with lymphatic malformations (LM) were enrolled between January 1998 and November 2004. Of the 151 patients with complete case report forms, 117 patients were randomized into immediate or delayed treatment groups; 34 patients were nonrandomized and assigned to the open-label group. Treatment consisted of a four-dose intralesional injection series of OK-432 at eight-week intervals. Patients randomized into the delayed treatment group served as observational controls for spontaneous regression. Response to therapy was measured radiographically by quantitating change in lesion size and graded as complete (90%-100%), substantial (60%-89%), intermediate (20%-59%), or none (<20%). Of 117 patients randomized with intent-to-treat, 68% demonstrated a complete or substantial response to OK-432 immunotherapy. Response data for macrocystic LM were higher, with a complete or substantial response in 94% of patients; 63% of patients with mixed macrocystic-microcystic LM responded to treatment; no patients with microcystic LM responded to treatment. Spontaneous resolution occurred in less than 2% of patients. Median follow-up of 2.9 years demonstrated a 9% recurrence rate. Major adverse effects related to therapy occurred in 11 patients. As compared to historical surgical data on LM, OK-432 immunotherapy is more effective (P < .001) and has a lower morbidity (P < .001). OK-432 immunotherapy is an effective, safe, and simple treatment option for the management of macrocystic cervicofacial LM. ClinicalTrials.gov Identifier: NCT00010452.

A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.

Science.gov (United States)

Marcadier, Julien L; Mears, Alan J; Woods, Elizabeth A; Fisher, Jamie; Airheart, Cory; Qin, Wen; Beaulieu, Chandree L; Dyment, David A; Innes, A Micheil; Curry, Cynthia J

2016-01-01

PDAC (also termed Matthew Wood) syndrome is a rare, autosomal recessive disorder characterized by pulmonary hypoplasia/aplasia, diaphragmatic defects, bilateral anophthalmia, and cardiac malformations. The disorder is caused by mutations in STRA6, an important regulator of vitamin A and retinoic acid metabolism. We describe six cases from four families of Hmong ancestry, seen over a 30 years period in California. These include: (i) consanguineous siblings with a combination of bilateral anophthalmia, diaphragmatic abnormalities, truncus arteriosus, and/or pulmonary agenesis/hypoplasia; (ii) a singleton fetus with bilateral anophthalmia, pulmonary agenesis, cardiac malformation, and renal hypoplasia; (iii) a sibling pair with a combination of antenatal contractures, camptodactyly, fused palpebral fissures, pulmonary agenesis, and/or truncus arteriosus; (iv) a fetus with bilateral anophthalmia, bushy eyebrows, pulmonary agenesis, heart malformation, and abnormal hand positioning. The phenotypic spectrum of PDAC syndrome has until now not included contractures or camptodactyly. Sequencing of STRA6 in unrelated members of families three and four identified a novel, shared homozygous splice site alteration (c.113 + 3_4delAA) that is predicted to be pathogenic. We hypothesize this may represent a unique disease allele in the Hmong. We also provide a focused review of all published PDAC syndrome cases with confirmed or inferred STRA6 mutations, illustrating the phenotypic and molecular variability that characterizes this disorder. © 2015 Wiley Periodicals, Inc.

Is hysterosalpingography able to diagnose all uterine malformations correctly? A retrospective study

International Nuclear Information System (INIS)

Braun, Petra; Grau, Francisco Vercher; Pons, Raul Mut; Enguix, Daniel Perez

2005-01-01

Background: Muellerian duct anomalies are an uncommon but often a treatable cause of infertility. Material and methods: From January 2002 until November 2003, a total of 705 hysterosalpingographies were realised of which 658 were analysed retrospectively in order to determine the importance of uterine malformations in infertile and sterile patients. In ten cases, the results of hysterosalpingography were compared with hysteroscopy and laparoscopy. Results: The frequency of uterine malformations in infertile and sterile women was 10%. In this population, arcuate uterus (57.6%) was the most common malformation, followed by subseptate uterus (18.2%), uterus bicornis unicollis (10.6%), uterus bicornis bicollis (3.0%), septate uterus (6.1%), unicornuate uterus (3.0%) and unicornuate uterus with double vagina (1.5%). Discussion: Our bibliographic research confirmed that arcuate uterus is the most frequent congenital malformation, but in gestations it does not show a significantly reduced live birth rate. Nevertheless, the septate uterus presents an important decrease of live birth rate that can be improved significantly by doing hysteroscopic metroplasty. As this is a completely different surgical intervention compared to bicornuate uterus, a correct diagnosis is very important. Differentiation of these two malformations is quite difficult by hysterosalpingographic exploration, wherefore an additional exploration by means of endovaginal or three-dimensional ultrasound is recommended

Is hysterosalpingography able to diagnose all uterine malformations correctly? A retrospective study

Energy Technology Data Exchange (ETDEWEB)

Braun, Petra; Grau, Francisco Vercher; Pons, Raul Mut; Enguix, Daniel Perez

2005-02-01

Background: Muellerian duct anomalies are an uncommon but often a treatable cause of infertility. Material and methods: From January 2002 until November 2003, a total of 705 hysterosalpingographies were realised of which 658 were analysed retrospectively in order to determine the importance of uterine malformations in infertile and sterile patients. In ten cases, the results of hysterosalpingography were compared with hysteroscopy and laparoscopy. Results: The frequency of uterine malformations in infertile and sterile women was 10%. In this population, arcuate uterus (57.6%) was the most common malformation, followed by subseptate uterus (18.2%), uterus bicornis unicollis (10.6%), uterus bicornis bicollis (3.0%), septate uterus (6.1%), unicornuate uterus (3.0%) and unicornuate uterus with double vagina (1.5%). Discussion: Our bibliographic research confirmed that arcuate uterus is the most frequent congenital malformation, but in gestations it does not show a significantly reduced live birth rate. Nevertheless, the septate uterus presents an important decrease of live birth rate that can be improved significantly by doing hysteroscopic metroplasty. As this is a completely different surgical intervention compared to bicornuate uterus, a correct diagnosis is very important. Differentiation of these two malformations is quite difficult by hysterosalpingographic exploration, wherefore an additional exploration by means of endovaginal or three-dimensional ultrasound is recommended.

Laser treatment of oral vascular malformations

Science.gov (United States)

Romeo, U.; Gaimari, G.; Mohsen, M.; Tenore, G.; Palaia, G.

2014-01-01

Oral Vascular Malformations (OVM) are congenital anomalies characterized by morph-structural and/or functional changes of nature in severity and extension. OVM can affect any type of vessels arterial, venous or lymphatic and any capillary or anatomical. They are divided into two categories: low and high flow. In this study were treated 40 patients with OVM with a range size from 2 mm to 44 mm; they were subjected to clinical examination supported by Colour-Doppler Ultrasound instrumental examination and only for doubt cases the Magnetic Resonance Imaging (MRI) was prescribed. Only low flow venous and capillary malformations were treated by GaAlAs laser (Wiser®, Lambda, Brindole,Italy, 980nm) and KTP laser (SmartLite®, DEKA, Florence, Italy, 532nm) with two different techniques: the Transmucosal Thermophotocoagulation (TMT) and the Intralesional Photocoagulation (ILP). These techniques permitted a good control of haemostasis, avoiding bleeding both during surgery and in the postoperative. It is obtained an excellent and good healing respectively in 10% and 60% of cases, a moderate and poor resolution respectively in 22.5% and 7.5% of cases. A clear diagnosis allowed the management of Venous malformations (VM) by laser devices with wavelengths highly absorbed in haemoglobin in safety and efficacy and according to the principles of minimal invasive surgery. The aim of this study was to verify if the laser is effective in the treatment of OVM for the purpose of the clinical findings and the postoperative course. The Authors concluded that the laser can be considered the "gold standard" for treating OVM.

Congenital malformations according to etiology in newborns from the floricultural zone of Mexico state.

Science.gov (United States)

Castillo-Cadena, Julieta; Mejia-Sanchez, Fernando; López-Arriaga, Jerónimo Amado

2017-03-01

Birth defects are the number one cause of child mortality worldwide and in 2010 it was the second cause in Mexico. Congenital malformations are a public health issue, because they cause infant mortality, chronic disease and disability. The origin can be genetic, environmental or unknown causes. Among environmental contaminants, pesticides stand out. In this study, we determine the frequency and etiology of congenital malformations in newborns (NBs) of a floricultural community and we compare it with that in the urban community. For 18 months, the NBs were monitored at the Tenancingo General Hospital and the Mother and Child Gynecology and Obstetrics Hospital (IMIEM) in Toluca. The identification of these malformations was carried out in accordance with the WHO. In Tenancingo, 1149 NBs were viewed, where 20% had some kind of congenital malformations. While in the IMIEM, 5069 were reviewed and 6% had some malformation. According to the etiology, in Tenancingo, 69% were multifactorial, 28% were monogenetic and 2% were chromosomal. In the IMIEM, 47% were multifactorial, then 18.3% were monogenetic and 2.8% were chromosomal. There was a significant difference between the global frequency of malformations and the multifactorial etiology of both institutions. Our results show that congenital malformations in the NBs occurred more frequently in the floricultural zone and that because the percentage of multifactorial etiology is higher, it is likely there is an association with exposure to pesticides.

Editorial brain malformation surveillance in the Zika era

Science.gov (United States)

Trevathan, Edwin

2016-01-01

The current surveillance systems for congenital microcephaly are necessary to monitor the impact of Zika virus (ZIKV) on the developing human brain, as well as the ZIKV prevention efforts. However, these congenital microcephaly surveillance systems are insufficient. Abnormalities of neuronal differentiation, development and migration may occur among infants with normal head circumference who have intrauterine exposure to ZIKV. Therefore, surveillance for congenital microcephaly does not ascertain many of the infants seriously impacted by congenital ZIKV infection. Furthermore, many infants with normal head circumference and with malformations of the brain cortex do not have clinical manifestations of their congenital malformations until several months to many years after birth, when they present with clinical manifestations such as seizures/epilepsy, developmental delays with or without developmental regression, and/or motor impairment. In response to the ZIKV threat, public health surveillance systems must be enhanced to ascertain a wide variety of congenital brain malformations, as well as their clinical manifestations that lead to diagnostic brain imaging. Birth Defects Research (Part A) 106:869–874, 2016. © 2016 The Authors Birth Defects Research Part A: Clinical and Molecular Teratology Published by Wiley Periodicals, Inc. PMID:27891785

Cardiovascular malformations in infants of diabetic mothers

OpenAIRE

Wren, C; Birrell, G; Hawthorne, G

2003-01-01

Objective: To compare the prevalence at live birth and the spectrum of cardiovascular malformations in infants born to diabetic mothers with pre-existing diabetes with that in infants of non-diabetic mothers.

Imaging features of ductal plate malformations in adults

Energy Technology Data Exchange (ETDEWEB)

Venkatanarasimha, N., E-mail: nandashettykv@yahoo.com [Department of Radiology, Derriford Hospital, Plymouth (United Kingdom); Thomas, R.; Armstrong, E.M.; Shirley, J.F.; Fox, B.M.; Jackson, S.A. [Department of Radiology, Derriford Hospital, Plymouth (United Kingdom)

2011-11-15

Ductal plate malformations, also known as fibrocystic liver diseases, are a group of congenital disorders resulting from abnormal embryogenesis of the biliary ductal system. The abnormalities include choledochal cyst, Caroli's disease and Caroli's syndrome, adult autosomal dominant polycystic liver disease, and biliary hamartoma. The hepatic lesions can be associated with renal anomalies such as autosomal recessive polycystic kidney disease (ARPKD), medullary sponge kidney, and nephronophthisis. A clear knowledge of the embryology and pathogenesis of the ductal plate is central to the understanding of the characteristic imaging appearances of these complex disorders. Accurate diagnosis of ductal plate malformations is important to direct appropriate clinical management and prevent misdiagnosis.

Diffusion imaging and tractography of congenital brain malformations

International Nuclear Information System (INIS)

Wahl, Michael; Barkovich, A.J.; Mukherjee, Pratik

2010-01-01

Diffusion imaging is an MRI modality that measures the microscopic molecular motion of water in order to investigate white matter microstructure. The modality has been used extensively in recent years to investigate the neuroanatomical basis of congenital brain malformations. We review the basic principles of diffusion imaging and of specific techniques, including diffusion tensor imaging (DTI) and high angular resolution diffusion imaging (HARDI). We show how DTI and HARDI, and their application to fiber tractography, has elucidated the aberrant connectivity underlying a number of congenital brain malformations. Finally, we discuss potential uses for diffusion imaging of developmental disorders in the clinical and research realms. (orig.)

Underdiagnosis of Mild Congenital Anorectal Malformations

NARCIS (Netherlands)

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

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

Congenital cystic lung malformations; Konnatale zystische Lungenfehlbildungen

Energy Technology Data Exchange (ETDEWEB)

Stoever, B.; Scheer, I.; Bassir, C. [Klinik fuer Strahlenheilkunde, Berlin (Germany). Abt. Paediatrische Radiologie, Charite; Mau, H. [Campus Virchow-Klinikum, Klinik fuer Kinderchirurgie, Berlin (Germany); Chaoui, R. [Campus Mitte, Klinik fuer Geburtsmedizin, Berlin (Germany); Henrich, W. [Campus Virchow-Klinikum, Klinik fuer Geburtsmedizin, Berlin (Germany); Schwabe, M. [Campus Mitte, Inst. fuer Pathologie, Berlin (Germany); Wauer, R. [Campus Mitte, Klinik fuer Neonatologie, Berlin (Germany)

2006-04-15

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

Experimental analysis of embryogenesis of cerebellum in rat. II. Morphogenetic malformations following x-ray irradiation on day 18 of gestation

International Nuclear Information System (INIS)

Das, G.D.

1977-01-01

Rat embryos of 18 days gestation were exposed in utero to 170 R of x-ray irradiation. Embryos were collected six hours, 1, 2, and 3 days after irradiation, and animals of 2-, 6-, 15- and 30-day-old postnatal age were sacrificed. Six hours after irradiation pyknosis of cells was noticed in the external granular layer along the posterior aspect of the cerebellum. Neuroblasts, destined to differentiate into Purkinje cells, were found arrested in their migratory path. During subsequent periods of embryogenesis the external granular layer was found recovered, and clustering of the neuroblasts were disorganized and fragmented. This abnormal clustering of neuroblasts was permanent, and the external granular layer followed the same abnormal pattern in its growth. During postnatal development the internal granular layer also was found to follow the abnormal pattern of Purkinje cell layer. Those abnormal developmental events were seen to lead to malformed folia in the anterior regions of the cerebellum. In addition to it the cerebellum of x-ray irradiated animals appeared smaller than the normal. Issues having a bearing on the differential radiosensitivity of different cells, factors determining the small size of the cerebellum, and cellular events determining the morphogenetic malformations are discussed

Severe Klippel-Feil syndrome with Mondini malformation of inner ear.

Science.gov (United States)

Alaqeel, Aqeel Abdullah

2014-01-01

Klippel-Feil syndrome is defined as the fusion of cervical vertebra with associated congenital anomalies but was rarely reported to be associated with Mondini Malformation. We report a newborn girl with severe neck extension, computed tomography (CT) of the neck after birth showed fusion of the fifth, sixth, and seventh cervical vertebrae, compatible with Klippel-Feil Syndrome and CT temporal bone showed choclear dysplasia with incomplete number of turns that is compatible with Mondini Malformation.

Usher syndrome associated with a variant of Dandy-Walker malformation.

Science.gov (United States)

Simsek, Tulay; Ozdamar, Yasemin; Simsek, Enver; Men, Gamze

2010-05-21

Three cases of Usher syndrome associated with a variant of Dandy-Walker malformation in three siblings from consanguineous Turkish parents are described. The siblings had retinitis pigmentosa and hearing loss. Two of the siblings also had mental retardation, which is not a constant finding in Usher syndrome. Dandy-Walker malformation might have contributed to the mental retardation in two of these patients and might be a coincidental finding with Usher syndrome. Copyright 2010, SLACK Incorporated.

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

International Nuclear Information System (INIS)

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

1986-01-01

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

Risk of congenital malformations among children of construction painters in Denmark

DEFF Research Database (Denmark)

Tougaard, Ninna Hahn; Bonde, Jens Peter; Hougaard, Karin Sørig

2015-01-01

OBJECTIVES: Painters' occupational exposure is classified as a group 1 carcinogen by the International Agency for Research on Cancer (IARC). Previous studies have shown increased risk of congenital malformations among children of women exposed to organic solvents and paint emissions during...... pregnancy. In Denmark, women comprise half of those enrolled in vocational paint training. We investigated the association between maternal and paternal occupational painting, respectively, and the risk of congenital malformations among children. METHODS: National register data were used to link childbirths...... diagnoses within the first 10 years of life, when stratifying by maternal age, birth year, and sex, or for paternal construction painters. CONCLUSIONS: This nationwide cohort study is reassuring with no indications of increased risk of congenital malformations among children of male or of female...

Vascular permeability in cerebral cavernous malformations

DEFF Research Database (Denmark)

Mikati, Abdul G; Khanna, Omaditya; Zhang, Lingjiao

2015-01-01

Patients with the familial form of cerebral cavernous malformations (CCMs) are haploinsufficient for the CCM1, CCM2, or CCM3 gene. Loss of corresponding CCM proteins increases RhoA kinase-mediated endothelial permeability in vitro, and in mouse brains in vivo. A prospective case-controlled observ...

Epizootic of ovine congenital malformations associated with Schmallenberg virus infection.

Science.gov (United States)

van den Brom, R; Luttikholt, S J M; Lievaart-Peterson, K; Peperkamp, N H M T; Mars, M H; van der Poel, W H M; Vellema, P

2012-02-01

Epizootic outbreaks of congenital malformations in sheep are rare and have, to the best of our knowledge, never been reported before in Europe. This paper describes relevant preliminary findings from the first epizootic outbreak of ovine congenital malformations in the Netherlands. Between 25 November and 20 December 2011, congenital malformations in newborn lambs on sheep farms throughout the country were reported to the Animal Health Service in Deventer. Subsequently, small ruminant veterinary specialists visited these farms and collected relevant information from farmers by means of questionnaires. The deformities varied from mild to severe, and ewes were reported to have given birth to both normal and deformed lambs; both male and female lambs were affected. Most of the affected lambs were delivered at term. Besides malformed and normal lambs, dummy lambs, unable to suckle, were born also on these farms. None of the ewes had shown clinical signs during gestation or at parturition. Dystocia was common, because of the lambs' deformities. Lambs were submitted for post-mortem examination, and samples of brain tissue were collected for virus detection. The main macroscopic findings included arthrogryposis, torticollis, scoliosis and kyphosis, brachygnathia inferior, and mild-to-marked hypoplasia of the cerebrum, cerebellum and spinal cord. Preliminary data from the first ten affected farms suggest that nutritional deficiencies, intoxication, and genetic factors are not likely to have caused the malformations. Preliminary diagnostic analyses of precolostral serum samples excluded border disease virus, bovine viral diarrhoea virus, and bluetongue virus. In December 2011, samples of brain tissue from 54 lambs were sent to the Central Veterinary Institute of Wageningen University Research, Lelystad. Real-time PCR detected the presence of a virus, provisionally named the Schmallenberg virus, in brain tissue from 22 of the 54 lambs, which originated from seven of eight

[Study of the radioprotective effects of TMG on teratogenic malformations in irradiated mice].

Science.gov (United States)

Gu, Y; Hasegawa, T; Kim, H; Suzuki, I; Mori, T; Yamamoto, Y

2000-12-01

ICR mice fetuses in the organogenesis stage were used to clarify experimentally the mechanism of the protective effect of vitamin E derivant (TMG: 2-(alpha-D-Glucopyranosyl) methyl-2, -5, -7, -8-Teramethylchorman-6-working woman) on the effects of radiation. The authors paid careful attention to radiation, and the radioprotective effects of TMG on the induction of malformations was examined. Radiation is an important consideration because of its widespread use in the areas of medicine, nuclear energy, and industry. Malformations induced by radiation at the organogenesis stage, skeletal malformations, and the effects at the cellular level of embryos were examined in this research. Further, the mechanism of the protection effect of TMG against radiation-induced malformations was analyzed and observed experimentally. Thus, this study was done to provide fundamental data on the radioprotective agent TMG. It was clear that TMG exerted radioprotective effects against embryonic death and the rate of teratogenesis when administered before exposure. Such effects were also exerted against skeletal malformations and fetal body weight. In summary, radioprotective effects were observed at the whole-body level as well as at the cellular level.

Study of the radioprotective effects of TMG on teratogenic malformations in irradiated mice

International Nuclear Information System (INIS)

Gu, Yeunhwa; Hasegawa, Takeo; Suzuki, Ikukatsu; Mori, Takehiko; Yamamoto, Youichi; Kim, Hwakon

2000-01-01

ICR mice fetuses in the organogenesis stage were used to clarify experimentally the mechanism of the protective effect of vitamin E derivant (TMG: 2- (α-D-Glucopyranosyl) methyl-2, -5, -7, -8-Teramethylchorman-6-working woman) on the effects of radiation. The authors paid careful attention to radiation, and the radioprotective effects of TMG on the induction of malformations was examined. Radiation is an important consideration because of its widespread use in the areas of medicine, nuclear energy, and industry. Malformations induced by radiation at the organogenesis stage, skeletal malformations, and the effects at the cellular level of embryos were examined in this research. Further, the mechanism of the protection effect of TMG against radiation-induced malformations was analyzed and observed experimentally. Thus, this study was done to provide fundamental data on the radioprotective agent TMG. It was clear that TMG exerted radioprotective effects against embryonic death and the rate of teratogenesis when administered before exposure. Such effects were also exerted against skeletal malformations and fetal body weight. In summary, radioprotective effects were observed at the whole-body level as well as at the cellular level. (author)

Screening for congenital malformations by ultrasonography in the general population of pregnant women

DEFF Research Database (Denmark)

Tabor, Ann; Zdravkovic, Milica; Perslev, Annette

2003-01-01

. Fetuses with a prenatally undetected malformation were more often examined by more than one sonographer than fetuses without congenital malformations. Workload or monotony did not seem to affect the efficacy of screening. There was a trend towards a lower detection rate at midday and when most......OBJECTIVES: To assess whether the efficacy of screening for fetal malformations is affected by patient-, staff-, team- or work environment-related factors. METHODS: A prospective cohort study was carried out at a Danish university hospital with 4000 deliveries per year. In total, 7963 fetuses were...... malformations were detected in 100 fetuses or infants, corresponding to an incidence of 1.3%. The prenatal DR was 60%. High maternal body mass index (BMI) was associated with a lower DR, while the presence of twins, the gestational age at time of screening and the sonographer's level of experience were not...

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

Science.gov (United States)

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

2016-03-01

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

Malformations of the midline commissures: MRI findings in different forms of callosal dysgenesis

International Nuclear Information System (INIS)

Kueker, W.; Mader, I.; Naegele, T.; Mayrhofer, H.; Kraegeloh-Mann, I.

2003-01-01

Malformations of the corpus callosum (CC) may occur in many different syndromes. Various forms have been observed. We report seven cases of malformation of the CC. Special attention is directed towards the development of the fornix and hippocampus as a hippocampal commissure is a prerequisite of normal hippocampal development. The clinical disability of the patients presented here differed significantly, which may in part be due to the different extent of this cerebral malformation. The relevance of the concomitant aplasia of the limbic system has not been addressed in detail previously in the literature. (orig.)

Acquired uterine vascular malformations: radiological and clinical outcome after transcatheter embolotherapy

Energy Technology Data Exchange (ETDEWEB)

Maleux, Geert; Heye, Sam; Wilms, Guy [University Hospitals Gasthuisberg, Department of Radiology, Leuven (Belgium); Timmerman, Dirk [University Hospitals Gasthuisberg, Department of Obstetrics and Gynecology, Leuven (Belgium)

2006-02-01

The purpose of this retrospective study is to assess the radiological and clinical outcome of transcatheter embolization of acquired uterine vascular malformations in patients presenting with secondary postpartum or postabortion vaginal hemorrhage. In a cohort of 17 patients (mean age: 29.7 years; standard deviation: 4.23; range: 25-38 years) 18 embolization procedures were performed. Angiography demonstrated a uterine parenchymal hyperemia with normal drainage into the large pelvic veins (''low-flow uterine vascular malformation'') in 83% (n=15) or a direct arteriovenous fistula (''high-flow uterine vascular malformation'') in 17% (n=3). Clinically, in all patients the bleeding stopped after embolization but in 1 patient early recurrence of hemorrhage occurred and was treated by hysterectomy. Pathological analysis revealed a choriocarcinoma. During follow-up (mean time period: 18.8 months; range: 1-36 months) 6 patients became pregnant and delivered a healthy child. Transcatheter embolization of the uterine arteries, using microparticles, is safe and highly effective in the treatment of a bleeding acquired uterine vascular malformation. In case of clinical failure, an underlying neoplastic disease should be considered. Future pregnancy is still possible after embolization. (orig.)

Maternal reproductive history and the risk of isolated congenital malformations.