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Total 442 results found since Jan 2013.
Mutations of KIF5C cause a neurodevelopmental disorder of infantile ‐onset epilepsy, absent language, and distinctive malformations of cortical development
The clinical diagnosis of malformations of cortical development (MCDs) is often challenging due to the complexity of the brain malformation by neuroimaging, the rarity of individual malformation syndromes, and the rapidly evolving genetic landscape of these disorders facilitated with the use of Next Generation Sequencing (NGS) methods. While the clinical and molecular diagnosis of severe cortical malformations, such as classic lissencephaly, is often straightforward, the diagnosis of more subtle and complex types of cortical malformations, such as pachygyria and polymicrogyria (PMG), can be more challenging due to limited ...
Source: American Journal of Medical Genetics Part A - October 19, 2017 Category: Genetics & Stem Cells Authors: Savannah Michels, Kimberly Foss, Kaylee Park, Katie Golden ‐Grant, Russell Saneto, Jonathan Lopez, Ghayda M. Mirzaa Tags: CLINICAL REPORT Source Type: research
Response to correspondence on “A better understanding of brain involvement in 22q11.2 deletion syndrome”
We thank Dr. Del Giudice for an insightful commentary on our study.1 We agree that neurological manifestations of the 22q11.2 deletion syndrome are underappreciated because of the involvement of several organ systems in this disorder. The recent study by Bohm et al.2 describing neuroradiographic findings in this syndrome confirms that neuronal migrational abnormalities such as polymicrogyria are common, similar to our results. Bohm et al. also found developmental midline anomalies such as cavum septum pellucidum and cavum verge and vascular anomalies (a single patient with a hypoplastic internal carotid artery) in their patients.
Source: Pediatric Neurology - October 11, 2017 Category: Neurology Authors: Basanagoud Mudigoudar, James W. Wheless Tags: Correspondence Source Type: research
Authors Reply
We thank Dr.Ennio Del Giudice for insightful commentary on our study (1). We agree that neurological manifestations of 22q11.2 deletion syndrome are under-appreciated due to the involvement of several organ systems in this disorder. The recent study by Bohm et al (2) describing neuroradiographic findings in this syndrome confirms that neuronal migrational abnormalities like polymicrogyria are common, similar to our results. They also found developmental midline anomalies such as cavum septum pellucidum and/or cavum verge and vascular anomalies (a single patient with a hypoplastic internal carotid artery) in their patients (2).
Source: Pediatric Neurology - October 11, 2017 Category: Neurology Authors: Basanagoud Mudigoudar, James W. Wheless Tags: Correspondence Source Type: research
Genetics and mechanisms leading to human cortical malformations
Publication date: Available online 11 October 2017 Source:Seminars in Cell & Developmental Biology Author(s): Delfina M. Romero, Nadia Bahi-Buisson, Fiona Francis Cerebral cortical development involves a complex series of highly regulated steps to generate the laminated structure of the adult neocortex. Neuronal migration is a key part of this process. We provide here a detailed review of cortical malformations thought to be linked to abnormal neuronal migration. We have focused on providing updated views related to perturbed mechanisms based on the wealth of genetic information currently available, as well as the...
Source: Seminars in Cell and Developmental Biology - October 11, 2017 Category: Cytology Source Type: research
Hypoglycaemia Represents a Clinically Significant Manifestation of PIK3CA- and CCND2-Associated Segmental Overgrowth.
We report a cohort of 6 children with megalencephaly-capillary malformation syndrome (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus syndrome (MPPH) who developed clinically significant hypoglycaemia. Based on our findings, we suggest that segmental overgrowth patients should be screened for low blood glucose levels during childhood and there should be early specialist endocrine review in any children who develop hypoglycaemia.
PMID: 28941273 [PubMed - as supplied by publisher]
Source: Clinical Genetics - September 23, 2017 Category: Genetics & Stem Cells Authors: Jh MD, Hickson N, Banerjee I, Murray PG, Ram D, Metcalfe K, Clayton-Smith J, Douzgou S Tags: Clin Genet Source Type: research
EP03.07: Prenatal diagnosis of 22q11.2 microdeletion: minor cardiac finding detected in mid ‐trimester scan associated with severe bilateral perisylvian polymicrogyria in late gestation
Source: Ultrasound in Obstetrics and Gynecology - September 16, 2017 Category: Radiology Authors: B. Weizman, H. Bakry, K.K. Haratz, L. Gindes, M. Tamarkin, S. Sagie, I. Shapiro, G. Cohen, L. Ben ‐Sira, D. Lev, T. Lerman‐Sagie, Z. Leibovitz Tags: Abstracts Source Type: research
Adams –Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations
We present a case of type 2 autosomal recessive AOS associated with heterozygous mutations in the dedicator of cytokinesis 6 (DOCK6) gene, with characteristic findings of ACC, TTLD, intracerebral periventricular calcifications, and polymicrogyria.
Source: Pediatric Dermatology - September 8, 2017 Category: Dermatology Authors: Krystal M. Jones, Annika Silfvast ‐Kaiser, David R. Leake, Lucia Z. Diaz, Moise L. Levy Tags: Case Report Source Type: research
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly
AbstractMutations of genes within the phosphatidylinositol-3-kinase (PI3K)-AKT-MTOR pathway are well known causes of brain overgrowth (megalencephaly) as well as segmental cortical dysplasia (such as hemimegalencephaly, focal cortical dysplasia and polymicrogyria). Mutations of theAKT3 gene have been reported in a few individuals with brain malformations, to date. Therefore, our understanding regarding the clinical and molecular spectrum associated with mutations of this critical gene is limited, with no clear genotype –phenotype correlations. We sought to further delineate this spectrum, study levels of mosaicism and id...
Source: Brain - September 7, 2017 Category: Neurology Source Type: research
Polymicrogyria and Intractable Epilepsy in Siblings with Knobloch Syndrome and Homozygous Mutation of COL18A1
We present an unusual case of two brothers with severe global developmental delay, medically intractable epilepsy, diffuse polymicrogyria, and high myopia, born to non-consanguineous parents of Palestinian ethnicity.
Source: Pediatric Neurology - August 15, 2017 Category: Neurology Authors: Brittany A. Charsar, Ethan M. Goldberg Tags: Clinical Letter Source Type: research
Congenital Perisylvian Syndrome presenting as Post-partum Seizures with Preeclampsia.
We report the case of a patient with pre-eclampsia who developed seizures after more than 2 days of delivery. In view of late onset postpartum seizures and non-responsiveness to magnesium sulphate, she was further evaluated and diagnosed to have congenital perisylvian syndrome(CPS). In CPS, polymicrogyric cortex is distributed in variable extensions around the sylvian fissure i.e. a structural malformation of the brain with underlying anomaly of polymicrogyria.
PMID: 28782324 [PubMed - in process]
Source: Journal of the Association of Physicians of India - August 9, 2017 Category: General Medicine Tags: J Assoc Physicians India Source Type: research
Homozygous Nonsense Mutation in SCHIP1/IQCJ-SCHIP1 Causes a Neurodevelopmental Brain Malformation Syndrome.
We report a consanguineous Arab family with three affected siblings who display a disorder of global developmental delay, learning difficulties, facial dysmorphism, hearing impairments, and cataract. The clinical phenotype was associated with characteristic brain Magnetic Resonance Imaging (MRI) features of axonal guidance defects involving anterior commissure agenesis as well as scattered areas of polymicrogyria-cobblestone complex. Whole genome sequencing revealed a novel nonsense mutation (159609921C>T) that segregated in the family consistent in an autosomal recessive pattern. This mutation located in the C-terminal...
Source: Clinical Genetics - August 8, 2017 Category: Genetics & Stem Cells Authors: Elsaid M, Chalhoub N, Ben-Omran T, Kamel H, Al Mureikhi M, Ibrahim K, Ross ME, Abdel Aleem A Tags: Clin Genet Source Type: research
Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities
Vascular Ehlers–Danlos syndrome (type IV) is an autosomal dominant disorder caused by heterozygous variants of COL3A1. We identified biallelic COL3A1 variants in two unrelated families. In a 3‐year‐old female with developmental delay the nonsense variant c.1282C>T, p.(Arg428*) was detected in combination the c.2057delC, p.(Pro686Leufs*105) frame shift variant. Both compound heterozygous variants were novel. This patient was born with bilateral clubfoot, joint laxity, and dysmorphic facial features. At the age of 2 years she developed an aneurysmal brain hemorrhage. Cerebral MRI showed a peculiar pattern of profoun...
Source: American Journal of Medical Genetics Part A - July 25, 2017 Category: Genetics & Stem Cells Authors: Denise Horn, Eberhard Siebert, Ulrich Seidel, Imma Rost, Karin Mayer, Rami Abou Jamra, Diana Mitter, Uwe Kornak Tags: CLINICAL REPORT Source Type: research
Update on classification and diagnosis of vascular malformations
Purpose of review: This review provides an update of the classification in the classification of vascular anomalies since April 2014 at the International Society for the Study of Vascular Anomalies meeting in Melbourne, Australia.
Recent findings: The reader will become familiar with how to diagnose the major vascular malformations, including capillary, venous, arteriovenous, and lymphatic and combinations thereof. In addition, vascular malformation syndromes, including those with overgrowth, will be clarified.
Summary: Vascular malformations are common. Capillary malformations are now better understood through an update...
Source: Current Opinion in Pediatrics - July 13, 2017 Category: Pediatrics Tags: DERMATOLOGY: Edited by Joyce M. C. Teng Source Type: research
Nonmicrocephalic Infants with Congenital Zika Syndrome Suspected Only after Neuroimaging Evaluation Compared with Those with Microcephaly at Birth and Postnatally: How Large Is the Zika Virus "Iceberg"? PEDIATRICS
CONCLUSIONS:
In microcephaly at birth, except for polymicrogyria, all patients showed abnormalities described in the literature. In postnatal microcephaly, the only abnormalities not seen were a simplified gyral pattern and calcifications outside the cortico-subcortical junction. Infants with normocephaly presented with asymmetric frontal polymicrogyria, calcifications in the cortico-subcortical junction, mild ventriculomegaly, and delayed myelination.
Source: American Journal of Neuroradiology - July 12, 2017 Category: Radiology Authors: Aragao, M. F. V. V., Holanda, A. C., Brainer-Lima, A. M., Petribu, N. C. L., Castillo, M., van der Linden, V., Serpa, S. C., Tenorio, A. G., Travassos, P. T. C., Cordeiro, M. T., Sarteschi, C., Valenca, M. M., Costello, A. Tags: PEDIATRICS Source Type: research
Value of Repeat Brain MRI in Children with Focal Epilepsy and Negative Findings on Initial MRI.
CONCLUSION: Repeat MRI revealed positive results in 21% of the children with initial MRI-negative focal epilepsy, with 50% of the positive results considered as potential epileptogenic lesions. Enhanced MRI techniques or considering the chronological changes of lesions on MRI may improve the diagnostic yield for identification of potential epileptogenic lesions on repeat MRI.
PMID: 28670168 [PubMed - in process]
Source: Korean J Radiol - July 1, 2017 Category: Radiology Authors: Jeon TY, Kim JH, Lee J, Yoo SY, Hwang SM, Lee M Tags: Korean J Radiol Source Type: research
