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Total 442 results found since Jan 2013.

Metabolic Changes of Brain Developmental Venous Anomalies on 18F-FDG-PET
ConclusionAltered metabolism is seen in the drainage territory of a significant proportion of DVAs, suggesting that these anomalies are vascular lesions with abnormal physiologic features.
Source: Academic Radiology - July 10, 2018 Category: Radiology Source Type: research

Arthrogryposis in children: Etiological assessments and preparation of a protocol for etiological investigations.
CONCLUSION: Arthrogryposis is a sign suggesting multiple etiologies. The main ones are neurological. Several genes have recently been identified, explaining the physiopathological mechanisms. The diagnostic process must be rigorous and coordinated within a multidisciplinary team, following a shared protocol for analysis. PMID: 29914754 [PubMed - as supplied by publisher]
Source: Archives de Pediatrie - June 15, 2018 Category: Pediatrics Authors: Wallach E, Walther-Louvier U, Espil-Taris C, Rivier F, Baudou E, Cances C Tags: Arch Pediatr Source Type: research

Polymicrogyria in association with hypoglycemia points to mutation in the PI3K-AKT-mTOR pathway.
We report a 16-month-old male with congenital megalencephaly, polymicrogyria and persistent hypoglycemia caused by a mosaic PIK3CA pathogenic variant. Hypoinsulinaemic, hypoketotic hypoglycaemia is a rare complication of pathogenic variants in the PI3K-AKT-mTOR pathway genes including AKT2, AKT3, CCND2, PIK3R2 and PIK3CA, and has been identified in a PIK3CA mutant mouse model. Our case highlights the importance of considering PI3K-AKT-mTOR pathway variants as a cause for megalencephaly and cortical malformation when the phenotype includes hypoglycaemia. Recognizing the association of hypoglycemia with PI3K-AKT-mTOR pathway...
Source: European Journal of Medical Genetics - June 5, 2018 Category: Genetics & Stem Cells Authors: Stutterd C, McGillivray G, Stark Z, Messazo B, Cameron F, White S, Mirzaa G, Leventer R Tags: Eur J Med Genet Source Type: research

Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.
Abstract Biallelic mutations in the RTTN gene have been reported in association with microcephaly, short stature, developmental delay and malformations of cortical development. RTTN mutations have previously shown to link aberrant ciliary function with abnormal development and organization of the human cerebral cortex. We here report three individuals from two unrelated families with novel mutations in the RTTN gene. The phenotype consisted of microcephaly, short stature, pachygyria or polymicrogyria, colpocephaly, hypoplasia of the corpus callosum and superior vermis. These findings provide further confirmation o...
Source: European Journal of Medical Genetics - June 5, 2018 Category: Genetics & Stem Cells Authors: Stouffs K, Moortgat S, Vanderhasselt T, Vandervore L, Dica A, Mathot M, Keymolen K, Seneca S, Gheldof A, De Meirleir L, Jansen AC Tags: Eur J Med Genet Source Type: research

Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria
Annals of Neurology,Volume 0, Issue ja, -Not available-.
Source: Annals of Neurology - May 9, 2018 Category: Neurology Authors: SatokoMiyatake M.D., Ph.D. , MitsuhiroKato M.D., Ph.D. , YukioSawaishi M.D., Ph.D. , TakashiSaito M.D. , MitsukoNakashima M.D., Ph.D. , TakeshiMizuguchi M.D., Ph.D. , SatomiMitsuhashi M.D., Ph.D. , AtsushiTakata M.D., Ph.D. , Source Type: research

< i > De novo < /i > and inherited private variants in < i > MAP1B < /i > in periventricular nodular heterotopia
by Erin L. Heinzen, Adam C. O'Neill, Xiaolin Zhu, Andrew S. Allen, Melanie Bahlo, Jamel Chelly, William B. Dobyns, Saskia Freytag, Renzo Guerrini, Richard J. Leventer, Annapurna Poduri, Stephen P. Robertson, Christopher A. Walsh, Mengqi Zhang, for the Epi4K Consortium , Epilepsy Phenome/Genome Project Periventricular nodular heterotopia (PVNH) is a malformation of cortical development commonly associated with epilepsy. We exome sequenced 202 individuals with sporadic PVNH to identify novel genetic risk loci. We first performed a trio-based analysis and identified 219de novo variants. Although no novel genes were implicate...
Source: PLoS Genetics - May 8, 2018 Category: Genetics & Stem Cells Authors: Erin L. Heinzen Source Type: research

Septo-optic Dysplasia
ConclusionOlfactory sulcus and bulb-tract hypoplasia are fairly common in septo-optic dysplasia and can be discordant between sides. Of the other associated anomalies, anterior falx dysplasia seems to be the most common.
Source: Clinical Neuroradiology - April 16, 2018 Category: Neurology Source Type: research

A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus
Neuropediatrics DOI: 10.1055/s-0038-1641722 Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Full text
Source: Neuropediatrics - April 11, 2018 Category: Neurology Authors: Maini, I. Farnetti, E. Caraffi, S.G. Ivanovski, I. De Bernardi, M.L. Gelmini, C. Pollazzon, M. Rosato, S. Laurie, S. Matalonga, L. Baldo, C. Garavelli, L. Tags: Letter to the Editor Source Type: research

Effectiveness of total corpus callosotomy for diffuse bilateral polymicrogyria: Report of three pediatric cases
Polymicrogyria, a malformation of the cerebral cortex, frequently causes epilepsy. Diffuse bilateral polymicrogyria (DBP) is related to poor epilepsy prognosis, but most patients with DBP are not good candidates for resective epilepsy surgery and effectiveness of corpus callosotomy (CC), a palliative surgery, for patients without resective epileptogenic cortices, has not been established in DBP. Because CC might be effective against DBP-related epilepsy, we conducted total CC in three pediatric DBP cases.
Source: Brain and Development - April 3, 2018 Category: Neurology Authors: Shimpei Baba, Tohru Okanishi, Mitsuyo Nishimura, Sotaro Kanai, Shinji Itamura, Takayuki Suzuki, Yosuke Masuda, Hideo Enoki, Ayataka Fujimoto Tags: Case report Source Type: research

"Twig-like" cerebral vessels are not pathognomonic for ACTA A2 mutations: A case report.
We describe a one-and-a half year-old girl child who presented with mild motor developmental delay and on neuroimaging showed septo-preoptic holoprosencephaly, diffuse radial polymicrogyria, and pontine hypoplasia along with magnetic resonance angiographic features suggestive of ACTA2 mutation type of cerebral vessels. However, genetic studies revealed no evidence of ACTA2 mutation, indicating that the "twig-like" pattern may not only be a pathognomonic feature of ACTA2 mutations. PMID: 29591721 [PubMed - as supplied by publisher]
Source: Interventional Neuroradiology - March 30, 2018 Category: Radiology Tags: Interv Neuroradiol Source Type: research

Phosphatidylinositol ‐4,5‐bisphosphate 3‐kinase catalytic subunit alpha (PIK3CA)‐related overgrowth spectrum: A brief report
Abstract A patient with extensive multisystem overgrowth caused by a somatic gain of function PIK3CA‐mutation is described. This case is an example of the clinical diversity of the PIK3CA‐Related Overgrowth Spectrum (PROS) as the patient had overlapping features of Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi and Skeletal abnormalities (CLOVES) syndrome and Megalencephaly‐Capillary malformation Polymicrogyria (MCAP) syndrome and underlines the utility of this umbrella term.
Source: Pediatric Dermatology - March 1, 2018 Category: Dermatology Authors: Pieter Denorme, Marie ‐Anne Morren, Silke Hollants, Marijke Spaepen, Kate Suaer, Nele Zutterman, Veerle Labarque, Eric Legius, Hilde Brems Tags: BRIEF REPORT Source Type: research

Polymicrogyria and GRIN1 mutations: altered connections, altered excitability
This scientific commentary refers to ‘De novo mutations inGRIN1 cause extensive bilateral polymicrogyria ’, by Fryet al. (doi:10.1093/brain/awx358).
Source: Brain - February 27, 2018 Category: Neurology Source Type: research