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Total 442 results found since Jan 2013.

Large Congenital Facial Teratoma Associated With Neurological Migration Disorder (Polymicrogyria) and Absent Corpus Callosum
Conclusion: Due to poor initial prognosis further treatment of the facial malignancy was not feasible. However, initial, early postnatal, excisional surgery provided a prolonged and better quality of life for the patient and family.
Source: Journal of Craniofacial Surgery - January 1, 2021 Category: Surgery Tags: Brief Clinical Studies Source Type: research

Fetal magnetic resonance imaging: supratentorial brain malformations
AbstractFetal MRI is the modality of choice to study supratentorial brain malformations. To accurately interpret the MRI, the radiologist needs to understand the normal sequence of events that occurs during prenatal brain development; this includes familiarity with the processes of hemispheric cleavage, formation of interhemispheric commissures, neuro-glial proliferation and migration, and cortical folding. Disruption of these processes results in malformations observed on fetal MRI including holoprosencephaly, callosal agenesis, heterotopic gray matter, lissencephaly and other malformations of cortical development (focal ...
Source: Pediatric Radiology - November 30, 2020 Category: Radiology Source Type: research

Polymicrogyria with calcification in Pallister-Killian syndrome detected by microarray analysis
Pallister-Killian syndrome (PKS) is a rare disorder caused by the mosaic tetrasomy of chromosome 12p, and is characterized by facial dysmorphism, developmental delay, hypotonia and seizures.
Source: Brain and Development - November 20, 2020 Category: Neurology Authors: Akiko Hiraiwa, Kou Matsui, Yumi Nakayama, Takao Komatsubara, Shinichi Magara, Yu Kobayashi, Moemi Hojo, Mitsuhiro Kato, Toshiyuki Yamamoto, Jun Tohyama Tags: Case Report Source Type: research

MRI findings in children with congenital cytomegalovirus infection retrospectively diagnosed with dried umbilical cord
ConclusionPatients with congenital CMV infection with delayed neurological symptoms show a relatively uniform pattern of parietal-dominant multifocal WM lesions and anterior temporal lesions, with or without polymicrogyria.
Source: Neuroradiology - November 17, 2020 Category: Radiology Source Type: research

Excitatory/Inhibitory Synaptic Ratios in Polymicrogyria and Down Syndrome help explain epileptogenesis in malformations
The ratio between excitatory (glutamatergic) and inhibitory (GABAergic) inputs into maturing individual cortical neurons influences their epileptic potential. Structural factors during development that alter synaptic inputs can be demonstrated neuropathologically. Increased mitochondrial activity identifies neurons with excessive discharge rates.
Source: Pediatric Neurology - November 4, 2020 Category: Neurology Authors: Harvey B. Sarnat, Laura Flores-Sarnat Tags: Review Article Source Type: research

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
AbstractBi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to prototypical yet poorly understood forms of childhood-onset and complex hereditary spastic paraplegia: SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1) and SPG52 (AP4S1). Here, we report a detailed cross-sectional analysis of clinical, imaging and molecular data of 156 patients from 101 families. Enrolled patients were of diverse ethnic backgrounds and covered a wide age range (1.0 –49.3 years). While the mean age at symptom onset was 0.8 ± 0.6 years [standard deviation (SD), range 0.2–5.0], the mean a...
Source: Brain - September 26, 2020 Category: Neurology Source Type: research

Mosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delay
AbstractPolymicrogyria (PMG) is a developmental cortical malformation characterized by an excess of small and frustrane gyration and abnormal cortical lamination. PMG frequently associates with seizures. The molecular pathomechanisms underlying PMG development are not yet understood. About 40 genes have been associated with PMG, and small copy number variations have also been described in selected patients. We recently provided evidence that epilepsy-associated structural brain lesions can be classified based on genomic DNA methylation patterns. Here, we analyzed 26 PMG patients employing array-based DNA methylation profil...
Source: Acta Neuropathologica - September 25, 2020 Category: Neurology Source Type: research

The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation
We present a girl with the typical clinical picture of a CBPS and a complex migration disorder, predominantly presenting as bilateral symmetrical polymicrogyria associated with corpus callosum hyperplasia, ventricular dilation, and pontine hypoplasia. At the age of 6 months, the girl showed a profound global developmental delay, seizures refractory to treatment, and severe oromotor dysfunction. Exome analysis revealed a de novo mutation in microtubule-associated serine/threonine kinase 1 (MAST1). Recently, mutations in this gene were described in six patients with a cortical migration disorder named mega-corpus-callosum sy...
Source: Neuropediatrics - August 19, 2020 Category: Neurology Authors: Hecher, Laura Johannsen, Jessika Bierhals, Tatjana Buhk, Jan-Hendrik Hempel, Maja Denecke, Jonas Tags: Short Communication Source Type: research

Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25 -related: polymicrogyria as a distinctive neuroradiological finding
This report further delineates the most common clinical features of BVSYS and points to polymicrogyria as a distinctive neuroradiological feature of this syndrome.
Source: Neurogenetics - August 19, 2020 Category: Genetics & Stem Cells Source Type: research

Characterizing White Matter Tract Organization in Polymicrogyria and Lissencephaly: A Multifiber Diffusion MRI Modeling and Tractography Study FUNCTIONAL
CONCLUSIONS: We demonstrated a range of white matter tract structural abnormalities in patients with polymicrogyria and lissencephaly. The patterns of white matter tract involvement are related to polymicrogyria and lissencephaly subgroups, distribution, and, possibly, their underlying etiologies.
Source: American Journal of Neuroradiology - August 11, 2020 Category: Radiology Authors: Arrigoni, F., Peruzzo, D., Mandelstam, S., Amorosino, G., Redaelli, D., Romaniello, R., Leventer, R., Borgatti, R., Seal, M., Yang, J. Y.- M. Tags: FUNCTIONAL Source Type: research

Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) belongs to a group of conditions called the PIK3CA-related overgrowth spectrum (PROS). The varying phenotypes and low frequencies of each somat...
Source: Orphanet Journal of Rare Diseases - August 10, 2020 Category: Internal Medicine Authors: Hyun Jin Park, Chang Ho Shin, Won Joon Yoo, Tae-Joon Cho, Man Jin Kim, Moon-Woo Seong, Sung Sup Park, Jeong Ho Lee, Nam Suk Sim and Jung Min Ko Tags: Research Source Type: research

Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights.
This article is protected by copyright. All rights reserved. PMID: 32740904 [PubMed - as supplied by publisher]
Source: Clinical Genetics - August 1, 2020 Category: Genetics & Stem Cells Authors: Abdel-Hamid MS, Abdel-Ghafar SF, Ismail SR, Desouky LM, Issa MY, Effat LK, Zaki MS Tags: Clin Genet Source Type: research

Prenatal cranial MR findings in fetuses with suspected CMV infection: Correlation with postnatal outcome and differential diagnostic considerations
ConclusionsPolymicrogyria in fetuses with cCMV, undetected with prenatal US, was associated with CP. Germinolytic cysts were non ‐specific for cCMV and due to mitochondrial disorders when callosal hypogenesis was present.
Source: Journal of Medical Imaging and Radiation Oncology - July 26, 2020 Category: Radiology Authors: Stacy Goergen, Zhengjie Lim, Jenni Clark, Mark Teoh, Kedar Humnabadkar, Michael Fahey, Michelle Giles Tags: Medical Imaging —Original Article Source Type: research

An Unusual, Intermediate-Sized Lesion Affecting Motor Organization in a Patient With Schizencephaly: A Case Report
Schizencephalies are abnormal clefts of the cerebral hemispheres that result from abnormal late neuronal migration and cortical organization. In the present study, we report a different type of unusual motor organization in a patient with a schizencephalic cleft in the right hemisphere and polymicrogyria in the opposite hemisphere. Despite similar brain pathology affecting the sensorimotor cortex, motor organization differed from previously known bilateral congenital brain lesions. We conducted a transcranial magnetic stimulation (TMS) and diffusion tensor image (DTI) study to confirm the motor organization. In this case, ...
Source: Frontiers in Human Neuroscience - July 9, 2020 Category: Neuroscience Source Type: research

Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings.
In conclusion, this is the first report in which maternal germline mosaicism of a rare pathogenic AKT3 variant leads to autosomal dominantly inherited MPPH syndrome. PMID: 32446860 [PubMed - as supplied by publisher]
Source: Experimental and Molecular Pathology - May 20, 2020 Category: Pathology Authors: Szalai R, Melegh BI, Till A, Ripszam R, Csabi G, Acharya A, Schrauwen I, Leal SM, Komoly S, Kosztolanyi G, Hadzsiev K Tags: Exp Mol Pathol Source Type: research