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Pediatric Neurology Briefs Nov 2015Investigators from Sainte Justine Hospital (Montreal), Montreal Neurological Hospital and Institute, King's College Hospital (London), and John Radcliffe Hospital...
Investigators from Sainte Justine Hospital (Montreal), Montreal Neurological Hospital and Institute, King's College Hospital (London), and John Radcliffe Hospital (Oxford) retrospectively reviewed medical records, autopsy reports, and genetic studies containing "Polymicrogyria."
PubMed: 26933543
DOI: 10.15844/pedneurbriefs-29-11-5 -
No To Shinkei = Brain and Nerve Aug 1999
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BMJ Case Reports Sep 2023This case report presents a patient with a monochorionic twin pregnancy, development of twin-twin transfusion-syndrome (TTTS) and polymicrogyria (PMG) of one fetus. Due...
This case report presents a patient with a monochorionic twin pregnancy, development of twin-twin transfusion-syndrome (TTTS) and polymicrogyria (PMG) of one fetus. Due to TTTS grade 3, fetoscopic laser ablation was performed at gestational week 16+1. Sonographic follow-up showed a cortical malformation of the right parietal lobe in the former donor, which was identified as PMG by MRI scans. We describe the course of the pregnancy, as well as the clinical, especially neurological, development of the child over 3 years. This case report documents the power of neuroplasticity, leading to comparably good neurological outcome in an extensive, likely acquired cortical malformation. Further, it emphasises the importance of a thorough prenatal imaging characterisation of malformations of cortical development for optimal prenatal counselling of these cases.
Topics: Child; Female; Pregnancy; Humans; Polymicrogyria; Fetofetal Transfusion; Patients; Fetoscopy; Fetus
PubMed: 37739446
DOI: 10.1136/bcr-2023-255510 -
The Canadian Journal of Neurological... Nov 2020Megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome (OMIM #602501) is characterized by megalencephaly, midline capillary malformations, and cortical...
Megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome (OMIM #602501) is characterized by megalencephaly, midline capillary malformations, and cortical malformations. This genetic overgrowth syndrome is associated with mosaic gain-of-function pathogenic PIK3CA variants (OMIM #171834).
Topics: Capillaries; Humans; Megalencephaly; Mutation; Polymicrogyria; Vascular Malformations; Venous Thrombosis
PubMed: 32631464
DOI: 10.1017/cjn.2020.127 -
Child's Nervous System : ChNS :... Oct 2022Aventriculy is a very rare observation and is generally associated with holoprosencephaly. We report here a case of polymalformation affecting the brain, hands, and feet...
INTRODUCTION
Aventriculy is a very rare observation and is generally associated with holoprosencephaly. We report here a case of polymalformation affecting the brain, hands, and feet observed in a highly consanguineous family in Niger.
CASE REPORT
A boy was born from a highly consanguineous family presenting multiple malformations (aventriculy, extreme microcephaly, polydactyly, polymicrogyria, callosal agenesis, and parietal encephalocele). To the best of our knowledge, such association has never been reported so far.
DISCUSSION
We propose to name this association PAPEC (for polymicrogyria, aventriculy, polydactyly, encephalocele, and callosal agenesis). The occurrence of this disease in a highly consanguineous family suggests a genetic origin. Furthermore, we propose hypotheses that could explain pathophysiology of this defect.
Topics: Agenesis of Corpus Callosum; Encephalocele; Humans; Male; Polydactyly; Polymicrogyria; Syndrome
PubMed: 35476093
DOI: 10.1007/s00381-022-05529-0 -
Annals of Neurology Dec 2020Congenital structural brain malformations have been described in patients with pathogenic phosphatase and tensin homologue (PTEN) variants, but the frequency of cortical...
OBJECTIVE
Congenital structural brain malformations have been described in patients with pathogenic phosphatase and tensin homologue (PTEN) variants, but the frequency of cortical malformations in patients with PTEN variants and their impact on clinical phenotype are not well understood. Our goal was to systematically characterize brain malformations in patients with PTEN variants and assess the relevance of their brain malformations to clinical presentation.
METHODS
We systematically searched a local radiology database for patients with PTEN variants who had available brain magnetic resonance imaging (MRI). The MRI scans were reviewed systematically for cortical abnormalities. We reviewed electroencephalogram (EEG) data and evaluated the electronic medical record for evidence of epilepsy and developmental delay.
RESULTS
In total, we identified 22 patients with PTEN pathogenic variants for which brain MRIs were available (age range 0.4-17 years). Twelve among these 22 patients (54%) had polymicrogyria (PMG). Variants associated with PMG or atypical gyration encoded regions of the phosphatase or C2 domains of PTEN. Interestingly, epilepsy was present in only 2 of the 12 patients with PMG. We found a trend toward higher rates of global developmental delay (GDD), intellectual disability (ID), and motor delay in individuals with cortical abnormalities, although cohort size limited statistical significance.
INTERPRETATION
Malformations of cortical development, PMG in particular, represent an under-recognized phenotype associated with PTEN pathogenic variants and may have an association with cognitive and motor delays. Epilepsy was infrequent compared to the previously reported high risk of epilepsy in patients with PMG. ANN NEUROL 2020;88:1153-1164.
Topics: Adolescent; Brain; Child; Child, Preschool; Comorbidity; Databases, Genetic; Developmental Disabilities; Electroencephalography; Female; Humans; Infant; Intellectual Disability; Magnetic Resonance Imaging; Male; Massachusetts; Neuroimaging; PTEN Phosphohydrolase; Polymicrogyria
PubMed: 32959437
DOI: 10.1002/ana.25904 -
Applied Neuropsychology. Child 2017Megalencephaly-Capillary Malformation Polymicrogyria (M-CAP) is a rare genetic disorder characterized by a spectrum of anomalies including macrocephaly and neurovascular... (Review)
Review
Megalencephaly-Capillary Malformation Polymicrogyria (M-CAP) is a rare genetic disorder characterized by a spectrum of anomalies including macrocephaly and neurovascular malformations. Although developmental delays have been identified, research is devoid of neuropsychological data. This case report presents the neuropsychological profile of a 7-year-old, identified with M-CAP. Neuropsychological evaluation was completed subsequent to medical diagnosis. Reports from both parents and teachers included cognitive regression; specifically in the recall of learned material, reading, and information sequencing. Direct testing revealed a WISC-IV GAI at <1 percentile, a diverse range of scores across the battery, and a splinter skill strength of average to above on visual memory tests. Performance included below grade level reading and writing, reduced adaptive functioning, and reported executive dysfunction. Her strong visual memory skills were recommended as a medium to enhance learning. Neurocognitive deficits revealed diverse, multisystem and multifocal impairments. The neuropsychological evaluation also showed significant decline from the previous evaluation and prompted a neurologic consult and corrective surgical procedure.
Topics: Abnormalities, Multiple; Attention; Child; Female; Hemangioma, Cavernous, Central Nervous System; Humans; Megalencephaly; Memory; Neuropsychological Tests; Polymicrogyria; Reading; Skin Diseases, Vascular; Telangiectasis; Wechsler Scales
PubMed: 27216985
DOI: 10.1080/21622965.2016.1182432 -
Brain & Development Sep 2022Pathogenic variants in ATP1A3 cause various phenotypes of neurological disorders, including alternating hemiplegia of childhood 2, CAPOS syndrome (cerebellar ataxia,...
INTRODUCTION
Pathogenic variants in ATP1A3 cause various phenotypes of neurological disorders, including alternating hemiplegia of childhood 2, CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) and rapid-onset dystonia-parkinsonism (RDP). Early developmental and epileptic encephalopathy has also been reported. Polymicrogyria has recently been added to the phenotypic spectrum of ATP1A3-related disorders.
CASE REPORT
We report here a male patient with early developmental delay who at 12 months presented dystonia of the right arm which evolved into hemidystonia at the age of 2. A cerebral MRI showed bilateral perisylvian polymicrogyria with intact basal ganglia. Whole-exome and whole-genome sequencing analyses identified a de novo new ATP1A3 missense variant (p.Arg914Lys) predicted pathogenic. Hemidystonia was thought not to be due to polymicrogyria, but rather a consequence of this variant.
CONCLUSION
This case expands the phenotypic spectrum of ATP1A3-related disorders with a new variant associated with hemidystonia and polymicrogyria and thereby, suggests a clinical continuum between the different phenotypes of this condition.
Topics: Dystonia; Dystonic Disorders; Humans; Male; Mutation; Phenotype; Polymicrogyria; Sodium-Potassium-Exchanging ATPase
PubMed: 35623960
DOI: 10.1016/j.braindev.2022.05.001 -
Neurology May 2004Syndromes of bilateral symmetric polymicrogyria include an autosomal recessive form of bilateral frontoparietal polymicrogyria (BFPP), in which the malformation is most... (Review)
Review
BACKGROUND
Syndromes of bilateral symmetric polymicrogyria include an autosomal recessive form of bilateral frontoparietal polymicrogyria (BFPP), in which the malformation is most severe rostrally. The authors describe a new syndrome they have termed "bilateral generalized polymicrogyria" (BGP), in which the malformation occurs in a generalized distribution but is often most severe in the perisylvian regions.
METHODS
Patients with bilateral polymicrogyria were identified from multiple medical centers worldwide. The diagnosis of BGP was based on findings from conventional spin echo MRI and, in one case, postmortem neuropathologic findings. Genetic analysis was performed for those patients from consanguineous pedigrees and those with multiple affected siblings to rule out linkage to the BFPP locus on chromosome 16q.
RESULTS
Twelve patients were identified with BGP. Clinical features included cognitive and motor delay as well as seizures. Some specific features characteristic of other known bilateral polymicrogyria syndromes, such as pseudobulbar palsy and dysconjugate gaze, were not commonly seen in these patients. Radiologically, polymicrogyria appeared widespread but was often most severe in the perisylvian regions. Pathologic examination in one case revealed a diffusely thin and excessively folded cerebral cortex lacking normal six-layered architecture. Seven patients subjected to genetic analysis did not demonstrate linkage to the BFPP locus.
CONCLUSIONS
BGP is a distinct syndrome of cortical malformation. Several features allow BGP to be distinguished from other disorders on the growing list of bilateral symmetric polymicrogyria syndromes.
Topics: Abnormalities, Multiple; Cerebral Cortex; Cerebral Ventricles; Child; Child, Preschool; Chromosomes, Human, Pair 16; Consanguinity; Developmental Disabilities; Epilepsies, Partial; Fatal Outcome; Female; Genes, Recessive; Genetic Heterogeneity; Humans; Infant; Intellectual Disability; Magnetic Resonance Imaging; Male; Microsatellite Repeats; Nervous System Malformations; Neuromuscular Diseases; Phenotype; Quadriplegia; Syndrome
PubMed: 15159468
DOI: 10.1212/01.wnl.0000125187.52952.e9 -
Brain Communications 2024Bilateral perisylvian polymicrogyria is the most common form of regional polymicrogyria within malformations of cortical development, constituting 20% of all... (Review)
Review
Bilateral perisylvian polymicrogyria is the most common form of regional polymicrogyria within malformations of cortical development, constituting 20% of all malformations of cortical development. Bilateral perisylvian polymicrogyria is characterized by an excessive folding of the cerebral cortex and abnormal cortical layering. Notable clinical features include upper motoneuron dysfunction, dysarthria and asymmetric quadriparesis. Cognitive impairment and epilepsy are frequently observed. To identify genetic variants underlying bilateral perisylvian polymicrogyria in Finland, we examined 21 families using standard exome sequencing, complemented by optical genome mapping and/or deep exome sequencing. Pathogenic or likely pathogenic variants were identified in 5/21 (24%) of families, of which all were confirmed as These variants were identified in five genes, i.e. , , , and , with and being associated with bilateral perisylvian polymicrogyria for the first time. In conclusion, our results confirm the previously reported genetic heterogeneity of bilateral perisylvian polymicrogyria and underscore the necessity of more advanced methods to elucidate the genetic background of bilateral perisylvian polymicrogyria.
PubMed: 38712318
DOI: 10.1093/braincomms/fcae142