Bilateral generalized polymicrogyria (BGP)
- 25 May 2004
- journal article
- case report
- Published by Ovid Technologies (Wolters Kluwer Health) in Neurology
- Vol. 62 (10), 1722-1728
- https://doi.org/10.1212/01.wnl.0000125187.52952.e9
Abstract
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.This publication has 17 references indexed in Scilit:
- Bilateral frontoparietal polymicrogyria: Clinical and radiological features in 10 families with linkage to chromosome 16Annals of Neurology, 2003
- Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X‐linked traitAmerican Journal of Medical Genetics Part A, 2002
- An Autosomal Recessive Form of Bilateral Frontoparietal Polymicrogyria Maps to Chromosome 16q12.2-21American Journal of Human Genetics, 2002
- A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28American Journal of Human Genetics, 2002
- MECP2 Mutation in a Boy with Severe Neonatal Encephalopathy: Clinical, Neuropathological and Molecular FindingsNeuropediatrics, 2002
- POLYMICROGYRIA IN CHROMOSOME 22q11 DELETION SYNDROMEEuropean Journal of Paediatric Neurology, 2002
- Bilateral parasagittal parietooccipital polymicrogyria and epilepsyAnnals of Neurology, 1997
- Neuroimaging of Focal Malformations of Cortical DevelopmentJournal of Clinical Neurophysiology, 1996
- Congenital bilateral perisylvian syndrome: study of 31 patientsThe Lancet, 1993
- Homozygosity Mapping: A Way to Map Human Recessive Traits with the DNA of Inbred ChildrenScience, 1987