GPR56-Related Polymicrogyria: Clinicoradiologic Profile of 4 Patients.
Bilateral frontoparietal polymicrogyria is an autosomal recessive cortical malformation associated with abnormalities of neuronal migration, white matter changes, and mild brainstem and cerebellar abnormalities. Affected patients present with delayed milestones, intellectual disability, epilepsy, ataxia, and eye movement abnormalities. The clinicoradiologic profile resembles congenital muscular dystrophy. However, no muscle disease or characteristic eye abnormalities of congenial muscular dystrophy are detected in these children. GPR56 is the only confirmed gene associated with bilateral frontoparietal polymicrogyria. Antenatal diagnosis is possible if the index case is genetically confirmed. Four patients from different Indian families with a distinct clinicoradiologic profile resembling congenital muscular dystrophy with mutations in the GPR56 gene are described.
PD Hinduja Hospital & Medical Research Centre, Mahim, Mumbai, India neeludesai@hotmail.com.
Neelu A
NA
Desai
PD Hinduja Hospital & Medical Research Centre, Mahim, Mumbai, India.
Vrajesh
V
Udani
D001921:Brain / Q000473:pathology*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007194:India; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D054220:Malformations of Cortical Development / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D009154:Mutation; D043562:Receptors, G-Protein-Coupled / Q000235:genetics*
C118925:ADGRG1 protein, human; D043562:Receptors, G-Protein-Coupled
GPR56; bilateral frontoparietal polymicrogyria; cobblestone lissencephaly; congenital muscular dystrophy; epilepsy