Mega-corpus callosum, polymicrogyria, and psychomotor retardation syndrome.
We describe two children from a consanguineous family who manifested mega-corpus callosum, polymicrogyria, and psychomotor retardation. These patients also exhibited the brain anomalies of pontine hypoplasia and an abnormal cerebellar vermis. Our report confirms the genetic nature of megalencephaly-polymicrogyria-mega-corpus callosum syndrome, suggests a possible autosomal-recessive inheritance, and expands the spectrum of this rare entity.
Bindu
Parayil S
PS
Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India.
Taly
Arun B
AB
Sinha
Sanjib
S
Bharath
Rose D
RD
D061085:Agenesis of Corpus Callosum; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D054220:Malformations of Cortical Development / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D011596:Psychomotor Disorders / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D013577:Syndrome