AGYRIA-PACHYGYRIA AND AGENESIS OF THE CORPUS-CALLOSUM - AUTOSOMAL RECESSIVE INHERITANCE WITH NEONATAL DEATH

We report three neonates, one boy and two girls, born to an inbred Ara b family who had cortical dysplasia, probably agyria-pachygyria, and a genesis of the corpus callosum. All had asphyxia, intractable seizures , and increased muscle tone at birth and died in the neonatal period. Congenital microcephaly or dysmorphic features were absent. Cytogeneti c abnormality, metabolic disorder, and intrauterine infection were exc luded. These cases suggest a new cerebral dysgenesis syndrome with aut osomal recessive inheritance.