Hereditary Partial Agenesis of Corpus Callosum

Abstract

While sporadically appearing agenesis of the corpus callosum is a relatively common entity, a genetic form of this condition has, to our knowledge, not been known to occur in man. We, therefore, wish to describe a family in whom this anomaly was transmitted in a sex-linked, recessive manner, affecting five male infants. In each instance, the disease manifested itself by seizures commencing within a few hours of birth and by severe developmental retardation. At the time of writing, three of the patients have succumbed. Neuropathological and neurochemical findings on one are herewith presented. <h3>Report of Cases</h3> One patient, III-13, was examined personally; data regarding the four others were obtained from medical records and family interviews. Case 1 (Index Case, III-13).—This was a white male, born March 9, 1961. Pregnancy and delivery were completely normal. Birth weight was 8 lb 5 oz (3.7 kg). At 60 hours of age, the infant