Concurrent agenesis of the corpus callosum and ureteroceles in siblings

Agenesis of the corpus callosum is an uncommon anomaly that exists in complete and partial forms. It has been associated with other cerebral malformations as well as facial, genitourinary, musculoskeletal, cardiac, and respiratory anomalies. Agenesis of the corpus callosum is generally sporadic but it has been reproted in several families. Ureteroceles frequently occur in association with duplications of the ureters. The hereditary occurrence of ureteroceles has been reported in five families. In this report, we describe two brothers with the simultaneous occurrence of agenesis of the corpus callosum and orthotopic ureteroceles. Two brothers were seen at The Hospital of the Albert Einstein College of Medicine for evaluation of urologic abnormalities. Both were previously known to have agenesis of the corpus callosum with hydrocephalus. The parents and an older sister are healthy. There is no known family history of agenesis of the corpus callosum, genitourinary (GU) abnormalities, or consanguinity.