GENITOURINARY MALFORMATIONS ASSOCIATED WITH AGENESIS OF THE CORPUS-CALLOSUM

Agenesis of the corpus callosum is an infrequent congenital anomaly th at occurs in partial or complete forms, and is frequently associated w ith other craniofacial and skeletal abnormalities. An increased associ ation with genitourinary abnormalities has not been previously defined . We reviewed the records of 22 boys and 11 girls with agenesis of the corpus callosum. Of the patients 18 had complete radiological or necr oscopic evaluation and 15 had physical examinations as the sole means of evaluation. Renal anomalies were the most frequent genitourinary ab normalities identified in these children, although ureteral, genital a nd bladder abnormalities were also encountered. There was an exception ally high incidence of undescended testes (23%), approximately 20-fold greater than the frequency in the normal population, possibly resulti ng from hypothalamic insufficiency associated with midline cranial def ects. We suggest, therefore, that all patients with agenesis of the co rpus callosum should be thoroughly evaluated with bladder and renal ul trasound studies to rule out any genitourinary abnormalities. Male pat ients with agenesis of the corpus callosum and undescended testes shou ld undergo hypothalamic/pituitary axis testing.