Bilateral sensorineural deafness, partial agenesis of the corpus callosum,and arachnoid cysts in two sisters

We describe two sisters (ages 10 and 3 years, respectively) with a normal d evelopment and a combination of congenital sensorineural hearing loss, part ial agenesis of the corpus callosum, arachnoid cyst, and hydrocephalus, Nei ther girl has distinctive physical anomalies. In the oldest girl, there was a hearing loss of 80 dB bilaterally, and the most severe loss on audiogram was seen at 2,000-4,000 Hz, In the youngest girl, there was a hearing loss of 100 dB bilaterally. Above 2,000 Hz no neural reactions were seen. Cereb ral magnetic resonance imaging in one girl and computed tomography in the o ther showed a partial agenesis of the corpus callosum and a cyst in the pin eal region, causing an aqueduct stenosis by compression and consequent hydr ocephalus, The parents have normal hearing, and brain magnetic resonance im aging showed no abnormalities. They are nonconsanguineous but from the same small village. This is the first report of a combination of congenital sen sorineural hearing loss, partial agenesis of the corpus callosum, and an ar achnoid cyst, The pattern of inheritance is probably autosomal recessive. ( C) 1999 Wiley-Liss, Inc.