title: Bilateral sensorineural deafness, partial agenesis of the corpus callosum, and arachnoid cysts in two sisters.
abstract: We describe two sisters (ages 10 and 3 years, respectively) with a normal development and a combination of congenital sensorineural hearing loss, partial agenesis of the corpus callosum, arachnoid cyst, and hydrocephalus. Neither 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. Cerebral magnetic resonance imaging in one girl and computed tomography in the other showed a partial agenesis of the corpus callosum and a cyst in the pineal region, causing an aqueduct stenosis by compression and consequent hydrocephalus. The parents have normal hearing, and brain magnetic resonance imaging showed no abnormalities. They are nonconsanguineous but from the same small village. This is the first report of a combination of congenital sensorineural hearing loss, partial agenesis of the corpus callosum, and an arachnoid cyst. The pattern of inheritance is probably autosomal recessive.
authors.affiliation: Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Y M
authors.initials: YM
authors.lastname: Hendriks
authors.forename: L A
authors.initials: LA
authors.lastname: Laan
authors.forename: G J
authors.initials: GJ
authors.lastname: Vielvoye
authors.forename: A
authors.initials: A
authors.lastname: van Haeringen
mesh_terms: D000328:Adult; D061085:Agenesis of Corpus Callosum; D016080:Arachnoid Cysts / Q000235:genetics / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003638:Deafness / Q000151:congenital / Q000235:genetics / Q000473:pathology*; D005192:Family Health; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics / Q000473:pathology; D008297:Male