Inner ear anomalies in Waardenburg's syndrome associated with Hirschsprung's disease

Abstract

Congenital inner ear anomalies are reported in temporal bones of a 22-month-old boy with Waardenburg's syndrome and Hirschsprung's disease. Although no changes in the central auditory pathway were identified, peripheral lesions of the cochlear and vestibular membranous labyrinth were observed. Bilateral atrophy of the organ of Corti and stria, and a sparsity of spiral ganglion cells were observed in the cochlea. Degeneration of the vestibular end organs, including a loss of Scarpa's ganglion cells, was also seen. This is the first report of temporal bone histopathology associated with Waardenburg's syndrome and Hirschsprung's disease. The pathoembryology of these inner ear anomalies associated with aganglionosis of the colon supports the hypothesis that Waardenburg's syndrome and Hirschsprung's disease are hereditary defects of neural crest cells.