Chronic constipation recognized as a sign of a SOX10 mutation in a patient with Waardenburg syndrome.

[hirschsprung disease]

Waardenburg syndrome is characterized by hearing loss , pigmentation abnormalities , dysmorphologic features , and neurological phenotypes . Waardenburg syndrome consists of four distinct subtypes , and SOX 10 mutations have been identified in type II and type IV . Type IV differs from type II owing to the presence of Hirschsprung disease . We identified a de novo nonsense mutation in SOX 10 (p .G 39 X ) in a female pediatric patient with Waardenburg syndrome with heterochromia iridis , profound bilateral sensorineural hearing loss , inner ear malformations , and overall hypopigmentation of the hair without dystopia canthorum . This patient has experienced chronic constipation since she was a neonate , but anorectal manometry showed a normal anorectal reflex . Chronic constipation in this patient was likely to be a consequence of a mild intestinal disorder owing to the SOX 10 mutation , and this patient was considered to have a clinical phenotype intermediate between type II and type IV of the syndrome . Chronic constipation may be recognized as indicative of a SOX 10 mutation in patients with Waardenburg syndrome .