Hirschsprung's disease: a more generalised neuropathy?

Aberrant neural crest migration is implicated in the pathogenesis of hindgut aganglionosis in Hirschsprung's disease (HSCR). Neural crest progenitors also give rise to a variety of cell types outside the gut, including nerves of the inner ear and peripheral nervous system. This study aims to determine whether such nerves are also affected in HSCR.

Pure tone audiometry and oto-acoustic emission tests were performed on 53 patients with Hirschsprung's disease and 28 age-matched controls. Forty-two children with Hirschsprung's disease and 30 age-matched controls also underwent neurologic evaluation, including quantitative peripheral tests of sensory function.

Moderate to severe sensorineural hearing loss (1 profound [Waardenburg syndrome] and 3 high frequency) was detected in 4 children (8%) from the Hirschsprung's group. Abnormal (absent or reduced) oto-acoustic emission was detected in 77 of 102 ears (41 of 51 patients) in the HSCR group and 8 out of 48 ears (6 of 24 children) in the control group (75% v 17%; P<.0001). Two HSCR children had marked abnormalities on tests of peripheral nerve function. Significantly higher thresholds for vibration sensation were detected in HSCR versus controls (P<.05).

Hirschsprung's disease may have a more generalised neuropathy than just that involving the affected bowel.