Related Experiment Videos
Hirschsprung's disease: a more generalised neuropathy?
1Division of Paediatric Surgery, Division of ENT, Department of Surgery, University of Hong Kong Medical Centre, Queen Mary Hospital, Hong Kong, SAR, China.
Journal of Pediatric Surgery
|February 15, 2001
Summary
Hirschsprung's disease (HSCR) patients show signs of generalized neuropathy, including hearing loss and peripheral nerve dysfunction. This suggests HSCR affects more than just the bowel, impacting neural crest-derived tissues elsewhere in the body.
Area of Science:
- Neuroscience
- Genetics
- Pediatrics
Background:
- Hirschsprung's disease (HSCR) involves abnormal neural crest cell migration, affecting gut innervation.
- Neural crest cells also form nerves in the inner ear and peripheral nervous system.
Purpose of the Study:
- To investigate potential neural involvement outside the gastrointestinal tract in HSCR patients.
- To assess auditory and peripheral nerve function in children with HSCR.
Main Methods:
- Audiometry and oto-acoustic emission tests were conducted on 53 HSCR patients and 28 controls.
- Neurologic evaluations, including quantitative sensory function tests, were performed on 42 HSCR patients and 30 controls.
Main Results:
- 8% of HSCR patients exhibited moderate to severe sensorineural hearing loss.
- Abnormal oto-acoustic emissions were significantly more prevalent in HSCR patients (75%) versus controls (17%).
- HSCR patients showed impaired peripheral nerve function and higher vibration sensation thresholds.
Conclusions:
- Hirschsprung's disease is associated with a broader neuropathy extending beyond the affected bowel.
- Findings suggest a systemic impact of HSCR on neural crest-derived tissues.