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Ondine's curse with Hirschsprung's disease
H Fodstad1, B Ljunggren, R Shawis
1Division of Neurosurgery, Tawam Hospital, Al Ain, UAE.
British Journal of Neurosurgery
|January 1, 1990
Summary
Congenital central hypoventilation syndrome (CCHS) and Hirschsprung's disease (HSCR) can be managed with diaphragm pacing. This intervention offers a chance for independence from mechanical ventilation and improved quality of life.
Area of Science:
- Pediatric Surgery
- Pediatric Neurology
- Respiratory Medicine
Background:
- Hirschsprung's disease (HSCR) is a congenital condition affecting the large intestine.
- Congenital central hypoventilation syndrome (CCHS), also known as Ondine's curse, involves impaired automatic respiratory control.
- The co-occurrence of HSCR and CCHS presents significant management challenges and a poor prognosis.
Observation:
- A rare association between HSCR and CCHS was observed in three pediatric patients.
- One male infant with total intestinal aganglionosis and CCHS did not survive beyond one month despite intensive support.
- Two female patients with HSCR and CCHS, managed with diaphragm pacing, demonstrated positive outcomes.
Findings:
- Diaphragmatic pacing via electrophrenic stimulation was implemented in two female patients at ages 2 and 6.
- Both patients achieved independence from nocturnal mechanical ventilation two and three years post-implantation.
- Effective management of aganglionosis in HSCR is crucial for successful diaphragm pacing outcomes.
Implications:
- Diaphragm pacing offers a viable therapeutic option for CCHS patients with co-existing HSCR.
- This intervention can potentially lead to prolonged survival and improved quality of life by eliminating the need for mechanical ventilation.
- Further research into the long-term efficacy and patient selection for diaphragm pacing in this combined condition is warranted.