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Shah Waardenberg syndrome
P R Gupta1, S K Chowdhary, K Joshi
1Department of Pediatric Surgery, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Indian Journal of Pediatrics
|June 14, 2002
Summary
Shah Waardenberg syndrome, a rare condition, links partial albinism and white forelock to Hirschsprung disease in neonates. This association can cause intermittent or partial small bowel obstruction, highlighting a critical diagnostic clue.
Area of Science:
- Pediatric Surgery
- Medical Genetics
- Gastroenterology
Background:
- Hirschsprung disease, a congenital disorder characterized by aganglionosis of the distal bowel, typically presents with constipation in neonates.
- Waardenburg syndrome is a group of genetic disorders characterized by pigmentary anomalies, including partial albinism and white forelock, and hearing loss.
Observation:
- This report details a rare case of a neonate presenting with intermittent partial small bowel obstruction.
- The neonate exhibited features of partial albinism and a white forelock, suggesting a potential syndromic association.
Findings:
- The neonate's bowel symptoms were attributed to total aganglionosis, consistent with Hirschsprung disease.
- The co-occurrence of Hirschsprung disease and Waardenburg syndrome features in this neonate represents the Shah Waardenberg syndrome.
Implications:
- The presence of partial albinism and white forelock should prompt consideration of Hirschsprung disease in neonates with bowel obstruction.
- Recognizing Shah Waardenberg syndrome is crucial for timely diagnosis and appropriate management of gastrointestinal and pigmentary issues in affected infants.