Waardenburg syndrome with extended aganglionosis: report of 3 new cases.

Abstract

PURPOSE:

The Waardenburg-Shah syndrome is an autosomal recessive disease with varied penetration where Hirschsprung's disease and the Waardenburg syndrome are seen together. Although the length of the involved intestinal segment varies in this syndrome, most patients had total colonic aganglionosis with or without small bowel involvement. We present in this study 2 siblings and one first-degree relative for a total of 3 male patients with Waardenburg syndrome and total colonic aganglionosis with or without small bowel involvement, together with their clinical characteristics and treatment methods.

PATIENTS:

The patients who presented with intestinal obstruction findings within the first 48 hours after birth were operated on with 2 patients under elective conditions and 1 as an emergency. The ganglionic segment lengths were 6, 8, and 20 cm, respectively. Aganglionic enterostomy was performed, and the Ziegler operation was used for these patients. The enterostomies started to function on the third postoperative week, and they started to gain weight. However, all died because of sepsis on the 5th to 12th month.

CONCLUSION:

Waardenburg-Shah syndrome patients have a higher incidence of total colonic aganglionosis with or without small bowel involvement. The Ziegler operation may be used in patients with inadequate ganglionic bowel length to gain some time for the child to grow and to decrease total parenteral nutrition complications.

• Authors: Irfan Karaca, Erdal Turk, Ragip Ortac, Aliye Kandirici
• Journal: Journal of pediatric surgery (J Pediatr Surg) Vol. 44 Issue 6 Pg. E9-13 (Jun 2009) ISSN: 1531-5037 [Electronic] United States
• PMID: 19524716 (Publication Type: Case Reports, Journal Article)

Topics

• Fatal Outcome
• Hirschsprung Disease (complications, diagnosis, surgery)
• Humans
• Infant, Newborn
• Male
• Waardenburg Syndrome (complications, diagnosis)