Shah-Waardenburg syndrome

• Published in: Formosan journal of surgery : the official publication of the Surgical Association ... [et al.] Vol. 50; no. 5; pp. 163 - 168
• Main Authors: Gupta, Rahul, Barolia, Dinesh Kumar, Tanger, Ramesh, Agrawal, Lila Dhar, Gupta, Arun Kumar, Goyal, Ram Babu
• Format: Journal Article
• Language: English
• Published: Wolters Kluwer Health/LWW 01-09-2017
• Subjects: Blue eyes; broad high nasal root; Hirschsprung's disease; Shah-Waardenburg syndrome; total colonic aganglionosis; white forelock
• ISSN: 1682-606X
• DOI: 10.4103/fjs.fjs_30_17

Introduction: Shah-Waardenburg syndrome (SWS) is WS associated with Hirschsprung's disease. It is very rare with <80 cases reported in the literature. Aim: The aim of this study was to describe our experience with SWS. Methods: The records of patients admitted to our tertiary care pediatric surgical institute between 2011 and 2015 were retrospectively reviewed. All patients with histopathological diagnosis of Hirschsprung's disease were studied. SWS was identified as per the diagnostic criteria proposed by the Waardenburg consortium. Results: There were 202 patients diagnosed with Hirschsprung's disease during 5 years. We identified three male patients fulfilling the diagnostic criteria for WS (white forelock with the involvement of eyebrows and eyelashes, pigmentary disturbances of the iris, and broad high nasal root). All presented in the neonatal period with clinical and radiological features of small bowel obstruction. Family history (sibling) of SWS was seen in one of the neonates. Exploration revealed distended jejunal and ileal loops in all of them; colon contracted and unused (microcolon). Multiple seromuscular biopsies were performed from colon in all 3 neonates. Initial ileostomy was performed in case 2 and case 3. In case 1, the right transverse colostomy was done primarily as total colonic aganglionosis (TCA) was not expected (absence of transition zone in the early neonatal period) and also frozen section facilities were not available. It was followed by ileostomy (second surgery) about 15 cm proximal to the ileocecal junction as colostomy was not functioning adequately. The histopathology of gut biopsies revealed aganglionosis in the entire colon, confirming the diagnosis of TCA in all the cases. Out of three patients in our study, two neonates died in the postoperative period, while third case succumbed due to severe episodes of ileostomy diarrhea. Conclusion: A patient of WS presenting with neonatal intestinal obstruction or constipation since birth should be evaluated on the lines of SWS . Patients with SWS have a higher incidence of TCA or long-segment Hirschsprung's disease. In SWS when transition zone is not clear, an ileostomy would be preferable in view of nonavailability of frozen section.