Association of Hirschsprung disease with Waardenburg syndrome and role of gene studies: A review of 2 cases

  • Niraj Kumar Dipak
  • Siddharth Parab
  • Amol Nage
  • Abnish Kumar

Abstract

Background: Waardenburg-Shah syndrome type 4 is an association of Waardenburg syndrome with Hirsch sprung disease. Three disease-causing genes have been identified so far: Endothelin receptor type B encoding the endothelia-B receptor, EDN3 encoding an endothelia receptor ligand and Sry-like HMG bOX10 (SOX10) encoding the SOX10 transcription factor. Case Report: This is a review of 2 cases with variable onset of presentation and extent of aganglionic segment. Intervention/Outcome: In case 1, primary pull-through, as definitive surgical correction was done as a single procedure, whereas in case 2, required ileostomy with a plan of definitive surgery later on. Message: Mutation studies are helpful in characterization of the syndrome and counseling to the family. Furthermore, prognosis depends on the length of the ganglionic segment.

Keywords: Autosomal recessive disorder, Endothelin receptor type B, Sensorineural deafness, Short-segment Hirschsprung disease, Sry-like HMG bOX10, Waardenburg syndrome
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How to Cite
Dipak, N., Parab, S., Nage, A., & Kumar, A. (2018). Association of Hirschsprung disease with Waardenburg syndrome and role of gene studies: A review of 2 cases. Indian Journal of Child Health, 5(3), 216-219. Retrieved from https://atharvapub.net/IJCH/article/view/782
Section
Case Reports

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