Waardenburg Syndrome and hirschsprung Disease in a child: A case report

Introduction: Waardenburg Syndrome (WS) type IV or Waardenburg-Shah Syndrome (WSS) is a genetic disorder characterized by sensorineural hearing loss, pigmentary defects of the hair and skin, heterochromia of the eyes, and Hirschsprung Disease (HD). There are three other forms of WS, none of which include HD. Case presentation: A 7-year-old female born to non-consanguineous parents presented to our clinic with a history of chronic constipation. She had a white forelock on the frontal aspect of the head and multiple depigmented macules on the chest and lower extremities. She also had sensorineural hearing loss. On the physical exam, her abdomen was distended but soft and nontender. The digital rectal exam was unremarkable. Plain film of the abdomen showed dilated bowel loops. She underwent a contrast enema that showed a narrow rectum and a dilated sigmoid colon. She subsequently underwent a rectal biopsy, which confirmed the diagnosis of HD. The combination of all the features confirmed the diagnosis of WSS. She underwent a laparotomy-assisted trans -anal pull-through, from which she recovered uneventfully. Conclusion: The possibility of WSS must be considered when a patient with HD presents depigmented lesions in the body and hearing loss.