A RARE PRESENTATION OF ADULT HIRSCHSPRUNG DISEASE

Abstract

Objective: Presentation of a clinical case of a quite uncommon pathology, the Waardenburg’s syndrome type IV, in a patient treated at Surgery 2 service of the Hospital Domingo Luciani. IVSS, Caracas. Methods: A 32 year old male patient, consulted for presenting pain and abdominal distention. Physical examination showed
malnutrition, failure to thrive, hearing loss and dystopia cantorum. Clinical diagnosis: Syndrome Waardenburg type IV. Results: It was performed a laparotomy, showing a great pancolonic dilatation. Rectal biopsies compatible with Hirschsprung disease. A Soave procedure was done with a loop ileostomy. Currently waiting for ileostomy closure. Conclusion: Waardenburg syndrome is a rare autosomal dominant disease with heterogeneous clinical and genetic presentation of variable penetration. Type IV is associated with Hisrchsprung disease.