Transmural ischemic bowel necrosis in a patient with Kabuki syndrome: a case report

Abstract

Kabuki syndrome (KS) is a rare genetic disorder in which mutations in the KMT2D or KDM6A genes result in a wide spectrum of clinical manifestations including development and growth delay; intellectual dysfunction; craniofacial dysmorphism; and various systemic structural and functional defects. We present the case of a 16-year-old male, diagnosed with KS in his infancy. He presented with acute diffuse abdominal pain, accompanied by distension, nausea and clinical data suggestive of intestinal obstruction. After radiological confirmation, focal intestinal necrosis was identified on exploratory surgery, so he underwent intestinal resection and ileostomy in shotgun. The final diagnosis was transmural intestinal ischemic necrosis with acute inflammatory process and serofibrinous peritonitis.