Bowel perforation in a pediatric patient with congenital generalized lipodystrophy type 4

Abstract Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder that affects adipocyte development. Presentation varies based on type. A 12-year old female with CGL type 4, developed a sigmoid colon perforation in the setting of colonic wall hypertrophy after colonoscopy. She presented to the emergency room (ER) with several days of worsening abdominal pain and fevers. The initial evaluation was concerning for infectious versus inflammatory colitis. She was admitted for gastroenterology (GI) consultation for the complaint of abdominal pain. The patient had an established history of constipation management with laxatives. Full GI evaluation, including infectious panel as well as esophagogastroduodenoscopy (EGD) and colonoscopy, was negative. During the colonoscopy some difficulty with passage of the colonoscope past 25 cm was reported and therefore a gastroscope was used. She met criteria to start a clear liquid diet following the procedure. Two days after the colonoscopy, she had pneumoperitoneum on abdominal radiographs and was taken to the operating room for exploratory laparotomy. At the time of surgery, copious fibrinopurulent exudate was found throughout the abdominal cavity, as well as a thickened sigmoid colon/rectum and perforation with a contained abscess at the rectosigmoid junction. Sigmoid colectomy and end colostomy were performed. Pathologic examination demonstrated diffuse colonic wall thickening, a serosal defect that did not extended to the mucosa and several early diverticula. The pathology report stated that the presence of microscopic perforations could not be ruled out. The patient had an uneventful post-operative recovery. Congenital generalized lipodystrophy type 4 is a rare disease. We suspect an association between the muscular hypertrophy and the clinical presentation of bowel wall thickening and stricture. Given the rare nature of this disorder, clinicians that evaluate patients with CGL type 4 for constipation should have a suspicion for the possibility of colonic strictures. Rarely the condition can advance to perforation.