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

Publication date: Available online 25 June 2019Source: Journal of Pediatric Surgery Case ReportsAuthor(s): Amanda Munoz, Andrei Radulescu, Joanne Baerg, Yomara Mendez, Faraz A. KhanAbstractCongenital 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...
Source: Journal of Pediatric Surgery Case Reports - Category: Surgery Source Type: research