CASE REPORT OPEN ACCESS Journal of the College of Physicians and Surgeons Pakistan 2022, Vol. 32(09): 1222-1224 1222 Coexistence of Colon Perforation and Congenital Lipodystrophy Nihan Acar 1 , Turan Acar 1 , Beste Suataman 1 , Nese Ekinci 2 and Fatma Tatar 1 1 Department of General Surgery, Izmir Katip Celebi University Ataturk Training and Research Hospital, Izmir, Turkey 2 Department of Pathology, Izmir Katip Celebi University Ataturk Training and Research Hospital, Izmir, Turkey ABSTRACT Lipodystrophy (LD) is an acquired or congenital rare condition consisting of hyperlipidaemia, glucose intolerance/ insulin resis- tance, and almost complete absence and storage of adipose tissue. Colon perforations can be observed in type 4 congenital LD. Here, we aimed to present a case of sigmoid colon perforation which developed in a young woman with the diagnosis of LD. Extensive purulent peritonitis, significant wall thickening, and oedema in the sigmoid colon were detected during surgical explora- tion. Anterior resection with end colostomy procedure was then performed. Although bowel perforation has been theoretically reported to occur in LD, the presented case is the first adult patient in the liter- ature. These individuals tend to develop colon perforation as a result of histological changes in their gastrointestinal tract. This situation should always be taken into consideration in order to avoid delay in diagnosis, especially in patients who present with abdominal pain and have a history of LD. Key Words: Intestinal perforation, Congenital lipodystrophy, Peritonitis, Sigmoid colon. How to cite this article: Acar N, Acar T, Suataman B, Ekinci N, Tatar F. Coexistence of Colon Perforation and Congenital Lipodys- trophy. J Coll Physicians Surg Pak 2022; 32(09):1222-1224. INTRODUCTION Lipodystrophy (LD) is an acquired or congenital rare condition consisting of hyperlipidaemia, glucose intolerance/insulin resis- tance,andanalmostcompleteabsenceordisorderofthestorage of adipose tissue. The congenital form is classified into four subtypes, each manifesting different clinical features, according to the four different biallelic mutations. 1 Among these four types, type 4 is characterised by the generalised lipodystrophy, congenital myopathy with high- serum creatine kinase levels, gastrointestinal dysmotility, skeletal abnormalities, and cardiac arrhythmias. 2 Here, we aimed to present a case and management of sigmoid colon perforation which developed in a young woman with the diagnosis of congenital LD, which is the second case in all the age groups and first in an adult patient in the literature. CASEREPORT A 20-year female with type 4 congenital LD was admitted to the emergency department after two days of severe abdominal pain and nausea. Diagnosis of type 4 congenital LD had been made after genetic testing at another medical centre. Correspondence to: Dr. Nihan Acar, Department of General Surgery, Izmir Katip Celebi University Ataturk Training and Research Hospital, Izmir, Turkey E-mail: cosgunnihan@hotmail.com ..................................................... Received: August 23, 2020; Revised: November 27, 2020; Accepted: December 22, 2020 DOI: https://doi.org/10.29271/jcpsp.2022.09.1222 She had a history of insulin-dependent diabetes, hypertriglyc- eridemia, and ventricular tachycardia which was controlled with an implantable cardioverter defibrillator (ICD), scoliosis, andchronicconstipation.Shehadbeenusingpropranolol,vera- pamil, flecainide, fenofibrate, gliclazide, and both short and long-acting insulin. The patient was in good general condition, and initial vital signs revealed a heart rate of 110 beats/minute, normal blood pres- sure(120/70mmHg),andsubfebriletemperature(37.8°C).She had a pseudo-acromegaloid appearance, generalised loss of subcutaneous fat, and scoliosis. Physical examination displayedabdominaldistension,diffusetenderness,reboundin theleftlowerquadrant,andanormaldigitalrectalexamination. Laboratory tests were unremarkable except for slightly elevated C-reactive protein (6.34 mg/dL). The abdominal X- rays and ultrasound did not give any clues for a preliminary diag- nosis. Therefore, an abdominal computed tomography was performed which showed extra-luminal gas bubbles, intra-ab- dominal free fluid, diffuse wall thickening in the rectosigmoid and sigmoid colon, and pericolic stranding around the rectosig- moid colon (Figure 1). An emergency operation was planned duetothegastrointestinalperforation.Extensivepurulentperi- tonitis, significant wall thickening, and oedema in the sigmoid colon were detected during the exploration. It was considered as perforated diverticulitis. Anterior resection with end colos- tomy was then performed. The patient was discharged unevent- fully on the fifth postoperative day. Histopathological examina- tion of the specimen revealed fibrosis, significant muscular hypertrophy, and loss of circular and longitudinal layer organisa-