World Journal of Colorectal Surgery
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1 World Journal of Colorectal Surgery Volume 3, Issue Article 14 ISSUE 1 Diffuse Intestinal Lipomatosis Presenting as Adult Intussusception Christopher W. Snyder Jamie A. Cannon University of Alabama at Birmingham, chris.w.snyder@gmail.com University of Alabama at Birmingham, jacannon@uab.edu Copyright c 2013 The Berkeley Electronic Press. All rights reserved.
2 Diffuse Intestinal Lipomatosis Presenting as Adult Intussusception Christopher W. Snyder and Jamie A. Cannon Abstract Background: A 25-year old female presented to the Emergency Department with intermittent abdominal pain. Computed tomography imaging demonstrated multiple fat-density tumors in the small intestine and colon associated with two long-segment intussusceptions. Methods: Colonoscopy showed a partially obstructing multilobulated mass in the descending colon; biopsy was non-diagnostic. At exploratory laparotomy, she was found to have hundreds of variable-sized fatty submucosal tumors distributed diffusely throughout the small intestine and colon. Proximal ileal resection and near-total abdominal colectomy with ileorectal anastomosis was performed to remove the heavily diseased and intussuscepted bowel segments. Results: Pathology confirmed the diagnosis of diffuse intestinal lipomatosis, identifying extensive submucosal lipomas in the small and large bowel. The largest lipomas, which had served as intussusception lead points, measured 4 cm in the colon and 6 cm in the ileum. Her post-operative course was uncomplicated and she remains symptom-free at over one year after surgery. Conclusions: Symptomatic diffuse intestinal lipomatosis is a very rare condition with variable presenting symptoms. It is readily diagnosed by cross-sectional imaging and treated by surgical resection of the intestinal segments causing symptoms. The etiology may involve fetal somatic genetic mutations. Long-term risk of malignancy is believed to be low, but optimal follow-up remains undefined. KEYWORDS: diffuse intestinal lipomatosis, lipoma, gastrointestinal tract, intussusception
3 Snyder and Cannon: Diffuse Intestinal Lipomatosis Presenting as Adult Intussusceptio 1 Introduction A 25-year old African-American female presented to the Emergency Department (ED) complaining of abdominal pain. The pain was sharp, intermittent, and localized to the left upper quadrant. It was associated with small-volume nonbilious emesis that occurred after the pain started. She reported having episodes of similar symptoms approximately once per month for the past two years. She had presented to ED on several previous occasions, but since her symptoms always resolved spontaneously they were attributed to gastroesophageal reflux. She had no other systemic, gastrointestinal, urologic, or gynecologic symptoms. Her past medical history was significant only for two normal pregnancies with uncomplicated vaginal deliveries. Family history was negative for any gastrointestinal problems or benign or malignant tumors. Her vital signs and physical examination were normal. Laboratory studies, including complete blood count, electrolytes, liver function tests, urinalysis, and urine pregnancy test were normal. A computed tomography (CT) scan of the abdomen and pelvis with oral and intravenous contrast was obtained in the ED. The CT scan was grossly abnormal, demonstrating fat-density masses throughout the walls of colon and small bowel (Figure 1), with a long-segment colonic intussusception in the left upper quadrant (Figure 2) and a second intussusception of the distal ileum. Oral contrast was able to pass through the areas of intussusception. There was mesenteric congestion and adenopathy but no evidence of bowel ischemia or metastatic disease. Methods The patient was admitted to the Gastrointestinal Surgery service. At the time of admission, her symptoms had abated spontaneously and she was passing flatus. An exploratory laparotomy with bowel resection was recommended, but the patient initially refused. She did consent to colonoscopy, which was performed by the attending surgeon; this demonstrated a large, partially obstructing, multilobulated polyp in the descending colon. The colon proximal to the polyp could not be evaluated due to the presence of solid stool. Multiple biopsies of the polyp were taken, but revealed only colonic mucosa with non-specific reactive changes. After further discussion, the patient gave her informed consent and was taken to the operating room. Upon entering the abdomen through a midline incision, the small bowel and colon were found to be studded with hundreds of variable-sized fatty tumors from the proximal jejunum to the distal sigmoid. The epiploic appendages were grossly hypertrophied throughout the colon. There was a massive long-segment intussusception of the proximal ileum with grossly distended bowel, with multiple very large fatty tumors serving as a lead point. There was a second intussusception starting at the terminal ileum with intussusception into the right colon, and this segment was subsequently Produced by The Berkeley Electronic Press, 2013
4 2 World Journal of Colorectal Surgery Vol. 3, Iss. 1 [2013], Art. 14 intussuscepted into the distal transverse colon. There was no evidence of necrosis or perforation. The distal ileum between the two intussuscepted segments contained a few small fatty tumors, but appeared healthy. The stomach, duodenum, and distal sigmoid colon appeared normal and healthy. Results A near-total abdominal colectomy was performed with a stapled side-to-side anastomosis of the distal ileum to the sigmoid colon. The heavily diseased segment of the proximal ileum was then resected separately, and small bowel continuity was reestablished with a second stapled side-to-side anastomosis. Multiple fatty tumors were left in place throughout the remaining small bowel, but all appeared to be small with no other segments of intussusception. The patient s post-operative course was uncomplicated. She tolerated advancement of her diet, resumed bowel function, and was discharged home on the fifth postoperative day. She has had no recurrence of her gastrointestinal symptoms at over a year after surgery. Pathologic examination of the resected specimens identified extensive submucosal lipomas in the small and large bowel, confirming the diagnosis of diffuse intestinal lipomatosis (Figure 3). The largest lipomas, which had served as lead points for the intussusceptions, measured 4 cm in the colon and 6 cm in the ileum (Figure 4). Discussion As of this writing, thirteen other cases of diffuse intestinal lipomatosis have been reported. Seven cases predominantly involved the small bowel and its mesentery (1-4), four predominantly involved the colon (5-7), and two were associated with extraintestinal lipomatosis (8, 9). Age of presentation was highly variable, ranging from the neonatal period to the seventh decade of life. Although most patients presented subacutely with intermittent obstructive symptoms, at least one patient presented with colonic perforation and peritonitis. Treatment always involved resection of the severely diseased bowel. One case has been reported in association with Proteus syndrome, a rare disorder characterized by patchy hyperplasia of multiple tissues and organs but low risk of malignancy (10). The cause of this syndrome has recently been identified as a somatic (i.e. nongermline) genetic mutation in AKT1 that occurs during fetal development (11). It is possible that isolated intestinal lipomatosis arises from a similar mutation in mesenchymal cell lines of the midgut during fetal development. In conclusion, symptomatic diffuse intestinal lipomatosis is a very rare condition with variable presenting symptoms, but can be readily diagnosed by crosssectional imaging. Treatment for lesions causing symptomatic obstruction or intussusception is surgical resection. The etiology remains unknown, but may involve fetal somatic genetic mutations. Optimal long-term follow-up, aside from
5 Snyder and Cannon: Diffuse Intestinal Lipomatosis Presenting as Adult Intussusceptio 3 instructing the patient to seek immediate medical care for recurrence of symptoms, remains undefined. References 1. Cassinelli GB. [Diffuse entero-mesenteric lipomatosis]. Minerva Chir 1977;32(12): Komagata T, Takebayashi S, Hirasawa K, Fukawa T, Arai M. Extensive lipomatosis of the small bowel and mesentery: CT and MRI findings. Radiat Med 2007;25(9): Ranchod M, French TJ, Novis BH, Bank S, Marks IN. Diffuse nodular lipomatosis and diverticulosis of the small intestine. Gastroenterology 1972;63(4): Suren EG, Bodewig HO, Leithe J. [Diffuse, nodular-polypous lipomatosis of the small intestine]. Chirurg 1976;47(5): Greiner L. [Diffuse colonic lipomatosis with giant diverticulosis]. Med Welt 1980;31(39): Iannello S, Spina M, Magnano M, Prestipino M, Ricciardi N, Politi G, et al. [Diffuse symptomatic polypoid lipomatosis of the colon with hyperplasia of epiploic appendices: a case report]. Ann Ital Med Int 1995;10(1): Sandhu PS, Bansiwal RK, Attri AK, Mittal R. Diffuse colonic lipomatosis, presenting as perforation peritonitis and mimicking carcinoma colon. Indian J Surg;73(2): Rossi A, Rossi G. [Diffuse intestinal lipomatosis associated with pancreatic and adrenal lipomas. Diagnosis with computerized tomography: the first case?]. Radiol Med 1998;96(6): Usmiani J, Ulatowski L, Winter J. [Diffuse polypoid lipomatosis coli with hypertrophy of the appendices epiploicae in congenital lipomatosis (author's transl)]. Dtsch Med Wochenschr 1980;105(49): Bates AW, Smith VV. Symptomatic diffuse colonic lipomatosis in Proteus syndrome. Histopathology 2001;39(1): Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, Peters K, et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med;365(7): Figure captions Figure 1: Multiple fat-density tumors in small bowel (left arrow) and colon (right arrow). Figure 2: Long-segment intussusception of terminal ileum (open arrow) into distal transverse colon (solid arrows). Produced by The Berkeley Electronic Press, 2013
6 4 World Journal of Colorectal Surgery Vol. 3, Iss. 1 [2013], Art. 14 Figure 3: Near-total abdominal colectomy specimen, demonstrating patches of normal mucosa (open arrow), multiple submucosal fatty tumors (solid arrows), and hypertrophied epiploic appendages (solid arrowheads). Figure 4: Proximal ileum specimen, with examiner s hand holding large multilobulated submucosal fatty tumor.
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