A-20-year old male, with no significant medical history, presented with clinical features mimicking a perforated acute appendicitis. Because of features of peritonitis, a laparotomy was performed which showed a segment of small bowel with multiple large diverticula and mesenteric cysts. A segmental small bowel resection was performed. The patient made an uneventful recovery from surgery. Histology revealed features of a small bowel hamartoma.
The rarity of this lesion made the histological diagnosis a debatable issue. Histologically, the unusual appearance and the presence of the mixed vascular, lymphatic, smooth muscular, and adipose tissue components in the identified lesion meets the principles implied in the concept of hamartoma. Hence, we present a rare case report of small intestine (ileum) hamartoma.
A 20-year-old male was admitted via the Emergency Department on the Acute General Surgical Intake with a 24-hour history of right iliac fossa pain, in association with vomiting. His only medical history was of acne vulgaris for which he received Lymecycline 408 mg OD. He had experienced similar abdominal pain for a seven-day period, one month earlier. At that time, laboratory investigations and plain radiology were unremarkable. The patient was offered laparoscopy and appendicectomy, declined intervention, and was self-discharged against medical advice as he felt improvement. Examination findings on the readmission comprised a fever (temperature 39.6°C), pulse rate of 93 beats per minute, a respiratory rate of 19/minute, oxygen saturation of 96% on air, and normal Glasgow Coma Score. Palpation of the abdomen revealed diffuse tenderness throughout, with generalised guarding with no abdominal distension, and bowel sounds were absent.
Laboratory investigations showed haemoglobin of 16.7 g/dL, white cell count of 13.6, normal renal function, and normal C-reactive protein. A plain abdominal radiograph was normal. In view of the degree of tenderness, a contrast-enhanced CT scan of the abdomen and pelvis was obtained. This revealed what looks like a 50 cm multiseptated collection, occupying much of the abdominal and pelvic cavities. The collection contained pockets of air. There was a small quantity of free fluid around the liver and in both paracolic gutters. The appendix was not visualised.
Intravenous fluids, broad spectrum antibacterials, and proton pump inhibitors were administered. The patient was catheterised and taken for emergency exploratory laparotomy.
At laparotomy, a 20 cm abnormal segment of small intestine (ileum) was identified; this gave a false appearance of 50 cm collection on the CT scan images (Figures
Macroscopic appearance of the ileal diverticula (a) (arrows) and multiple mesenteric cysts (b) (arrows).
CT scan appearance of the small bowel hamartoma (large diverticula arrows).
Interpretation of the resection specimen histology proved challenging. Macroscopically, the resected 25 cm segment of small bowel contained two thin-walled cysts located on the mesenteric border, one 15 by 14 cm and the other 11 by 1 cm. There was evidence of perforation and a purulent serosal reaction. On sectioning, both lesions showed “honeycombing” with numerous cystic loculi, with their size ranging between 5 and 20 mm. The small bowel mucosa had a granular, thickened, and ulcerated appearance.
Microscopically, the cystic (diverticula) lesions were characterised by numerous mural and subserosal dilated vascular spaces, lined by endothelium surrounded by a layer of smooth muscle fibers. Some of the spaces contained proteinaceous lymph-like material, and others contained blood. The small intestine showed focal ulceration. The lamina propria were expanded with numerous small lymphatic channels. There was evidence of perforation and an acute suppurative serositis. There was no evidence of granulomata or malignancy.
The differential diagnosis lay between cystic lymphangioma, angiomyolipoma, and hamartoma. The consensus opinion was that the lesion was a hamartoma.
The patient was followed up in clinic six months postoperatively with a repeat normal CT scan abdomen and pelvis and was discharged without any further followup.
Hamartoma is very rare benign condition associated with an abnormal location and arrangement of tissues normally found in small intestine [
Summaries of the reported small intestine (ileal) hamartomas with the macro- and microscopic appearances.
Author | Hamartoma | NOC reported | Age and sex | Presentation/symptoms | Treat. | Macroscopic appearance | Microscopic appearance |
---|---|---|---|---|---|---|---|
Fernando and McGovern (1982) [ |
NMVH | 2 | 30 y/F | Chronic GIT bleeding | SR | Stricture | SM, NF, and VC |
36 y/F | Abdo. pain, vomiting, and constipation | SR | Stricture | ||||
Smith et al. (1986) [ |
NMVH | 1 | 50 y/F | Ch. abdo. pain, vomiting, and abdo. mass | SR | Stricture | SM, NF, and VC |
Shepherd and Jass (1987) [ |
NMVH | 4 | 34 y/F | Ch. abdo. pain and D&V. | SR | Stricture | SM, NF, and VC |
58 y/M | Ch. abdo. pain and diarrhea | Stricture | |||||
73 y/F | Ch. abdo. pain | Stricture | |||||
63 y/F | Colicy abdo. pain | Stricture | |||||
Kwasnik et al. (1989) [ |
NMVH | 1 | 91 y/M | GIT bleeding and IO symptoms | SR | Stricture and mass | SM, ganglia, fib. T., lymph., and VC |
Salas et al. (1990) [ |
NMH | 1 | 55 y/F | Ch. abdo. pain, dist., and diarrhea | SR | Stricture | SM, fib. and adipose T., NF, and VC |
Gonzalvez et al. (1995) [ |
MEH | 1 | 2 y/M | Vomiting and GIT bleeding | SR | Intussusception | SM and GE |
Yamagami et al. (1997) [ |
MEH | 1 | 4 m/M | Abdo. pain and vomiting | SR | Intussusception | GE and SM |
Di Benedetto et al. (1998) [ |
IH | 1 | 12 y/M | Abdo. pain, vomiting, and rectal bleeding | SR | Intraluminal polypoid mass | GE and SM |
Cortina et al. (1999) [ |
NMVH | 2 | 73 y/M | IO symptoms | SR | Stricture | SM, NF, VC, collagen, and ganglia |
76 y/M | IO symptoms | Stricture | |||||
Zolota et al. (2000) [ |
NMVH | 1 | 40 y/M | Abdo. pain and diarrhoea followed by IO | SR | Stricture | SM, NF, and VC |
de Sanctis et al. (2001) [ |
NMVH | 1 | 76 y/F | IO symptoms | SR | Stricture | SM, NF, VC, and fibrous tissues |
Ikegami et al. (2006) [ |
MEH | 1 | 5 m/F | Vomiting | SR | Intussusception | GE and SM |
Lin et al. (2011) [ |
Hamartoma | 1 | 13 y/M | Abdo. pain, constipation | SR | Intussusception | Adipose tissues and VC |
Krishnamurthy et al. (2010) [ |
NMVH | 1 | 32 y/M | IO symptoms | SR | Intussusception | SM, NF, VC, and lymphoplasmacytic infiltrates |
NOC: number of cases, Treat.: treatment, NMVH: neuromuscular and vascular hamartoma, MEH: myoepithelial hamartoma, NMH: neuromesenchymal hamartoma, IH: intraluminal hamartoma, GIT: gastrointestinal tract, Ch.: chronic, abdo.: abdominal, D&V: diarrhoea and vomiting, dist.: distension, IO: intestinal obstruction, SR: surgical resection, SM: smooth muscles, NF: nerve fibres, VC: vascular channels, lymph.: lymphatics, GE: glandular epithelium, and fib. T.: fibrous tissues.
In 1940, Clark, used the term myoepithelial hamartoma (MEH) to describe the submucosal masses of epithelial glandular cells and smooth muscles were found in eight cases [
Nakayama et al. present a case of Cowden hamartomatous syndrome complaining of GIT bleeding and melena. It was identified as having multiple GIT hamartomas with arteriovenous malformation as a source of the bleeding, and the histopathology of the resected jejunal and ileal specimen showed the presence of adipose tissue and ectatic lymphatic vessels [
To our knowledge, we present the first case of small bowel hamartoma in young male manifested with lower abdominal pain, and CT scan showed massively dilated small bowel mimicking large intra-abdominal collection (Figure
Histology images of the reported small bowel hamartoma. (a) Normal small intestinal mucosa top arrow and dilated thin-walled vascular spaces in the muscularis propria bottom arrow. (b) High power viewing of the vascular lesion in which a dilated, vein-like blood vessel with some smooth muscle fibres in the wall bottom arrow and adipose tissue top arrow. (c) A closer view of the lesion, with many closely packed vascular and lymphatic spaces within the bowel wall, contains blood (top arrow) and proteinaceous lymph-like material (bottom arrow), respectively. (d) Magnified view of the aggregated abnormal vascular “some have prominent muscular wall” and lymphatic spaces.
Small intestine (ileum) hamartoma is a rare benign entity, but like other small bowel tumours, it presents with features of obstruction and is managed by small bowel resection.
The authors declare no conflict of interests.