A forethought about obscure gastrointestinal bleeding: an unusual ileal mass

The patient was a 32-year-old woman admitted for hematochezia, with a hemoglobin of 67 g/L and fecal occult blood test of 4+. Emergency gastroscopy and colonoscopy were unremarkable. A double balloon enteroscopy revealed a lobulated ileal mass located 70 cm proximal from the ileocecal valve ([Fig. 1], [Video 1]). Positron emission tomography/computed tomography (PET/CT) showed that the lesion was located in the pelvic segment of the small intestine, with a standardized uptake value index of 3.6 ([Fig. 2]). Surgery was recommended owing to the patient’s low hemoglobin levels and risk of recurrent gastrointestinal bleeding. A gross specimen revealed a lobulated, polypoid mass in the ileum, measuring up to 1.5 cm × 0.8 cm ([Fig. 3]).

Fig. 1 Endoscopic view of the lesion.

Video 1 Retrograde double-balloon enteroscopy was performed using the water-exchange method.

Fig. 2 Positron emission tomography/computed tomography revealed a lesion with increased uptake in the pelvic segment of the small intestine.

Fig. 3 Macroscopic view of the lesion after surgical resection.

A final diagnosis of neuromuscular and vascular hamartoma of the small intestine was made. Postoperative pathology revealed a mixed component of blood vessels, nerve fibers, and smooth muscle consistent with that of a hamartoma ([Fig. 4]). The haphazard arrangement of the vascular structures and muscular tissues were confirmed by CD31 and desmin staining, respectively. Aberrant nerve bundles and ganglion cells were highlighted by S100 staining ([Fig. 5]).

Fig. 4 HE staining showed an aberrant arrangement of vascular structures, muscular tissues and nerve bundles.

Fig. 5 Immunohistochemistry confirmed the presence of vascular, muscular and nerve tissues

Neuromuscular and vascular hamartoma is a rare gastrointestinal lesion first described in 1982 by Fernando and McGovern [1]. Clinical symptoms can be non-specific and can range from chronic abdominal pain and intermittent intestinal obstruction to gastrointestinal bleeding. This condition can occur as single or multiple strictures or a polypoid mass. It is mainly composed of disorganized fascicles of blood vessels, smooth muscle, and bundles of non-myelinated nerve fibers with scattered abnormal ganglion cells, and occurs focally within a segment of the small intestine [2]. Given that similar histological features seen in cryptogenic multifocal ulcerous stenosing enteritis or diaphragm disease of the small bowel, the hamartomatous nature of neuromuscular and vascular hamartoma has been argued [3]. However, our case demonstrated a rare single, lobulated polypoid lesion of the small intestine with histological features consistent with neuromuscular and vascular hamartoma and cannot be attributed to other reactive diseases.

Endoscopy_UCTN_Code_TTT_1AP_2AD

Publication History

Article published online:
10 March 2022

• References

• 1 Fernando S, Mcgovern V. Neuromuscular and vascular hamartoma of small bowel. Gut 1982; 23: 1008-1012
• 2 Hemmings C. Neuromuscular and vascular hamartoma arising in a Meckelʼs diverticulum. Pathology 2006; 38: 173-174
• 3 Setaffy L, Osuna M, Plieschnegger W. et al. Cryptogenic multifocal ulcerous stenosing enteritis (CMUSE), and neuromuscular and vascular hamartoma (NMVH): two sides of the same coin?. Endoscopy 2015; 47: 345-348