Intestinal ganglioneuromatosis: an unusual aetiology for occult gastrointestinal bleeding

Abstract

Intestinal ganglioneuromatosis is a rare disorder of the enteric nervous system. It is often associated with neurofibromatosis type 1 and multiple endocrine neoplasia type 2b but, more rarely, it can present in a sporadic and isolated form. A 66-year-old man presented with a 14-year history of iron deficiency anaemia, with no visible bleeding, requiring occasional blood transfusions. Haematological causes of anaemia were thoroughly excluded, and conventional endoscopic and radiological examinations showed no lesions. Capsule enteroscopy identified an ulcerated stenosis in the small bowel, but the biopsies taken at balloon enteroscopy were inconclusive. The patient underwent a laparotomy, which revealed a stiff and ulcerated stenosis in the ileum. Histological analysis demonstrated the presence of diffuse intestinal ganglioneuromatosis. Three years after surgery, the patient is asymptomatic, with normal haemoglobin levels. This case demonstrates an isolated form of intestinal ganglioneuromatosis, with an atypical presentation, difficult to diagnose despite an exhaustive evaluation.

Figure 1

Capsule enteroscopy image revealing an ulcerated stenosis in the small bowel—probably in the distal jejunum or proximal ileum.

Figure 2

Small jejunal ulcer found on double balloon enteroscopy.

Figure 3

Surgical specimen of an ileum segment that presented a stiff and ulcerated stenosis.

Figure 4

Diffuse infiltration of the submucosa by nerve fibres and ganglion cells that is so exuberant, it causes ulceration of the mucosa and reaches the muscular layer (H&E ×100).

Figure 5

Proliferation of nerve fibres and ganglion cells (H&E ×200).

Figure 6

Immunohistochemical study showing intense and diffuse expression for neuron-specific enolase (NSE) (×200).