Diffuse Intestinal Ganglioneuromatosis in the Adult

A 44 year old woman consulted due to epigastric pain, nausea, diarrhea and the loss of more than 20 kg during the last 3 years. On examination: BMI 10.68 and a distended without signs of peritonitis. Computerised tomography (Fig. 1) showed dilation of small bowel loops up to the proximal ileum, where a mass with the soft-tissue density caused retrograde dilation of the small intestine. Exploratory laparoscopy showed major dilation of the whole small intestine with intermittent zones of stenosis, and a laparotomy was performed (Fig. 2).

Fig. 1

Fig. 2

Diagnosis: diffuse intestinal ganglioneuromatosis of the transmural type.