Massive gastrointestinal dilatation in a case of hereditary hollow visceral myopathy

Hereditary hollow visceral myopathy (HHVM) is a rare genetic cause of intestinal pseudo-obstruction described sparingly in the literature . A 21-year-old-male was diagnosed with HHVM based on clinical symptoms, gastroduodenal manometry demonstrating low-amplitude contractions in the stomach and small intestines, and intestinal histopathology demonstrating diffuse fibrous replacement of smooth muscle; his father was also affected, with similar manometric and histopathologic changes. He presented acutely to the Emergency Room with complaints of abdominal pain, recurrent emesis of feculent material, and severe gaseous distention. An abdominal radiograph was obtained, which appeared to demonstrate a massively dilated stomach and loop of bowel (). A follow-up computed tomography (CT) study was obtained, which confirmed the presence of a massively dilated stomach which extended from the left diaphragm down to the level of the pubic symphysis, as well as several massively dilated loops of distal small bowel with prominent air-fluid levels, and the absence of free air [(A) coronal view; (B) axial view].
Source: Digestive and Liver Disease - Category: Gastroenterology Authors: Tags: Image of the Month Source Type: research