Hollow visceral myopathy

A 29 year old man with a history of childhood polymyositis developed insulin dependent diabetes and was found coincidentally to have chronic intestinal pseudo-obstruction due to visceral myopathy. Multiple full thickness biopsy specimens showed severe disease in the duodenum and the proximal jejunum only, with less involvement distally. Total parenteral nutrition has been avoided for more than a year by enteral feeding through a fine bore jejunostomy catheter positioned with its tip in the distal jejunum.

We evaluated colon manometry as a means of differentiating causes of intractable constipation in children. We studied pressure changes in the transverse, descending, and rectosigmoid colons of 23 children with intractable constipation. All patients had a history of less than one bowel movement per week for longer than 2 years without resolution after conventional medical management. The possibility of Hirschsprung disease was excluded in all. On the basis of pathologic and manometric studies of the upper gastrointestinal tract, 10 patients had a diagnosis of gastrointestinal neuropathy and two had a diagnosis of myopathy...

A family with hereditary hollow visceral myopathy is described, with characteristic variation in expression between affected members. Very severe and widespread involvement of the gastrointestinal and urinary tracts in 1 patient contrasted with isolated urinary tract involvement in 2 others, and it is suggested that hollow visceral myopathy should be considered in the differential diagnosis of primary detrusor failure. The management of urinary tract involvement is discussed and a conservative approach is recommended...

Twelve relatives of a 15-year-old girl with idiopathic intestinal pseudoobstruction were studied with esophageal manometry or cine-esophagography to determine whether the disease was genetically transmitted. Four maternal relatives, including the patient's mother, 13-year-old brother, one aunt, and one of that aunt's children had mild dysphagia and esophageal motor dysfunction. In addition, the patient's mother and 13-year-old brother had a flaccid bladder and bilateral ureteral reflux, respectively. The brother had abnormal bladder smooth muscle by light microscopy...

A 15-year-old girl with idiopathic intestinal pseudoobstruction is reported. She presented with a long term history of low grade obstructive symptoms, diarrhea, and poor nutrition culminating in an acute obstructive attack leading to exploratory laparotomy. At surgery, the small bowel and colon were dilated, with no mechanical obstruction found. Further evaluation revealed her to have a diffuse disorder of gastrointestinal smooth muscle function involving esophagus, small bowel, and colon. Because medical management failed to control symptom, a gastrojejunostomy was done to bypass a megaduodenum...

The purpose of this study was to determine whether progressive systemic sclerosis (PSS) of the gastrointestinal tract and hereditary hollow visceral myopathy are two distinguishable disorders of intestinal smooth muscle. We coded and blindly reviewed 50 specimens of tissue from the small intestine of 15 normal controls, 4 patients with visceral myopathy, 5 patients with PSS and intestinal pseudoobstruction, and 5 patients with PSS but no pseudoobstruction. We determined that there is a fundamental difference between the pathology of these two disorders...