Degenerative leiomyopathy in African children: a review of current perspectives.

The syndrome of degenerative leiomyopathy causing intestinal obstruction clinically manifests in young indigenous African children as massive megacolon without aganglionosis. Eighteen children have been seen over a 16 year period from a localized geographic area. There were 10 males and 8 females having a mean age of 9.5 years at presentation and a mean duration of symptoms of 4.3 years. The youngest was 6 months old. All had progressive abdominal distension and infrequent stooling but 11 had intermittent diarrhoea and 9 had colicky abdominal pain. Gross gaseous distension of the large bowel with extension into small intestine occurred in 9 and this extended into stomach and oesophagus in 4. Biopsy of the dilated, thin walled bowel showed smooth muscle degeneration and necrosis with replacement by fibrous tissue. Neuronal cells of Auerbach's plexus tend to be displaced into the circular layer of smooth muscle with mild inflammatory changes. Some small arteries show medial fibrosis with subintimal fibroblastic proliferation. Acetylcholinesterase and immunohistochemical staining with neural and muscle markers are within normal limits. One child died while 14 have been maintained on prokinetic agents, low residue diets, laxatives and enemas. Nine children have required surgical intervention of whom 4 had volvulus and 3 adhesive bowel obstruction. Degenerative leiomyopathy is a distinctive entity with classical clinical and histological features. The aetiology is still obscure.