Chronic mild diarrhoea, stunted growth and neuromuscular abnormalities.
This report describes a 3 year-old girl with signs of ventricular hypertrophy, short stature, and persistent diarrhoea (without steatorrhoea or creatorrhoea) which was resistant to therapy. There was no clinical evidence of myopathy but a myopathic pattern was found on electromyography. Biochemical studies revealed no abnormalities. Routine histological studies of biopsied muscle showed no obvious structural abnormalities. Examination of 1 micrometer tissue sections revealed groups of atrophic fibers. Electronmicroscopy revealed widened spaces between the myofibrils with disruption of filament arrangement. The mitochondria in the motor end-plates were very distended and almost devoid of cristae.
D002675:Child, Preschool; D002908:Chronic Disease; D003967:Diarrhea / Q000150:complications*; D004392:Dwarfism / Q000150:complications*; D004576:Electromyography; D005260:Female; D006801:Humans; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D009045:Motor Endplate / Q000648:ultrastructure; D009132:Muscles / Q000648:ultrastructure; D009210:Myofibrils / Q000648:ultrastructure; D009468:Neuromuscular Diseases / Q000150:complications* / Q000175:diagnosis / Q000473:pathology