Axonal dystrophy presenting as the megacystis-microcolon-intestinal hypoperistalsis syndrome

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a neonatal intestinal syndrome, characterized by defective peristalsis and bladder dilatation, refractory to pharmacological treatment. Examinations of bowel and bladder have failed to demonstrate a pathological explanation for this syndrome. We describe a 7-month-old female infant with MMIHS who had generalized axonal dystrophy of her central, peripheral, and autonomic nervous systems, which may provide a neuropathological explanation for some cases of MMIHS.