title: Axonal dystrophy presenting as the megacystis-microcolon-intestinal hypoperistalsis syndrome.
abstract: 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.
authors.affiliation: Section of Neuropathology, Yale University, School of Medicine, New Haven, Connecticut.
authors.forename: M
authors.initials: M
authors.lastname: al-Rayess
authors.forename: M W
authors.initials: MW
authors.lastname: Ambler
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D001369:Axons / Q000473:pathology*; D003106:Colon / Q000002:abnormalities* / Q000294:innervation; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007410:Intestinal Diseases / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D007415:Intestinal Obstruction / Q000473:pathology; D010528:Peristalsis; D013116:Spinal Cord / Q000473:pathology; D013577:Syndrome; D001743:Urinary Bladder / Q000002:abnormalities*