Megacystis microcolon intestinal hypoperistalsis syndrome with severe psychomotor retardation: report of one case.

[megacystis-microcolon-intestinal hypoperistalsis syndrome]

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS ) is a rare and severe form of neonatal functional bowel obstruction . Affected neonates present with vomiting , an overdistended abdomen , and a huge bladder after birth , and they usually die early in life despite intensive medical and /or surgical management . We report the case of a girl aged 3 years 7 months who had MMIHS with severe psychomotor retardation ; autopsy was performed after her death .

Diseases
Validation

Diseases presenting "severe form" symptom

alpha-thalassemia

benign recurrent intrahepatic cholestasis

canavan disease

child syndrome

congenital adrenal hyperplasia

dentinogenesis imperfecta

dystrophic epidermolysis bullosa

fabry disease

familial hypocalciuric hypercalcemia

familial mediterranean fever

harlequin ichthyosis

heparin-induced thrombocytopenia

hirschsprung disease

inclusion body myositis

kindler syndrome

lamellar ichthyosis

legionellosis

locked-in syndrome

megacystis-microcolon-intestinal hypoperistalsis syndrome

neonatal adrenoleukodystrophy

neuralgic amyotrophy

papillon-lefèvre syndrome

zellweger syndrome

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