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 "vomiting" symptom

22q11.2 deletion syndrome

alexander disease

alpha-thalassemia

aromatase deficiency

benign recurrent intrahepatic cholestasis

cadasil

carcinoma of the gallbladder

child syndrome

cholangiocarcinoma

congenital toxoplasmosis

cutaneous mastocytosis

dedifferentiated liposarcoma

esophageal squamous cell carcinoma

homocystinuria without methylmalonic aciduria

kallmann syndrome

locked-in syndrome

megacystis-microcolon-intestinal hypoperistalsis syndrome

neonatal adrenoleukodystrophy

primary hyperoxaluria type 1

proteus syndrome

scrub typhus

severe combined immunodeficiency

systemic capillary leak syndrome

triple a syndrome

typhoid

von hippel-lindau disease

This symptom has already been validated