Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS): report of a case with prolonged survival and literature review.

[megacystis-microcolon-intestinal hypoperistalsis syndrome]

Megacystis-microcolon -intestinal hypoperistalsis syndrome (MMIHS ) was first described in 1976 . A rare congenital autosomal recessive alteration that predominantly affects females (4 :1 ratio ), it is characterized by the presence of distended bladder (without distal urinary tract obstruction ), microcolon , and decreased or absent intestinal peristalsis . Inconsistent and non-specific histological changes affecting the bladder and intestinal smooth muscle , and intrinsic innervations , have been reported most frequently . MMIHS usually has a fatal prognosis in the first year of life ; nevertheless there are some case reports of longer survival . Here is presented the case report of a boy with a diagnosis of MMIHS who has achieved prolonged survival , followed by a review of the literature .

Diseases
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Diseases presenting "first year" symptom

22q11.2 deletion syndrome

achondroplasia

alpha-thalassemia

aniridia

benign recurrent intrahepatic cholestasis

child syndrome

cohen syndrome

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cowden syndrome

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erythropoietic protoporphyria

gm1 gangliosidosis

hirschsprung disease

homocystinuria without methylmalonic aciduria

junctional epidermolysis bullosa

kabuki syndrome

kindler syndrome

krabbe disease

lymphangioleiomyomatosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

neonatal adrenoleukodystrophy

phenylketonuria

pleomorphic liposarcoma

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

sneddon syndrome

waldenstrÃ¶m macroglobulinemia

wolf-hirschhorn syndrome

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