Rare Diseases Symptoms Automatic Extraction

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 presenting "hypoperistalsis" symptom

  • megacystis-microcolon-intestinal hypoperistalsis syndrome

This symptom has already been validated