Rare Diseases Symptoms Automatic Extraction

Megacystis-microcolon-intestinal hypoperistalsis syndrome.

[megacystis-microcolon-intestinal hypoperistalsis syndrome]

The megacystis-microcolon-intestinal hypoperistalsis syndrome is a congenital disorder characterized by urinary bladder distension and hypoperistalsis throughout the entire gastrointestinal tract. We present a new case with the typical clinical, radiological, and pathological findings of the syndrome. The diagnosis should be suspected in a patient who present clinically with intestinal obstruction and urinary retention, and confirmed with imaging studies, including abdominal plain films, urinary tract ultrasonography, and contrast studies of the colon and the bladder. The prognosis is generally very poor. Our patient died secondary to sepsis on day 5 of life.

Diseases presenting "congenital disorder" symptom

  • 22q11.2 deletion syndrome
  • coats disease
  • congenital adrenal hyperplasia
  • cystinuria
  • dentinogenesis imperfecta
  • holt-oram syndrome
  • kabuki syndrome
  • kindler syndrome
  • lamellar ichthyosis
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • oligodontia
  • pendred syndrome
  • proteus syndrome
  • wolf-hirschhorn syndrome

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