Rare Diseases Symptoms Automatic Extraction

Severe megacystis and bilateral hydronephrosis in a female fetus.

[megacystis-microcolon-intestinal hypoperistalsis syndrome]

The differential diagnosis for antenatal bladder dilation and hydronephrosis is extensive, ranging from posterior urethral valves to neurogenic bladder. We present a case of a female fetus diagnosed antenatally with severe megacystis and bilateral hydroureteronephrosis. The patient was found to have megacystis-microcolon-intestinal hypoperistalsis syndrome, a rare, congenital, and generally fatal disorder in which there is functional obstruction of the bladder and intestine.

Diseases presenting "neurogenic bladder" symptom

  • cohen syndrome
  • cowden syndrome
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • x-linked adrenoleukodystrophy

This symptom has already been validated