Rare Diseases Symptoms Automatic Extraction

Megacystis microcolon intestinal hypoperistalsis syndrome with bilateral duplicated systems.

[megacystis-microcolon-intestinal hypoperistalsis syndrome]

A 29-year-old multigravida woman presented for her second prenatal ultrasound evaluation at 30 weeks of gestation. The study showed a female fetus, bilateral duplicated systems with severe hydronephrosis in the upper pole moieties and a massively distended bladder. Initial interpretation suggested ectopic/obstructing bilateral ureteroceles. To evaluate these findings further, a prenatal magnetic resonance imaging scan was obtained, documenting the absence of ureteroceles. The presumptive diagnosis of megacystis microcolon intestinal hypoperistalsis syndrome was made. After birth, contrast enema confirmed the presence of microcolon. This appears to be the first reported case of megacystis microcolon intestinal hypoperistalsis syndrome with bilateral duplex systems evaluated with prenatal magnetic resonance imaging.

Diseases presenting "first reported case" symptom

  • achondroplasia
  • acute rheumatic fever
  • alexander disease
  • allergic bronchopulmonary aspergillosis
  • aniridia
  • cutaneous mastocytosis
  • dedifferentiated liposarcoma
  • epidermolysis bullosa simplex
  • fabry disease
  • focal myositis
  • harlequin ichthyosis
  • heparin-induced thrombocytopenia
  • kabuki syndrome
  • malignant atrophic papulosis
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • pleomorphic liposarcoma
  • primary hyperoxaluria type 1
  • thoracic outlet syndrome
  • waldenström macroglobulinemia
  • well-differentiated liposarcoma
  • werner syndrome
  • wolf-hirschhorn syndrome

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