Rare Diseases Symptoms Automatic Extraction

Magnetic resonance imaging for prenatal diagnosis of multisystem disease: megacystis microcolon intestinal hypoperistalsis syndrome.

[megacystis-microcolon-intestinal hypoperistalsis syndrome]

We discuss a third-trimester diagnosis of Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) using magnetic resonance imaging (MRI) and consider the benefits of MRI as a noninvasive imaging technique after routine ultrasonography reveals genitourinary pathology requiring further elucidation. MMIHS is a rare cause of functional gastrointestinal and genitourinary obstruction in newborns. Because of the poor prognosis of MMIHS, prenatal diagnosis is warranted for optimal prenatal counseling and postnatal treatment. Although MMIHS commonly presents on ultrasonography, the limitations of ultrasonography make definitive diagnosis difficult. However, MRI is safe, accurate, and can be used for early prenatal diagnoses of multisystem diseases.

Diseases presenting "poor prognosis" symptom

  • adrenal incidentaloma
  • alexander disease
  • alpha-thalassemia
  • carcinoma of the gallbladder
  • cholangiocarcinoma
  • cushing syndrome
  • cutaneous mastocytosis
  • dedifferentiated liposarcoma
  • erdheim-chester disease
  • esophageal adenocarcinoma
  • esophageal carcinoma
  • esophageal squamous cell carcinoma
  • hodgkin lymphoma, classical
  • junctional epidermolysis bullosa
  • kindler syndrome
  • liposarcoma
  • locked-in syndrome
  • lymphangioleiomyomatosis
  • malignant atrophic papulosis
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • papillon-lefèvre syndrome
  • pleomorphic liposarcoma
  • primary effusion lymphoma
  • pyomyositis
  • sneddon syndrome
  • systemic capillary leak syndrome
  • von hippel-lindau disease
  • waldenström macroglobulinemia
  • well-differentiated liposarcoma
  • werner syndrome
  • wiskott-aldrich syndrome
  • zellweger syndrome

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