Rare Diseases Symptoms Automatic Extraction

Prenatal diagnosis of megacystis-microcolon-intestinal hypoperistalsis syndrome: contribution of amniotic fluid digestive enzyme assay and fetal urinalysis.

[megacystis-microcolon-intestinal hypoperistalsis syndrome]

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a usually lethal disease during the first year of life. There is no specific ultrasound prenatal diagnosis and no identified genetic locus. The value of amniotic fluid digestive enzyme assay and fetal urine biochemistry in the prediction of MMIHS was analysed.Retrospective study of 14 MMIHS cases. Amniotic fluid digestive enzymes and fetal urine biochemistry were compared in MMIHS and megabladder (63 and 264 cases respectively).Abnormal amniotic fluid digestive enzyme profile (vomiting of bile or digestive secretion leakage) was observed in 8/10 MMIHS cases. These profiles were observed in 7/63 controls; 80% sensitivity (95%CI = 55%-100%); 89% specificity (95%CI = 81%-96%). Fetal urinalysis was normal in 12/12 MMIHS cases except high calcium (>0.6 mmol/l). This profile was observed in 33/264 megabladder control cases; 100% sensitivity; 98.7% specificity (95%CI = 83.5%-91.5%).For the first time, we propose a prenatal diagnosis of MMIHS based on amniotic fluid digestive enzyme assay and on fetal urinalysis.

Diseases presenting "vomiting" symptom

  • 22q11.2 deletion syndrome
  • alexander disease
  • alpha-thalassemia
  • aromatase deficiency
  • benign recurrent intrahepatic cholestasis
  • cadasil
  • carcinoma of the gallbladder
  • child syndrome
  • cholangiocarcinoma
  • congenital toxoplasmosis
  • cutaneous mastocytosis
  • dedifferentiated liposarcoma
  • esophageal squamous cell carcinoma
  • homocystinuria without methylmalonic aciduria
  • kallmann syndrome
  • locked-in syndrome
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • neonatal adrenoleukodystrophy
  • primary hyperoxaluria type 1
  • proteus syndrome
  • scrub typhus
  • severe combined immunodeficiency
  • systemic capillary leak syndrome
  • triple a syndrome
  • typhoid
  • von hippel-lindau disease

This symptom has already been validated