Rare Diseases Symptoms Automatic Extraction

Recurrent vomiting as first symptom of triple-a syndrome--a case report.

[triple a syndrome]

Triple-A syndrome is a very rare pathology in childhood, consisting of achalasia, alacrima and adrenal insufficiency. The order of manifestation of these three main symptoms is variable. Here we present a case of Triple-A syndrome with recurrent vomiting caused by achalasia as first symptom. At the same time, alacrima was diagnosed. Several years later adrenal insufficiency occurred and substitution therapy with hydrocortisone was started. The follow-up of patients with achalasia should pay attention to symptoms of adrenal insufficiency.

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