Rare Diseases Symptoms Automatic Extraction

Spinal cord atrophy in triple A syndrome associated with a novel compound heterozygous mutation.

[triple a syndrome]

A 38-year-old male patient was admitted with slowly progressive spastic gait disturbance. Imaging revealed general spinal cord atrophy. Because of adrenal insufficiency, alacrima and achalasia, triple A syndrome was suspected. This is a case report of a triple A syndrome patient with a predominance of neurological features and a new heterozygous compound mutation in triple A syndrome gene.

Diseases presenting "year-old male patient" symptom

  • adrenal incidentaloma
  • adrenomyeloneuropathy
  • alexander disease
  • allergic bronchopulmonary aspergillosis
  • benign recurrent intrahepatic cholestasis
  • cadasil
  • coats disease
  • cohen syndrome
  • cystinuria
  • dentinogenesis imperfecta
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • esophageal carcinoma
  • fabry disease
  • heparin-induced thrombocytopenia
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • liposarcoma
  • malignant atrophic papulosis
  • monosomy 21
  • oligodontia
  • papillon-lefèvre syndrome
  • pendred syndrome
  • pleomorphic liposarcoma
  • triple a syndrome
  • waldenström macroglobulinemia
  • well-differentiated liposarcoma

You can validate or delete this automatically detected symptom