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 "adrenal insufficiency" symptom

  • adrenal incidentaloma
  • adrenomyeloneuropathy
  • aromatase deficiency
  • congenital adrenal hyperplasia
  • cushing syndrome
  • familial hypocalciuric hypercalcemia
  • neonatal adrenoleukodystrophy
  • scrub typhus
  • triple a syndrome
  • von hippel-lindau disease
  • x-linked adrenoleukodystrophy

This symptom has already been validated