Rare Diseases Symptoms Automatic Extraction

Unusual presentation of triple A syndrome mimicking Sjögren's syndrome.

[triple a syndrome]

Triple A syndrome is a rare autosomal recessive disorder characterized by alacrima, achalasia, and adrenal insufficiency. Sjögren's syndrome (SS) is a chronic inflammatory disorder manifested primarily by diminished lacrimal and salivary gland secretions, resulting in symptoms of dry eyes and dry mouth, the so-called "sicca complex". However, a variety of other manifestations also can occur, which can be termed "nonexocrine manifestations". One of the frequent nonexocrine manifestations is dysphagia. In this paper, we present an unusual form of Triple A disease mimicking Sjögren's syndrome, which leads to a challenging diagnosis.

Diseases presenting "alacrima" symptom

  • neonatal adrenoleukodystrophy
  • triple a syndrome

This symptom has already been validated