Unusual presentation of triple A syndrome mimicking Sjögren's syndrome

Clin Rheumatol. 2007 Oct;26(10):1749-51. doi: 10.1007/s10067-006-0498-5. Epub 2006 Dec 19.


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.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Cortex Diseases / diagnosis*
  • Adult
  • Child
  • Consanguinity
  • Deglutition Disorders / pathology
  • Diagnosis, Differential
  • Esophageal Achalasia / diagnosis*
  • Female
  • Humans
  • Inflammation
  • Lacrimal Apparatus Diseases / diagnosis*
  • Polymorphism, Single-Stranded Conformational
  • Sequence Analysis, DNA
  • Sjogren's Syndrome / diagnosis*
  • Syndrome