Abstract
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.
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Huebner A, Kaindl AM, Knobeloch KP, Petzold H, Mann P, Koehler K (2004) The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex. Endocr Res 30:891–899
Phillip M, Hershkovitz E, Schulman H (1996) Adrenal insufficiency after achalasia in the triple-A syndrome. Clin Pediatr 35:99–100
Lanes R, Plotnick LP, Bynum TE, Lee PA, Casella JF, Fox CE, Kowarski AA, Migeon CJ (1980) Neurological and mineralocorticoid deficiency associated with achalasia. J Clin Endocrinol Metab 50:268–270
Gazarian M, Cowell CT, Bonney M, Grigor WG (1995) The 4A syndrome: adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities. Eur J Pediatr 154:18–23
Allgrove J, Clatden GS, Grant DB, Macaulay JC (1978) Familial glucocorticoid deficiency with achalasia of cardia and deficient tear production. Lancet 1:1284–1286
Tullio-Pelet A, Salomon R, Hadj-Rabia S et al (2000) Mutant WD repeat protein in triple A syndrome. Nat Genet 26:332–335
Brooks BP, Kleta R, Caruso RC, Stuart C, Ludlow J, Stratakis CA (2004) Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report. BMC Ophthalmol 4:7
Handschug K, Sperling S, Yoon SJ, Hennig S, Clark AJ, Huebner A (2001) Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. Hum Mol Genet 10:283–290
Goizet C, Catargi B, Tison F et al (2002) Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation. Neurology 58:962–965
Huebner A, Kaindl AM, Braun R, Handschug K (2002) New insights into the molecular basis of the triple A syndrome. Endocr Res 28:733–739
Cronshaw JM, Krutchinsky AN, Zhang W, Chait BT, Matunis MJ (2002) Proteomic analysis of the mammalian nuclear pore complex. J Cell Biol 158:915–927
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An erratum to this article can be found at http://dx.doi.org/10.1007/s10067-007-0542-0
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Onat, A.M., Pehlivan, Y., Buyukhatipoglu, H. et al. Unusual presentation of triple A syndrome mimicking Sjögren’s syndrome. Clin Rheumatol 26, 1749–1751 (2007). https://doi.org/10.1007/s10067-006-0498-5
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DOI: https://doi.org/10.1007/s10067-006-0498-5