Rare disease
Triple A syndrome: two novel mutations in the AAAS gene
1 Lenval Foundation-Children’s Hospital, Paediatric Department, 57 Avenue de la Californie, Nice, 06200, France
2 Children’s Hospital, Technical University Dresden, Fetscherstrasse 74, Dresden, 01307, Germany
Correspondence to:
Elisabeth Baechler-Sadoul, elisabeth.baechler{at}lenval.com
Triple A syndrome is a rare disease of autosomal recessive inheritance. It was first described in 1978. The typical triad includes adrenocorticotrophic-hormone-resistant glucocorticoid insufficiency, reduced or absent tearing (alacrima) and achalasia. But clinical symptoms can be extremely heterogeneous and of variable clinically expression. This report describes a 7-year-old boy with a 1 year history of fatigue and muscle weakness. Physical examination showed skin and mucosal hyperpigmentation, and hormonal analysis revealed isolated glucocorticoid function. Medical history was marked by megaoesophagus and achalasia. The absence of tears when crying had been noted since birth. In the presence of the classical triad, triple A syndrome was diagnosed. Clinical diagnosis was confirmed by molecular analysis of the AAAS gene on chromosome 12q13. The novel compound heterozygous mutation c.1304delA and c.1292-1294delTTCinsA was found.
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