Triple A syndrome: two novel mutations in the AAAS gene.

[triple a syndrome]

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 12 q 13 . The novel compound heterozygous mutation c .1304 delA and c .1292 -1294 delTTCinsA was found .

Diseases
Validation

Diseases presenting "muscle weakness" symptom

alexander disease

canavan disease

coats disease

cohen syndrome

cystinuria

familial mediterranean fever

focal myositis

inclusion body myositis

neuralgic amyotrophy

pyomyositis

severe combined immunodeficiency

systemic capillary leak syndrome

thoracic outlet syndrome

triple a syndrome

von hippel-lindau disease

This symptom has already been validated