Late-onset triple A syndrome: a risk of overlooked or delayed diagnosis and management.

[triple a syndrome]

A 33 -year -old man was referred for the first time to the Division of Neurology because of the presence and progression of neurological symptoms . Dysphagia , weakness , reduced tear production , and nasal speech were present . In order to point the attention of late-onset triple A syndrome we describe this case and review the literature .Hormonal and biochemical evaluation , Schirmer test , tilt test and genetic testing for AAAS gene mutations .Late -onset triple A syndrome caused by a novel homozygous missense mutation in the AAAS gene (A 167 V in exon 6 ) was diagnosed at least 17 years after symptom onset .The association between typical signs and symptoms of triple A syndrome should suggest the diagnosis even if they manifest in adulthood . The diagnosis should be confirmed by Schirmer test , endocrine testing (both basal and dynamic ), genetic analysis , and detailed gastroenterological and neurological evaluations . Awareness of the possible late onset of the disease and of diagnosis in adulthood is still poor among clinicians , the acquaintance with the disease is more common among pediatricians . The importance of an adequate multidisciplinary clinical approach , dynamic testing for early diagnosis of adrenal insufficiency and periodical reassessment of adrenal function are emphasized .

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Diseases presenting "dynamic testing for early diagnosis of adrenal insufficiency and periodical reassessment of adrenal function are emphasized" symptom

triple a syndrome

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