Triple A syndrome mimicking ALS.

[triple a syndrome]

We report a 22 -year -old female who presented with distal muscular atrophy and weakness in all limbs for two years . Reflexes were symmetrically brisk and electrodiagnostic studies were consistent with upper and lower motor neuron involvement . A diagnosis of juvenile ALS was considered . However , surgery for achalasia in childhood and identification of alacrima and adrenal insufficiency suggested Triple A syndrome accompanied by neurological symptoms . Sequencing of the AAAS gene identified compound heterozygous mutations confirming the clinical diagnosis and demonstrating that Triple A syndrome can mimic juvenile ALS .