Triple A syndrome mimicking ALS.
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.
Strauss
Maria
M
Department of Neurology, Martin-Luther-University, Halle, Saale, Germany.
Koehler
Katrin
K
Krumbholz
Manuela
M
Huebner
Angela
A
Zierz
Stephan
S
Deschauer
Marcus
M
D000303:Adrenal Cortex Diseases / Q000175:diagnosis / Q000503:physiopathology; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis / Q000503:physiopathology; D025063:Chromosome Disorders / Q000175:diagnosis / Q000503:physiopathology; D004931:Esophageal Achalasia / Q000175:diagnosis / Q000503:physiopathology; D005260:Female; D006801:Humans; D009419:Nerve Tissue Proteins / Q000235:genetics*; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*; D013577:Syndrome
C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins