Strauss Maria, Koehler Katrin, Krumbholz Manuela, Huebner Angela, Zierz Stephan, Deschauer Marcus
Department of Neurology, Martin-Luther-University, Halle, Saale, Germany.
Amyotroph Lateral Scler. 2008 Oct;9(5):315-7. doi: 10.1080/17482960802259016.
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.
我们报告了一名22岁女性，她出现四肢远端肌肉萎缩和无力已有两年。反射对称亢进，电诊断研究结果与上下运动神经元受累相符。考虑诊断为青少年肌萎缩侧索硬化症（ALS）。然而，患者童年期有贲门失弛缓症手术史，且存在泪腺分泌减少和肾上腺功能不全，提示为伴有神经症状的三腺综合征（Triple A综合征）。对AAAS基因进行测序发现复合杂合突变，证实了临床诊断，并表明三腺综合征可酷似青少年ALS。
