Neurologic Presentation of Triple A Syndrome
Neurologic Presentation of Triple A Syndrome
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DOI：
10.1016/j.pediatrneurol.2011.07.003
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发表时间：
2011-11-01
影响因子：
3.8
通讯作者：
Sarkar, Ajoy
中科院分区：
文献类型：
--
作者：
Dixit, Abhijit;Chow, Gabriel;Sarkar, Ajoy
“aaa”综合征是一种罕见的常染色体隐性遗传病，其主要临床特征为白斑、贲门失弛缓和肾上腺功能衰竭。大多数患者还会出现一些神经系统异常。我们描述了一个11岁的男孩与aaa综合征谁提出了进行性轴突运动神经病。分子分析显示AAAS基因存在复合杂合突变，证实了临床诊断。aaa综合征患者的临床表现是多变的。我们的病人在儿童早期表现出神经系统的问题，在此条件的其他特征明显之前。我们强调这种多系统疾病的神经学表现。在存在复杂轴突神经病变时，应寻求这种情况的其他特征。(C) 2011爱思唯尔公司版权所有。
"Triple A" syndrome is a rare, autosomal recessive condition whose main clinical features are alacrima, achalasia, and adrenal failure. Most patients also develop some neurologic abnormalities. We describe an 11-year-old boy with triple A syndrome who presented with progressive axonal motor neuropathy. Molecular analysis revealed compound heterozygous mutations in the AAAS gene, confirming the clinical diagnosis. The clinical presentation of patients with triple A syndrome is variable. Our patient manifested neurologic problems during early childhood, before other features of this condition were apparent. We highlight the neurologic presentation of this multisystem disorder. In the presence of complex axonal neuropathy, other features of this condition should be sought. (C) 2011 Elsevier Inc. All rights reserved.