Department of Clinical Genetics, Nottingham City Hospital, Nottingham, United Kingdom.
Pediatr Neurol. 2011 Nov;45(5):347-9. doi: 10.1016/j.pediatrneurol.2011.07.003.
"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.
"Triple A" 综合征是一种罕见的常染色体隐性遗传病，其主要临床特征为眼干、食管失弛缓症和肾上腺功能衰竭。大多数患者还会出现一些神经系统异常。我们描述了一例 11 岁的 "Triple A" 综合征患儿，其表现为进行性轴索性运动神经病。分子分析显示 AAAS 基因存在复合杂合突变，证实了临床诊断。"Triple A" 综合征患者的临床表现存在差异。我们的患者在这种疾病的其他特征出现之前，在儿童早期就表现出神经系统问题。我们强调了这种多系统疾病的神经系统表现。在存在复杂轴索性神经病的情况下，应寻找该病的其他特征。
