Triple A syndrome presenting as complicated hereditary spastic paraplegia.
Triple A syndrome presenting as complicated hereditary spastic paraplegia.
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DOI：
10.1002/mgg3.492
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发表时间：
2018-11
影响因子：
2
通讯作者：
Gan-Or Z
中科院分区：
文献类型：
--
作者：
Leveille E;Gonorazky HD;Rioux MF;Hazrati LN;Ruskey JA;Carnevale A;Spiegelman D;Dionne-Laporte A;Rouleau GA;Yoon G;Gan-Or Z
遗传性痉挛性截瘫是一组以痉挛性下肢轻瘫等为特征的罕见疾病。通常，其他疾病可以模仿HSP，这可能会延迟诊断和治疗。在临床疑似HSP但未进行基因诊断的家系中进行全外显子组测序。我们报告三位来自两个家族的病人，他们都有下肢痉挛、肌肉萎缩和其他神经系统症状，临床上被诊断为复杂性过敏性紫癜。全外显子组测序显示双等位基因AAAS无义突变;一个个体为p纯合子。（Arg 478 *）突变，两个兄弟姐妹是纯合子的p。（Arg 286 *）突变，导致诊断为三A综合征。这种罕见的综合征的典型特征是三联征：贲门失弛缓症，肾上腺功能不全，和无泪症，并经常伴有其他神经系统异常。我们的研究结果表明，在没有已知遗传原因的复杂HSP患者中应怀疑三联A综合征，特别是如果至少存在三联A综合征的主要症状之一。
Hereditary spastic paraplegia (HSP) is a group of rare disorders characterized by spastic paraparesis and other symptoms. Often, other diseases can mimic HSP, which may delay diagnosis and treatment. Whole exome sequencing was performed in families with clinically suspected HSP without a genetic diagnosis. We report three patients from two families who presented with lower limb spasticity, muscular atrophy, and other neurological symptoms, who were clinically diagnosed with complicated HSP. Whole exome sequencing revealed bi‐allelic AAAS nonsense mutations; one individual was homozygous for the p.(Arg478*) mutation, and two siblings were homozygous for the p.(Arg286*) mutation, leading to the diagnosis of triple A syndrome. This rare syndrome is typically characterized by a triad of symptoms: achalasia, adrenal insufficiency, and alacrima, and is often accompanied by other neurological abnormalities. Our findings suggest that triple A syndrome should be suspected in complicated HSP patients without a known genetic cause, especially if at least one of the main triad of triple A syndrome symptoms is present.
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