Ogasawara Masashi, Saito Takashi, Koshimizu Eriko, Akasaka Noriyuki, Sasaki Masayuki
Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
Department of Human Genetics, Yokohama City University, Yokohama, Japan.
Neuropediatrics. 2019 Dec;50(6):391-394. doi: 10.1055/s-0039-1694973. Epub 2019 Sep 4.
The complication of anarthria in hereditary spastic paraplegia (HSP) patients has been reported to result from mutations in either or . Here, we present a case of a 12-year-old boy with hereditary spastic paralysis and anarthria associated with a mutation. Initial presentation was at 14 months of age, when the patient experienced leg stiffness. At 3 years of age, he could speak well using sentences. At 9 years of age, he was found to have dysarthria and had difficulty writing. At 12 years of age, the ability to speak was lost. The patient could not vocalize any words, despite contraction of his neck and respiratory muscles during attempted vocalization. Additionally, the patient has never walked independently in his life. Considering these symptoms, we diagnosed him as having infantile onset ascending hereditary spastic paralysis (IAHSP) complicated with anarthria. By whole-exome sequencing, we discovered a heterozygous SPAST mutation c.1496G > A (p.Arg499His), which was not found in the parents and is probably de novo. This mutation was already repeatedly described with similar phenotype. Our results suggest that the p.Arg499His mutation in should be considered as a differential diagnosis in IAHSP.
遗传性痉挛性截瘫（HSP）患者的构音障碍并发症据报道是由 或 中的突变引起的。在此，我们报告一例12岁男孩，患有遗传性痉挛性麻痹和与 突变相关的构音障碍。最初表现为14个月大时，患者出现腿部僵硬。3岁时，他能用句子清晰地说话。9岁时，他被发现有构音障碍且书写困难。12岁时，他失去了说话能力。尽管在试图发声时颈部和呼吸肌收缩，但患者无法发出任何声音。此外，患者一生中从未独立行走。考虑到这些症状，我们诊断他患有婴儿期起病的上行性遗传性痉挛性麻痹（IAHSP）并伴有构音障碍。通过全外显子组测序，我们发现了一个杂合的SPAST突变c.1496G＞A（p.Arg499His），该突变在其父母中未发现，可能是新发突变。这种突变已经在类似表型中被多次描述。我们的结果表明， 中的p.Arg499His突变应被视为IAHSP鉴别诊断的一个因素。
