PDF(Pubmed)
Abstract：
Heterozygous variants in the ATP1A3 gene are linked to well-known neurological phenotypes. There has been growing evidence for a separate phenotype associated with variants in residue Arg756-fever-induced paroxysmal weakness and encephalopathy (FIPWE) or relapsing encephalopathy with cerebellar ataxia (RECA). With only about 20 cases being reported, the clinical features associated with mutations at Arg756 have not been fully elucidated. We report a case of FIPWE with a p.Arg756Cys change in the ATP1A3 gene and a comparison of the clinical features, including electrophysiological examination, with previous cases. The 3-year-old male patient had normal psychomotor development, presenting with recurrent symptoms of generalized hypotonia with loss of gait, mutism, and dystonic movements only during febrile illnesses since 19 months of age. At 2.7 years of age, a third neurological decompensation episode occurred, during which electroencephalography (EEG) did not reveal high voltage slow waves or epileptiform discharge. Nerve conduction studies (NCS) also did not show latency delay or amplitude reduction. ATP1A3 exon sequencing showed a heterozygous p.Arg756Cys mutation. While the patient experienced repeated encephalopathy-like episodes, including severe hypotonia during febrile illness, EEG and NCS did not reveal any obvious abnormalities. These electrophysiological findings may represent an opportunity to suspect FIPWE and RECA.
摘要：
ATP1A3基因中的杂合变体与众所周知的神经表型相关。越来越多的证据表明，与残留Arg756发热引起的阵发性无力和脑病（FIPFE）或复发性脑病伴小脑共济失调（RECA）的变异相关的单独表型。报告只有大约20例，与Arg756突变相关的临床特征尚未完全阐明.我们报告了一例FiPwE，ATP1A3基因有p.Arg756Cys变化，并比较了临床特征，包括电生理检查，以前的案例。3岁男性患者精神运动发育正常,表现为伴有步态丧失的全身张力减退的反复症状，mutism,和肌张力障碍运动仅在19个月大的高热疾病期间。在2.7岁时，发生了第三次神经代偿失调,在此期间脑电图（EEG）未显示高电压慢波或癫痫样放电。神经传导研究（NCS）也没有显示潜伏期延迟或振幅降低。ATP1A3外显子测序显示p.Arg756Cys杂合突变。虽然患者经历了反复的脑病样发作，包括高热疾病期间严重的低张力,EEG和NCS没有发现任何明显的异常。这些电生理发现可能代表了怀疑FIPFE和RECA的机会。
