Kulikova S L, Likhachev S A, Kashyna A R
Republican Research and Clinical Center of Neurology and Neurosurgery, Minsk, Belarus.
City Children's Clinical Polyclinic, Minsk, Belarus.
Zh Nevrol Psikhiatr Im S S Korsakova. 2020;120(3):72-76. doi: 10.17116/jnevro202012003172.
Alternating hemiplegia, a rare neurological disease that manifests in children under the age of 18 months, is characterized by transient episodes of hemiparesis of an alternating nature in the waking period. In addition to transient hemiparesis, neurological symptoms in the form of choreoathetosis, ataxia, dystonia, autonomic dysfunction, ocular apraxia, nystagmus, seizures, dysarthria and intellectual disorders may develop. Mutation in the ATP1A3 gene is the cause of the disease in more than 75% of patients. In some cases, the use of flunarizine, adenosine triphosphate and a ketogenic diet can reduce the frequency and duration of hemiplegic attacks. The authors report a case of a patient with alternating hemiplegia caused by a heterozygous mutation in exon 8 of the ATP1A3 gene (chr19: 42489098A>T, rs606231428), resulting in an amino acid substitution at position 335 (p.Val335Asp, NM_001256214.1). The use of flunarizin in a dose of 5 mg/day significantly reduces the number and duration of seizures, while oral adenosine-5-triphosphoric acid in a dose of 20 mg/kg/day is not effective.
交替性偏瘫是一种罕见的神经系统疾病,多见于18个月以下的儿童,其特征是在清醒期出现交替性偏瘫的短暂发作。除短暂性偏瘫外,还可能出现舞蹈手足徐动症、共济失调、肌张力障碍、自主神经功能障碍、眼球失用症、眼球震颤、癫痫、构音障碍和智力障碍等神经症状。超过75%的患者病因是ATP1A3基因突变。在某些情况下,使用氟桂利嗪、三磷酸腺苷和生酮饮食可减少偏瘫发作的频率和持续时间。作者报告了一例由ATP1A3基因第8外显子杂合突变(chr19: 42489098A>T,rs606231428)导致的交替性偏瘫患者,该突变导致第335位氨基酸替换(p.Val335Asp,NM_001256214.1)。每天5毫克剂量的氟桂利嗪可显著减少癫痫发作的次数和持续时间,而每天20毫克/千克剂量的口服三磷酸腺苷则无效。