Lack of Efficacy
Lack of Efficacy
复制标题
缺乏功效
DOI：
10.32388/z1srh8
复制
发表时间：
2020
期刊：
影响因子：
--
通讯作者：
H. Coetzee
中科院分区：
文献类型：
--
作者：
H. Coetzee
缺乏功效：病例报告一名大约12个月大的印度男孩在接受左乙拉西坦、丙戊酸和唑尼沙胺治疗婴儿型癫痫性脑病（非结构性韦斯特综合征）时表现出缺乏疗效。该男孩在7个月大时出现2周屈肌痉挛（婴儿痉挛）病史。他在7个月龄之前具有正常的发育里程碑;然而，在过去2周内观察到先前达到的里程碑（神经退行）丢失。他的血压过低。根据调查，他被诊断为婴儿发作性癫痫性脑病（非结构性韦斯特综合征）。此后，多基因癫痫组的外显子组测序表明ATP 6V 1A突变c.416A>G（p.Lys139Arg）。患者接受促肾上腺皮质激素治疗，痉挛停止。然而，婴儿痉挛症在5个月后再次出现。因此，患者接受左乙拉西坦、唑尼沙胺和丙戊酸治疗[未说明剂量和途径]。虽然他的癫痫发作频率下降了> 50%，但他继续出现屈肌痉挛（婴儿痉挛）。因此，认为该疾病对这些药物难治（缺乏疗效）。后来，EEG显示症状消退，伴缓慢背景和多灶性癫痫样放电。1年后随访时发现他的发育商<70。
Lack of efficacy: case report An approximately 12-month-old Indian boy exhibited lack of efficacy while being treated with levetiracetam, valproic acid and zonisamide for infantile onset epileptic encephalopathy (nonstructural West’s syndrome). The boy presented with a 2-week history of flexor spasms (infantile spasms) at the age of 7 months. He had a normal developmental milestones until 7 months of age; however, a loss of previously attained milestones (neuroregression) was noted in the last 2 weeks. He was hypotonic. Based on investigations, he was diagnosed with infantile onset epileptic encephalopathy (nonstructural West’s syndrome). Thereafter, exome sequencing of a multigene epilepsy panel indicated a ATP6V1A mutation c.416A>G (p.Lys139Arg). He received adrenocorticotropic hormone with cessation of spasms. However, the infantile spasms reappeared 5 months later. Therefore, he was treated with levetiracetam, zonisamide and valproic acid [dosages and routes not stated]. Although, his seizure frequency decreased by >50%, he continued to experience flexor spasms (infantile spasms) in clusters. The disease was thus considered to be refractory to these medications (lack of efficacy). Later, an EEG showed resolution of symptoms with slow background and multifocal epileptiform discharges. His development quotient was found to be <70 at a follow-up 1 year later.