COQ8A基因复合杂合突变致肌张力障碍二例并文献复习

Compound heterozygous mutations in the COQ8A gene leading to dystonia:two cases reports and literature review

2例以躯干肌肉阵发性抽动伴不自主抖动的男性患者分别于2021年6月和2023年10月于我院就诊。查体均可见脊柱侧弯、腹部及躯干部肌肉不自主抖动,1例患者有小脑共济失调体征。脊柱X线检查提示2例患者均存在脊柱侧弯,头颅MRI提示1例存在小脑萎缩。外显子测序2例均发现COQ8A基因复合杂合突变,结合临床表现、全外显子测序及家系验证,确诊为原发性辅酶Q_(10)(CoQ_(10))缺乏症4型。给予大剂量CoQ_(10)治疗后,症状均有明显改善。COQ8A突变引起的原发性CoQ_(10)缺乏症4型患者临床罕见,但对CoQ_(10)治疗反应良好,及早诊断及治疗有助于改善患者的预后。因此,对2例患者的临床诊治过程结合相关文献进行报道,旨在提高临床医师对该病的认识。

Two male patients presented at our hospital in June 2021 and October 2023 with paroxysmal twitching of trunk muscle accompanied by involuntary tremors.Both patients exhibited scoliosis and involuntary muscle tremors in the abdomen and trunk,with one patient also showing signs of cerebellar ataxia.Spinal X-ray examination indicated scoliosis in both patients,and cranial MRI indicated cerebellar atrophy in one patient.Exome sequencing identified compound heterozygous mutations in the COQ8A gene in both cases.Combined with clinical manifestations,whole-exome sequencing,and family validation,a diagnosis of primary coenzyme Q_(10)(CoQ_(10))deficiency type 4 was confirmed.After treatment with high dose of CoQ_(10),both patients showed significant symptom improvement.Primary CoQ_(10) deficiency type 4 caused by COQ8A mutations is clinically rare,but patients responds well to CoQ_(10) treatment.Early diagnosis and treatment can improve patient outcomes.Therefore,the authors of this report discusse the clinical diagnosis and treatment process of these two patients in conjunction with relevant literature,aiming to raise awareness among clinicians about this condition.