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 Q10 (CoQ10) deficiency type 4 was confirmed. After treatment with high dose of CoQ10,both patients showed significant symptom improvement. Primary CoQ10 deficiency type 4 caused by COQ8A mutations is clinically rare,but patients responds well to CoQ10 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.
维普
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