PDHA1基因突变致少年型Leigh综合征一例并文献复习

目的 探讨PDHA1基因突变所致Leigh综合征的临床特征。方法 报道南京医科大学附属儿童医院确诊的1例PDHA1基因突变所致少年型Leigh综合征的临床和遗传学资料,并复习相关文献。结果 患儿,男,8岁2月起病,第1次病程：发热后出现嗜睡,头颅MRI提示延髓及小脑齿状核长T1长T2信号,Flair高信号,诊断“病毒性脑炎”。治疗后复查头颅MRI提示延髓、右侧大脑脚及右侧基底节多个片状稍长T1稍长T2信号,Flair稍高信号。患儿症状好转出院,平时无明显症状。第2次病程：9岁10月,发热后出现头痛,头颅MRI提示双侧豆状核及大脑脚、脑干及小脑齿状核多发对称性长T1长T2信号,Flair及DWI高信号,乳酸5.0umol/l,基因检测提示PDHA1 c.427G＞A错义突变,诊断“Leigh综合征”,予维生素B1、左卡尼汀、辅酶Q10等治疗病情好转。结论 PDHA1基因突变所致Leigh综合征可在2岁后起病,平时可能无明显临床症状,动态复查头颅MRI并完善基因检测有助于诊断。

Report of A Case of Leigh Syndrome Caused by PDHA1 Mutation and Literature Review

Objective To investigate the clinical features of Leigh"s syndrome caused by mutation of PDHA1 gene. Method To report the clinical and genetic data of adolescent Leigh syndrome caused by mutation of PDHA1 gene in a patient diagnosed in Children"s Hospital of Nanjing Medical University, and to review related literatures. Results The patient, male, was hospitalized because of somnolence after fever at 8 years old and 2 months for the first time. Cranial MRI appeared long T1 long T2 signal and flair high signal in the medulla and cerebellum dentate nucleus. He was diagnosed "viral encephalitis". After treatment, the cranial MRI revealed multiple lamellae slightly longer T1 and slightly longer T2 signals in the medulla oblongata, right occipital peduncle and right basal ganglia, and slightly higher signal on Flair. His condition was improved and no any obvious symptoms after discharged. He was hospitalized again because of headache after fever at 9 years old and 10 months. Cranial MRI revealed multiple symmetry long T1 long T2 signals in bilateral lenticular nucleus and brain foot, brainstem and cerebellar dentate nucleus, high signal of Flair and DWI. Lactic acid increased to 5.0umol/l, genetic screening suggested that PDHA1 c.427G>A missense mutations. He was diagnosed "Leigh Syndrome" finally. After the treatment of vitamin B1, levocarnitine, coenzyme Q10, his condition was improved. Conclusions The onset of Leigh syndrome due to mutations in PDHA1 can start after 2 years of age. There may be no obvious clinical symptoms. Dynamic review of cranial MRI and gene sequencing conduce to diagnose.