Barth综合征1例报道

doi:10.6040/j.issn.1671-7554.0.2021.1474

摘要/Abstract

摘要： 目的对1例TAZ基因突变的Barth综合征(BTHS)患者进行临床表现、影像学特征、肌肉病理、基因测序分析,以提高临床医生对此病的认识。方法收集1例BTHS患者的临床及实验室资料进行分析,并通过复习相关文献对疾病进行简要总结。结果患者为14岁男性,自幼生长发育迟缓,因四肢无力2个月余入院,查体示双侧转颈、耸肩力弱及四肢肌力减弱。血常规示中性粒细胞计数减少;尿有机酸检测示3-甲基戊烯二酸升高。影像学检查示双侧臀大肌及双侧胫骨干骺端周围肌肉FS T₂WI异常信号。肌肉病理示轻度肌源性损害。基因检测证实患者及其母亲为TAZ基因c.589G>A突变。结论 Barth综合征是一种具有临床和遗传异质性的疾病,其发病形式多样。当患者出现不明原因的中性粒细胞减少或心肌病变等表现,应考虑该病可能。早期诊断和对症支持治疗可提高患者的生存质量。

关键词: Barth综合征, TAZ基因, 突变, 心磷脂

Abstract: Objective To investigate the clinical manifestations, imaging features, muscle pathology and genetic analysis of a patient presenting Barth syndrome(BTHS)with TAZ gene mutation, so as to improve clinician’s understanding of the disease. Methods Clinical and laboratory data of a patient with BTHS were collected and analyzed, and relevant literature was reviewed. Results The patient was a 14-year-old boy presenting with growth retardation since childhood. He was admitted to our hospital due to weakness of limbs for more than two months. Physical examination showed bilateral weakness in trapezius, sternocleidomastoid muscles and limbs. Blood routine examination indicated a decrease in neutrophil count. Urine organic acid analysis revealed elevated 3-methylglutaconicaciduria. Muscle MRI showed abnormal signals on FS T₂WI(fat suppression T₂ weighted imaging)in both gluteus maximus muscles and muscles around the tibial epiphysis. Muscle pathology showed mild myogenic lesion. Genetic analysis confirmed that the patient and his mother carried mutation c.589G>A in the TAZ gene. Conclusion Barth syndrome is a clinically and genetically heterogeneous disorder with various onset forms. When patients present with inexplicable decreased neutrophils or myocardial involvement, BTHS should be considered. Early diagnosis, symptomatic treatment and supportive care can improve the quality of life for patients.

Key words: Barth syndrome, TAZ gene, Mutation, Cardiolipin

中图分类号:

R746.9

任红,王伟,林岩,娄建伟,纪坤乾,赵玉英,焉传祝. Barth综合征1例报道[J]. 山东大学学报 (医学版), 2022, 60(4): 123-127.

REN Hong, WANG Wei, LIN Yan, LOU Jianwei, JI Kunqian, ZHAO Yuying, YAN Chuanzhu. A case report of Barth syndrome[J]. Journal of Shandong University (Health Sciences), 2022, 60(4): 123-127.

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