山东大学学报 (医学版) ›› 2022, Vol. 60 ›› Issue (4): 123-127.doi: 10.6040/j.issn.1671-7554.0.2021.1474
• • 上一篇
任红,王伟,林岩,娄建伟,纪坤乾,赵玉英,焉传祝
REN Hong, WANG Wei, LIN Yan, LOU Jianwei, JI Kunqian, ZHAO Yuying, YAN Chuanzhu
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。
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