Service d'Hépato-Gastroentérologie, Centre Hospitalier Universitaire de Reims, 51100, Reims, France.
Laboratoire de Biopathologie, Centre Hospitalier Universitaire de Reims, 51100, Reims, France.
Eur J Med Genet. 2022 Jan;65(1):104388. doi: 10.1016/j.ejmg.2021.104388. Epub 2021 Nov 9.
Cockayne syndrome (CS) is a rare autosomal recessive genetic disorder characterized by growth failure and progressive multisystem dysfunction caused by deficient nucleotide excision repair. Whereas metronidazole (MTZ) hepatotoxicity is quite rare in the general population, cases of severe hepatic reaction to MTZ have been reported in CS patients. We report here the case of a 21-year-old CS patient who presented with jaundice following one week of treatment with MTZ combined with spiramycin for dental care. This case is the first one documented with a liver biopsy. Histopathological analysis revealed portal and lobular inflammation with predominance of neutrophils, ballooning degeneration and severe cholestasis without bile duct damage. The outcome was marked by regression of jaundice over 6 weeks. Analysis of this case highlights the probable responsibility of MTZ and adds support to the recommendation to strictly avoid the prescription of this drug in CS patients.
科凯恩综合征(CS)是一种罕见的常染色体隐性遗传疾病,其特征是生长发育不良和核苷酸切除修复缺陷导致的进行性多系统功能障碍。虽然甲硝唑(MTZ)在普通人群中引起肝毒性的情况相当罕见,但已有 CS 患者对 MTZ 发生严重肝反应的报道。我们在此报告一例 21 岁 CS 患者,在接受 MTZ 联合螺旋霉素进行口腔护理治疗一周后出现黄疸。该病例是首例有肝活检记录的病例。组织病理学分析显示门脉和肝小叶炎症,中性粒细胞浸润为主,气球样变性和严重胆汁淤积,无胆管损伤。6 周后黄疸消退,病情明显好转。该病例分析强调了 MTZ 的可能责任,并支持了严格避免 CS 患者使用该药物的建议。