Silva Francisco, Nobre Susana, Campos António P, Vasconcelos Mónica, Gonçalves Isabel
Department of Paediatric Gastroenterology and Hepatology, Hospital Pediátrico de Coimbra, Coimbra, Portugal.
BMJ Case Rep. 2011 Aug 4;2011:bcr0520114249. doi: 10.1136/bcr.05.2011.4249.
An 11-year-old boy was treated since 6-years-old with methylphenidate for combined attention deficit and hyperactivity disorder. At age nine his behaviour had worsened and he started to have phobias. One year later persistent hypertransaminasemia was found. Physical examination showed a dysdiadocokinesia. Laboratory investigation revealed a low caeruloplasmin and augmented basal urinary copper with a positive postpenicillamine test. Liver biopsy showed high liver copper (853 µg/g) and brain MRI was normal. D-penicillamine and zinc acetate were started without side effects. ATP7B gene mutation was confirmed after treatment initiation.
一名11岁男孩自6岁起就因注意力缺陷多动障碍联合使用哌甲酯进行治疗。9岁时，他的行为恶化，开始出现恐惧症。一年后，发现持续性高转氨酶血症。体格检查显示轮替运动障碍。实验室检查发现血浆铜蓝蛋白水平低，基础尿铜增加，青霉胺试验呈阳性。肝脏活检显示肝脏铜含量高（853μg/g），脑部磁共振成像正常。开始使用青霉胺和醋酸锌治疗，未出现副作用。开始治疗后，ATP7B基因突变得到证实。
