Grönlund Juhani, Näntö-Salonen Kirsti, Venetoklis Jaana, Holmberg Raija-Leena, Heinonen Arja, Ståhlberg Marja-Riitta
Department of Paediatrics, University Hospital of Turku, Turku, Finland.
Scand J Gastroenterol. 2006 Mar;41(3):361-4. doi: 10.1080/00365520510023431.
An 8-year-old boy was referred to our hospital because of learning disabilities. His general cognitive functions were below the level for age, and he was diagnosed with dysphasia. The boy was transferred to a special class for children with learning problems. Three months later he was again referred to us because of acute epigastric pain. The only abnormal laboratory finding was a slightly elevated level of alanine aminotransferase. Although the symptoms disappeared in a few days, the transaminase levels remained above normal for the next 6 months. Further diagnostic work-up revealed low serum ceruloplasmin concentration and high 24-h urinary copper excretion. The hepatic copper concentration in liver biopsy was high (2900 microg/g dry weight), confirming the diagnosis of Wilson's disease. Brain MRI showed slight changes in white matter. The patient's asymptomatic sister was also diagnosed with Wilson's disease. Both siblings started penicillamine therapy and a copper-restricted diet. The copper content of the household water was found to be above average and a new plumbing system was installed. After 1 year from the initiation of the therapy, the transaminase concentrations normalized and both siblings were free of symptoms. After 2 years of therapy the patient was able to return to normal school. Wilson's disease must be borne in mind, when children are evaluated because of poor school performance, especially if they complain of abdominal symptoms.
一名8岁男孩因学习障碍被转诊至我院。他的一般认知功能低于同龄人水平，被诊断为语言发育障碍。该男孩被转到一个针对有学习问题儿童的特殊班级。三个月后，他因急性上腹部疼痛再次被转诊至我院。唯一异常的实验室检查结果是丙氨酸转氨酶水平略有升高。尽管症状在几天内消失，但转氨酶水平在接下来的6个月里一直高于正常范围。进一步的诊断检查发现血清铜蓝蛋白浓度低，24小时尿铜排泄量高。肝活检显示肝铜浓度高（2900微克/克干重），确诊为威尔逊病。脑部磁共振成像显示白质有轻微变化。该患者无症状的妹妹也被诊断为威尔逊病。两兄妹均开始接受青霉胺治疗并采用低铜饮食。发现家庭用水中的铜含量高于平均水平，并安装了新的管道系统。治疗开始1年后，转氨酶浓度恢复正常，两兄妹均无症状。治疗2年后，该患者能够重返正常学校。当对因学习成绩差而接受评估的儿童进行评估时，尤其是如果他们诉说腹部症状，必须考虑到威尔逊病。
