An Unusual Presentation of Wilson's Disease

威尔逊氏病的罕见表现

阅读:1

Abstract

Wilson's disease affects the metabolism of copper and is a rare hereditary disorder that is inherited autosomally recessively. The liver and brain are the main organs affected by this disorder, which causes progressive hepatolenticular degeneration. A 15-year-old male patient arrived at the outpatient department (OPD) with mild abdominal pain on the right side, and both eyes showed Kayser-Fleischer (KF) rings. An abdominal ultrasound showed that the spleen was enlarged. Copper levels in urine were found to be higher. After a liver biopsy, cirrhosis, and mild chronic active hepatitis were found. The majority of hematological indicators were normal; however, a peripheral blood smear revealed mild thrombocytopenia. Wilson's disease is uncommon, so diagnosing it requires a high degree of suspicion. In circumstances of inexplicable liver cirrhosis or isolated neurological symptoms, it could go unnoticed. The only primary complaint in the case being presented was abdominal pain. However, the age upon presentation, the existence of KF rings in both eyes, and other tests helped us get the diagnosis.

特别声明

1、本页面内容包含部分的内容是基于公开信息的合理引用;引用内容仅为补充信息,不代表本站立场。

2、若认为本页面引用内容涉及侵权,请及时与本站联系,我们将第一时间处理。

3、其他媒体/个人如需使用本页面原创内容,需注明“来源:[生知库]”并获得授权;使用引用内容的,需自行联系原作者获得许可。

4、投稿及合作请联系:info@biocloudy.com。