An Unusual Presentation of Wilson's Disease

被引:0
|
作者
Kanitkar, Shubhangi [1 ]
Borle, Akshata [1 ]
Ahlawat, Muskaan [1 ]
Ande, Sai Priya [1 ]
Raut, Sandesh [1 ]
机构
[1] Dr DY Patil Med Coll Hosp & Res Ctr, Internal Med, Pune, Maharashtra, India
关键词
cirrhosis; young child; copper metabolism; kayser fleischer ring; wilson disease; DIAGNOSIS;
D O I
10.7759/cureus.58407
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
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页数:8
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