Case Series
Year: 2020 | Month: April-June | Volume: 5 | Issue: 2 | Pages: 164-168
Wilson’s Disease, A Screening Necessity among Siblings: A Case Series Reported from Northern India
Anju Bala1, Vipan Garg2, Mohit Bajaj3, Parul Bhardwaj4
1Junior Resident Pediatrics, DRPGMC Kangra at Tanda (HP)
2In-charge Anesthesiology and Intensive Care Unit, Regional Hospital Bilaspur (HP)
3Senior Resident Pediatrics, DRPGMC Kangra at Tanda (HP)
4Junior Resident Medicine, DRPGMC Kangra at Tanda (HP)
Corresponding Author: Vipan Garg
ABSTRACT
Wilson disease is a rare genetic condition causing pathologic deposition of copper in the liver, brain, cornea, kidney, and cardiac muscles. Here we present a series of cases among siblings with different presentation of symptoms among them. These symptoms varied among siblings from asymptomatic with laboratory finding of Wilson’s disease to involving liver, neurological squeal to even death. These presentations can be taken as different phenotypic expression of same genetic mutation among siblings. Hence, screening of siblings is most important among diagnosed cases of Wilson’s disease.
Keywords: Wilson’s disease, Siblings, K-F rings, Ceruloplasmin