Document Type
Case Report
Abstract
ABSTRACT
Wilson’s disease (WD) is a rare disorder of copper metabolism, caused by a mutation in the ATPB7 gene, resulting in a defect in copper elimination leading to its accumulation in various organs, with the liver being the most common. Here, we describe a case of a 19-year-old boy who presented with a history of hallucinations and status epilepticus. Initial investigations were normal, but due to a rising trend in alanine transaminase (ALT), a slit lamp examination was performed, revealing Kayser-Fleischer (KF) rings in the eyes. The patient was diagnosed with WD due to the presence of these KF rings and increased urinary copper excretion. Wilson’s disease should be suspected in cases where the first manifestation of symptoms is neurological without evidence of prior such symptoms and no evidence of other neurological disorders.
Recommended Citation
Athar, Iqra; Khattak, Neelma Naz; batool, Hania; Farah, Tehreem; Shifa, Tashfain; and Zayian, Zukhruf
(2024)
"Wilson’s Disease Presenting as Status Epilepticus: A Case Report,"
Pakistan Journal of Neurological Sciences (PJNS): Vol. 19:
Iss.
1, Article 5.
Available at:
https://ecommons.aku.edu/pjns/vol19/iss1/5
