Wilson's Disease presenting as status epilepticus: a case report

  • Iqra Athar Pakistan Air Force Hospital, Islamabad
  • Neelma Naz Khattak Pakistan Institute of Medical Sciences, Islamabad
  • Hania Batool Pakistan Institute of Medical Sciences, Islamabad
  • Tehreem Farah Pakistan Institute of Medical Sciences, Islamabad
  • Tashfain Shifa Pakistan Air Force Hospital, Islamabad
  • Zukhruf Zayian Pakistan Air Force Hospital, Islamabad
Keywords: Wilson's disease, Status epilepticus, Keyser-Fleischer ring

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.

Author Biographies

Iqra Athar, Pakistan Air Force Hospital, Islamabad

Consultant Neurology, Department of neurollgy PAF Islamabad

Neelma Naz Khattak, Pakistan Institute of Medical Sciences, Islamabad

Consultant Neurology, Neurology Department PIMS Islamabad.

Published
2024-07-28