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External Capsular Hyperintensities in Wilson's Disease Presenting with Refractory Status Epilepticus
Tandon Ruchika1, Mittal Madhukar2, K Goyal Abhishek1
1Department of Medicine, King George's Medical University, Lucknow, Uttar Pradesh, India.
Neurology India
|December 20, 2022
Summary
Wilson's disease, a genetic copper accumulation disorder, rarely presents as refractory status epilepticus in adolescents. This case highlights subtle MRI findings and elevated urinary copper as key diagnostic clues.
Area of Science:
- Neurology
- Genetics
- Biochemistry
Background:
- Wilson's disease is an inherited disorder of copper metabolism, leading to toxic accumulation in organs like the brain and liver.
- Neuropsychiatric symptoms are common, but status epilepticus is an exceptionally rare manifestation.
Observation:
- A case study of an adolescent presenting with refractory convulsive status epilepticus.
- Brain MRI revealed external capsular hyperintensities, with minimal changes elsewhere.
- Mildly abnormal liver function tests were the initial indicator.
Findings:
- The patient was diagnosed with Wilson's disease based on elevated 24-hour urinary copper levels.
- Refractory status epilepticus was the presenting neurological emergency.
Implications:
- This case underscores the importance of considering Wilson's disease in adolescents with unexplained status epilepticus, even with subtle initial findings.
- Highlights the diagnostic utility of urinary copper levels in atypical presentations.
- Emphasizes the need for comprehensive metabolic workup in neurological emergencies.
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