Early Psychiatric Manifestations of Lafora Disease: A Case Report.
Early psychiatric symptoms can signal Lafora disease before seizures appear, enabling earlier diagnosis and family genetic counseling.
This case report describes early psychiatric manifestations (behavioral changes, psychosis) preceding classic seizures in a Lafora disease patient, a fatal progressive myoclonic epilepsy caused by glycogen storage abnormalities. The case highlights diagnostic opportunities in a rare disease where early recognition can facilitate genetic counseling and family screening.
What the study was
- Study design
- Case report
- Population
- Patient with Lafora disease presenting with early psychiatric manifestations
- Sample size
- 1
- Category
- Diagnostics
- Maturity
- Exploratory
- Journal
- Cureus
Why it surfaced
Lafora disease is a fatal rare progressive epilepsy with no curative treatment. Early psychiatric presentation is underrecognized. Exception rule applied: case report included for rare disease watchlist signal. PMC full text available.
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