Case report When Hemiplegic Migraine Defies Expectations: Diagnostic Complexity in a Rare Genetic Disorder
This case describes a diagnostically challenging presentation of familial hemiplegic migraine, combining prolonged hemiparesis, severe headaches, altered consciousness and fever. Such a constellation initially suggested acute stroke, encephalitis, or status epilepticus. It underscores the wide phenotypic variability of familial hemiplegic migraine and the risk of misdiagnosis in emergency settings. A precise clinical history and targeted genetic testing (CACNA1A, ATP1A2, SCN1A and PRRT2) proved essential for identifying this rare condition. Early recognition enabled appropriate management and avoided unnecessary interventions.
Authors
- Ann-Laurence Delabie
- Tanguy Demaret (ORCID: https://orcid.org/0000-0001-7605-9031)
- Deniz Karadurmus (ORCID: https://orcid.org/0000-0001-8663-6357)
- Vincenzo Pignato
- Amandine Goossens
Publication Details
- Journal
- Case Reports in Neurology
- Published
- 2026-07-22
- DOI
- https://doi.org/10.1159/000553486
- Primary Topic
- Cerebrovascular and genetic disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00