When Hemiplegic Migraine Defies Expectations: Diagnostic Complexity in a Rare Genetic Disorder.

Authors

Amandine Goossens, Ann-Laurence Delabie, Tanguy Demaret, Deniz Karadurmus, Vincenzo Pignato

Published in

Case reports in neurology. Volume 18. Issue 1. Pages 514-520. Epub Jul 22, 2026.

Abstract

Familial hemiplegic migraine (FHM) is a rare and complex inherited subtype of migraine with aura, characterised by migraine with a reversible motor aura, and may present with a wide spectrum of neurological symptoms, making diagnosis particularly challenging.
We report a case of FHM presenting with prolonged hemiparesis, severe headache, altered consciousness, and fever. This constellation of symptoms initially suggested acute stroke, encephalitis, or status epilepticus. A precise clinical history and targeted genetic testing (CACNA1A, ATP1A2, SCN1A, and PRRT2) proved essential for establishing the diagnosis.
This case highlights the wide phenotypic variability of FHM and the risk of misdiagnosis in emergency settings. Early recognition through careful clinical assessment and appropriate genetic testing enabled appropriate management and avoided unnecessary interventions.

PMID:
42633474
Bibliographic data and abstract were imported from PubMed on 23 Aug 2026.

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