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.

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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
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article

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

Ann-Laurence Delabie, Tanguy Demaret, Deniz Karadurmus, Vincenzo Pignato et al.
Case Reports in Neurology
Cerebrovascular and genetic disorders
article

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

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

Abstract

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.

Case Reports in Neurology
Good health and well-being
Openalex Percentile: Top 8%
Cerebrovascular and genetic disorders
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