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

IF 0.4 Q4 CLINICAL NEUROLOGY

Case Reports in Neurology Pub Date : 2026-07-22 eCollection Date: 2026-01-01 DOI:10.1159/000553486

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

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引用次数: 0

Abstract

Introduction: 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.

Case presentation: 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.

Conclusion: 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.

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当偏瘫性偏头痛违背预期：罕见遗传疾病的诊断复杂性。

家族性偏瘫偏头痛（FHM）是一种罕见而复杂的先兆偏头痛遗传亚型，其特征是偏头痛具有可逆的运动先兆，并可能呈现广泛的神经系统症状，使诊断特别具有挑战性。病例介绍：我们报告一例FHM表现为长期偏瘫，严重头痛，意识改变和发烧。这些症状最初提示急性中风、脑炎或癫痫持续状态。精确的临床病史和有针对性的基因检测（CACNA1A、ATP1A2、SCN1A和PRRT2）证明对确定诊断至关重要。结论：该病例突出了FHM的广泛表型变异性和急诊误诊的风险。通过仔细的临床评估和适当的基因检测进行早期识别，可以进行适当的管理，避免不必要的干预。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Case Reports in Neurology Medicine-Neurology (clinical)

CiteScore

1.50

自引率

0.00%

发文量

审稿时长

14 weeks

期刊介绍： This new peer-reviewed online-only journal publishes original case reports covering the entire spectrum of neurology. Clinicians and researchers are given a tool to disseminate their personal experience to a wider public as well as to review interesting cases encountered by colleagues all over the world. To complement the contributions supplementary material is welcomed. The reports are searchable according to the key words supplied by the authors; it will thus be possible to search across the entire growing collection of case reports with universally used terms, further facilitating the retrieval of specific information. Following the open access principle, the entire contents can be retrieved at no charge, guaranteeing easy access to this valuable source of anecdotal information at all times.