科研速览 · Science Skim继续刷下去 · Keep skimming →
◆ Case reports in neurology2026-01-01

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

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

一句话结论 · In one sentence

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.

原始摘要(英文原文)· Original 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.
读原文 · Read the paper ↗

AI 追问PRO

登录后使用 AI 追问

讨论区

登录后参与讨论

相关论文 · Related

When Hemiplegic Migraine Defies Expectations: Diagnostic Complexity in a Rare Genetic Disorder. — 科研速览 Science Skim