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This case report presents a 44-year-old female, Ayşe, who exhibited chronic migraines that progressively evolved into near-daily headaches. Her migraines, characterized by severe aura symptoms including visual disturbances and sensory changes, were unresponsive to conventional therapies. Alongside her headaches, Ayşe experienced cognitive decline, gait disturbances, and speech difficulties. Electroencephalography (EEG) findings indicated diffuse encephalopathy and temporal epileptiform discharges, suggesting increased cortical irritability. Magnetic resonance imaging (MRI) scans revealed characteristic white matter hyperintensities, and genetic testing confirmed a pathogenic NOTCH3 mutation, diagnosing Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL). The case underscores the importance of considering CADASIL in patients with persistent migraines resistant to treatment, particularly when associated with cognitive and motor symptoms. Early diagnosis, supported by neuroimaging, EEG, and genetic testing, is crucial for effective management. This report emphasizes the need for a multidisciplinary approach in treating CADASIL, highlighting its complex relationship with migraine and the potential for progressive neurological impairment.

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Cerebral Autosomal Dominant Arteriopathy and Subcortical Infarcts Leukoencephalopathy (CADASIL) Attributed Headache

  • 章节

  • 发表日期：

    2026年

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  • Utku Topbaş,
  • Nevra Öksüz,
  • Aynur Özge

摘要

This case report presents a 44-year-old female, Ayşe, who exhibited chronic migraines that progressively evolved into near-daily headaches. Her migraines, characterized by severe aura symptoms including visual disturbances and sensory changes, were unresponsive to conventional therapies. Alongside her headaches, Ayşe experienced cognitive decline, gait disturbances, and speech difficulties. Electroencephalography (EEG) findings indicated diffuse encephalopathy and temporal epileptiform discharges, suggesting increased cortical irritability. Magnetic resonance imaging (MRI) scans revealed characteristic white matter hyperintensities, and genetic testing confirmed a pathogenic NOTCH3 mutation, diagnosing Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL). The case underscores the importance of considering CADASIL in patients with persistent migraines resistant to treatment, particularly when associated with cognitive and motor symptoms. Early diagnosis, supported by neuroimaging, EEG, and genetic testing, is crucial for effective management. This report emphasizes the need for a multidisciplinary approach in treating CADASIL, highlighting its complex relationship with migraine and the potential for progressive neurological impairment.