Acute confusional migraine in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy patient

Abstract

Introduction: Cerebral autosomal dominant arteriopa-thy with subcortical infarcts and leukoencephalopathy(CADASIL) is a monogenic disorder of the cerebral small arteries caused by mutations in the NOTCH3 gene on chromosome 19, which is involved in cell signaling and differentiation. Acute confusional migraine was rarely reported clinical manifestation of CADASIL. Also, first clinical manifestion was that symptom was quite rare especially in old age.

Objectives: A 70-year-old man presented with severe headache, confusion and fever after the pneumococcal vaccination 2 days ago. He complained severe headache which he did not experienced before. On admission day,he became drowsy and confused which progressed over hours. On examination, the patient was hypertensive,drowsy and disoriented. His neurologic deficits were remarkable for receptive aphasia, intermittent expressive aphasia, and hyperreflexia with bilateral extensor plantar responses. No meningismus was noted.

Methods: On brain magnetic resonance imaging (MRI),extensive patchy-like high-signal intensity lesion throughout the white matter of both cerebral hemispheres on fluid-attenuated inversion recovery (FLAIR) images and no significant acute ischemic lesions were seen on diffusion-weighted imaging (DWI). Multifocal luminal narrowing on intracranial arteries was seen on brain computed tomography angiography (CTA). On hospital day 2, the neurologic deficit was more aggravated for right-sided weakness (MRC grade 3) and global aphasia. He slowly recovered over 10 days after treated with calcium channel blocker based on suspicion of cerebral vasoconstriction syndrome. He was regularly followed after discharge without any neurological deficit, but complained with headache of mild to moderate degree. Two years later, he readmitted with the second episode of severe headache and aphasia developed 3 hours ago. On examination, global aphasia was revealed without any weakness. After intravenous thrombolysis, the neurological deficits were not improved. The CTA revealed that multifocal stenosis on cerebral arteries which was also seen 2 year ago. Repeat MRI scan showed extensive white matter disease. Also, some focal infarctions in left precentral gyrus and left cerebellum.

Results: Genotyping demonstrated the C1630T(Arg544Cys) mutation. Even though treated with AED, partial seizure involving right face were repeatedly occurred. He discharged with AED with aphasia. He regularly followed after discharge with some neurological deficits.

Conclusion: We report the old CADASIL patient who presented repeated episode of encephalopathy, severe headache which might be diagnosed as acute confusional migraine or CADASIL coma in Korea.