6.8.1 Headache attributed to cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

Identification: Female patient, 32 years old, with no significant previous comorbidities, with a family history of strokes on the paternal side.

Chief Complaint: Episodic headache for about 3 years, associated with visual symptoms and transient paresthesias.

History of Present Illness: The patient reports pulsatile headache attacks, predominantly unilateral, associated with positive visual phenomena (scintillating scotomas) and transient paresthesias in the upper limbs. The episodes last from 30 minutes to 2 hours and are followed by moderate to severe headache, accompanied by photophobia and phonophobia. The attacks occur monthly, with no identifiable triggering factors.

In recent months, she reports that the headache has decreased in frequency, but she has developed symptoms of slowed thinking and depressive episodes.

Family History: Father and paternal aunt with a history of stroke before the age of 60, both without known vascular risk factors.

Neurological Examination: No evident motor deficits, but with slowing in performing simple cognitive tests.

Complementary Exams:

Cranial Magnetic Resonance Imaging (MRI): multiple hyperintensities in the white matter, especially in the periventricular region and anterior temporal lobes.
Genetic test: confirmed mutation of the NOTCH3 gene.