Case 418 · ICHD-3 6.8.1
6.8.1 Headache attributed to cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
- Origin
- Synthetic
- Language
- English — also available in German
- Contributed by
- Imported case — HeadAI synthetic vignettes (de Andrade JBC, da Silva Costa TB, Vasconcelos JL, Lopes TLM, Balsells MD, Cristofolini VL, Querobin SO, Filho FMR. Validation of an AI-based platform for structured diagnosis of headache disorders using ICHD-3 criteria. BMC Neurology 25, 489 (2025). doi:10.1186/s12883-025-04473-1. Dataset: Andrade J. Head.AI Platform. Mendeley Data, V2 (2025). doi:10.17632/4fms6cw2s5.2)
Anamnesis
Identification: Sex/Age: Male, 38 years
History:
Family history of early-onset dementia (mother deceased at 50 years due to recurrent stroke)
Migraine with aura since age 25
No hypertension, diabetes, or dyslipidemia
History of Present Illness (HPI):
Main symptom: Severe headache for 2 days
Characteristics:
Location: Holocranial
Type: Pulsatile
Intensity: 8/10
Duration: Persistent for 48 hours
Associated symptoms:
Visual aura (scintillating scotomas)
Paresthesias in upper limbs
Mild dysphasia
Physical/Neurological Examination:
Mental status: Mild confusion
Neurological:
Mild pyramidal signs (brisk reflexes in lower limbs)
No focal motor deficit
Cognitive function: Difficulty concentrating
Complementary Exams:
Brain MRI: Bilateral diffuse leukoencephalopathy, lacunar infarcts in thalamus and basal ganglia
Genetics: Pathogenic mutation in the NOTCH3 gene (c.397C>T)
Report this case — e.g. suspected re-identification risk.