A 52-year-old woman was admitted to Affiliated Hospital of Weifang Medical University’s Department of Neurology in June 2023 for “sudden speech impairment with left limb dysfunction for two days and aggravation for a day“. Past history: Recurrent dizziness started 30 years ago, Disc herniation surgery two weeks ago. Family background: Her mother died at the age of 70 after a cerebral infarction, her younger brother has leukemia, and her father, younger sister, husband, and two daughters are in good health. Physical examination of the nervous system: The patient had clear consciousness, motor aphasia, left central facial paralysis, left limb muscle strength of 4. Diagnosis procedures: At the time of admission, a cranial magnetic resonance imaging (MRI) revealed multiple fresh cerebral infarctions in bilateral subcortical regions. The patient had a low fever during hospitalization. The diagnosis of CADASIL was confirmed by relevant testing and examinations to rule out immune, infectious, tumor, genetic, and metabolic causes. Inspection of laboratory indexes: electrolytes, liver function, kidney function, blood glucose, urine routine, myocardial enzyme spectrum, blood homocysteine, procalcitonin, IL-2 + IL-4 + IL-10 +IFN-γ+TNF-α, blood culture, two items of rheumatism, three items of antiphospholipid antibodies, preoperative infection indicators, antinuclear antibody spectrum, antivasculitis antibody spectrum, CA125, HE4, CEA, AFP, CA19-9 did not reveal any significant abnormalities. The blood routine + CRP + SAA (upon admission): CRP 43.85 mg/L, WBC 15.87 10^9/L, neutrophil percentage 86.8%, hemoglobin 113 g/L, platelet count 410 10^9/L, SAA 198.01 mg/L. Fibrinogen 6.93 g/L, D-dimer 0.89 mg/L,Triglycerides 2.85mmol/L, IL-6 15.36pg/ml.Auxiliary examination: CT angiography (Fig.
1g), TCD foam test, cardiac color ultrasound, bilateral lower limb vein color ultrasound, 24-hour dynamic electrocardiogram, dynamic electroencephalogram, and chest CT revealed no significant abnormal images. CADASIL scores 13 points, MMSE scores 28 points, and Moca scores 27 points. Head MRI/DWI/SWI: 1. Multiple fresh cerebral infarctions in bilateral frontal lobes, bilateral paraventricular trigones, bilateral radiating coronal areas, and bilateral corpus callosum knees (Fig.
1a, b, e, f); 2. Multiple lacunar cerebral infarctions with partial softening over bilateral frontal, parietal, and temporal lobes, coronal radiation, basal ganglia, and left cerebellum; White matter demyelination around bilateral ventricles (Fig.
1c, d); 3. SWI: normal (Fig.
1h). Genetic analysis: NOTCH3 gene mutation in proband (Fig.
2a) and two daughters (Fig.
2b, c): c.1451 G > A (p. Cys484Tyr).Upon admission to the hospital, the patient received aspirin, statins, and treatments for circulation, nutrition, and nerves.Following discharge from the hospital, the patient’s symptoms disappeared.We followed up with the patients three and six months after discharge, and there were no other symptoms except occasional episodic dizziness.