A novel NOTCH3 mutation and its clinical, neuroimaging and pathological presentation in a Chinese patient with CADASIL: A case report

RATIONALE: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common form of familial cerebral small vessel disease in adults, and is caused by NOTCH3 mutations. However, individual symptom types, onset, and disease severity span a wide range. PATIENT CONCERNS: Herein, we report a case of chronic neurological symptoms including slurring of speech, recurrent weakness in both limbs and legs, and progressive memory loss. Cranial magnetic resonance imaging revealed recurrent acute lacunar subcortical infarction and extensive white matter hyperintensities. Skin biopsy revealed granular osmiophilic materials close to the cell surface of smooth muscle cells in an arteriolar vessel. The patient's genomic DNA showed a mutation c.635G>C[p.(Cys212Ser)] in exon 4. DIAGNOSIS: The patient was finally diagnosed with CADASIL. INTERVENTIONS: The patient was treated with antiplatelet therapy and extremity rehabilitation. OUTCOMES: There was no improvement in speech, extremity function, or memory. LESSONS: Accurate early diagnosis and appropriate treatment are crucial to improve the prognosis of patients with CADASIL.