A large number of cerebral microbleeds in CADASIL patient presented with recurrent seizures: A case report

Abstract

Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary arteriopathy associated with NOTCH3 gene. Clinical manifestations include strokes, transient ischemic events, psychiatric disturbances, dementia, as well as migraines. We report a case of a Thai man with severe phenotype of CADASIL presenting with recurrent seizures and acute ischemic stroke in whom classic vascular risk factors are also present. Case presentation A 50 year-old-man who has had history of mood disorder and progressive cognitive decline for 20 years as well as well-controlled diabetes mellitus and hypertension presenting with recurrent generalized seizures and acute right-sided weakness. The MRI of the brain showed acute infarction of the left pons, a large number of cerebral microbleeds throughout the brain and white matter abnormalities without classic anterior temporal lobe lesion. Molecular genetic testing identified homozygous pathologic variants, c.1672C>T (p. Arg558Cys) in the NOTCH3 gene. The diagnosis of CADASIL was confirmed. His clinical symptoms deteriorated, and he died of fever of unknown origin with secretion obstruction. Conclusion This case raises the awareness of an uncommon cause of acute ischemic stroke in patients with classic vascular risk factors and highlights the complete evaluation for an unexpected clinical presentation or unexpected diagnostic study results.