Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: Different clinical features in a family – A case report

Abstract

Introduction. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy is the most common monogenic disease of small blood vessels. It commonly presents with repeated epi?sodes of brain ischemia leading to progressive subcortical vascular dementia, migraine attacks and mood disorders. Case Report. A 46-year-old male patient was admitted with clinical presentation of stroke. The neurological examination revealed mild divergent strabismus and a left homonymous hemianopia. Brain magnetic resonance imaging showed subacute infarction in the region of the posterior cerebral artery to the right, as well as similar lesions in the splenium of the corpus callosum, numerous mostly confluent and some discrete T2-weighted/fluid attenuated inversion recovery hyperintense lesions of the centrum semiovale, corona radiata, frontoparietal subcortex, capsula externa, periventricularly at the level of occipital and temporal horns of lateral chambers bilaterally, and small punctiform lesions in the region of the corpus callosum. The magnetic resonance angiography findings were normal. The patient?s brother underwent neurological examination at the age of 42 due to severe headaches, double vision, confusion, and numbness in the right arm. The magnetic resonance imaging of the endocranium showed multifocal confluent ischemic lesions predominantly in the frontal and temporal lobes, as well as focal microangiopathic changes in the gangliocapsular regions bilaterally in the brainstem and cerebellum. In agreement with the patient and his brother, genetic analyses were performed in both of them, and a mutation in exon 3 of the neurogenic locus notch homolog protein 3 gene was confirmed (c.505C > t, p.R169C). Conclusion. Although there is no causal therapy, it is very important to diagnose cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in order to implement measures to prevent cerebrovascular diseases in both patients and their family members.