Course: Microbleeds in Heterozygous HTRA1 -Related Cerebral Small Vessel Disease
CME Credits: 1.00
Released: 2024-03-11
A 44-year-old man presented with a 2-year history of headache, dizziness, and imbalance. He had a history of hypertension and cervical disc herniation. One year ago, he underwent transcatheter closure for patent foramen ovale. His father had progressive cognitive decline and imbalance since the age of 50 years and died of cerebral hemorrhage at the age of 65 years. Neurological examination revealed brisk bilateral tendon reflexes and bilateral Babinski sign. Magnetic resonance imaging (MRI) showed lacunar infarctions and bilateral white matter hyperintensities (Figure 1). Susceptibility-weighted imaging displayed multiple cerebral microbleeds (CMBs) in a lobe-dominant distribution, mainly involving bilateral parieto-occipital lobes (Figure 2), which was similar to neuroimaging changes present in cerebral amyloid angiopathy (CAA). Genetic analysis revealed a heterozygous mutation (c.754G>A, p.A252T) in the HTRA1 gene, which has been previously reported.1 He was diagnosed with heterozygous HTRA1-related cerebral small vessel disease (CSVD).
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