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Images in Neurology
July 15, 2019

Combined Cerebral Microbleeds With Lacunar Infarctions in Familial Cerebral Cavernous Malformations

Author Affiliations
  • 1Department of Neurology, Peking University First Hospital, Beijing, China
JAMA Neurol. 2019;76(9):1117-1118. doi:10.1001/jamaneurol.2019.1980

A 62-year-old man was admitted to the hospital because of dizziness, right-sided numbness, and mild weakness for 10 days. His medical history was unremarkable. The patient denied any history of smoking, drinking, or substance use. His vital signs were within normal range. The general medical examination results were normal. On neurological examination, he was conscious, alert, and oriented. No other focal neurologic deficits were noted except right-sided hypoesthesia. The results of laboratory tests, such as blood glucose and lipids, were within normal limits. Brain magnetic resonance imaging (MRI) showed dozens of spotted microbleeds in the bilateral cerebrum, cerebellum, and brainstem that were more obvious on a T2-weighted gradient echo sequence (Figure 1). In addition, multiple high-signal lesions distributed in the subtentorial and supratentorial regions were observed on diffusion-weighted imaging (Figure 2), with decreased apparent diffusion coefficient value (Figure 2B), indicating the presence of multiple acute lacunar infarctions. These lacunar infarctions were spatially distinct from the microbleeds, but most were adjacent to the microbleeds. An extensive diagnostic workup yielded unrevealing results, including cerebral vascular imaging, cardiac rhythm monitoring, a transcranial Doppler bubble test, blood and cerebrospinal fluid tests, and other routine laboratory examinations to assess for an etiology of the multiple cerebral infarctions. However, on genetic analysis, a novel heterozygous mutation, c.1133delC;p.P378Qfs*7, was identified in CCM1/KRIT1 using targeted next-generation sequencing. Genetic testing of 2 of the patient’s asymptomatic relatives identified the younger one as a carrier for this mutation, who also had multiple microbleeds on MRI. The patient soon recovered after symptomatic treatment. During a 1-year follow-up, he developed 2 recurrent episodes of transient focal neurologic symptoms that were self-limited, but repeated brain MRIs revealed new lacunar infarctions without any progression of the microbleeds.