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Images in Neurology |

Massive Pontine Microbleeds in a Patient With CADASIL

Seong-il Oh, MD1; Seung Hyun Kim, MD1; Hee-Jin Kim, MD1
[+] Author Affiliations
1Department of Neurology, College of Medicine, Hanyang University, Seoul, Republic of Korea
JAMA Neurol. 2014;71(8):1048-1049. doi:10.1001/jamaneurol.2014.45.
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A 46-year-old woman developed dysarthria for 2 weeks. She also manifested headaches for several years. Her blood pressure was 140/99 mm Hg. The results of a neurologic examination showed right hemiparesis with a power grade of 3/5 in the right upper limb and lower limb, but her cognitive function and deep tendon reflexes were normal, and pathologic reflex was absent. Her Korean Mini-Mental State Examination score was 30, and her Clinical Dementia Rating score was 0. Initial laboratory results were unremarkable. Magnetic resonance imaging of her brain showed confluent microbleeds in the basal pons (Figure) and high–signal intensity lesions with inherent microbleeds in the bilateral periventricular white matter, basal ganglia, and thalamus. The woman’s family history showed that her mother presented with dementia and that her brother had a stroke. Analysis of the NOTCH3 gene in the patient revealed a novel mutation (P1008S), and the patient then received a diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); however, DNA samples from family members were not available.

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Axial Magnetic Resonance Imaging of the Brain

Axial, gradient-echo–weighted (A) and susceptibility-weighted (B) scans reveal confluent microbleeds in the pons (arrowhead). Fluid-attenuated inversion recovery (C) and high-resolution magnetic resonance imaging proton-density weighted (D) scans showing the heterogeneous signal intensity suggest the temporally unpredictable development of microbleeds.

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