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Post-Stroke Blood Pressure Target — SCE Neurology MCQ

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HardCerebrovascular DiseasePost-Stroke Blood Pressure TargetSCE Neurology

A 46-year-old develops rapidly progressive apathy, executive dysfunction, asymmetric parkinsonism and pyramidal signs. MRI shows asymmetric frontoparietal white-matter disease, marked corpus-callosum thinning and persistent punctate diffusion-restricted lesions. Which molecular test is the highest-yield next step?

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Reveal the answer and explanation

Correct answer: B — Test CSF1R for a pathogenic variant

Explanation lettering: E = shown as B · B = shown as E

AARS2 leukodystrophy can resemble this disorder but lacks the particularly characteristic persistent diffusion dots and is recessive. B suggests CADASIL, usually with lacunes, microbleeds and anterior temporal or external-capsule involvement. C causes adult-onset autonomic dysfunction with symmetric demyelinating leukodystrophy. D causes vanishing-white-matter disease. E is correct: the behavioural-parkinsonian syndrome, callosal thinning and persistent punctate diffusion restriction strongly support CSF1R-related adult-onset leukoencephalopathy.

Reference: Diagnosis of CSF1R-related leukoencephalopathy: https://pmc.ncbi.nlm.nih.gov/articles/PMC5741468/