CADASIL — SCE Neurology MCQ

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HardCerebrovascular DiseaseCADASILSCE Neurology

A woman has recurrent small-vessel intracerebral haemorrhages, porencephalic cavities, retinal arteriolar tortuosity and renal cysts. Her infant son had a perinatal cerebral haemorrhage. Which genetic diagnosis best unifies the family phenotype?

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Correct answer: B — COL4A1-related cerebral small-vessel disease

The best answer is “COL4A1-related cerebral small-vessel disease”. COL4A1-related basement-membrane disease can cause antenatal or adult cerebral small-vessel haemorrhage, porencephaly, leukoencephalopathy and systemic ocular, renal or muscular features with autosomal-dominant transmission. “CADASIL due to a pathogenic NOTCH3 variant” is less appropriate because CADASIL more often causes migraine and ischaemic small-vessel disease with characteristic temporal-pole MRI change, not this multisystem haemorrhagic phenotype “Fragile-X-associated tremor and ataxia syndrome” is less appropriate because FXTAS affects older premutation carriers with tremor and ataxia “Huntington disease due to an HTT expansion” is less appropriate because Huntington disease causes progressive chorea and neuropsychiatric change rather than familial porencephaly “MELAS due to a mitochondrial MT-TL1 variant” is less appropriate because MELAS produces a mitochondrial stroke-like syndrome and does not explain the collagen-IV systemic pattern

Reference: GeneReviews: COL4A1-related disorders. https://www.ncbi.nlm.nih.gov/books/NBK7046/