Fabry disease stroke — SCE Neurology MCQ
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Correct answer: A — Alpha-galactosidase A activity with confirmatory GLA testing
The best answer is “Alpha-galactosidase A activity with confirmatory GLA testing”. The multisystem X-linked phenotype is Fabry disease; low alpha-galactosidase A activity is informative in an affected man and GLA analysis confirms the diagnosis and supports cascade testing. “NOTCH3 sequencing for an inherited small-vessel disorder” is less appropriate because CADASIL does not explain angiokeratomas, hypohidrosis and renal disease “Serum copper and caeruloplasmin with urinary copper testing” is less appropriate because copper testing addresses Wilson disease rather than this X-linked lysosomal phenotype “HTT CAG-repeat analysis for an inherited movement disorder” is less appropriate because Huntington disease causes chorea and neuropsychiatric decline “Serum AQP4-IgG using a validated cell-based assay” is less appropriate because AQP4 autoimmunity causes inflammatory optic-spinal attacks rather than lifelong systemic storage disease
Reference: GeneReviews: Fabry Disease. https://www.ncbi.nlm.nih.gov/books/NBK1292/