Fabry Disease, CADASIL, and MELAS Features
This resource details the distinctive pathophysiology, clinical presentation patterns, inheritance profiles, and diagnostic neuroimaging criteria for key hereditary and metabolic causes of early-onset stroke.
Duration
00:03:13
File size
1.89 MB
Practitioner-Guided Note
When evaluating young stroke patients lacking traditional risk factors, consider rare hereditary etiologies. Suspect CADASIL if bilateral temporal lobe white matter lesions are present on MRI. Look for Fabry disease when posterior circulation strokes present alongside angiokeratomas and renal dysfunction. For MELAS, identify cortical stroke-like lesions that characteristically ignore normal vascular territories on neuroimaging.
Key Takeaways
CADASIL characteristically affects the external capsule and anterior temporal lobes.
Fabry disease is an X-linked deficiency of alpha-galactosidase A.
Sickle cell stroke risk is managed by maintaining hemoglobin S below thirty percent.
MELAS causes stroke-like episodes before age forty and cortical lesions crossing vascular boundaries.