Neurology Exam Prep Podcast Episode 21: Leukodystrophies
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Sep 15, 2020 In this discussion, pediatric neurology expert Kathleen Cardinale dives into the complexities of childhood-onset leukodystrophies. She breaks down various forms, like lysosomal storage disorders, focusing on metachromatic leukodystrophy and Tay-Sachs disease, their genetic causes, and clinical symptoms. The conversation highlights the importance of early diagnosis and distinct MRI patterns in these conditions. Cardinale also touches on potential treatments, including stem cell therapy, providing learners with vital insights into these rare neurological disorders.
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Leukodystrophies Defined
- Leukodystrophies are genetic diseases primarily affecting white matter and myelin in the brain.
- They involve demyelination, dysmyelination, or hypomyelination, causing progressive neurological decline.
Types of Leukodystrophies
- Leukodystrophies can be categorized as demyelinating or hypomyelinating.
- Lysosomal storage disorders are a common group causing myelin defects via enzyme deficiencies leading to toxic substance accumulation.
Lysosomal Disorders Key Features
- Lysosomal storage disorders causing leukodystrophy are autosomal recessive.
- They spare U-fibers on MRI and include diseases like metachromatic leukodystrophy and Krabbe disease with early childhood onset and progressive decline.