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Leukodystrophies ALD MLD and GLD
>> YOUR LINK HERE: ___ http://youtube.com/watch?v=7eO8kQOW7GY
This is a brief video on three hereditary leukodystrophies: ALD, MLD, and GLD (Krabbe diease). • I created this presentation with Google Slides. • Image were created or taken from Wikimedia Commons • I created this video with the YouTube Video Editor. • ADDITIONAL TAGS: • Leukodystrophies • Disorders that cause degeneration of white matter in brain • Show diffuse white pattern on MRI • Usually present in children with developmental disabilities • Subcortical U fibers connecting gyri of the brain are typically well-preserved • This is NOT an exhaustive list • ALD • MLD • GLD • Adrenoleukodystrophy • Aka X-linked ALD or adrenomyeloneuropathy • X-linked inheritance • Deficiency in ATP binding cassette transporter (ABCD1) • Diagnose with elevated very long chain fatty acid • Peroxisomal disorder • Demyelination in occipital lobe (ALD) and brainstem/spinal cord (AMN) • In addition to myelin in CNS/PNS, also affects adrenal cortex and Leydig cells in the testes • Macrophages containing long chain fatty acid • Treatment Lorenzo’s oil (triglyceride mixture) is controversial and unproven • By Frank Gaillard - http://radiopaedia.org/images/318699 and http://radiopaedia.org/uploads/radio/..., CC BY-SA 3.0, https://commons.wikimedia.org/w/index... • ALD • MLD • GLD • Metachromatic leukodystrophy • Autosomal recessive • Deficiency in arylsulfatase A • Sulfatide accumulates in CNS/visceral cells • Lysosomal storage disease; sphingolipidoses (sphingolipid metabolism) • Variable presentation: ataxia, dementia • Starts after 6 months of age in late infantile, juvenile, and adult forms • Macrophages containing sulfatide (metachromatic material) • By Shoyrudude555 at English Wikipedia - Transferred from en.wikipedia to Commons., Public Domain, https://commons.wikimedia.org/w/index... • ALD • MLD • GLD • Krabbe disease • Aka globoid cell leukodystrophy (GLD) or galactosylceramide lipidosis • Autosomal recessive • Deficiency in galactocerebroside-b-galactosidase • Lysosomal storage disease; sphingolipidoses (sphingolipid metabolism) • Presents as irritability, peripheral neuropathy, optic atrophy, decerebrate posture (extension of upper extremities), developmental delay • Generally fatal before age two • Histo shows characteristic multinucleated globoid cells • Macrophages containing galactocerebroside • ALD • MLD • GLD
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