This is a brief video on three hereditary leukodystrophies: ALD, MLD, and GLD (Krabbe diease).
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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 - radiopaedia.org/images/318699 and radiopaedia.org/uploads/radio/..., CC BY-SA 3.0, 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, 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