Leukodystrophies

Music to Greensleeves by Unknown Composer, Lyrics by Arie Perry, M.D.

The group of familial leukodystrophies, cause genetic demyelinating disease
An inborn error of metabolism, mostly triggered by enzyme deficiencies
Toxic products accumulate, as the oligodendrocytes suffocate
U-fibers are spared, it’s a mystery that this region remains unaffected

Metachromatic leukodystrophy, a recessive arylsulfatase A deficiency
Sulfatide harms oligos and Schwann cells, macrophages pick up their debris
Cresyl violet dye turns it brown, and prismatic inclusions on EM wins hands down
Sural nerve biopsy in MLD, may show onion bulbs and metachromatic Schwann cells

Krabbe’s disease strikes in infancy, galactocerebrosidase deficiency
Autosomal recessive inheritance, and galactocerebroside toxicity
Central and peripheral disease, multinucleated globoid cells diagnose with ease
These distinct histiocytic cells try to clear up the toxic byproducts

Adrenoleukodystrophy or ALD is an X-linked recessive myelinopathy
Very long chain fatty acids accumulate from peroxisomal transporter defects
Perivascular lymphocytes, along with numerous histiocytes
Resembles active MS disease, but young boys are the ones under seige