Two 6-year-old patients with clinical signs of leukodystrophy had no nosological diagnoses
in vivo. Neuropathological studies revealed scavenger cells to be clustered in perivascular
regions of the demyelinated brains. Histochemical and ultrastructural details of the
non-metachromatic storage macrophages suggested lipid storage and prompted a biochemical
analysis of cerebral tissue. The detection of increased amounts of very long chain
fatty acids in the cholesterol ester fraction from formalin tissue in one patient
was consistent with a diagnosis of an adrenoleukodystrophy-like condition, while the
marked reduction in β-galactocerebrosidase activity in a frozen brain sample of the
second patient indicated Krabbe disease. The diagnostic potential of post-mortem studies in rare leukodystrophies
is addressed.
Adrenoleukodystrophy -
Krabbe disease - Mononucleated storage cells - Very long chain fatty acids - β-alactocerebrosidase
