DIFFERENTIATION OF RARE LEUKODYSTROPHIES BY POSTMORTEM MORPHOLOGICAL AND BIOCHEMICAL-STUDIES - FEMALE ADRENOLEUKODYSTROPHY-LIKE DISEASE ANDLATE-ONSET KRABBE DISEASE

Two 6-year-old patients with clinical signs of leukodystrophy had no n osological diagnoses in vivo. Neuropathological studies revealed scave nger cells to be clustered in perivascular regions of the demyelinated brains. Histochemical. and ultrastructural details of the non-metachr omatic storage macrophages suggested lipid storage and prompted a bioc hemical analysis of cerebral tissue. The detection of increased amount s of very long chain fatty acids in the cholesterol ester fraction fro m formalin tissue in one patient was consistent with a diagnosis of an adrenoleukodystrophy-like condition, while the marked reduction in be ta-galactocerebrosidase activity in a frozen brain sample of the secon d patient indicated Krabbe disease. The diagnostic potential of post-m ortem studies in rare leukodystrophies is addressed.