Pigmentary type of orthochromatic leukodystrophy (OLD): a new case with ultrastructural and biochemical study.
A 34-year-old woman with no family history of orthochromatic leukodystrophy (OLD) developed progressive intellectual deterioration, a frontal syndrome and spastic tetraparesis. She died four years after the onset of the clinical illness. Neuropathological studies included light and electron microscopy of cerebral and nerve biopsies, and a complete postmortem examination. Light microscopy demonstrated OLD with pigmented macrophages and glial cells. Electron microscopy showed electron-dense, membrane-bound intracytoplasmic lamellar inclusions with curved or straight parallel arrangement, or fingerprint pattern, in white matter macrophages, astrocytes and oligodendrocytes. Cortical cells contained lipofuscin which was normal in type and amount. This suggests that the material in white matter glial cells and macrophages is ceroid pigment, however, the distribution is not that seen in ceroid-lipofuscinosis. Similar inclusions have been found in oligodendrocytes in other forms of OLD. Biochemical study did not show evidence of demyelination. Galactolipids were normal. Polyunsaturated fatty acids were decreased. The most striking feature was an increase in plasmalogens.
D000328:Adult; D001706:Biopsy; D001921:Brain / Q000648:ultrastructure*; D001923:Brain Chemistry; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000378:metabolism / Q000473:pathology*; D005227:Fatty Acids / Q000032:analysis; D005260:Female; D006801:Humans; D009132:Muscles / Q000473:pathology; D010525:Peripheral Nerves / Q000473:pathology; D010860:Pigments, Biological / Q000032:analysis; D010955:Plasmalogens / Q000032:analysis
D005227:Fatty Acids; D010860:Pigments, Biological; D010955:Plasmalogens