Leucodystrophy with pigmented glial and scavenger cells (pigmentary type of orthochromatic leucodystrophy)

A 38-year-old man with progressive psychiatric disturbances, dysarthria, myoclonus, rigidity and terminal generalized seizures died 4 years after onset. At post-mortem, severe leucodystrophy of the centrum semi-ovale, corpus callosum and internal capsule was found. In the demyelinated areas, abundant mononuclear phagocytes were found filled with dark yellow or brown pigment granules, staining with PAS and Sudan black, autofluorescent in paraffin sections, and orthochromatic with toluidine blue in paraffin and frozen sections and positive with Fontana's silver method. Iron deposits were present in a few cells. Electron micrographs of a biopsy showed massive storage of lipofuscin and ceroid with fingerprint profiles in macrophages and, to a lesser degree, in astrocytes as well. Oligodendroglia were depleted in demyelinated areas but prominent in the subcortical regions and in small foci in the deep cerebral white matter; they contained intracytoplasmic inclusions with fingerprint profiles. From these morphological findings it is suggested that lipofuscin and ceroids are the lipopigments stored in the pigmentary type of orthochromatic leucodystrophy.