title: A rare form of adult onset leukodystrophy: orthochromatic leukodystrophy with pigmented glia.
abstract: BACKGROUND
  Orthochromatic leukodystrophy with pigmented glia and scavenger cells is a rare leukodystrophy of unknown etiology. This report describes a 42-year-old man with a history of depression, dementia and parkinsonism having the pathological features of orthochromatic leukodystrophy with pigmented glia.
  
  
  METHODS
  We reviewed the clinical history and pathology of autopsy and brain biopsy material.
  
  
  RESULTS
  Imaging revealed bilateral cerebral white matter hypodensities. At autopsy, the brain demonstrated a leukodystrophy affecting predominantly the cerebral hemispheres and characterized by demyelination, and cytoplasmic pigment deposits in oligodendroglia and astrocytes. The pigment had the staining properties of ceroid-lipofuschin and on ultrastructural examination was composed of membrane-bound lipid and electron-dense inclusions which had a fingerprint-like pattern. Similar pigment inclusions were not observed on ultrastructural examination of renal, splenic or hepatic tissue obtained at autopsy. The brain biopsy contained cerebral cortex with sparse subcortical white matter in which a few oligodendroglia and fewer astrocytes at the grey/white junctions showed cytoplasmic pigmentary inclusions identical to those described above. However, due to the paucity of white matter in the specimen a definite diagnosis of orthochromatic leukodystrophy with pigmented glia was not made.
  
  
  CONCLUSIONS
  The diagnosis of orthochromatic leukodystrophy with pigmented glia and scavenger cells can only be made antemortem if the brain biopsy contains adequate white matter and although a rare condition, it should be considered in the differential diagnosis of an adult onset leukodystrophy.
authors.affiliation: Department of Pathology, University of Toronto, Ontario, Canada.
authors.forename: P
authors.initials: P
authors.lastname: Shannon
authors.forename: J R
authors.initials: JR
authors.lastname: Wherrett
authors.forename: S
authors.initials: S
authors.lastname: Nag
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology / Q000648:ultrastructure; D001927:Brain Diseases / Q000378:metabolism / Q000473:pathology*; D017809:Fatal Outcome; D005904:Glial Fibrillary Acidic Protein / Q000378:metabolism; D006801:Humans; D007668:Kidney / Q000473:pathology / Q000648:ultrastructure; D008099:Liver / Q000473:pathology / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron; D009457:Neuroglia / Q000378:metabolism / Q000502:physiology*; D010858:Pigmentation; D013154:Spleen / Q000473:pathology / Q000648:ultrastructure
chemical_list: D005904:Glial Fibrillary Acidic Protein