[Pigmented form of orthochromatic leukodystrophy].
The pigmentary type of orthochromatic leukodystrophy (van Bogaert-Nyssen disease) is a hardly known neurological disorder usually with late onset that is very difficult to diagnose in vivo. Neuropathologically, the disorder features noninflammatory demyelination and the presence of pigmented macrophages and astrocytes that may contain iron. Clinically, van Bogaert-Nyssen disease can lead to death within a few years and is characterized by dementia, psychiatric abnormalities, epileptic seizures, spastic pareses, and occasionally extrapyramidal motor symptoms. This report presents a typical case and an overview of the literature. Furthermore, galactocerebroside could be documented in remaining macrophages and astrocytes by immunohistochemistry. This possibly indicates a dysfunction in sphingolipid breakdown and could relate the pigmented form of orthochromatic leukodystrophy to the genetically defined globoid cell leukodystrophy (Krabbe's disease). Thus, the rather heterogeneous pool of orthochromatic leukodystrophies could be further narrowed.
Möller
J C
JC
Klinik für Neurologie, Philipps-Universität Marburg. moellerc@staff.uni-marburg.de
Sünkeler
I H
IH
Oertel
W H
WH
Mennel
H D
HD
D000328:Adult; D001253:Astrocytes / Q000473:pathology; D001921:Brain / Q000473:pathology; D020739:Brain Diseases, Metabolic, Inborn / Q000473:pathology*; D003711:Demyelinating Diseases / Q000473:pathology*; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D005699:Galactosylceramides / Q000032:analysis*; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology; D007501:Iron / Q000032:analysis; D007965:Leukodystrophy, Globoid Cell / Q000473:pathology; D008062:Lipofuscin / Q000032:analysis; D008264:Macrophages / Q000473:pathology; D008854:Microscopy, Electron; D009186:Myelin Sheath / Q000473:pathology; D010525:Peripheral Nerves / Q000473:pathology; D013106:Sphingolipidoses / Q000473:pathology*
D005699:Galactosylceramides; D008062:Lipofuscin; C002454:galactocerebroside; D007501:Iron