Die pigmentierte Form der orthochromatischen Leukodystrophie

Abstract

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.

Defective Glial Maturation in Vanishing White Matter Disease

“…For example, GFAP/GalC co-expressing cells were detected in glial cultures from shiverer mice, which have a partial deletion of the myelin basic protein gene (MBP) (23), as well as in the cat optic nerve after experimental demyelination (24). GalC-positive astrocytes were also reported in tissue sections from patients with the pigmentary type of orthochromatic leukodystrophy (25). GFAP-positive cells expressing other oligodendrocyte or myelin markers, including sulfatide/O4, myelin basic protein, and myelin/oligodendrocyte specific protein, have been detected in sections of normal adult rat brain (26), hypomyelinated brains of shiverer, quaking and phenylketonuria mice (23), and in the spinal cord of mice with viral-induced demyelination (27).…”