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A Rare Form of Adult Onset Leukodystrophy: Orthochromatic Leukodystrophy with Pigmented Glia

Published online by Cambridge University Press:  18 September 2015

P. Shannon ,
J.R. Wherrett  and
S. Nag
P. Shannon
Affiliation:
Department of Pathology (Division of Neuropathology), University of Toronto and The Toronto Hospital, Toronto, Ontario, Canada.
J.R. Wherrett
Affiliation:
Division of Neurology, University of Toronto and The Toronto Hospital, Toronto, Ontario, Canada.
S. Nag*
Affiliation:
Department of Pathology (Division of Neuropathology), University of Toronto and The Toronto Hospital, Toronto, Ontario, Canada.
*
Division of Neuropathology, The Toronto Hospital, Western Division, 399 Bathurst Street, Toronto, Ontario, Canada M5T 2S8
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Abstract:

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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.

Type
Original Articles
Information
Canadian Journal of Neurological Sciences , Volume 24 , Issue 2 , May 1997 , pp. 146 - 150
Copyright
Copyright © Canadian Neurological Sciences Federation 1997

References

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