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Pelizaeus-Merzbacher disease. The Löwenberg-Hill type
Abstract:
The clinical and neuropathological findings are reported of two sibs with adult type PMD. Clinical features deviating from the usual pattern included: no psychosis, no measurable dementia, no dwarfism, no microcephaly, no (marked) involuntary movements, but conspicuous generalised muscle atrophy and denervation, impairment of vital and gnostic sensation, thoracolumbar vertebral anomalies, and aplasia of os coccygis. Neuropathological findings were as usual, with additional unusual features: pinhead-size areas of acute myelin-abbau products, involvement of grey in addition to white matter, and upon ultrastructure, the new finding of intra-oligodendroglial fingerprint bodies, both in neuronal satellite and in white matter oligoglia, but not in astrocytes, ganglion cells, or pericytes. This excludes the origin of the stored material in the lysosomes as to derive exclusively from demyelination and would possibly imply PMD to be an oligodendroglial lysosomal storage disease.
Insights
This study details two siblings with adult-onset Primary Megalencephalic Disease (PMD), revealing atypical clinical and neuropathological features. Findings suggest PMD may be an oligodendroglial lysosomal storage disease.
Area of Science:
- Neurology
- Genetics
- Pathology
Background:
- Adult-onset Primary Megalencephalic Disease (PMD) is a rare genetic disorder.
- Understanding its diverse clinical and pathological spectrum is crucial for diagnosis and management.
Observation:
- Two siblings presented with atypical clinical manifestations of PMD, including generalized muscle atrophy, sensory impairment, and vertebral anomalies.
- Neuropathological examination revealed unusual features such as acute myelin breakdown products in grey matter and intra-oligodendroglial fingerprint bodies.
Findings:
- The observed neuropathology, particularly the presence of fingerprint bodies within oligodendroglia, challenges traditional understandings of PMD pathogenesis.
- These findings suggest a potential lysosomal storage role within oligodendrocytes, distinct from primary demyelination.
Implications:
- This research may lead to a reclassification of PMD as an oligodendroglial lysosomal storage disease.
- Further investigation into these unique ultrastructural findings could uncover novel therapeutic targets for PMD and related leukodystrophies.