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Fabry's disease: an ultrastructural study of muscle and peripheral nerve
Clinical Neuropathology
|July 1, 1984
Abstract:
A 9-year-old boy, presented with disseminated angiomatous lesions on the right leg. Ultrastructural examination of muscle and peripheral nerve showed numerous lamellar inclusions characteristic of Fabry's disease in the vessel's walls and perineurial cells. In addition, there were typical lamellar inclusions in some muscle fibers. Large myelinated fibers were reduced in number and some myelinated fibers showed segmental demyelination. Some lipid deposits displaying a lamellar pattern were occasionally seen in a few myelinated and unmyelinated axons. These abnormalities of nervous fibers are uncommon in Fabry's disease.
Insights
Fabry
Area of Science:
- Neurology
- Pathology
- Genetics
Background:
- Fabry disease is a rare genetic disorder.
- It affects multiple organ systems.
- Characterized by alpha-galactosidase A deficiency.
Observation:
- A 9-year-old boy presented with angiomatous lesions.
- Lesions were located on his right leg.
- Ultrastructural examination revealed characteristic findings.
Findings:
- Lamellar inclusions were found in vessel walls and perineurial cells.
- Muscle fibers also showed inclusions.
- Nervous fibers displayed reduced large myelinated fibers, demyelination, and lipid deposits.
Implications:
- These nervous system findings are unusual for Fabry disease.
- Highlights the diverse clinical presentations of Fabry disease.
- Suggests potential for novel therapeutic targets in neurological manifestations.