[Globoid cell leucodystrophy (Krabbe's disease). Peripheral nerve lesion (author's transl)]

Area of Science:

• Neuropathology
• Neuroscience
• Cell Biology

Context:

• Globoid cell leucodystrophy (Krabbe's disease) is a rare genetic disorder.
• Peripheral neuropathy is a significant clinical manifestation.
• Understanding nerve pathology is crucial for diagnosis and management.

Purpose:

• To investigate the morphological changes in peripheral nerves of patients with Krabbe's disease.
• To correlate nerve findings with clinical symptoms.
• To identify ultrastructural markers for Krabbe's disease diagnosis.

Summary:

• Morphological analysis revealed segmental demyelination, loss of large myelinated fibers, and collagen proliferation in peripheral nerves.
• Electron microscopy showed remyelination with onion-bulb formations and characteristic cytoplasmic inclusions in Schwann cells and fibroblasts.
• These ultrastructural findings, likely due to cerebroside metabolism disturbance, are specific for Krabbe's disease diagnosis.

Impact:

• Provides detailed neuropathological insights into Krabbe's disease.
• Explains the neurological deficits observed in patients, such as reflex loss and slowed nerve conduction.
• Highlights specific ultrastructural features aiding in definitive diagnosis.