Ultrastructural findings of peripheral nerve in a preclinical case of adult metachromatic leukodystrophy.
In a 13-year-old neurologically healthy boy from a family with adult-onset of metachromatic leukodystrophy (MLD) showing arylsulfatase A-deficiency in the adult, sural nerve biopsy probably was performed 2-3 decades before clinical manifestation of the disease could be expected. Ultrastructurally 4 basic types of inclusion bodies in Schwann cells could be demonstrated (pleo-morphic "zebra body"-like inclusions, double-lamellated inclusions, "tuff-stone"-like inclusions, granular osmiophilic inclusions). Additionally, endoplasmatic reticulum, mitochondria and lysosomes showed marked alterations. Advanced damage of myelin was only rarely seen, but initial segmental demyelination was a common finding. These early pathological changes in chronic MLD are thought to represent a subcellular metabolic insufficiency of Schwann cells in this disease.
D000293:Adolescent; D003594:Cytoplasmic Granules / Q000648:ultrastructure; D004721:Endoplasmic Reticulum / Q000648:ultrastructure; D006003:Glycogen / Q000378:metabolism; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D007966:Leukodystrophy, Metachromatic / Q000378:metabolism / Q000473:pathology*; D008062:Lipofuscin / Q000378:metabolism; D008297:Male; D008854:Microscopy, Electron; D008928:Mitochondria / Q000648:ultrastructure; D009186:Myelin Sheath / Q000648:ultrastructure; D010525:Peripheral Nerves / Q000378:metabolism / Q000648:ultrastructure*; D012583:Schwann Cells / Q000648:ultrastructure; D013433:Sulfoglycosphingolipids / Q000378:metabolism
D008062:Lipofuscin; D013433:Sulfoglycosphingolipids; D006003:Glycogen