Polyneuropathy with lipid deposits in Schwann cells and axonal degeneration in cerebrotendinous xanthomatosis.
The present paper is a histological, histochemical and electron microscopic study of biopsied specimens from both right and left Achilles tendon, sural nerve and gastrocnemius muscle in a case of peripheral neuropathy with decreased sensory conduction velocity within a cerebrotendinous xanthomatosis confirmed biochemically in a 29-year-old woman. The tendon specimens contained large deposits of complex, non-homogeneous lipids, distributed intra- and extracellularly. The right sural nerve specimen showed a very severe neuropathy with massive diffuse myelinated fiber loss, presence of foamy macrophages and lipid droplets in Schwann cells. Segmental de- and remyelination was noted in 17% of the teased myelinated fibers. No onion bulbs were observed. Two years later, the left sural nerve specimen revealed a mild diffuse myelinated fiber loss, a more active segmental de- and remyelination (23%) without onion bulbs, and an active regeneration. Lipid storage aspects were absent. The gastrocnemius muscle specimens exhibited slight alterations of neurogenic origin. The pathogenesis of this neuropathy is discussed.
Voiculescu
V
V
Institute of Neurology and Psychiatry, Institute Cantacuzino, Bucharest, Romania.
Alexianu
M
M
Popescu-Tismana
G
G
Pastia
M
M
Petrovici
A
A
Dan
A
A
D000125:Achilles Tendon / Q000032:analysis / Q000648:ultrastructure; D000328:Adult; D001369:Axons / Q000473:pathology*; D001706:Biopsy; D005260:Female; D006801:Humans; D008055:Lipids / Q000032:analysis*; D009132:Muscles / Q000032:analysis / Q000648:ultrastructure; D009410:Nerve Degeneration; D010523:Peripheral Nervous System Diseases / Q000473:pathology*; D012583:Schwann Cells / Q000378:metabolism / Q000648:ultrastructure*; D013497:Sural Nerve / Q000032:analysis / Q000648:ultrastructure; D014973:Xanthomatosis / Q000473:pathology*
D008055:Lipids