Abstract
Two siblings with Cockayne syndrome are reported. In one case a sural nerve biopsy showed a demyelinating peripheral neuropathy with occasional inclusions in Schwann cells made up of electron dense finely granular material intermingled with vacuoles or lamellar structures. The significance, if any, of this accumulated material remains unclear. The presence, in addition, of small finely lamellar intra-axonal osmiophilic bodies suggests an associated axonal involvement
Sommario
Vengono descritti due casi di Sindrome di Cockayne. In un caso è stata effettuata una biopsia del nervo surale che ha evidenziato una neuropatia periferica di tipo demielinizzante con rare inclusioni nelle cellule di Schwann, formate da materiale osmiofilo finemente granulare, vacuoli e strutture lamellari. Il significato di tali inclusioni è molto incerto. La presenza inoltre di corpi osmiofili lamellari intrassonali suggerisce una associata compromissione assonale.
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References
Grunnet M L, Zimmerman A. W, Lewis R. A:Ultrastructure and electrodiagnosis of peripheral neuropathy in Cockayne's syndrome. Neurology (Cleveland) 33, 1606–1609, 1983.
Gutrecht J. A, Dyck P. J:Quantitative teased-fiber and histological studies of human sural nerve during postnatal development. J. Comp. Neur. 138, 117–130, 1970.
Guzzetta F.:Cockayne-Neill-Dingwall syndrome. In: Vinken P.J., Bruryn G.W. (eds) Handbook of Clinical Neurology, Amsterdam, North Holland Publ. Co., Vol. 13, 431–440, 1972.
Inone K, Hanyu N, Takatsu M, Yanagisawa N, Tsukagoshi H:The Cockayne's syndrome with benign clinical course. A study of four cases from two families. Rinisho Shinkeigaku, 18, 447–485, 1979.
Moosa A, Dubowitz V:Peripheral neuropathy in Cocakyne's syndrome. Arch. Dis. Child., 45, 674–677, 1970.
Morris J. H, Hudson A. R, Weddel G:A study of degeneration and regeneration in the divided rat sciatic nerve based on electron microscopy. III Changes in the axons of the proximal stump. Z. Zellforsch, 124, 131–164, 1972.
Roy S., Srivastava R. N., Gupta P. C., Mayerkar G.:Ultrastructure of peripheral nerve in Cockayne's syndrome. Acta Neuropathol. (Berl.), 24, 345–349, 1973.
Smits M. G., Gabreels F. J. M., Renier W. O., Joosten E. M. G., Gabreels-Festern A A W M, Laak Ter H J, Pinckers A J L, Hombergen G C J, Notermans S. L. H., Thijssen H O M:Peripheral and central myelinopathy in Cockayne's syndrome. Report of 3 siblings. Neuropediatrics, 13, 161–167, 1982.
Srivastava R. N., Gupta P. C., Mayekar G., Roy S.:Cockayne's syndrome in two sisters. Acta Paediat. Scand., 63, 461–464, 1974.
Vital C., Vallat J. M.:Ultrastructural study of the human diseased peripheral nerve. New York, Masson, 149–166, 1980.
Vos A., Gabreels-Festen A., Joosten E., Gabreels F., Renier W., Mullaart R.:The neuropathy of Cockayne's syndrome. Acta Neuropathol. (Berl) 61, 153–156, 1983.
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Schenone, A., Rolando, S., Ferrari, M. et al. Peripheral neuropathy in Cockayne syndrome. Ital J Neuro Sci 7, 447–452 (1986). https://doi.org/10.1007/BF02283024
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DOI: https://doi.org/10.1007/BF02283024