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  • Cockayne's syndrome  (1)
  • 1
    Electronic Resource
    Electronic Resource
    Neurological sciences 7 (1986), S. 447-452 
    ISSN: 1590-3478
    Keywords: Cockayne's syndrome ; peripheral neuropathy ; sural nerve biopsy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: 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.
    Notes: 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
    Type of Medium: Electronic Resource
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