Contribution génétique à l'etude de la maladie d'Addison-Schilder

Adrenoleukodystrophy

“…Histological findings in sural nerve biopsy material (case 3 end 4) The sural nerve showed histologically an irregular myelin degeneration especially of the bigger axons (Fig. 9).…”

“…N o metachromatic material could be identified on toluidin-blue, cresylviolet and trypaflavin stained sections. The pattern of myelin loss, presence of sudanophilic lipid, and absence of metachromatic debris categoriElectronmicroscopic findings in nerve biopsy material (cases 3 and 4) In the cytoplasma of the Schwann cells of the sural nerve the first morphological changes were vacuoles of the endoplasmatic reticulum (Fig. 10) and accumulation of storage material.…”

“…This is particularly important for the evaluation of the substitutional therapy of adrenal insufficiency. 4. Nerve biopsy material has been examined histologically and electronmicroscopically; the results confirm the diagnosis.…”

“…The etiology of this disease is still unknown. Genetic (Crome and Zapella 1963, Aguilar et al 1967, Chamoles et al 1971 biochemical (Brun and Voigt 1960, Aguilar et al 1967, Eviatar et al 1973) and immunological (Forsyth et al 1971) aspects have been discussed.…”