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Diagnosis of type A Niemann Pick's disease by conjunctival biopsy

par Libert, Jacques ;Danis, Pierre
Référence PATH.EUROP., 10, 3, page (233-239)
Publication Publié, 1975

Article révisé par les pairs

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Résumé :

Electron microscopic examination of the conjunctiva of four children affected with Niemann Pick's disease revealed a widespread storage process. The epithelium, the connective tissue cells, the endothelial cells and the pericytes of the capillaries are filled with lysosomal inclusions with pleomorphic structure. The nerve fibres show destructive process of the myelin sheaths and accumulation of lipid material in the Schwann cells. The extension of the lesions is similar, as shown by morphologic and morphometric analysis in early and terminal stages of the disease. Conjunctival biopsy allows an early and secure diagnosis of Niemann Pick's disease, and should be performed when the clinical symptoms suggest a lysosomal disorder.