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Differential diagnosis of type A, B and C Niemann-Pick disease by conjunctival biopsy. An ultrastructural study of 16 cases

par Libert, Jacques ;Danis, Pierre
Référence Journal of submicroscopic cytology, 11, 1, page (143-157)
Publication Publié, 1979

Article révisé par les pairs

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Résumé :

Conjunctival biopsies have been performed in 16 patients suffering from type A, B or C Niemann-Pick disease. They displayed significantly different lesions by electron microscopy: all cells were severely affected in type A and showed the lysosomal storage of pleomorphic membranous structures, more or less altered by the embedding procedure. In type B, every cell also contained rather similar inclusions, which were however far less numerous than in type A. On the contrary in type C, the fibroblasts were essentially involved and presented mainly an accumulation of characteristic multivesicular inclusions. These alterations were evident in the first months of life in patients with type A and C, but were significant only after the age of 2 1/2 years in patients with type B. The topography and the fine structure of the second material allow the differential diagnosis of these three forms of Niemann-Pick disease.