Differential diagnosis of type A, B and C Niemann-Pick disease by conjunctival biopsy. An ultrastructural study of 16 cases
Year: 1979
Type: article
Study design: Observational Study
Abstract: 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.
Authors: Jacques Libert, P Danis
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W2900713637