Clinical genetics / edited by Arnold Sorsby.

Date:
1953
Catalogue details

Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Credit: Clinical genetics / edited by Arnold Sorsby. Source: Wellcome Collection.

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    DISTURBANCES OF LIPOID METABOLISM disease suggests some relationship between Gaucher's disease and amaurotic idiocy, Niemann-Pick disease Clinical aspects.—Niemann-Pick disease closely resembles the infantile form of Gaucher's disease, but runs a more rapid course to a fatal issue before the end of the second year. Unlike Gaucher's disease the affection is not limited solely to the reticulo- endothehal system (hver, spleen, lymph nodes, bone marrow; Fig. 77), but invades ubiquitously both the parenchymal and mesenchymal elements of the organs (muscles, central nervous system, endocrine glands). The characteristic substance of Niemann-Pick disease is a lipid complex formed primarily of phosphatides (sphingomyelin). The typical histological elements are the Pick foam cells filled with lipoid droplets. The affection is rare (43 published cases by 1949, Didion) and shows a certain predilection for the female sex and for the Jewish race. Fig. 77.—Roentgenogram of a boy aged 1 year affected with Niemann-Pick disease. (By courtesy of Dr. U. Pfändler.) Note the enormous hepatomegaly and splenomegaly, and the thickening of the pulmonary fibrous framework owing to deposits of lipids respon¬ sible for the opacification, and micro-nodular and trabecular aspect. Clinically, there are feeding difficulties, considerable hepato-splenomegaly, brownish-yellow skin coloration and enlargement of the lymph nodes. The blood frequently reveals hypercholesterolaemia and modifications of the blood concen¬ trations of different lipoid substances. The neuro-ocular signs simulate those of Tay-Sachs infantile amaurotic idiocy; mental deficiency, spastic paraplegia, opisthotonus, convulsions and, in about one-third of the cases, a cherry-red spot surrounded by a whitish zone in the macular region. The relationship between these two affections is uncertain. Most neuropathologists hold that there is a close relationship and possibly even identity, between both of these diseases—a view based on the presence of visceral 195