Antall József szerk.: Orvostörténeti közlemények 87-88. (Budapest, 1979)
TANULMÁNYOK - Czeizel, Endre: A heredodegeneraciós tan történeti értékelése (angol nyelven)
quantitative expansion. This cellular deformity is called after Bielschowsky (1920) Schaffer's cell or rather Schaffer's cellular process. (In the literature one can read sometimes about Schaffer-Spielmeyer's process because the latter author also described in 1908 and later in 1923 these characteristic histological changes in the different types of familial amaurotic idiocy.) Recent electron microscopic investigations then detected exactly the structure of these round corpuscules surrounded by multiple membranes. But let's quote Schaffer: "Hematoxylin stain means that since only lecithin is stained from among the components of myelinated fibres, these intracellular globules are of lecithinoid nature as I had named them." Thus, in accordance with Környei's opinion {1970) we can respect in Schaffer the first scientist to recognize lipoidoses. His neurohistological investigations, however, include more than the cellular deformity marked by his name. He stated that "This huge process of the ganglion cells must be completed with two important points. First . .. glial cells take part only secondarily in the process in so far as they have only decomposing and removing activities since they integrate the decomposition products of the degenerating neurons. .." "The other tissular component of the nervous system, the mesoderm .. .remains quite intact. .." But "it is an essential circumstance that" — this Schaffer's cellular deformity — "can be found in all the neurons of the nervous system." Károly Schaffer dealt a lot with the nosologic indépendance of TSD, too. There were two questions to be answered. One of them was the pathogenetic specificity of Schaffer's cellular degeneration, as it was later observed in the instances of several different clinical pictures (infantile Niemann —Pick, Gaucher, Spielmeyer — Sjögren, mucopolysaccharidosis Type II [Hunter's], etc.) But for a long time Schaffer's opinion was accepted namely that his cellular degeneration is the manifestation of one and the same specific genetic affection, and clinical difference must be due first of all to difference of age. Thus Károly Schaffer explained the similarity and also the clinical difference of the three forms of "familial amaurotic idiocy" (infantile [Tay-Sachs], juvenile [Vogt-Spielmeyer] and adult [Kufs]) by the anatomo-pathologic identity ("absolute neuronal selection and specific swelling of the neuron") and the different localisation (in juvenile and adult forms mostly the extrapyramidal system is affected) of the disease. Since then biochemically different lipides have been displayed in these clinical pictures, it is sure to be a matter of genetically different diseases. The other important pathologic problem was the specificity of the pathogenesis of TSD. On the basis of histopathologic similarity (definite swelling in the ganglion cells and a modest quantity of haematoxylin stained globules) famous authors, such as Bielschowsky, Spielmeyer, Kufs and others regarded Niemann-Pick disease and TSD as different manifestations of the same metabolic disorder of common lipoid origin. Schaffer, on the contrary, rightly conceived of them as distinct disease entities. He argued as follows: ".. .first of all, in the case of TSD Pick's foam cells, specific of Niemann-Pick disease are missing; these are globular, mesodermic wandering elements.' However, the lipoid of TSD "originates from the nervous system itself, it means locally, i.e. it is of cerebral origin." Accordingly, we never meet hepatosplenomegaly in TSD and lipoidosis of other organs is not characteristic, either. Moreover, in case of Niemann-Pick disease "the blood vessels and the membranes are loaded with fine lipoid granules (after heamatoxylin staining they look like black wires in the intima)" ,
