Die Schweizer Fälle von Splenohepatomegalie (Niemann-Pick) Ein Beitrag zur genetischen Abgrenzung der Phospatid-Lipoidosen
Authors: Hanhart E. 
Published: July 2016

In this paper a counterpart is given to the data of our investigation about the incidence ofinfantile amaurotic idiocy(Tay-Sachs) in Switzerland, published here in 1954. The term «the-saurismose» is rather unclear and had to be critisised byLetterer. The diagnose of all lipidosis is more difficult than of any other genetic character, as neither a thorough clinical and histological examination nor the chemical analysis of the brain and the big abdominal organs (spleen, liver etc.) is sufficient; it ought always to be completed by the modern histochemical method at least if we want to separate the M. Niemann-Pick from the M. Tay-Sachs. The quarrel between the « unitarists » and the « dualists » concerning the independence of these two phosphatid-lipidosis does not seem to be ended definitely by chemical analysis of the affected organs. Undoubtfully these two very similar diseases must have many common traits in their pathogenesis. This does not mean, however, that they do not depend on 2 different genes, may be working at the same pheno-genetical chain (Klenk), perhaps there is a pseudo-allely, which as a matter of fact can hardly ever become proved in men. This author showed that the M. Niemann-Pick is regularly characterised by a high percentage of sphingomyelin whilst in the M. Tay-Sachs the gangliosids prevail. But recently this difference is regarded to hold only quantitatively. Therefore we have to look for genetical proofs of the independence of these two lipidosis. An observation ofvan Bogaertin his famous pedigree of the family Mi. and another less convincing ofDriessenshow that among the children of the same parents cases of both these lipidosis can appear. Since both these families are of Russian respectively Polish-Jewish origin, coming from a not very big area in which these lipidosis were found relatively very often, these two instances also could be explained by mere coincidence.

Our Swiss cases which all happened in families of non Jewish origin do not show sibs the one of whom had M. Tay-Sachs and the other M. Niemann-Pick, nor were combinations of both lipidosis observed. Unfortunately excepted one, namely that ofBaumann, Scheidegger & Klenk, none of our cases has been examined with all the modern methods. These 3 specialists established the theory that we deal in the M. Niemann-Pick and M. Tay-Sachs with specific cellular dystrophies and not an overloading of the blood with certain lipids, as was supposed byPick: For, all values of blood-chemistry, principally of the total amount of fatty acids as well as of cholesterol and of anorganical phospor used to be normal in the serum of those patients. The data published byU. Pfändlercould become disguised as rare exceptions or consequences of alterations in a no more fresh serum. His conclusions with regard to the pathogenesis and the way of hereditary transmission cannot become adopted neither for the adult, nor for the infantile forms of Niemann-Pick.

The facts found by us and others clearly speak in favour of asimple-recessive transmission, at least for the infantile forms of M. Niemann-Pick, the same has been proved by us for M. Tay-Sachs.Videbaekspedigree with parents of the 2 children with M. Niemann-Pic being first cousins, is not to be interpreted otherwise. Of our Swiss families with M. Niemann-Pick 3 contain each 2 fraternal and 3 isolated cases; parental consanguinity was found 4 times but not very close though 5 of these families come from isolates. The gene concerned therefore cannot be too rare. Like the other authors we did not observe secondary cases in collateral lines. The oldest of our patients reached the age of 3½ years. There is no higher incidence of other hereditary diseases, especially with regard to metabolism, in our 6 Swiss families.

From the clinical standpoint there is to mention that 4 of our 5 cases studied in detail showed the typical red spot in the region of the macula retinae; one case showed a complete atrophia nervi optici and another an atrophy of the temporal parts of the papilla nervi optici. In most cases a demencia or «imbecility » was noted, a fact which suggests the participation of the brain in the processus of the specific thesaurismosis. Unfortunately, however, the brain has but once been examined with the modern histochemical methods.