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FAMILY VIII.-(Boy.) Typical case. The child died at the age of 1/3 years, cause unknown.
FAMILY IX.-(Girl.) Typical case with abnormal reflex phenomena and lateral nystagmus. The child died at the age of 134 years, much emaciated.
It will be noted that emaciation and marasmus was a frequent feature of the disease as a terminal disorder and in a large majority of cases, was fatal in its outcome.
It is very doubtful if genuine amaurotic family idiocy, according to my experience, can be found among Christian children, or if so, it is so rare, that it is extremely improbable that one-third of Christian children in the families in which the disease is alleged to have occurred, could suffer from the disorder, as in the Jewish families. The cases in non-Jewish children are far less characteristic than in Jewish, in that the eye findings are less typical and in many instances the diagnosis remains doubtful.
Out of 86 cases amaurotic idiocy collected by Vogt' there were 61 Jewish cases, seven Christian cases, while in 11 cases, the race was not designated. One of the Christian cases, a girl 11 months old, showed an autopsy tubercles of the corpora mamillaria and tuberculosis of the internal organs, this limiting the cases occurring in non-Jewish children to six. In a case recorded by Williams,' the clinical pictures of amaurotic idiocy was simulated by a tumor of the interpeduncular space. In the cases reported by Wandlesso occurring in an Irish family, the findings rendered the diagnosis of amaurotic idiocy extremely doubtless, since the onset was late, at about eight years of age, the changes in the macular region were not characteristic, while the cytological alterations were not typical of the disease.
The results in Mongolian idiocy are exactly opposite, for instance out of 37 cases of Mongolian idiocy, in only three of these were the parents Jewish. The largest number of cases of Mongolian idiocy seem to occur in children of Irish birth or descent.
*Heinrich Vogt: Ueber familiare amaurotische Idiotie und verwandte krankheits bilder, Monat f. Psychiatrie und Neurologie, August, 1905.
'E. C. Williams: British Journal of Children's Diseases, October, 1907.
*H. W. Wandless: Amaurotic Family Idiocy, New York Medical Journal, May 8, 1909.
In all the families in which amaurotic idiocy occurred, there was a strong neuropathic on psychopathic background, in the form of juvenile delinquency, stammering, disseminated choroiditis, dementia præcox, hysteria, syphilis and tuberculosis, although concerning the two latter, none of the cases of amaurotic idiocy could be said to be tubercular or syphilitic in origin.
Now what is the cause of this disease and why does it seem practically limited to Jewish families, particularly to those families which have been subjected to persecution with its attendant emotional strain. The disease occurs not only in the immigrant Russian Jew in America and England, but is likewise reported from Russia itself.' In none of the families studies was there any history of consanguinity.
The pathology of the disease seems to offer the best explanation for its nature and origin. In amaurotic family idiocy the cells are large, pale and swollen, practically the same cytological changes as are found in Cajals fætal cells, which can be demonstrated in post-embryonic life in idiocy, juvenile paresis, congenital syphilis and in certain familial types of infantile spastic paraplegia. These cells appear in the cortex from the third to the fifth fætal month. As early as the sixth fætal month, they begin to show regressive changes, until in the last month of fætal life and in the brain of the newly-born, they have completely disappeared.'
In a careful anatomical study of a case of amaurotic idiocy, Naville calls attention to the fact that the brain was of the fæetal type. This was shown by the poverty of the white substance in relation to the gray, and in addition, the myelinization of the brain was that of a fætus of from 6 to 7 months.
However, in the organic brain diseases already indicated they persist, and the cell changes in amaurotic family idiocy strongly
'See on this point the six cases described by Kowarski (Jahrbuch f. Kinderheilkunde, July, 1912) from Wilna, Russia. He states that 21 cases in all have been reported from Russia.
8 Joseph Gortsmann: Beitrag. zun kentniss der Entwicklungs, storungen in der Hirnrinde bei genuiner Epilepsie, Idiotie, juvenile Paralyse und Dementia Præcox, Abr. a. d. Neurol. Inst. der Wiener Universitat, Bd XXI, H. I. 2: 1914.
'F. Naville: Etude Anatomique du Névraxe dans un Cas d'Idiotie Familiale Amaurotique de Sachs-Schweizer Archiv. für Neurologie und Psychiatrie I, 1917.
resemble the persistent foetal cells of Cajal. So the child born with these persistent fatal types of cells, is, from the neurological standpoint, an under-developed child, it possesses an inferior nervous system and this nervous system is unable to withstand the various stimuli which are suddenly poured into the brain of the newly born infant through the various senses and from contact with a new environment. As a consequence, after a certain time, there follows a rapid deterioration. In other words, the disease is developmental, arising on the basis of an inferior brain. Obersteiner " has shown, that the anatomical findings in hereditary ataxia, amaurotic idiocy and other nervous diseases, are also developmental in nature.
The relation between amaurotic idiocy and other familial diseases of evolution is clearly shown in the Jewish family of four sisters reported by Higier, in which there were two cases of essential optic atrophy, one case of the cerebellar ataxia of Marie with an optic nerve atrophy and one case of amaurotic idiocy with the typical macular changes. There was no consanguinity and no history of syphilis.
Why amaurotic idiocy should be practically limited to Jewish families, is very difficult to understand, unless we assume that the Jew possesses certain racial characteristics of organic inferiority through which he differs from the non-Jew. Whether or not the Jew is a racial unity, has been the subject of long and hair-splitting controversy and is by no means settled. From the standpoint of physical anthropology, it has been claimed by some that the Jew does not conform to any one racial type, that he is merely a diversified group bound together by a common faith, whereas others state that the Jew is a distinct psychic unity, which alone can be taken as a safe criterion of any race.
In amaurotic idiocy, the inferior organ is the brain, particularly the visual system. As a rule, there is a strong background of neuropathic and psychopathic tendencies in all these cases, so much so, that in certain of the offspring, something is lacking, in other words, in a Mendelian sense, amaurotic family idiocy is a recessive disease. Since the germ cell is the carrier of hereditary traits, therefore in these cases, the cell fails to carry something and consequently the brain with its neuronic architecture, becomes an inferior organ. Not all the children have the disease, some in the family escape, while the afflicted ones are born with an inferior brain. The high percentage of amaurotic idiocy in Jewish families is probably due to the fact that the Jew possesses a greater tendency to special types of organ inferiority in the central nervous system than the non-Jew. Why one twin should have the disease and the other be free from it (as in Families XI and XII) can be explained on the basis of binovular pregnancy, whereas if the pregnancy were uniovular, the twins would either be free from the disease or both would have it.
19 Obersteiner: Die Bedeutung des endogenen Factors für die Pathogenese der Nervenkrankheiten-Neurol. Centralblatt, Bd. 34: 1915.
Adler's work on organ inferiority seems in its various methods of approach, to offer the best theory of the disease. As stated by Adler:
I lay stress on the fact that organic inferiority includes incompleteness in such organs, the frequently demonstrable arrests of development or functional maturity, the functional failure in the post-fætal period and the fætal character of organs and systems of organs. With the release from the maternal organism there begins for these inferior organs or systems of organs the struggle with the outside world, which must of necessity ensue and which is initiated with greater vehemence than in the more normally developed apparatus. This struggle is accompanied by greater mortality and morbidity rates."
A certain probability, which is in accord with biological conditions, would have it appear that fundamentally just the most highly developed differentiated cells and cell complexes have come out the worst, while the tissues of lesser capacity, which owe their development to an earlier embryologic epoch, may be normally or even supernormally developed. .... But just as often, perhaps the hour comes when the insufficiency of the organ is revealed, when the external and internal hindrances can no longer be controlled. The normal structure and wear and tear of the organ give place to regressive phenomena, which are just as much determined in their nature by the morphologic inferiority of the organ, as by the special causes setting the disease in action. .... Organic nerve diseases, however, are, according to our premises only special cases in which the localized inferiority is inclined to inflammatory or degenerative transformation."
The theory that the disease is due to an organic inferiority of the central nervous system, harmonizes with Shaffer's conception
Alfred Adler: The Neurotic Constitution, 1917. 12 Alfred Adler: Study of Organ Inferiority and its Psychical Compensation, 1917.
in his painstaking studies of the disorder. According to Shaffer, the wide extent of the pathological process and the primary character of this disease point to a subnormal development of the nervous system, which tends to degenerate when called into function. One of the most striking features of the disease is that neither vascular nor infectious processes play any part in its production, neither is there any evidence for the assumption of an auto-intoxication or a polyglandular disorder.
This theory of organic inferiority has also been recently utilized to explain some of the perplexing problems of paresis." Here however, we are dealing with a parenchymatous syphilitic infection of the nervous system, while in amaurotic idiocy, so far as we are able to judge from clinical and pathological material, a toxic or infectious origin may be eliminated. Concerning this application of Adler's conception to the problem of paresis, Osnato states as follows:
It has for many years puzzled psychiatrists and other clinicians, why it is that of the great number of persons who are infected with syphilis, only a few, probably less than 3 per cent of the total number of syphilitics, eventually end as paretics. If we, therefore, postulate in these patients the presence of a defect in the nervous system, particularly the brain, which exists either as an hereditary or acquired weakness, then Adler's conception of organic inferiority helps to explain the problem. Adler conceives that the neurotic is somatically inferior, also that this inferiority affects more than one organ and that, as an overcompensation medium, the central nervous system is always involved. In other words, if one can prove before the onset of his psychosis, the psychotic patient is practically always a neurotic, then we can go further and say that paresis has developed in him because the central nervous system is an inferior organ and the inferiority seems to determine the location of the characteristic destructive process caused by his syphilitic infection.
In amaurotic idiocy we are confronted with a similar problem. The entire central nervous system of the potential amaurotic idiot at birth is an inferior organ, as shown by the fact that the characteristic morphological changes of the disease are found not only in the cells of the motor cortex and in the Purkinje cells
K. S. Schaffer: Zur Pathogenese der Tay, Sachs' schen amaurotischen Idiotie, Neurol. Centralblatt, 1905.
* Michael Osnato: Personality in Paresis, Journal American Medical Association, Vol. LXX, No. 7, Feb. 16, 1918.