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SOME FAMILIAL AND HEREDITARY FEATURES
OF AMAUROTIC IDIOCY.
BY ISADOR H. CORIAT, M. D., Boston, Mass., First Assistant Visiting Physician for Diseases of the Nervous System,
Boston City Hospital. Within the last few years, a study has been made of 12 families in which occurred cases of amaurotic idiocy, in order to determine, if possible, the hereditary, familial and social features of the disorder with the hope that perhaps such a study would help to solve the much discussed and important question of the nature of the disease process and its racial psychopathology. My former studies on amaurotic idiocy have been limited to its clinical aspects and to a discussion of some new symptoms of the disease, particularly certain reflex phenomena which were interpreted as being produced by the removal of inhibitions in the central nervous system caused by extensive destruction of the neuro-fibrils. The racial psychopathology of the disorder, its practical limitation to children of Jewish parentage and the social aspects of the disease, open up problems which have been very difficult of solution. It was with the idea of contributing to a new theory of the disease, based upon a conception of organ inferiority, that the following study was undertaken.
The following is the outline of the 12 families studied, nearly all of which have been seen and examined in person.
FAMILY HISTORIES IN AMAUROTIC FAMILY IDIOCY. FAMILY I.–The father and mother are Russian Jews. Father nonalcoholic and non-syphilitic. Maternal grandfather, a Russian Jew, became blind at 30, before birth of the mother. Maternal and paternal grandparents otherwise healthy. No consanguinity of parents. Later the mother showed symptoms of hyperthyroidism, but in time this disappeared and she developed a typical neurasthenia.
* Isador H. Coriat: Amaurotic Family Idiocy, Archives of Pediatrics, June, 1913. Some New Symptoms in Amaurotic Family Idiocy, Boston Medical & Surg. Journal, July, 1915.
* The cases in Families V, VI, X, XI and XII are from the Neurological Clinic of the Children's Hospital.
Children in family, 6.
5 and 6. Twins (boys) born after death of the amaurotic idiot, showed no signs of amaurotic idiocy even after repeated examinations, and at the cge of two, remained normal and healthy with normal fundi. An analysis of a specimen of the mother's milk showed it to be r.ormal in chemical composition. No miscarriages and no children have died except the amaurotic idiot, who died suddenly from bulbar paralysis. All the children were breast fed.
FAMILY II.-Father and mother, Russian Jews. Mother was 24 years old when the patient was born, father 33. Father has been nervous concerning business matters. Maternal and paternal grandparents healthy. No consanguinity or nervous or mental disease in family.
Children in family, 3.
3. Boy, 17 months, amaurotic family idiocy. All the children were breast fed.
FAMILY III.–Father and mother, Russian Jews, healthy, no consanguinity, no syphilis. All the grandparents healthy. Maternal granduncles are brothers. The maternal granduncle (mother's father's brother) had a son who died from amaurotic family idiocy (the boy in Family II) and is therefore a second cousin to the girl in Family III, who had the same disease.
Children in family, 2.
FAMILY IV.-Father and mother are Russian Jews. Mother neurotic. Father a weakling. No miscarriages of mother.
Children in family, 5.
3. Boy, 14 years, feeble-minded, juvenile delinquent, stammering, disseminated choroiditis.
4. Boy, died at 21 months of amaurotic family idiocy and hydrocephalus.
5. Boy, died at 20 months of amaurotic family idiocy, hydrocephalus and rickets. The two boys with amaurotic family idiocy were both born in America.
FAMILY V.– Father and mother, Russian Jews, healthy. All the children breast fed.
Children in family, 8.
One boy died at three weeks, not blind. Two boys died at one year, blind (amaurotic family idiocy?). Boy, amaurotic family idiocy, died at the age of 15 months. Ages and sequence of the other children unknown.
FAMILY VI.–Father and mother healthy. No consanguinity. A second cousin on father's side was a case of dementia præcox with hysterical episodes.
Children in family, 2.
FAMILY VII.-Maternal and paternal grandparents healthy. Father, syphilitic and died of tuberculosis. Mother, hysterical. No consanguinity. Ancestors born in Russia, the others in America. All the children were breast fed.
Children in family, 5. 1. Girl, 13 years, healthy. 2. Girl, 7 years, healthy. 3. Boy, died of amaurotic idiocy and also had a probable cretinism. 4 Boy, typical amaurotic idiocy and rachitis.
5. Girl, apathetic, had optic atrophy with strange position of optic nerve, partially blind.
FAMILY VIII.-Father and mother Polish Jews. No consanguinity. The family history concerning nervous and mental diseases is negative.
Children in family, 4.
The mother had three children by first husband, one boy and two girls, all healthy. Mother highly myopic. Husband also married twice, no children by first wife. Patient (a boy) was a typical case of amaurotic idiocy and is the first and only child by second marriage. Breast fed.
FAMILY IX.-Father and mother and all the ancestors are Russian Jews. Maternal grandfather died of heart trouble. No nervous or mental diseases of father, mother, grandparents, uncles, aunts or cousins.
Children in family, 3.
Only two children in family (boy and girl) both of whom had amaurotic family idiocy.
FAMILY XI.—No consanguinity of parents and no nervous or mental disease. Russian Jews. All the children were breast fed.
Children in family, 7.
One died at 27 months of amaurotic idiocy. Within three years, twins were born, one (a girl) at one year showed typical amaurotic idiocy, the other twin (a boy) was perfectly healthy. The other four children were healthy.
FAMILY XII.-Children in family, 4.
Four children. Two healthy. Twins (one boy) had amaurotic idiocy, the other boy died soon after birth, cause unknown.
An analysis of these 12 families reveals some interesting material. There were 51 children in all. The pathological cases in both the adults and children, may be grouped as follows:
Amaurotic family idiocy, 15 cases.
If we add to the 15 genuine cases of amaurotic family idiocy the cases of optic atrophy and also the child who was blind at the time of its death when one year old, as being in all probability the same disease, we have 17 cases of amaurotic idiocy out of 51 children, or 33-3 per cent.
The outcome and clinical features of some of these cases of amaurotic idiocy, where it was possible to study them over a long period of time, presented certain points of interest. The disease was nearly twice as frequent in males as in females, in the proportion of u boys to 6 girls. The course of these cases, in the various families designated, is as follows:
FAMILY 1.-(Girl.) Hydrocephalus, abnormal reflex phenomena,' bulbar symptoms, nystagmus, typical fundus changes, rigidity of limbs, emaciation. The child died suddenly when 23/3 years old of bulbar paralysis.
FAMILY II.—(Boy.) Typical case with normal reflex phenomena. The child died at 20 months of emaciation and broncho-pneumonia.
FAMILY III.-(Girl.) The child was still living at the age of 18 months, but had grown feebler and shown marked rigidity of the limbs.
FAMILY V.-(Boy.) Typical case. Died at 15 months, cause unknown.
Family VII.—(Boy.) Typical case with atypical fundus changes (optic atrophy with grayish-purple area in the macula) and constant nystagmus. The child was living at the age of 372 years, but was markedly rachitic. The other child in the family, a boy, died of marasmus, while the sister was living at the age of 2/2 years, but was apathetic, had an optic atrophy and was partially blind.
* For description of these abnormal reflex phenomena, see my paper, "Some New Symptoms in Amaurotic Family Idiocy," loc. cit.