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THE Mongolian Syndrome Was Recognized As Discussed Later, The MONGOLISM 495- Nov.No.13]WRER1935] WARNER: OGLS 9 A SITRVEY OF MONGOLISM, WITH A REVIEW OF ONE HUNDRED CASES* BY ELIZABETH N. WARNER, M.D., C.M., Toronto rela- was as tends to be straight, the normal curves developing THE mongolian syndrome recognized tively late. Muscular weakness may result in the develop- a clinical entity by Langdon Down in 1866. ment of dorso-lumbar kyphosis in the older child. There in The condition is not uncommon, as the Presby- is a generally relaxed state of the ligaments, which, association with the marked hypotonicity of the muscula- terian Hospital in Chicago has given the figures ture, gives rise to an extreme degree of hyperflexibility, of 6 mongols in a series of 3,818 births over a enabling the child to assnme and rest for long periods of time in extraordinary positions. Muscular development six-year period, and the records of the Hospital is delayed and deficient, and such defects as umbilical for Sick Children in Toronto over a period of hernia, cryptorchidism, patent foramen ovale, syndac- tylism, and Darwinian tubercles are common. sixteen years include 125 mongols out of 98,510 total admissions. Extraordinarily little is known Apart from the skeletal peculiarities, to be about mongolism, its etiology, and its pathology. discussed later, the hands frequently show two There are certain features that are suggestive variations from the normal for which no ade- of either thyroid or pituitary dyscrasia, particu- quate explanation has been offered. Penrose, larly the former, although the evidence is in a study of 60 cases of mongolism under his contradictory, and the typical mongol presents care, observed that in 16 of hi's series there was some features characteristic of cretinism to- a departure from the normal arrangement of gether with other features ordinarily associated the creases on the flexor surface of the little with the hyperthyroid individual. The failure finger; instead of the normal three transverse of the mongol to respond to glandular therapy, creases on this finger these mongol hands however, lends weight to the view that the con- showed onlv two, although the correct number of dition is a general failure in development rather phalanges was present. In the anomaly de- than a specific endocrine dyserasia. Many of 'scribed a new crease, usually double in character, the usual characteristics of the mongol are takes the place of the distal and medial creases common in other type's of mental defectives, and, and lies between the distal and proximal inter- as Tredgold has said, "It is necessary to re- phalangeal joints. In half of the cases re- member that mongolism consists in a peculiar ported the anomaly was unilateral. Several combination of anomalies rather than in ano- authors have reported a somewhat similar ano- malies which are distinctive in themselves." maly of the palmar lines, the usual two main a The typical mongolian imbecile is a short, stout, transvetse creases being replaced by single brachycephalic child. The occipito-frontal circumference line. This was found in approximately half of is usually less than the normal, probably due to the and flattened occipital region; the brow is of normal shape, the reported cases in which it was sought, in contrast to the frontal and supra-orbital recession seen is said to be common also in the mixed and in other small-headed types of aments. The eyes are mongolian races and low caste people slanting and widely spaced; epicanthus, nystagmus and higher strabismus are common. The nose is of the saddle-back of Annam and Indo-China. It is also found type, although it is not identical with the flattened bridge occasionally in quite normal persons, and there of the congenital luetic. The ears are frequently lobe- less. The mouth is commonly held open, and the thick is no correlation with the degree of mental grooved tongue protrudes. The hard palate is narrow development. and arched, and the naso-pharynx small, frequently being encroached upon by the projection forwards of one of The osseous system shows both generally the cervical vertebrae. The neck is short and thick. The tardy development and certain specifically skin is very elastic, soft and velvety in the infant, in the older mongol it becomes dry and rough. The hair tends -mongoloid features. The most constant of the to be straight, dry, and sparse. The extremities are short latter is the peculiar deformity of the fiftlh and stubby. The characteristic short skeleton of the mongol is due to this shortness of the long bones, rather finger, the mid-phalanx being shortened and than to alteration in the length of the vertebral column, the terminal phalanx bent towards the fourth and the irregularities of growth characterizing cretinism and achondroplasia are absent in the mongol. The spine finger, so that the fifth finger forms a kind of arch. This deformity may also be found as a * A paper read before the Section of Pathology, Academy of Medicine, Toronto, March 26, 1935. dominant hereditary character apart from mon- 496 THE CANADIAI.Z AUDICAL ASSOCIATION JOURNAL [Nov. 1935 golism. Orel reports a family in which the mongol tends to resemble the hyper- rather curved and shortened fingers were found in than the hypo-thyroid type, being excitable and four generations, affecting a woman, her son, restless, and thyroid treatment does not im- six of his eleven children, and two offspring of prove the condition of the pure mongol, the one of the affected members of the third genera- chief effects of such therapy being the disap- tion; one member of the family was a mongol. pearance of fatty deposits and the increase of Typically, the mongol 's thumb is also shortened, any malnutrition that may be present. One and the hand as a whole is stubby. series of six cases is reported in which all of On account of the wide variation within the patients had basal metabolic rates above normal limits of the time of appearance of the the normal, but some have low basal rates, different centres of ossification it is unsafe to while the great majority reported are within be dogmatic about the question of delayed normal limits. A few cases have been reported skeletal development. However, there seems to of mongolism coincident with definite endocrine be general agreement among the writers upon disease. Gordon, in an article on childhood this topic that there is some definite retarda- myxoedemas, stated that "Infantile myxcedema tion. Closure of the fontanelles and sutures of may be associated with mongolian idiocy, pre- the skull, particularly the frontal suture, is senting a composite picture of both diseases. usually delayed. Occasional evidence of slow The mongolian element is present at birth, osseous growth is seen in the appearance of while the thyroid dyscrasia symptoms appear extra-epiphyseal nuclei at the proximal ends of within a few weeks or months", and he con- one or more of the metacarpals. The failure of cludes that "there is probably no relationship these nuclei to appear in normal persons is ex- between the two diseases, but a coexistence of plained osteogenetically on the ground that a both may be present. Whatever mongolian proximal epiphyseal nucleus is always present idiocy is due to, it is not primarily nor funda- in the primitive formation but that the epi- mentally a form of myxcedema." Collier has physeal line is normally reached by the ossify- reported a case of mongolism and cretinism in ing diaphysis before it has time to attain to an one family. The first child was a mongolian independent formation. Occasionally there may imbecile, the next was a dead fetus with greatly be two isolated osseous nuclei close together in enlarged head; the third and fourth children, the distal ulnar epiphysis. This usually occurs of the same mother but a different father, were between the sixth and the middle of the eighth a normal infant and then a cretin. A two year year but has been observed radiographically in old child at St. Mary's Hospital for Children a mongolian imbecile, thirteen years of age. showed most of the usual features of mon- Pennacchietti and Fuhry both refer also to the golism, and also some definitely cretinoid presence of a hyperealcified border at the end characteristics, and was markedly improved by of the joint cartilages, a sign which likewise thyroid therapy. One case has been reported exists in athyrosis. Dentition is also prone to of a typical mongolian imbecile female who, at occur after the normal time. This is particu- the age of 33, began to gain weight in spite of larly the case with respect to the permanent thyroid treatment, and subsequently showed teeth, and is regarded as evidence of tardy ab- the other signs characteristic of Fr6hlich 's sorption of the roots of the deciduous teeth, so syndrome. that the first and second dentures coexist. Mentally, the majority of mongols belong to Enamelization of the teeth is generally poor, the imbecile class, Tredgold states that many with consequent early decay. are feeble-minded, a few are idiots, but of the General retardation of skeletal growth and 206 cases whose intelligence quotients are re- fusion is likewise seen in cretinism, as are the ported by Brousseau and Brainerd only 1 per short thick neck, widely separated eyes, pro- cent fall into the moron class, while 61 per cent truding tongue, deposits of fat about the neck are imbeciles and 38 per cent idiots. The and back, umbilical hernia, dry skin, and highest intelligence quotient in their series was mental deficiency. The mongol tends to be 66, the lowest was 7. Barnes reported the case normal in size during the first year of life and of a mongol boy who was able to complete a relatively short thereafter.
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