Mongolism

MONGOLISM (syn.: mongoloid idiocy, mongoloidia) refers to a group of oligophrenias and is characterized by mental retardation, a distinctive somatic syndrome, and facial features resembling those of the Mongol race. This disease was first described in 1866 by Langdon Down and occurs mainly in childhood. The etiology and pathogenesis of M. cannot be considered clarified. There are many theories. A number of authors (Gallo, Stevens) maintain the importance of syphilis as an etiological factor, citing serological data—positive RW reactions in almost all mongoloids. Dollinger, Orel, and others, however, obtained entirely negative reactions. Others emphasize the importance of physical trauma during pregnancy; however, during the war, when pregnancy proceeded under unfavorable conditions for mothers, the number of M. cases increased only slightly. The difference in age of parents has been indicated, but the latest summary by Maclin indicates average ages: for fathers 39.7 years, for mothers 34.3 years—a difference not significant. Recently, the theory of Shutt-leworth about the exhaustion of mongoloid mothers has gained the greatest recognition. This author notes that M. usually occurs in large families, with mongoloids being born last or from mothers of advanced age when the mother's organism is already exhausted. Thus, according to Shutt-leworth's data from 271 mongoloids born in families with more than 6 children—60% were born last in the family, 14.4% were firstborn; according to Gallo, out of 94 cases—8 cases were firstborn, the majority from the sixth, seventh, etc. pregnancy; the age of mothers was mostly over 40 years. In contrast to this, it must be pointed out that according to the data of Brushfield and others, a mongoloid is not always the last child; there are many cases where after a mongoloid mother gave birth to 2, 3, even 7 healthy children, which poorly fits with the exhaustion theory. Finally, the data that mongoloids are born late in the family must be statistically supported. As for the question of the genotypic nature of M., it is necessary to emphasize that even in the latest manuals it is indicated that M. is not a hereditary disease. Previously, the fact of intrafamilial M. was also denied, but at present, a large amount of material has been collected in this direction (German, Stevens, Orel, Pogorschelsky, Chotzen, Babonneix, etc.). The most convincing data in favor of the genotypic nature of M. are provided by studies of mongoloid twins. If all the above-mentioned factors (syphilis, exhaustion of mothers, etc.) were actually the etiological factor, then both twins, at least in the vast majority of cases, should have been mongoloids; meanwhile, it turns out that only in identical twins does M. occur in both (although not always here either). Out of 28 twins examined by Halbertsma, Orel, Strauch, and others—14 were of different sexes, i.e., fraternal, and 14 were of the same sex, i.e., identical. In the first group, M. was present in only one of the twins; in the second group, in 9 cases one twin was affected, in 4 cases both, in one case it was unclear. In Maclin's work, among 25 same-sex mongoloid twins, in 5 cases both had M., and among 17 different-sex twins there was not a single case. From this it is clear that in the etiology of M., exogenous factors are not decisive, but the genotype. The nature of inheritance is not yet known. Maclin thinks of complex polymerization with a combination of recessive and dominant factors. Stolzner attempted to connect the endocrine theory with heredity; he notes that out of 10 mothers of mongoloids, three had clear signs of hypothyroidism; Dollinger, however, found in mothers not hypo-, but hyperthyroid phenomena; Clark also speaks of hyperthyroidism in mothers. Pathological anatomy. In M., various lesions of the endocrine glands are noted. Thus, according to Vas, there are sclerotic changes in the thyroid gland with atrophy of epithelial cells and proliferation of connective tissue, atrophy of the adrenal cortex (it is appropriate to recall the parallel underdevelopment of the brain and adrenal cortex). Timme in 23 out of 24 cases established by X-ray changes in the area of the pituitary gland (mainly the anterior lobe), explaining subnormal growth and hypogenital phenomena. Krepelin notes thymus persistens in M. Most likely there is a picture of pluriglandular insufficiency, which is only part of the general developmental delay, why M. can be classified as a group of oligophrenias. Patho-anatomical data definitely indicate a delay in brain development. The brain is small, there is poverty and flattening of the gyri, unclear structure of the cortical layers, in general the type of brain resembles embryonic; in addition, there is a sparse number of multipolar cells in the cortex and proliferation of neuroglia. Sheer in 18 cases of M. notes hypoplasia of the infundibular region, floor of the third ventricle, subthalamic region, corpora mamillaria and pituitary gland—in short—areas of diencephalon and mesencephalon, i.e., the 'center of endocrine glands and the autonomic nervous system'. Distribution. M. occurs in all countries, among all nations, most often in England, and both sexes are affected equally. M. constitutes 3-10% of the total number of idiots. For Russia, Kovalevsky gave the following figures: 10% - Leningrad, 25% - Kazan, emphasizing the presence of Tatar population in the latter case. The number of M. cases has increased in recent years and according to some data amounts to 23-50% of all admitted mentally retarded children (Stolzner, Vas). It must be assumed that these authors diagnose mongolism too broadly. Symptomatology. Somatically, patients with M. are extremely similar to each other; this similarity decreases with age. If we divide the numerous symptoms in M. into main (mandatory) and additional, then the main ones should include the following triad: Mongolian type of face with obliquely set eyes, macroglossia, with the tongue often having the appearance of the so-called lingua geographica (see figure), and hypotonia of muscles with hyperextension of joints. Additional symptoms: some retardation in growth, delayed ossification of the skull and long persistence of sutures and fontanelles; other ossification processes are satisfactory; in addition—microbrachycephaly, a flattened occiput, prognathism, the third eyelid (so-called epicanthal fold), delayed teething, widely spaced eyes, a small nose with a button-like end, a flush on the cheeks, microtia (deformity of the auricle, attached lobes, overhanging upper part of the auricle), shortened fingers, especially the thumb and little finger (the latter often shortened and curved; X-ray reveals atrophy of the second or terminal phalanges); hair on the head is quite abundant and soft. In addition, there is a tendency of the skin to eczemas (especially characteristic is the peeling eczema on the cheeks), eyes to blepharitis, often strabismus, nystagmus, cataract; speech is poorly developed or not at all, facial expression is poor, the muscular system is flabby, movements and gait are awkward, there is a fondness for sitting 'Turkish style'; in the lungs—often harsh breathing, dry rales. There are no focal symptoms. In the blood—decrease in the number of red blood cells, increase in white blood cells. The presence of numerous malformations both in patients and in their families is characteristic: syndactyly and polydactyly, cleft palate, hypospadias, keratoconus, atresia of the anus, ektopia vesicae, clubfoot, cardiac anomalies (open ductus Botalli), etc. Mentality. The mood in most is slightly elevated; no wonder mongoloids were called 'sunny nature'. Emotional life is primitive but quite adequate to stimuli: displeasure is rarely expressed and disappears after elimination of causes. There is great greed for new impressions, the so-called 'imbecilic neophilia', hence in particular the false impression of sociability. Mongoloids possess the necessary primitive life skills, are relatively neat and clean. In early childhood, they love to look at their own fingers, and in case of displeasure they hit themselves on the head. There is no developed speech in them, speech consists mainly of gestures. Along with the imitativeness noted by all authors (which can partly explain the musicality in most mongoloids), it is appropriate to emphasize the active ability to imitate, with patients selectively imitating what gives them obvious pleasure. The tendency to imitate, inclination to the comic, great mobility and flush on the cheek give these patients the appearance of 'clowns'. As for the intellect in the proper sense of the word, all transitions from complete idiocy to retardation are observed, and Weygandt cites a case even with normal intelligence; therefore the name 'mongoloid idiocy' does not always reflect the essence of the disease, and it is preferable to speak of 'mongolism'. In most, there is an inability to analyze, compare, generalize; patients not only do not know how to count, but generally do not understand the mechanism, meaning of counting, although due to the ability to imitate, by manipulating objects, they repeat 1, 2, 3, etc. Active attention is lively but unstable, while passive is very poor. Memory for impressions of everyday life is preserved; they are oriented in space and time.

In the area of elementary sensations, there are no defects. Due to a slightly elevated mood, associated with psychomotor liveliness on one hand and mental retardation on the other, the psychic state in these patients can be characterized as 'eretic retardation'. Forms of the disease. Sereysky distinguishes two clinical types of Mongolism: 1) with predominance of hypothyroid phenomena: severe retardation in growth, thick and dry skin, puffy face, swollen abdomen, marked umbilical hernia, etc.; from the psychic side - eretic retardation; this is the predominant type; 2) with predominance of hypogenital phenomena (cryptorchidism, absence of secondary sexual characteristics, absence or underdevelopment of the upper lateral incisors, etc.), with predominantly indifferent mood, lack of interest in surroundings, with elements of torpidity (torpid retardation). It is important to note the existence of mild forms; the number of such patients has recently sharply increased. - The course is non-progressive. The disease is detected in the first weeks, and sometimes in the first days after birth. The first 2-3 years in these patients are characterized by elements of torpidity, and only later do most of them become more active; this transition creates in parents a false impression of developmental progress. Patients are characterized by great intolerance, especially to infections and most often to tuberculosis: 15% die without reaching the period of puberty; on the other hand, cases have been noted where patients lived long (up to 50-60 years). The diagnosis in general presents no difficulties. The greatest difficulties are encountered in differentiation from myxedema (Virchow classified mongolism as sporadic cretinism, i.e., myxedema); but here also there are a number of differential signs. Thus, the head in myxedema is large, in Mongolism - small; in myxedema - soft hair, deep nasal bridge, edematous face, dull facial expression, short neck, poor palpability of the thyroid gland, delayed development of ossification centers; in Mongolism - microcephaly, hair is coarse and falls out, facial expression is not so dull, there is no facial edema, in addition there are 'Mongolian' eyes, lingua geographica, hyperextensibility of joints. - Treatment in general is little satisfactory. The best results are observed from the use of thyroidin, which acts on the hypothyroid signs, which are one of the links in the complex picture of mongolism. Sereysky observed some success in regard to growth, abdominal distension, hernia, constipation, ossification and even speech. Recently, Wieser has persistently recommended radiotherapy, mainly irradiation of the pituitary gland. The author notes an increase in growth by 5 cm per year (in untreated control children - only by 2.5 cm), the skin becomes cleaner, patients look as if 'washed' (Wieser); they become less eretic, and even the intellect apparently becomes better. Since Wieser, along with irradiation of the pituitary gland, uses irradiation of other endocrine glands and the spinal cord, etc., and in addition organotherapy and very vigorous educational measures, it is difficult at present to decide to attribute the therapeutic success to what, but treatment by this method deserves attention and verification.