Cretinism

CRETINISM, endemic. The etymological meaning of the word "cretinism" has not yet been fully clarified. Ackermann connects it with the Romance word "cretira"—a wretched creature; other authors derive it from the Old French "chrétien"—a derogatory term from the times when Christianity was considered a superstition. It is also possible that cretinism comes from the Latin "creta" (chalk), since cretins have a face as pale as chalk. Definition of the concept: Endemic cretinism is a variegated somato-psychic symptom complex in which cretinism, i.e., a delay in psychic development, is combined with endemic goiter and endemic deaf-mutism, and which is encountered predominantly in mountainous regions and on plateaus. This disease usually develops at the end of the first or at the beginning of the second year of life. The geographical distribution of endemic cretinism generally coincides with that of endemic goiter and deaf-mutism (see Goiter). However, this circumstance, which until recently did not cause doubt, is now undergoing partial revision, as it is known that there are foci of endemic goiter in places where there is no cretinism (North America, Norway, Holland, Egypt, New Zealand). But even where cretinism is widespread in goitrous regions, the geographical boundaries of cretinism turn out to be narrower than the boundaries for goiter. For example, in Vienna, a fairly large amount of goiter and an almost complete absence of cretinism have been discovered. The appearance of an endemic of cretinism has been described in localities where there was previously no goiter.

Etiology of endemic cretinism. The fact that in the same endemic areas, alongside families affected by cretinism, there are completely healthy families, indicates the probable role of hereditary predisposition in the etiology of endemic cretinism. The question of the hereditary nature of cretinism was raised by Fodéré as early as 1792. Among the most recent authors, one should mention Kutschera, who noted that among Tyrolean cretins, over 50% had brothers and sisters burdened with this disease. The fact that among monozygotic twins both twins are usually affected by this disease also speaks for the hereditary origin of endemic cretinism (Siemens, Weitz, and Taussig). One of the proofs of the role of the genotype in the origin of a particular trait (in the case where recessive factors are involved) can always be the large number of consanguineous marriages in the place where this trait is distributed. For endemic cretinism, this phenomenon is noted by a whole series of authors. Cerletti and Perusini assert that for the parents of children with endemic cretinism, the presence of consanguineous marriages can be proven in 50% of cases. Pfaundler finds that consanguineous marriages among the parents of cretins are 3.5 times more frequent than in healthy families. Also characteristic is the fact noted by Bauer, which consists of the following: if half-brothers and sisters, the common parent of whom is healthy, live in completely identical conditions, then only those whose second parent is also ill are diseased. When studying hereditary patterns in endemic cretinism, according to Pfaundler, it is necessary to take into account the close connection between endemic cretinism and goiter, the correlation coefficient between which is equal to 0.31±0.005. This circumstance, complicated by the difficulties of establishing this trait outside of clinical conditions, along with the undoubted influence of purely external factors on the manifestation of endemic cretinism and goiter (see Goiter), makes genetic analysis of endemic cretinism very difficult. This explains why, up to the present time, we have not actually had firmly established data in this regard. Pfaundler's opinion, which consists of the fact that the predisposition to endemic cretinism is conditioned by one recessive gene, cannot be considered substantiated. Paraphoria, i.e., transmission through the egg plasma, is possible. The fact that in cases where the mother is ill, a larger number of children are always affected than in the case of an ill father, speaks in favor of this.

G. Soboleva. Pathological anatomy. Macroscopically, microcephaly and asymmetry of the brain are noted, as well as a decrease in the number of convolutions and thickening of the dura mater and pia mater; the ventricles are dilated and filled with fluid, and the ependyma are thickened. The weight of the brain is generally not reduced. The specific microscopic picture of the brain in cretinism is unknown; chronic degenerative changes in ganglion cells are often observed. Regarding the thyroid gland, it is also impossible to note any specific histological changes. Many note atrophic and degenerative processes of the parenchyma and the proliferation of connective tissue. It is important to emphasize that the severity of the clinical picture is not always parallel to the severity of the degenerative processes in the thyroid gland. The pituitary gland is mostly enlarged due to the chief cells. Symptomatology. The most characteristic signs of cretinism are growth disorders and facial anomalies, affecting both the skeletal system and the soft tissues. Growth disorders are especially sharp in cretins without goiter: they are all of dwarf stature; but even in goitrous cretins, in 75% of cases, there is a rather sharp retardation of growth (130-160 cm, according to Widler). Cretins are born of normal height; due to the late closure of the epiphyseal sutures, growth can continue until the age of 25-30. X-rays reveal delayed ossification: late appearance of ossification centers in the upper extremities and late closure of the epiphyseal and cranial sutures. As for body proportions, only in 25% are there correct relationships and bone structure; in the remaining cases, the body is clumsy, and the proportions, due to the fact that not all bones are affected to the same degree, are incorrect; the limbs lag behind the trunk in growth more: they are short, massive, and curved, the joints are thickened, the bones of the hands are strongly developed in width, resembling a mole's paws, and the feet are turned inward. The bones are distinguished by great hardness; among other skeletal irregularities, one must note narrowing of the pelvis, coxa vara, ankylosis, scoliosis, flattening of the femoral head, and shortening of its neck (osteochondropathia cretinica). Anomalies of facial structure in relation to the skeletal system have a sharp reflection in the structure of the nose. In connection with the general growth retardation of the skeletal system, there is a shortening of the base of the skull, as a result of which the root of the nose is not pulled forward and remains sunken and flattened (the so-called saddle nose), the distance between the inner corners of the eye slits is greater than usual, and the nose itself is short, wide, and flattened, with wide nostrils. The facial part of the skull is distinguished by a width that significantly exceeds its height, as well as by asymmetry; the cerebral part of the skull, sometimes large and sometimes small in size, is usually of small length and height; the skull is mostly brachycephalic. The weight of the brain is very large compared to the general growth retardation. The soft parts of the face (eyelids, cheeks, lips, forehead) are puffy and edematous. The face has rounded forms ("full moon"). If, to the noted anomalies of the skeleton and soft features of the face and skull, one adds defects of the dental system, changes in the skin, and a face poor in mimicry and expressionless, one gets the type that bears the name facies cretinica. Besides that, there is a retardation in the development of the upper and lower jaws, a frequency of delayed tooth eruption, and crooked teeth with enamel defects (endemic dental caries). The skin is pale, wax-yellow, thick, dry, and elastic (no traces remain upon pressure), easily gathered into folds, and resembles the skin in myxedema. This kind of skin is more often encountered on the face, upper extremities, and thighs. The backs of the hands and feet are thickened in the form of pads. On the forehead, there are transverse folds that give the face an aged appearance. Conductivity in relation to electric current and sensitivity are lowered. Pigment spots (of the chloasma uterinum type) are frequent. This kind of skin is encountered mainly in the young; in persons older than 20 years, the skin is flabby and wrinkled. Supraclavicular pseudolipomas are often noted. Hair growth is sparse. The hair is coarse and bristly, the color of the hair is mostly dark, and the nails are brittle and fragile. If one adds to this a low forehead, large size of the mouth and lips, a constantly protruding tongue, large ears, protruding cheekbones, sharp salivation, frequent conjunctivitis associated with a disturbance of tear drainage due to the saddle-shaped configuration of the nose, a short neck, a distended abdomen (often umbilical hernias), a loose gait (the latter two signs are explained partly by poor development of the muscular system), and a forward-bent posture, then we get the typical habitus of a cretin, which, however, is significantly more diverse than that in myxedema. The involvement of endocrine glands, primarily the thyroid, should be especially noted. Wagner-Jauregg, among 200 cases of cretinism, did not find a normal thyroid gland upon palpation in a single one. Still, not all cretins have a goiter; moreover, in the most severe cases, a goiter may be absent. The goiter sometimes reaches gigantic sizes. Its consistency is sometimes soft and sometimes (more often) hard (bulges, nodules). Sclerosing and atrophic processes are found in the gland, but along with this, there is also functioning parenchyma. (On forms of goiter, see Goiter.) The sex glands also usually function insufficiently. Phenomena of atrophy are noted in them. The external and internal genital organs are mostly poorly developed: a small penis, small testicles, often cryptorchidism, an infantile uterus, small ovaries (often cystically degenerated), late and scanty menstruation, and flabby breasts. Female cretins are mostly sterile or have premature births and stillborn fetuses. Rarely is the fetus full-term. However, in goitrous cretins, there can also be normal development of the genital apparatus. Of the other glands, only the pituitary gland is of interest, the anterior lobe of which is degenerated. Simultaneously with the goiter, a disorder of the cardiovascular system is very often observed. A large goiter can cause congestive phenomena in the lesser circulation, which leads to dilation and insufficiency of the right heart ("goiter heart" of Rose). Kraus pointed out that mechanical factors may be absent, but nevertheless, tachycardia can be observed in cretins (the so-called "thyrotoxic heart"). The blood picture is inconsistent and nonspecific; anemia is most often encountered, and the number of blood corpuscles (both red and white) and the amount of hemoglobin are lowered. Blood coagulability is increased. The iodine content in the blood is lowered, on average 0.003 mg per 100 cm³ of blood instead of 13 (Fellenberg). Metabolism is sluggish. The amount of urine is lowered, and there is often a retention of protein and salt metabolism. The iodine content in the thyroid gland is lowered, while a normal amount is excreted in the urine. Basal metabolism is generally within the normal range (from -9% to 9%). It is appropriate to note that thyreoidin affects the oxidation process in cretinism more weakly than in myxedema. Constipation is frequent. Of the sense organs, the organs of hearing are the most affected: it is normal in only 1/4 of cases (Alexander). According to Scholz's data, in 29% there is deaf-mutism, and in 32% there is hearing impairment. The lowering of auditory ability is connected either with a change in the labyrinth and middle ear or with a degenerative process and retardation in the development of the cortical acoustic centers. Regarding vision, strabismus is often noted, and more rarely a narrowing of the visual field; the sense of smell and touch is lowered. Nervous system. Tendon reflexes are increased in about half of the cases, especially in severe cases where the insufficiency of the cortex disinhibits the subcortical region. Cyanosis of the extremities and chilliness are noted; sweating is lowered. There are no motor disorders of a focal type, and there is no finely differentiated motor function. The gait is loose and clumsy. They begin to walk very late (by 5-6 years of age). In severe cases, cretins barely move, they crawl; this can be partly linked to muscle weakness and skeletal anomalies, but the main role in this is played by the insufficiency of central nervous coordination. Regarding the psyche, various degrees of dementia are observed, starting from idiocy up to mild debility; in individual cases, there are no defects of intellect at all, although even here, due to poorly developed speech and deafness, a false impression of dementia can be created. It is appropriate to note that individual features of mental and somatic inferiority are also present in healthy residents of endemic areas, where the population is generally distinguished by mental limitation, poor abilities, conservatism, slowness, and sexual torpidity. Whatever the degree of dementia in cretins, its character is always torpid; only rarely is erethistic agitation or restlessness observed. Patients are distinguished by poor and slowed-down...

perception of external impressions, with poorly fixed attention. The formation of even moderately complex concepts and ideas is difficult. Therefore, they learn poorly and are often completely unable to assimilate information. For many, all mental content is limited to the needs of eating and sleeping. Memory, mainly mechanical, is preserved; sometimes there is even hypermnesia. Speech in severe cases is sharply impaired; the patients emit only inarticulate sounds with which they express their satisfaction or dissatisfaction. Many lisp or stutter. Some patients use a vocabulary understandable only to those close to them. Finally, some have more or less developed speech. Partially, speech defects are explained by hearing impairment, but general mental deficiency is of no small importance. This is proven by the circumstance that hard-of-hearing cretins possess a smaller vocabulary than hard-of-hearing individuals with normal intellect. The affective-volitional sphere is also inhibited. Emotional excitability is insignificant. The mood is apathetic and phlegmatic, and moreover, the patients are good-natured, affectionate, and strongly (though, admittedly, only outwardly) attached to their relatives. At the same time, they are timid and touchy, and outbursts of anger pass quickly. They are extremely lazy and immobile. Sexual arousal is reduced or absent. In general, specific mental signs of cretinism are unknown, and it is difficult to diagnose this disease based on the mental state alone. It is important to know that somatic and mental features do not always run parallel; for example, one encounters cretins with sharp somatic disorders and insignificant mental defects. Forms of cretinism: 1. Dwarf complete cretinism, where along with the somatic triad (dwarf growth, myxedema, sexual insufficiency) and deafness, there is sharp dementia; patients unable to walk or speak are invalids in the full sense of the word. 2. Dwarf semi-cretins, where along with the indicated somatic phenomena, there is a lesser degree of dementia and some ability, under supervision, to adapt to elementary, regular work. 3. Cretinoid, cretinoids, with some somatic stigmata of cretinism, without gross mental defects and with the ability to work independently. The course is chronic. In individual cases, there is sometimes improvement or deterioration (the latter usually in connection with contracted infections). Cretins live on average no more than 30-40 years. By the beginning of the third decade, in many of them, the goiter becomes smaller, the phenomena of puffiness decrease, and they become somewhat livelier. Treatment with thyroid gland preparations in cases of cretinism in which the first signs of cretinism appear very early yields almost no effect. Significantly greater success can be achieved in those cases where the symptoms of cretinism appear somewhat later. Wagner-Jauregg suggests starting with 0.15 of thyreoidin per day and increasing to 0.3. Wagner-Jauregg is inclined to explain the failure of other authors partly by the fact that these authors used too high doses of thyreoidin. Regarding the treatment of goiter and the prophylaxis of endemic cretinism, see Goiter. Sporadic cretinism, see Myxedema.

m. Jewish. Lit.: Gurevich N. and Sereisky M., Textbook of Psychiatry, M., 1928; Bauer K., Investigations on the Question of a Hereditary Constitutional Predisposition to Nodular Colloid Goiter, Contributions to Clinical Surgery, Vol. CXXXV, 1925-26; Eggenberger H., Goiter and Cretinism (Handbook of Internal Secretion, ed. by M. Hirsch, Vol. III, Lpz., 1928); Eiselberg A., Diseases of the Thyroid Gland, Stuttgart, 1901; Ewald C. A., Diseases of the Thyroid Gland, W. and Lpz., 1909; Bircher E., Cretinous Degeneration, B., 1923; Pfaundler M., On the Conditions of Origin of Endemic Goiter and Cretinism, Yearbook of Pediatrics, Vol. CV, 1924; Quervain F., Goiter, L., 1924; Riebold G., The Heredity of Goiter, Journal of Inductive Abstammungs- and Heredity Theory, Vol. XLV, 1915; Scholz, Clinical and Anatomical Investigations on Cretinism, B., 1906; Siemens H., The Heredity of Sporadic Goiter, Journal of Inductive Abstammungs- and Heredity Theory, Vol. XVIII, 1917; same author, The Question of Heredity in Goiter, Munich Medical Weekly, 1924, No. 51; Wagner-Jauregg J., Myxedema and Cretinism (Handbook of Psychiatry, ed. by G. Aschaffenburg, special part, Dept. 2, Lpz.-Wien, 1912); Wegelin C., Thyroid Gland (Handbook of Special Pathological Anatomy and Histology, ed. by F. Henke and O. Lubarsch, Vol. VIII, B., 1926); Wydler A., The Histology of Cretinous Goiter with Consideration of the Clinic of Cretinism and Functional Investigations, Jena, 1926. KRETSCHMER Ernst (born in 1888), professor of psychiatry in Marburg (Germany), one of the most prominent contemporary psychiatrists. K. is the author of the books: "Die Veranlagung zu seelischen Störungen" (B., 1924); "Der sensitive Beziehungswahn" (2nd ed., B., 1927); "Körperbau und Charakter" (7th and 8th ed., Berlin, 1929; 2 Russian translations from the 3rd German ed., Kiev, 1923 and M.-L., 1924); "Medizinische Psychologie" (3rd ed., Lpz., 1926; Russian ed. - M.-L., 1928); "Über Hysterie" (2nd ed., Lpz., 1927; Russian ed. - M.-L., 1928); "Geniale Menschen" (B., 1929). The third of the named works, "Physique and Character," which has now been translated into most European languages, has gained worldwide fame. It sets forth the conclusions to which K. came in the course of work initially devoted to anthropometric measurements of the mentally ill. K., having divided all the body types he encountered into 4 groups, linked the presence of one of the types in a given person to the latter's belonging to a certain constitution and, accordingly, to one of the two large "circles" of temperaments - cycloid or schizoid. Each of these "circles" is formed from a series of gradual transitions of both mentally healthy and mentally ill representatives of a certain mental makeup: in one case, from patients with circular psychosis, cycloid psychopaths, and healthy people of "cyclothymic" temperament, and on the other hand, from schizophrenics, schizoids, and healthy "schizothymics." Artistic descriptions of the characterological features of these two opposite mental makeups constitute the most vivid part of the book. The views expressed in it provoked extremely fierce controversy, based on numerous verification studies. This controversy has not ended even now. In other works, K. attempted to establish new points of view on a whole range of the most important psychological and psychopathological problems: on the role of primitive mechanisms in the emergence of "hysterical" phenomena, on the layered structure of personality according to the stages of the latter's phylogenetic development, on the types of development of pathological characters, on structural ("multidimensional") diagnostics, etc. K.'s works, distinguished by their richness of thought and artistic presentation, contributed to a great revival of psychiatric thought.