CRETINISM

From Big Medical Encyclopedia

CRETINISM (fr. cretinisme) — the syndrome which is characterized by the irreversible disturbances of nervous, mental and somatic development connected with deficit of thyroid hormones in a critical stage of development of a brain.

The term «cretin» was offered in 17 century by Platter (Ph. Platter, 1614); Karling (Th. Century of Curling, 1850) and Fagge (Gh. H. Fagge, 1871) entered the concept «sporadic cretinism»; then connection was established To. with hypothyroidism (see). Distinguish local and sporadic To.

An etiology and a pathogeny

the Main etiol, factors local To. the same, as local craw: an iodine deficiency or existence in food of goitrogenic substances (see. Craw local ). Value of genetic or other factors is not excluded; points to it that To. in districts, endemic on a craw, meets preferential in families where there are marriages between blood relatives. In areas where are available an endemia of a craw, according to Blegi (O. of Bleha, 1966),

To. it is observed at 1 — 4% of the population. Thanks to iodic prevention and improvement a gigabyte. conditions incidence local To. considerably decreased also in economically developed countries To. meets seldom.

In an etiology sporadic To. hereditary defects of the fermental systems providing synthesis and exchange of thyroid hormones matter. Defect of a yodination, organifikation of iodine, disturbance of synthesis of iodtyrosines from iodtyrosines, the deyodination leading to development of a sporadic nontoxic craw concern to them (see. Craw sporadic ) and to a hypothyroidism. At 60 — 70% of patients sporadic To. the hypothyroidism is connected with disturbances of embryonic development of a thyroid gland — an athyreosis, a hypoplasia, its ectopia. The reason sporadic To. maybe also treatment of mother during pregnancy by thyreostatic drugs (see. Anti-thyroid means ) or radioiodine. Deficit of thyroid hormones in pre-natal (in the third trimester of pregnancy) and in early post-natal the periods when development of a brain is in a critical phase, leads to a delay of somatic and mental development of the child, a so-called inborn hypothyroidism (see. the Hypothyroidism, at children ). If deficit of thyroid hormones comes to light at the child at more advanced age, then all manifestations To. are expressed more weakly.

Pathological anatomy

At local To. are found both an atrophy of a thyroid gland, and a diffusion or nodal craw. Microscopic examination of a thyroid gland at its atrophy reveals separate small follicles and accumulations of cells against the background of a sclerosis. Nodes of a craw often happen single, in them fibrosis, cystous transformations, calcification is noted. At sporadic To. more often the athyreosis or an allotopia of rudimentary formations of a thyroid gland is found in a root of language or in soft tissues of a neck; if the hypothyroidism was connected with defects of synthesis of hormones, the nodal or diffusion craw sometimes reaching the big sizes is observed. The adenohypophysis is hypertrophied due to increase in number of gamma cells (see. Hypothyroidism ). Gonads atrophic are changed. Internals are reduced in sizes. By the time of the termination of growth of a skeleton various degree of dwarfism is noted. Bone changes are symptomatic: the skull is deformed, its basis in comparison with the arch is underdeveloped; the preferential thickening of frontal and parietal bones, deep-drawing bones of a nose, the acting mandible and other bone changes corresponding to that at an inborn hypothyroidism at children is observed.

A clinical picture

the Defining symptoms are a sharp delay of physical and mental development and nevrol, frustration. The first symptoms To. can be found in the first months of life and are combined with signs of a hypothyroidism. More often To. becomes obvious only by 4 — 6 years of life.

Kenig (M. of P. Konig, 1968) the wedge, forms K distinguished two.: nervous and myxedematous. The nervous form is characterized by a hearing disorder and speeches up to a surdomutism (see. Pendreda syndrome ), decrease in intelligence up to an idiocy (see. Oligophrenia ), neuromuscular frustration — spastiko-hypokinetic or hypotonic - hyperkinetic manifestations, disturbances pyramidal system (see), ataxy (see), etc. Signs of a hypothyroidism at this form K. are poorly expressed. At a myxedematous form signs To. pictures of a hypothyroidism come to light against the background of a wedge.

Patient of 16 years (severe form of cretinism).

Outward of cretins is characteristic: small growth up to dwarfism (see), a disproportional constitution with short extremities; stupid expression of a wide round face with a flat wide nose, the mouth is often slightly opened, language is increased, a neck short; some patients have a craw; the stomach is stuck out. Muscles are developed poorly, the movements clumsy and slowed down, the rolling-over gait. Tendon jerks are slowed down. The changes of skin and internals inherent to a hypothyroidism at children are observed. The delay of sexual development, an underdevelopment of generative organs is usual. All these phenomena are especially expressed at a severe form To. (fig.).

The disturbances of a skeletogeny revealed at rentgenol, a research are characteristic. The dysgenesis of an epiphysis in the form of the so-called ischerchenny shattered epiphysis, and also considerable delay of maturing of a skeleton, underdevelopment of a base of skull concerns to them, expansion of the Turkish saddle is frequent. The sharp delay of ossification is especially expressed in the childhood and in the prepubertatny period. The ossification centers appearing with delay slowly increase in sizes, metaepiphyseal regions of growth long remain open and the synostosis comes late. Gradually and slowly bone structure of an epiphysis is recovered, but their form remains wrong. With age multinucleosis of an epiphysis disappears and they get uniform density. Most sharply deformation of an epiphysis is expressed in proximal departments of femoral and humeral bones. Long tubular bones are thickened and shortened. The bast layer is condensed, thickened, the gleam of a marrowy cavity is narrowed. Also other changes corresponding to an inborn hypothyroidism are noted.

Mental disorders can be various degree — from easy moronity to a heavy idiocy with a characteristic torpidnost of all mental reactions. If the hypothyroidism began in 3 — 4-year age, heavy mental disturbances not voznikav!; but even in the most mild cases intellectual processes proceed in a slowed-up way, ability to deduction of data and assimilation of new is weakened.

At an inborn hypothyroidism in 2 — 3 months unusual slackness of the child, drowsiness, lack of normal photoharmoses and a sound are found; further there are no vivacity inherent in children and mobility of motility and affect, sharpness of attention; development of the speech is late, the articulated word formation (in hard cases children make only inarticulate sounds) is broken.

The circle of data at cretins is limited and in hard cases is narrowed before not clear ideas of the most elementary requirements. Nevertheless assimilation of simple skills is available to many patients, however in performance of work they are sluggish, often interrupt it and need stimulation. The Torpidnost of mentality is reflected also in the emotional sphere; patients are usually apathetic and indifferent, affective explosions are rare and quickly exhausted; drowsiness, the increased need for heat is usual. Cretins are closed, reserved and unfriendly, hardly come into contact, but if that is adjusted, then they can become frank and with elements of childishness to speak about itself with the smallest details. Tendency to paranoid and depressive reactions is noted; big irritability is sometimes shown, but calm easily comes in response to caress. Any specific for To. psychoses do not exist and they develop seldom; shizofrenopodobny states are noted. In cases of affektorny frustration not true maniac-depressive psychosis, but the mood swings inherent to an endocrine psychosyndrome takes place.

From a lab. data increase in level of thyritropic hormone and decrease in concentration of thyroid hormones is characteristic. Others lab. indicators can not represent aberrations.

The diagnosis

the Diagnosis in the early childhood is difficult. At this stage identification of signs of a hypothyroidism is possible. At children of advanced age and at adults the diagnosis is based on a wedge., rentgenol. and laboratory signs. The differential diagnosis is carried out with a Down syndrome (see. Down disease ), with a gargoilizm (see. Gargoilizm ), and also with the chondrodystrophia and other diseases which are shown dwarfism (see).

Treatment

the Main method is use of thyroid hormones.

The forecast depends on age, in Krom treatment is begun. Mac-Gregor (A. G. MacGregor, 1964) notes that defects of development of a brain can be substantially overcome if treatment is begun in the first months after the birth. The therapy by thyroid hormones begun at more advanced age can only eliminate symptoms of a hypothyroidism if they are available whereas irreversible disturbances of somatic and psychological development of correction do not give in. Concerning life the forecast is favorable.

Prevention

to Prevention local To. the complex of the events held for the prevention of a local craw promotes (see. Craw local ). To the prevention of the birth of children, patients To., at the women having a nontoxic craw or a hypothyroidism intensive treatment by thyroid hormones can promote during pregnancy.



Bibliography: Buchmann A. I. Radiodiagnosis in endocrinology, page 153, M., 1974; r about l of l of m and N And. Clinical endocrinology and its physiological bases, the lane with English, M., 1969; H and to about l and-e in O. V. Local craw, page 18, M., 1955; Reynberg S.A. Radiodiagnosis of diseases of bones and joints, t. 2, page 58, M., 1964; P about x l and D. G N. Bone system at endocrine and constitutional anomalies, M. — L., 1931, bibliogr.; The guide to clinical endocrinology, under the editorship of V. G. Baranov, page 348, L., 1977; The Local craw, the lane with English, M., WHO, 1963; To n i g M. P. Die kon-genitale Hypothyreose und enderri ische Kretinismus * B. 'u. a., 1968, Bibliogr.; M e a n s J. H., D e G r o o t L. J. a. S t a n-bury J. Century of The thyroid and its diseases, N. Y., 1963; Meng W. Schilddriisener-krankungen, Jena, 1974, Bibliogr.; Ober-d i s s e K. u. K 1 e i n E. Die Krankheiten der Schilddriise, Stuttgart, 1967; The thyroid gland, ed. by R. Pitt-Rivers a. W. R. Trotter, v. 2, p. 112, L., 1964, bibliogr.


A. M. Raskin; D. D. Orlovskaya (psikhiat.), M. K. Klimova (rents.).

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