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Down's disease (syndrome)

Down's disease (synonym: Down syndrome, Langdon's Down syndrome, embryo) is one of the forms of oligophrenia, in which the retardation of mental and physical development is combined with the peculiar appearance of patients and the failure of many endocrine systems. This is a disease of chromosomal etiology (see Hereditary diseases ).

Clinical manifestations of the disease are very characteristic (Fig.): The patient has a small head, narrow palpebral fissures, an oblique eye section, skin fold at the inner corners of the eyes (epicantus), a flat face with prominent zygomatic arches, a small bellied nose , deformed ears, twisted little fingers, thick tongue; the mouth is usually half open. Already in the first year of life, there is a noticeable lag in the development of the psyche and motility. Children later begin to sit and walk. Muscles sharply hypotonic, range of motion in the joints is increased. Education is possible only in special schools . The prognosis is unfavorable.

Treatment is ineffective. Attempts are being made to treat aloe with the extract - for children up to 5 years old 0.2-0.3 ml, over 5 years old - 0.5 ml subcutaneously (30 injections per course), cerebrolysin - 0.1 ml per 1 year of life intramuscularly (30 injections per course) , vitamin B12 - 100-200 µg intramuscularly (course of 20 injections), glutamic acid 0.1 g per 1 year of life, 2-3 times a day, orally; in case of a sharp dysfunction of the thyroid gland - thyroidin (as prescribed by a doctor); begin with small doses (1-5 mg per day) and, gradually increasing the dose, reach 0.01-0.05 g per day (treatment is carried out for 1 month).

Due to their low resistance to infection, children with Down syndrome periodically need antimicrobial drugs. It is advisable to carry out a karyological examination (study of the chromosome set) of the patient and parents in the psycho-neurological dispensary to decide whether there is a great danger of having children in this family of patients with Down syndrome in the future. See also Oligophrenia .

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Down's disease (synonym for Langdon - Down's disease) is a congenital disease with delayed mental and physical development and impaired function of certain endocrine glands. Down syndrome, as well as Klinefelter, Turner-Shereshevsky, Bonnevie-Ulrich, syndromes, is a chromosomal disease. While a healthy person has 46 chromosomes, with Down syndrome, 47 chromosomes are detected, and the third 21st chromosome is superfluous. When the disease is disturbed, tryptophan metabolism is observed, microbrachyce is observed, the oblique arrangement of the eyes, a wide sunken bridge, the fountain springs close late, the bones of the skull slowly grow together. The sky is high. Prognathism is observed, the ears are located below the usual, their lobes are incremented. Skin from thin at birth with development becomes thick and dry. Conjunctivitis, keratitis, blepharitis, acrocyanosis, torso marbling, growth retardation, shortening of the limbs, fingers of the hands are wide and short, abdomen swollen, genitals and secondary sexual signs are underdeveloped. Language "geographical." A third of patients have congenital heart defects. Often, the disease is combined with deformities: syndactyly, polydactyly, clubfoot, cleft palate, hypospadias, anus atresia. In the joints increased range of motion. Muscles are hypotonic. The function of the vestibular apparatus is impaired.

Children suffering from Down's syndrome are oligophrenic, extremely susceptible to tuberculosis, and childhood infections. About half of patients die in the first year of life. When puberty is reached, patients begin to decay faster.

The disease should be distinguished from myxedema, in which the skull has the usual configuration, the tongue is not stripped, the basal metabolism and the accumulation of radioactive iodine by the thyroid gland are lowered.

The forecast is not favorable.

Treatment. Preparations of the anterior pituitary (intanthol, ambino, prephysone), thyroidin with vitamin D, methyltestosterone up to 0.1 g per day, folliculin and synestrol (women), choriogonic gonadotropin are used. Early use of glutamic acid up to 6 g per day can somewhat improve the mental development of patients.