From Big Medical Encyclopedia

ShchYoGRENA — LARSSON the SYNDROME (To. G. T. Sjogren, Swedish psychiatrist, sort. in 1896; T. Larsson, sovr. the Swedish psychiatrist) — the hereditary disease which is relating to group of ectodermal dystrophies with neurologic manifestations and characterized by a triad of clinical symptoms — an inborn ichthyosis, an oligophrenia, spastic tetraparesis of extremities.

It is described by Shegren and Larsson in 1957. The syndrome meets seldom, by 1981 a little more than 100 reliable observations in 24 countries are registered. The greatest number of the observations described in literature concerns to the patients living in the northeast areas of Sweden is frequent from families with kinship marriages. A mode of inheritance an autosomal recessive - iy, expressivity of a gene is various, there can be erased manifestations.

The pathogeny of a disease is not found out, primary biochemical defect is not established. There are instructions on increase for patients of excretion with urine of kynurenine and a histidine though most of researchers deny existence of changes in exchange of amino acids, carbohydrates and lipids at Sh. — Hp.

At a pathoanatomical research in c. N of page find demyelination of pyramidal and vestibulospinalny (preddverno-spinal) ways (see. Demyelinating diseases), note reduction of number of cells of Bets (see Very tectonics of a cerebral cortex), a neyronalny degeneration in basal kernels, an atrophy of structures of a varoliyev of the bridge, rlivny kernels and a cerebellum. Changes of skin consist in a thickening of a corneous layer, the expressed acanthosis (see) epidermis and thinning of a granular (granular) layer.

The wedge, a picture is characterized by a combination of an inborn ichthyosis (see) with an oligophrenia (see) and spastic tetraparesis (see. Pyramidal system, pathology). Changes of skin come to light from the moment of the birth; the diffusion erythema is observed, then the hyperpegmentation of skin develops, the generalized hyperkeratosis (see Keratoza) which is most expressed in a neck, a trunk in proximal departments of extremities gradually forms; face skin, the heads, shins, brushes and feet, and also nails are, as a rule, not changed; hair are more often thinned, early drop out in frontal and parietal areas; sweating is practically absent.

Nevrol. disturbances are presented by pyramidal insufficiency: the spastic paresis which is the most expressed in legs (see Paralyses, paresis). Children with III. — Hp late start walking or do not go at all. Deformation of feet, flexion contractures (see) in knee joints develop. The speech is almost absent, sick children sharply lag behind in mental development (the oligophrenia can reach degree of a deficiency of intellect and even an idiocy). Epileptic seizures are occasionally observed.

The diagnosis is made on the basis of characteristic clinical symptoms and data in the family anamnesis on existence of a similar disease at other family members. At additional researches on EEG often register a generalized disritmiya (see Elektroentsefalografiya), by means of a pneumoencephalography (see) reveal sharp expansion of cerebral cavities and subarachnoidal (subarachnoid, T.) spaces. At an ophthalmologic research find a pigmental degeneration of a retina (see Tapetoretinalny dystrophies).

Hp it is necessary to differentiate Sh. — with cerebral palsy (see. Children's paralyzes), a syndrome Ore, at Krom is noted a combination of an ichthyosis, an oligophrenia and epilepsy (see Keratoza, the table), and with a family palmar and bottom hyperkeratosis (a syndrome Gray-tera). The last is clinically shown by a keratosis (see) both surfaces of brushes and feet with existence of the keratosic merging papules standing, a leukokeratosis of lips, a poikiloderma of the person and extremities, it is characterized autosomal dominants - nym by a mode of inheritance.

Symptomatic treatment.

Forecast adverse.

At medicogenetic consultation recommend to refrain from a further child-bearing.

Bibliography: Badalyan JI. Lake, Thabo lean V. A. and Veltishchev Yu. E. Hereditary diseases at children, M., 1971; In and the hobo in A. V. and With and t of t a shouting about in N. O Shegren's syndrome — Jlapcco-on, Zdravookhr. Tajikistan, No. 4, page 89, 1981; Gustavson K. H. a. J and-g e 1 1 S. Dermatoglyphic patterns in the Sjogren — Larsson syndrome, Clin. Genet., v. 17, p. 120, 1980; Handbook of clinical neurology, ed. by P.

J. Vinken a. G. W. Bruyn, v. 22, p. 475, Amsterdam a. o., 1975; Jag ell S.,

Gustav son K. H. a. Holmgren G. Sjogren — Larsson syndrome in Sweden, Clin. Genet., v. 19, p. 233, 1981; S i 1 v a C. A. a. o. Pathological findings in one of two siblings with Sjogren — Larsson syndrome, Europ. Neurol., v. 19, p. 166, 1980; Sjogren T. Larsson T. Oligophrenia in combination with congenital ichthyosis and spastic disorders, Acta psychiat. scand., suppl. 113, 1957. H. A. Ilyina.