MAROTO-LAMI DISEASE

From Big Medical Encyclopedia

MAROTO-LAMI DISEASE (P. Maroteaux, fr. pediatrician and geneticist, sort. in 1926; M of E. J. Lamy, fr. pediatrician and geneticist, sort. in 1895; synonym: a dystrophic nanism, polydystrophic dwarfism) — the hereditary disease of connecting fabric with disturbance of exchange of mucopolysaccharides which is characterized by dwarfism, changes of a skeleton, a gepatosplenomegaliya, opacification of a cornea and the raised excretion of a dermatansulfat with urine.

It is described for the first time by Lamy and Maroto in 1960.

It is transferred on autosomal recessively type and is the VI type mukopolisakharidoz (see). Genetic defect of the enzyme splitting dermatansulfat is the cornerstone of a disease (see. Polysaccharides ), what leads to considerable accumulation it in various bodies and fabrics and to the strengthened removal with urine.

The wedge, symptoms of a disease begin to be shown in 2 — 3 years from lag of the child in growth. In a further trunk and an extremity become short that is characteristic for dwarfism (see), scoliosis, not sharply expressed craniofacial anomalies, changes of auricles, caries of teeth, brakhi-and an isodactylism, a clubfoot are observed; gepatosplenomegaliya, deafness is possible; opacification of a cornea develops. The intelligence remains.

On roentgenograms of bones flattening of edges and vertebrae, expansion of trailer departments of long tubular bones, various character a dysplasia of an epiphysis, uneven length and a shape of bones pyastya, a metatarsus and phalanxes of fingers are visible.

In blood the metachromatic inclusions in leukocytes (Alder's granularity) representing deposits of mucopolysaccharides are found the dermatansulfaturiya is observed.

The diagnosis is made on the basis of anamnestic data, a wedge, pictures, rentgenol, a research and blood test and urine. The differential diagnosis is carried out from mukopolisakharidoza of I and II types — a syndrome Gurler and Gunter's syndrome (see. Gargoilizm ), Morkio's disease (see. Morkio disease ), various forms chondrodystrophias (see).

Treatment is similar to treatment of mukopolisakharidoz; in particular, hormonal drugs are used.

The forecast for life favorable.


Bibliography: Badalyan L. O., Tabolin V. A. and Veltishchev Yu. E. Hereditary diseases at children, M., 1971, bibliogr.; Makkyyusik V. A. Ancestral features of the person, the lane with English, page 465, M., 1976; Goldberg M. F., Scot t. G. I. a. McKusick Y. A. Hydrocephalus and papilledema in the Maroteaux — Lamy syndrome (mucopolysaccharidosis type VI), Amer., J. Ophthal., v. 69, p. 969, 1970; Lamy M. et Maroteaux P. Les mucopolysaccharidoses, Minerva pediat., v. 22, p. 1224, 1970; they are e, Le nanisme diastrophique, Presse med., t. 68, p. 1977, 1960, bibliogr.; Maroteaux P. e. a. Une nouvelle dy-sostose avec elimination urinaire de chond-roitine-sulfate B, ibid., t. 71, p. 1849, 1963, bibliogr.


Yu. A. Knyazev, G. P. Mutovin, H. P. Filina.

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