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KAMURATI-ENGELMANNA DISEASE (M of Camurati, modern ital. doctor; G. Engelmann, avstr. surgeon and orthopedist, sort. in 1876; synonym: inborn system diaphyseal hyperostoses, generalized system hyperostoses with an involute myopathy, a hyperplastic periostitis, the progressing diaphyseal dysplasia, a multiple diaphyseal sclerosis, Engelmann's disease) — the hereditary system diaphyseal hyperostosis at children with an involute myopathy relating to syndromes of a generalized osteosclerosis. Most often femoral, humeral and tibial bones, in other bones of change moderate are surprised. More rare than others front and average departments of a base of skull, frontal bones, bodies of vertebras, nail phalanxes are surprised.

The first descriptions of a disease belong to Kamurati (1922) and Engelmann (1929) though, according to Ferbank (Th. Fairbank, 1949), the message on this disease is made by Kokkeyn (E. A. Cockayne) in 1920. The first description To. — AA. in domestic literature it is given in 1940 by D. G. Rokhlin and M. A. Finkelstein.

To. — AA. carry to rare family inherited disorders of development of bones. Dominant transfer of a mutant gene is supposed. Also sporadic cases are described: Singleton (E. Singleton, 1956) observed a system thickening of walls of the vessels feeding bones with narrowing of a gleam of arteries of different caliber that gives the grounds to attribute a role of a pathogenetic factor to the reduced blood supply of a bone tissue.

A bone tissue in typical cases with expressed osteosclerosis (see), with preservation of the general structure of cortical and spongy substance, but sharp narrowing of channels of osteon (gaversovy channels) and gleams of vessels. Bone beams, as a rule, are considerably thickened.

Fig. 1. Patient with a system hyperostosis: a characteristic type of long reinforced hips of a cylindrical form, acinaciform shins, flexion contractures in large joints.

The early period of life of the sick child is characterized by a bradygenesis, a small increase in weight, a hypotrophy of muscles of extremities. Such children start walking on 3 — the 4th year of life. Further the progressing muscular weakness and development of so-called duck gait is observed. At careful survey it is possible to find a thickening of the extremities getting a cylindrical form without cambers and deepenings; joints are almost not excreted (figure 1). Skin over reinforced bones is tense, reduction of volume of muscles (an involute Myopathy) is noted. Constant symptom are the intensive, aching, «gnawing» pains which are localized in a diaphysis of big tubular bones usually connected with the period of activation of a disease and amplifying at physical. to loading, tutopodvizhnost of joints and constraint of movements. Cases of disproportionate growth of patients with the expressed lengthening of extremities, disturbance of tendon jerks are described. Deafness and paresis of a facial nerve on peripheral type can seldom develop. There are no changes of blood and endocrine organs usually, however M. V. Volkov in 1974 reported about the patient of 19 years, at a cut infantility, a sharp hypoplasia of genitalias and lack of periods, a hypoplastic sub-nanism with lag of intellectual development were found.

Fig. 2. Roentgenograms of bones of a shin (1), forearm (2), basin and upper third of hips (3) patients with a system hyperostosis: long tubular bones cylindrical it is also club-shaped are thickened, a bast layer leaky, sharply reinforced, has uneven spotty structure with uneven contours; pelvic bones are thickened.

Radiological the symmetric hyperostosis of tubular bones of a skeleton is defined. The affected bones are bulky, their diaphysis is thickened by 2 — 3 times, the marrowy channel is evenly narrowed, but never disappears completely. An epiphysis is not changed. The bast layer is considerably thickened knaruzh and knutr, with the phenomena of an osteosclerosis, but the structure it is not broken. The drawing of spongy substance is changed — bone beams are rough, thick, dense and steep (fig. 2). At children's age the structural drawing can be uneven, have scattered krupnopyatnisty focal character.

To. — E.b. it is necessary to differentiate with the deforming Pedzhet's osteodystrophy (see. deforming ), acromegalia (see), multiple cortical hyperostoses of early age (see. Hyperostosis ), a disease of Recklinghausen (see. Neurofibromatosis ), etc. An important differential diagnostic character, except a typical rentgenol, a picture, lack of the disfiguring changes, a curvature of bones, etc., is lack of tendency to spontaneous changes, despite progressing of process.

Symptomatic treatment. Appoint fortifying medicines and procedures, at pains — analgetics.

Course of a disease slow and high-quality. The forecast for life favorable.

Bibliography: M. V wolves. Diseases of bones at children, M., 1974; Kameneva T. I. and Trofimova 3. A. O inborn system, diaphyseal hyperostoses at children, Vopr. okhr. mat. also it is put., t. And, No. 11, page 89, 1966; Reynberg S.A. Radiodiagnosis of diseases of bones and joints, book 1, page 422, M., 1964; I am rand and N and M. P. An inborn system diaphyseal hyperostosis — Engelmann's disease, Vestn, rentgenol, and radio-gramophones., No. 3, page 82, 1969; Camurati M. Symmetrical hereditary osteitis, Chir. Organi Mov., v. 6, p. 662, 1922; Engelmann G. Ein Fall von Osteopathia hyperostotica (Sclerotisans) multiplex infantilis, Fortschr. Rontgenstr., Bd 39, S. 1101, 1929.

A. M. Grindings.