MORKIO DISEASE (L. Morquio, Uruguayan pediatrician, 1867 — 1935; synonym: mukopolisakharidoz type IV, Morkio's syndrome — Breylsforda, a multiple enchondral Dysostosis, the deforming osteochondrodystrophy) — the hereditary disease of connecting fabric from group of mukopolisakharidoz which is characterized by multiple damages of a skeleton, low growth, a keratansulfaturiya.
The disease was described for the first time in 1929 independently from each other by Morkio and J. F. Brailsford. Till 1959 to M. referred various multiple damages of a skeleton, including a spondiloepifizarny dysplasia, a multiple epiphyseal dysplasia, etc. In an independent nozol, a form M. it is allocated after detection specific biochemical, a sign — existence in urine of mucopolysaccharides. M.'s frequency. about 1: 40 000 among newborns.
An etiology and a pathogeny
the Mode of inheritance — autosomal and recessive. The pathogeny is connected with disturbance of a catabolism of acid glikozaminglikan (mucopolysaccharides) owing to deficit of enzyme — хондроитинсульфата-N-ацетил-гексозоаминсульфатсульфатазы.
The first symptoms appear by the end of the first — the beginning of the second year of life. Grotesqueness of features, a hypertelorism is observed (see. Dysostosis ), saddle Nov, a megaloglossiya, muscular weakness, lag in motive development. The diffusion hypotrophy and flabbiness of muscles, change of gait from slight lameness to duck is noted. By 3 — 4 years rough bone and joint deformations of a thorax (chicken, barrel-shaped, kileobrazny), a backbone (scoliosis and a kyphoscoliosis), valgus deformation of extremities (fig. 1) form. Growth rate, a neck and a trunk — short is slowed down. By 7 — 10 years nek-ry children have extremity pains, there are contractures in elbow, shoulder, knee joints. The myopathic symptom complex accrues; children complain of weakness, fatigue at rest, decrease in an animal force. Symptoms of intracranial hypertensia are defined (see. Hypertensive syndrome ), vegetative lability, increase in tendon jerks owing to gradual development of the central paresis and paralyzes (see. Paralyses, paresis ). Mental development, as a rule, normal. At survey of an eyeground the atrophy of a disk comes to light optic nerve (see).
the Diagnosis is established on the basis a wedge, pictures, biochemical, researches of urine and rentgenol, data. In urine excess excretion of total quantity of acid glikozaminglikan, in particular a keratansulfata is found.
At rentgenol. a research of long and short tubular bones the growth disorder of an epiphysis of bones which is shown in their flattening, expansion and reduction of height (fig. 2) in the absence of essential growth inhibition in epiphyseal cartilages is observed. At a X-ray analysis of a backbone noticeable flattening and expansion of bodies of vertebrae from C2 to L5 — a platibrakhispondiliya (fig. 3), as a rule, is found, than and characteristic shortening of a trunk and unusually short neck at M. speaks.; intervertebral disks at the same time are a little changed or not changed at all. The Perednezadny size of a thorax is increased, intercostal spaces are narrowed, the breast is dugoobrazno deformed. All these changes come to light at survey (it is desirable television) roentgenoscopies with the subsequent obligatory X-ray analysis of those departments of a skeleton, in to-rykh the most expressed changes are found.
Differential diagnosis it is necessary to carry out with other types mukopolisakharidoz (see), imperfect bone formation (see. Bone formation imperfect ), spondiloepifizarny and metafizarny displaziya, vitamin D-resistant rickets (see. Phosphate diabetes ), renal rickets (see. Osteopathy nephrogenic ), inborn syphilis (see), hypothyroidism (see).
patients with easily removable or permanent deformations of extremities, contractures, an anchylosis of joints in vicious situation, the dislocations and incomplete dislocations in joints leading to disturbances of a form and function of extremities are subject to Treatment. Treatment can be conservative and operational. The choice of a method of treatment depends on disease severity, age and the general condition of the patient. The complex of conservative actions includes to lay down. gymnastics, massage, imposing of special laying and plaster bandages, skeletal or adhesive extension (see), use of orthoses and footwear. Lech. the gymnastics and massage promote preservation of a tone and trophicity of muscles, the general strengthening of an organism. Special exercises provide improvement of motive function of the affected joints and a backbone. Special laying in a bed with a load to the affected joint is appointed for the purpose of elimination of contractures in joints and recovery of the correct position of extremities. Resistant contractures correct skeletal or adhesive traction on funkts, the tire. At a difference in length of the lower extremities on 2 — 4 cm, weaknesses of muscles, instability during the walking in 4 — 5-year age appoint orthoses or footwear.
The great value gets a dignity. - hens. treatment, the most effective results to-rogo are observed at children to 7 — 10-year age (gait improves, extremity pains, fatigue disappear, the volume of movements in joints increases).
The indication to operational treatment are the expressed statikofunktsionalny disturbances (deformations, contractures, vicious installations of extremities, ankiloza of joints).
At bilateral defeat first of all more defective joint in the functional relation or a segment of an extremity operate.
Corrective are most widespread osteotomies (see) at various levels of the lower extremity: at the flexion bringing contracture in a hip joint — a subtrochanterian or intertrochanteric osteotomy of a femur; at a flexion contracture in a knee joint in combination with a valgus or varus deviation of a shin the epicondylic osteotomy of a femur or an osteotomy of a tibial bone at the level of a proximal metaphysis is shown.
Fixing of bone fragments is carried out by a plaster bandage or metal designs, including distraktsionno-compression devices (see) that allows to carry out if necessary also additional correction and early to begin the movements in a nearby joint. Corrections of deformation of a backbone at M. do not make. In the postoperative period active rehabilitation therapy is obligatory: remedial gymnastics, massage, bathtubs, physiotherapeutic and dignity. - hens. treatment.
Use of orthoses and footwear in a complex with an operative measure creates conditions for improvement of a statics, promotes bystry and correct reorganization of a bone.
Forecast adverse: the disease progresses.
For prevention changes of a thorax it is necessary to sleep on a hard bed, and with 3 — 4-year age to carry a polyethylene corset.
By means of orthoses, footwear and a corset it is impossible to prevent progressing of various deformations of a skeleton, but in a complex with other medical actions they allow to prevent heavy static disturbances.
Bibliography: Badalyan L. O., Tabolin V. A. and In eltishchev Yu. E. Hereditary diseases at children, page 305, M., 1971; In about l to about in M. V. and D e d about in and V. D. Children's orthopedics, M., 1972; M. V. Wolves and d river. Klkniko-rentgenologichesky characteristic and questions of diagnosis of epiphyseal displaziya, Ortop, and travmat., No. 7, page 1, 1972; Dyachenko 3. V. O multiple epiphyseal displaziya, Vestn, rentgenol, and radio-gramophones., JYo 2, page 8, 1959; Cake layer. And., M about and with e e in and K. N. and E. Ya. Punks. Fibrous dysplasia of a bone tissue, Kiev, 1971; Makkyyusik V. A. Ancestral features of the person, the lane with English, page 545, M., 1976; Sirs of H. And., and N of about l d And. 3. and M about with to and h e-in and K. A. Radiodiagnosis in pediatrics, M., 1972; In r an i 1 s f about r d J. F. Ghondro-osteo-dystrophy, roentgenographic and clinical features of a child with dislocation of vertebrae, Amer. J. Surg., v. 7, p. 404, 1929; M a t z e n P. F. Lehrbuch der Orthopadie, B., 1967; M o r q u i o L. Sur une forme de dvstrophie osseuse familiale, Arch. Med. Enf., t. 32, p. 129, 1929; W o 1-k o w M. W. u. Andrianow W. L. Die orthopadische Behandlung der Kinder mit dysplastischen Erkrankungen der Knochen-systems, Beitr. Orthop. Traum., Bd 15, S. 649, 1968.
L. O. Badalyan; L. I. Samoylova (ORT.), L. M. Freydin (rents.).