Multiple Dysostoses

What is Multiple Dysostoses?

Multiple dysostoses (chondrodystrophy, lipochondrodystrophy, gargoylism) are a group of congenital diseases and autosomnonuscular genesis syndromes for which abnormal products, excessive accumulation and release of one or several specific mucopolysaccharides are common symptoms, as a result of which pathological changes in cartilage, fascia, periost are developing, periostomy, and periosclerosis develop, pathological changes in cartilage, periosity, periost changes in facies, periosity, and periosthenes develop. heart valves, blood vessels, cranial membranes, cornea, liver, spleen. These changes are in the thickening, homogenization, disappearance of ultrastructural elements characteristic of normal collagen fibrils. Osteocytes and chondrocytes are enlarged and vacuolated. Heart valves are wrinkled as a result of the cicatricial process.

The “gargoylism” cells characteristic of some forms of dysostosis are described. These large cells are found in peripheral ganglia, in the central nervous system, the nuclei of leukocytes. Lumps of a substance that stains metachromatically are also found in the aortic intima, lungs, coronary arteries, in the cells of the reticuloendothelial system of the liver and spleen, lymph nodes and in lymphocytes.

Symptoms of Multiple Dysostosis

6 syndromes have been described, which are sometimes difficult to discern externally, since some clinical signs occur simultaneously with several types of lesions. Therefore, recently began to use the classification of this group of diseases by biochemical characteristics.

The Pfaundler syndrome is Hurler (gargoilism is a term named after the head of a freak – sculptural decoration of a drainpipe of Catholic churches and cathedrals: waste water flows from the mouth of the freak, this explains the other term of the syndrome – “a person spitting water”). Patients excrete a large amount of chondroitin sulfate B and hyperinsulfate with urine.

In patients with impaired bone growth, as the cartilage cells in the nuclei of ossification are located randomly. The proximal parts of the extremities — thighs and shoulders, and, to a lesser extent, the legs, forearms, and metatarsal and metacarpal bones — are shortened.

The patient’s hand is characteristic: the fingers are shortened and the same size (isodactyly), fan-shaped, resembling a trident.

The bones of the spine, the clavicle is not changed. The appearance of the patient is also very characteristic: dwarf growth due to disproportionately short limbs with normal body size, hydrocephalus skull with a steep forehead, a flat face, sunken root of the nose, thick sponges. All patients with gargoilism are similar to each other: a short neck, the head sits on the body, kyphosis is noted at the junction of the thoracic spine to the lumbar, in the lower lumbar region there is marked lordosis, and therefore the stomach bulges anteriorly, and the buttocks are posterior. The mind is normal.

When X-ray examination, the tubular bones are thickened due to the cortical layer, very dense, sometimes arcuately curved. The places of attachment of muscles and tendons (tubercles, tuberosities, spits) sharply thickened and deformed. The nuclei of ossification have a fringed appearance, are deformed, signs of secondary osteoarthrosis are revealed in the joints – flattening, tortuosity, unevenness of the contours of the articulated surfaces.

Hunter syndrome. The severity of clinical manifestations in this syndrome is milder than in the case of Pfaundler-Gurler disease. In particular, there is no clouding of the cornea. The life expectancy of such patients is longer than that of gargoylism (with urine, patients emit an increased amount of mucopolysaccharides).

Sanfilippo syndrome is characterized by a high content of hyperinsulfate in the urine. Patients expressed mental disorders – dementia, idiocy. The severity of somatic lesions is less than with the above described syndromes.

Morkio syndrome is characterized by increased excretion of urine keratan sulfate. Dwarfism in such patients depends primarily on the flattening of the vertebral bodies. Characteristic features include a short neck, kyphosis, knee joint valgus, flat feet, knee and elbow joints, restricted mobility, muscle weakness.

Radiological often find focal calcification and flattening of the femoral head, the extension of the acetabulum. The liver and spleen are of normal size. There are no mental disorders.

Shia syndrome is characterized by a high content of dermatan sulfate in the urine. The first signs of the disease develop in adulthood. Clinically detected dysplasia of the face, low growth, atrophy of the interosseous muscles, hyperextension of the metacarpophalangeal and flexion contractures of the interphalangeal joints of the hands, corneal clouding, coarctation of the aorta or aortic valve insufficiency. The psyche is not broken.

Lamy – Maroto syndrome is characterized by an increased urinary output of chondroitin sulfate B. The following clinical symptoms are described: dwarf growth, foot abnormalities, varicose hip joints, spacing of the I and II toes, izodactyly, thoracic scoliosis, dysplasia and hemangiomas of the ear, split cleft .