Genetic diseases

Marble bone disease

Marble disease

Marble disease (Albers-Schonberg syndrome, congenital osteosclerosis, osteopetrosis, giperostoticheskaya dysplasia) - a rare disease dysplastic nature, which is manifested by diffuse osteosclerosis almost all bones of the skeleton.
This disease occurs in all age groups regardless of race and gender


is for certain the cause of this disease is still not known.
Usually Marble disease manifests in childhood, often there are cases of family destruction


- Fatigue walking
- Pain in the limbs
- The development of pathological bone fractures
- development of deformities of limbs
- Enlargement of the spleen,liver and lymph nodes
- Increased intraocular pressure and hearing loss
Newborns with marble disease already exists or complete blindness, or a significant decrease in vision due to optic nerve atrophy.

X-ray examination of the patient with marble disease shows that all skeletal bones (the bones of the pelvis, the base of the skull, ribs, long bones

and vertebral bodies) are overly compacted structure.All the bones are very dense and completely transparent to X-rays.Also, the absence of the medullary canal is fixed.The most sclerotic bone of the pelvis, skull and vertebral bodies.In some cases, the metaphyseal regions of long bones are seen peculiar cross enlightenment, that gives them a marble shade.The bones are very brittle and inelastic.Pathological fractures (especially hip bones) quite common complication of Marble disease.
Children with Marble disease teeth appear very late.They easily fall affected carious process, which in some cases may be complicated by osteomyelitis jaw (usually lower) and necrosis.

to eye symptoms Marble disease include:
- Seal exophthalmos and eye sockets
- Primary (Secondary), optic atrophy
- Violation of convergence
- Strabismus and nystagmus
X-ray examination is essential for the most accurate diagnosis Marble disease, as it shows the complete picturechanges all bones, including the vertebrae

Treatment Treatment of this disease is advantageously carried out in an outpatient setting.The fundamental factor is the strengthening of nervous - muscular tissue.Appointed massage, medical gymnastics and swimming.Patients need to nutritious food rich in vitamins (natural vegetable and fruit juices, fresh fruit and vegetables, cheese, etc.).Children are periodically sent to the sanatorium - resort treatment.
restore the normal processes of bone formation in a clinical setting today is not possible, because adequate therapy marble disease has not yet been developed.
In the case of anemia, the complex of pathogenetic events aimed at its elimination.For the treatment and prevention of bone deformities and pathological fractures need constant supervision by a podiatrist.

Provided timely treatment of complications (skeletal deformities, and anemia) and permanent prevention - prognosis for life is very favorable.

service physician recruitment is relevant only for the citizens of the Russian Federation

Related Posts