Marble disease

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

. Causes of

. The causes of this disease are not known for certain.
As a rule, Marble disease occurs even in childhood, often there are cases of family involvement

Symptoms

- Fast fatigue while walking
- Pain in the limbs
- Development of pathological bone fractures
- Development of limb bone deformities
- Enlargement of the spleen, liver and lymph nodes
- Increased intraocular pressure and hearing loss
Newborns with Marble disease already have either complete blindness or a significant decrease in vision due to arofii optic nerves.

X-ray examination of a patient with a marbled disease shows that all skeletal bones( pelvic bones, skull base, ribs, tubular bones and vertebral bodies) have an excessively densified structure. All bones are very dense and completely opaque to X-rays. Lack of a bone marrow canal is also recorded. The bones of the pelvis, skull and body of the vertebrae are most sclerotized. In some cases, in the metaphyseal sections of the tubular bones, peculiar transverse clearances are visible, which gives them a marble shade. The bones become very brittle and inelastic. Pathological fractures( especially the femurs) are a common complication of Marble disease.

Teeth appear very late in children with Marble disease. They easily fall out affected by the carious process, which in some cases can be complicated by with osteomyelitis of the jaws ( often lower) and necrosis.

Ophthalmic symptoms of Marble disease include:
- Sealing of exophthalmos and orbitals
- Primary( secondary) atrophy of optic nerves
- Convergence disorder
- Strabismus and nystagmus
X-ray examination is the most important for the most accurate diagnosis of Marble disease, as it shows a complete picture of the changesof all bones, including the vertebrae

Treatment of

Treatment of this disease is mainly carried out on an outpatient basis. The underlying factor is the strengthening of the neuromuscular tissue. Massage, therapeutic gymnastics and swimming are prescribed. Patients need a full-fledged diet rich in vitamins( natural vegetable and fruit juices, fresh fruits and vegetables, cottage cheese, etc.).Children periodically go to a sanatorium treatment.
It is not possible to restore the normal processes of bone formation in clinical conditions to the present day, since adequate therapy of marble disease has not yet been developed.
In the case of anemia, a complex of pathogenetic measures is carried out, which are aimed at its elimination. For the treatment and prevention of deformations of bones and pathological fractures, continuous monitoring in the orthopedist is necessary.

With the timely treatment of complications( skeletal deformities and anemia) and constant prevention - the prognosis for life is very favorable.