Marble disease

Description:

Marble disease (Xing.: AIbers Schnberg syndrome) is called by name the German surgeon and the radiologist of N, L. Albers Schonberg, for the first time described in 1904.
The disease is characterized by generalized consolidation of bones.

Reasons of the Marble disease:

The etiology and pathogeny are unknown. Consider that dominance of osteoblasts and decrease of the activity of osteoclasts is the cornerstone of a disease. The raised products of a bone go due to endokostalny growth that leads to sharp narrowing of marrowy space, up to full replacement of marrow.

Symptoms of the Marble disease:

The processes stated above cause the main symptoms of this disease:
- anemia (pallor, decrease in hemoglobin, tachycardia, systolic noise);
- to a trombotsmtopeniye (bent to bleeding, lengthening of a bleeding time);
- decrease in immunity (bent to long and repeated bacterial infections);
- decrease in a marrowy hemopoiesis that leads to a hypertrophy of bodies of an extra marrowy hemopoiesis, appears a gspatosplenomegaliya from here; the liver and a spleen reach very big sizes.
The first diagnoses at these patients, as a rule, are anemia, a leukosis, a hemorrhagic syndrome, pneumonia, sepsis, an immunodeficiency, etc.
Less constant symptoms - bent to fractures of bones owing to their fragility, lag in psychomotor development, a hypodynamia, slackness. Skull bones dense, head heavy. By production of a sternal puncture marrow is not possible to receive or its quantity very scanty.
The raised products of a bone tissue can lead to considerable narrowing of an opening of an optic nerve with development of its atrophy and a blindness.
Hereditary disease. At early manifestation - an inborn form - the forecast bad. Patients die of aplastic anemia, a heavy purulent infection, sepsis. Such forms of a disease are inherited on autosomal dominantly type. In half of cases the disease proceeds asymptomatically and comes to light at mature age at accidental inspection. Consider what in these cases takes place
recessive way of inheritance.
Diagnosis. The intravital diagnosis is possible only at X-ray inspection. To a bowl of all on the roentgenogram of the thorax made concerning pneumonia or tubular bones (in connection with their change or suspicion of osteomyelitis), found the changes inherent to this disease. The subsequent X-ray inspection of a skeleton finds specific change: bones look dense, homogeneous, their very tectonics is not defined. Bones of a facial skull of the increased density, especially dense are presented to a bone of a base of skull. Long tubular bones give an intensive homogeneous shadow, the spongy structure of bones and the marrowy channel are not defined.
At a pathoanatomical research - bones dense, are sawn hardly, but very brittle and fragile. The marrowy channel in tubular bones is absent. In internals the centers of an extramedullary hemopoiesis are defined.

Treatment of the Marble disease:

Only symptomatic: transfusion of erythrocyte and platelet masses, antibiotics, calcium drugs (at children the hypocalcemia with bent to a tetany is noted). There are attempts of use of Thyreoidinum and glyukokortkoid.