Syndrome schwamman-damond

Syndrome Schwamman-Diamond - congenital hypoplasia of the pancreas, combined with a decrease in the number of leukocytes in the blood, low growth and anomaly of bones. This disease is a frequent cause of pancreatic insufficiency in children, which is manifested by malabsorption. The cause of the disease is unknown.

The autosomal recessive type of inheritance can be said if there are more than one patient of the 1st degree of kinship in the family, and single cases are also common. It is assumed that in the early stages of intrauterine development, viruses destroy the tissues of the pancreas, bone marrow and bones. In this case, pancreatic lobes are usually replaced by fatty tissue without the development of fibrosis and signs of inflammation, excretory ducts are rarely damaged. The decrease in the number of leukocytes can be both pronounced and minimal. Approximately half of patients with X-ray revealed signs of damage to the bone cartilage. In the first place, the femoral head is usually affected, but other bones may also change. Some patients have short ribs with free front ends, which makes breathing difficult. Some people suffering from this disease are diagnosed with cardiac damage.

For the syndrome under consideration, the following clinical manifestations are characteristic: chronic diarrhea, hypotrophy and a tendency to infections. The first symptoms of the disease appear usually at the 3rd month of life, diarrhea appears after the introduction of complementary foods or the cessation of breastfeeding. The chair is frequent, 4 to 10 times a day, mushy, usually greyish, greasy, with a disgusting odor, there is polyphecal( an increase in the volume of fecal masses).Appetite is sharply reduced, but sometimes it is normal and even elevated. Almost all children quickly lose weight, they lag behind in physical development. There is an increased sensitivity of the respiratory tract and skin to infections such as bronchitis, pneumonia, pseudofurunculosis, abscess, and pyoderma. Meningitis and osteomyelitis are often observed. Angina, otitis, rhinosinusitis develop less often. More severe and frequent infections affect children with immunodeficiency and a marked decrease in the number of leukocytes. Reducing the number of platelets is sometimes accompanied by the development of bleeding. As an exception, there is a decrease in the number of all blood cells. Half of the patients have anemia. In feces a large amount of undigested fat is detected, which can be accompanied by a decrease in it, as well as cholesterol in the blood. The diagnosis is usually established in infancy, when children suffer from severe frequent infections and intestinal absorption disorders. Syndrome Schwamman -Diamond differs from cystic fibrosis with normal chloride content in the sweat. Detection of pancreatic insufficiency in combination with a reduced number of leukocytes allows excluding other causes of malabsorption. Sometimes children with severe protein-energy malnutrition, and also against the background of severe pathology of the small intestine, have leukocyte deficiency and secondary pancreatic insufficiency, which in such cases is a consequence of a violation of protein synthesis and a lack of stimulating hormones, since in bowel diseasethe cells that produce these biologically active substances are destroyed. In such situations, Schwamman-Diamond syndrome can be excluded only by proving that the function of the pancreas is restored as the nutrition improves.

There are descriptions of pancreatic insufficiency in children with congenital anomalies( such as underdevelopment of the wings of the nose, skin defects on the head, stunting and neurodevelopment, short square hands, underdevelopment of the nose bones, deafness), but without changes on the part of the blood andimmune system.

No specific treatment. Substitution therapy with enzymes of the pancreas gives a favorable result, infections occur less often. The blood counts remain changed for a long time. The introduction of pancreatic enzymes with a substitution purpose is carried out under the control of fecal analysis. In addition, iron preparations, vitamins of group B, fat-soluble vitamins are prescribed. The food ration should contain an increased amount of protein, fats restrict.

The prognosis for Schwamman-Diamond syndrome is more favorable than in cystic fibrosis, but some children die in early childhood. Later the disease proceeds much more easily, the sick children are distinguished by a slight growth and a gracile physique.