Pediatric sea blue histiocytosis
Introduction
Introduction to pediatric blue cell histiocytosis The term seabluehistiocytesyndrome began in 1970. The primary patient is an autosomal recessive hereditary disease. As a result of decreased sphingomyelinase activity, sphingomyelin and neuroglycolipid accumulate in the affected tissue. Chemical staining is the name of sea blue particles, and some people think it may be a variant of NPD. basic knowledge The proportion of illness: 0.0005%-0.0008% Susceptible people: children Mode of infection: non-infectious Complications: jaundice liver cirrhosis thrombocytopenia purpura
Cause
Causes of pediatric blue cell histiocytosis
(1) Causes of the disease
It is considered that this symptom is an autosomal recessive hereditary disease. The etiology of this disease is unknown. It can be divided into primary and secondary clinically. Secondary patients are often secondary to primary thrombocytopenic purpura, chronic granules. Cell leukemia, chronic granuloma in children, high-fat egg leukemia, Niemann-Pick disease, thalassemia, lipoproteinemia, multiple myeloma, etc.
(two) pathogenesis
May be due to mild abnormalities in the enzyme system or excessive load on the normal enzyme system, Blankenship et al reported that a family of 3 people are suffering from this disease, which suggests autosomal recessive hereditary diseases, common hepatosplenomegaly, thrombocytopenia, hemolytic Symptoms such as anemia may be caused by accumulation of mucopolysaccharide metabolism in the body.
Prevention
Prevention of pediatric melanocyte cell hyperplasia
With the prevention of genetic diseases, avoid close relatives, and do a good job in consulting for hereditary diseases.
Complication
Complications of pediatric melanocyte hyperplasia Complications jaundice cirrhosis thrombocytopenia purpura
Liver and spleen, infants with jaundice, gradual progression of cirrhosis and liver failure, with thrombocytopenia and purpura.
Symptom
Symptoms of pediatric melanosis syndrome Common symptoms Hepatosplenomegaly, jaundice, thrombocytopenia, skin pigmentation, deepening liver failure, tissue cell proliferation
The onset age is from infant to old age, more than 40 years old.
The clinical course of this disease is similar to the chronic type of Gaucher disease. The onset is concealed, the course of disease is long, and there are hepatosplenomegaly. The splenomegaly is generally more than the liver. The superficial lymph nodes are not swollen. Because of thrombocytopenia, the skin can be seen with purpura. A few patients have Astragalus, may be progressive liver failure, may be caused by accumulation of phospholipids or glycolipids in the liver, occasionally cirrhosis, skin pigmentation, rash, white ring in the fundus spots, 1/3 of the cases have lungs Infiltration, like tuberculosis or sarcoidosis.
Examine
Examination of pediatric blue cell histiocytosis
Blood picture
Due to varying degrees of spleen function, mild anemia, leukopenia and thrombocytopenia, hemoglobin, and red blood cell count are reduced.
2. Blood test
Serum acid phosphatase is increased.
3. The amount of urinary mucopolysaccharide is increased.
4. Bone marrow examination
A large number of sea blue tissue cells can be seen in the bone marrow. The red, granulocyte and megakaryocytes are normal, and the blue-blue tissue cells (type I) and foam cells (type II) can be seen. The diameter of the blue-brown cells is 20-60 m, and there is a circular nucleus with chromatographic agglutination. The nucleolus is viscous. The cytoplasm contains unequal quantities of sea blue or blue-green granules. The sulphate black and glycogen staining is positive. The syrup contains cerebroside and saccharide. The electron microscopy shows that the lipid molecules are circumferential. Laminate structure.
5. Pathological examination
Analysis of the liver and spleen showed that glycosphingolipids, phospholipids and cerebrosides increased, and some patients also had infiltration of sea blue cells in the liver, spleen and lung tissues.
Auxiliary inspection
1. B super visible liver, splenomegaly, cirrhosis.
2. X-ray chest radiograph see lung infiltration shadow.
3. EEG examination can find abnormal brain waves.
Diagnosis
Diagnosis and diagnosis of pediatric blue cell histiocytosis
diagnosis
The discovery of a large number of sea blue tissue cells in the bone marrow is an important basis for the diagnosis of this disease. After determining the syndrome of sea blue tissue cells, it is necessary to further find the cause, and the primary blue-blue histiocytosis syndrome can be diagnosed after the secondary one-by-one exclusion.
Differential diagnosis
It should be differentiated from secondary hypertrophic cell proliferation, such as ITP, chronic granulocyte, polycythemia vera, thalassemia, multiple myeloma, and Niemann-Pick lipidosis. These diseases are mostly seen in the spleen. A small amount of sea blue tissue cells, and has the characteristics of primary disease.
