dry skin
Introduction
Introduction Whole mononuclear macrophages and the nervous system have a large number of foam cells containing sphingomyelin. Higher Xue's disease is rare. It is autosomal recessive, with more Jewish morbidity, and its incidence rate is as high as 1/25000. There are currently at least five types.
Cause
Cause
The lack of sphingomyelinase causes a disorder of sphingomyelin metabolism. The latter accumulates in the mononuclear 0 macrophage system, with liver and splenomegaly, and degeneration of the central nervous system.
The sphingomyelin is formed by the attachment of N-sphingosine to a molecule of phosphocholine at the C1 site. The sphingomyelin is derived from various cell membranes, red blood cell matrices and the like. After phagocytosis by macrophages during cellular metabolic senescence.
The activity of this enzyme is highest in normal liver, and the liver, kidney and brain small intestine are also rich in this enzyme. The activity of the enzyme in the liver, spleen and other tissues of the patient is reduced to less than 50%.
Examine
an examination
Related inspection
Skin smear microscopy skin elasticity check thyroglobulin
1 hepatosplenomegaly.
2 with or without neurological damage or erythema of the fundus cherry.
3 The peripheral peripheral blood lymphocytes and monocyte cytoplasm have vacuoles.
4 bone marrow can find foam cells.
The lungs of the 5X line showed a miliary or reticular infiltration.
6 conditions can be used for the determination of sphingomyelinase activity, sphingomyelin excretion, liver, spleen or lymph node biopsy confirmed.
Diagnosis
Differential diagnosis
1. High snow disease infant type: mainly liver, when the muscle tension is paralyzed, sputum, no fundus cherry erythema, lymphocyte slurry without vacuole, serum acid phosphatase increased, high snow cells found in the bone marrow.
2. Wolman's disease: no erythema of the fundus cherry, X-ray abdominal plain film showed double adrenal gland enlargement, the shape is unchanged, there is diffuse punctate calcification shadow. There are vacuoles in the cytoplasm of lymphocytes.
3. GM gangliosidosis type I: It has appearance characteristics at birth, high forehead, low nose and thick skin, 50% of cases have fundus cherry erythema and lymphocyte pulp vacuoles. X-rays can be seen in multiple bone dysplasia, especially vertebrae.
4.Hurler disease (mucopolysaccharide type I): liver spleen, poor intelligence, lymphocytes in the cytoplasm of the lymphocytes, bone marrow with foam cells and the like NPD. Heart defect, multiple bone dysplasia, no lung infiltration. Urinary mucopolysaccharide excretion increases, and neutrophils have special particles. After June, the shape, bone changes, vision loss, corneal opacity.
