Peripheral blood lymphocyte plasma vacuoles

Introduction The presence of vacuoles in the peripheral blood lymphocytes is one of the symptoms of Niemann's disease. Niemaoh-Pick disease (NPD), also known as sphingomyelin lipidosis, is a congenital glycolipid metabolic disease. It is characterized by a large number of foam cells containing sphingomyelin in whole mononuclear macrophages and the nervous system. This disease is a sphingomyelinase deficiency caused by sphingomyelin metabolism disorders. The latter accumulates in the mononuclear macrophage system, with liver and splenomegaly, and degeneration of the central nervous system.

Cause

The reason why the peripheral blood lymphocyte pulp has vacuoles:

This disease is a sphingomyelinase deficiency caused by sphingomyelin metabolism disorders. 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%.

In 1914 Niëmann reported 1 case and the patient died at 18 months of age. It was discovered in 1934 that it is a neurophosphorus sedimentary disease. It was only discovered in 1966 that it was caused by a lack of neurophospholipidase (sphingomyelinase). After the enzyme is absent, the systemic sphingomyelin metabolism is disordered, and the neurolipids are deposited in the mononuclear-macrophage system and nerve tissue cells.

an examination

Related inspection

Blood routine magnetic resonance angiography

Diagnosis of peripheral peripheral blood lymphocyte slurry:

Diagnose based on

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.

Differential diagnosis

Differential diagnosis of vacuoles in peripheral blood lymphocytes:

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 disease: no fundus cherry erythema, X-ray abdominal plain film can be seen double adrenal gland enlargement, the shape is unchanged, there is diffuse punctate calcification shadow. There are vacuoles in the cytoplasm of lymphocytes.

3, GM gangliosidase lipid disease type I: birth has a appearance characteristics, high forehead, low nose, 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 and spleen, poor intelligence, lymphocytes in the cytoplasm of the lymphocytes, bone marrow with foam cells and other similar to 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.

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