Supranuclear vertical ophthalmoplegia

Introduction Found in juvenile type (C type chronic neurotype) Niemann-Pick's disease, more common in children, a small number of children or adolescents, cherry erythema or supranuclear vertical eye muscles can be seen in the fundus.

Cause

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

Eye function examination ophthalmologic examination oculomotor examination eye movement examination ophthalmoscopy

Younger type (C type chronic neurotype) Niemann-Pick's disease, more common in children, a small number of children or adolescents. After birth, the development is more normal, and a few have early jaundice. Often the first hepatosplenomegaly, most of the symptoms of neurological symptoms in 5 to 7 years old (may be earlier or late in adolescence). Mental decline, language barriers, learning difficulties, emotional variability, gait instability, ataxia, tremors, muscle tension and hyperreflexia, convulsions, dementia, cherry erythema or supranuclear vertical eye muscles. Can live to 5 to 20 years old, and individual can live to 30 years old. The cumulative amount of SM is 8 times normal, and the enzyme activity is up to 50% of normal, which is also close to normal or normal.

Differential diagnosis

Nuclear suppository ocular tendons need to be differentiated from the following diseases.

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.

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