What Is a Cherry-Red Spot?

The cause of cherry red spots in the macula of the fundus is autosomal recessive.

Cherry red spots on the macula

The cause of cherry red spots in the macula of the fundus is autosomal recessive.

The first case was reported by Niemann in 1914. In 1922, Pick described the pathological findings in detail, hence the name. China reported two cases for the first time in 1963, and one case has been reported since.

Affected area

head

Related diseases

Erythema Gaucher disease Nimman-Pick disease in children

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Ophthalmology

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Analysis of white blood cell count by chest bone marrow imaging

Niemann-Pickrsquo; sdisease (NPD) is a hereditary metabolic disease caused by sphingomyelin and cholesterol deposition in various organs of the body. It is common in young children and has liver and splenomegaly and macular fundus Cherry red spots and large foam-like cells in bone marrow smears and other main features.

Pathophysiology

The disease is autosomal recessive, and Jews are more susceptible. It has been confirmed that the disease is caused by the lack of sphingomyelinase in types A and B of the disease. The enzyme is widely present in lysosomes of a variety of tissue cells, and is also found in mitochondria and microsomes, especially in hepatocytes. Sphingomyelin is found in the cell membrane and subcellular serosa of all cells, including the matrix of red blood cells. When the enzyme is deficient, such lipids cannot be hydrolyzed, resulting in a large accumulation in the cells, often accompanied by the deposition of cholesterol and bisphosphate.

The principle of cholesterol increase is unclear. There seems to be a close relationship between cholesterol and sphingomyelin metabolism, and there may be a small increase in other sphingomyelin. In the cells of patients with type C and type D, the main deposit is cholesterol, sphingomyelin is less, and sphingomyelinase is also reduced in the cells, and its levels are between those of type A and B and normal people.

Obvious obstacles exist in the esteriification of exogenous cholesterol in skin fibroblasts of patients, and based on this possible pathogenesis, homozygotes, carriers, and prenatal diagnostic methods have been established, so this is considered to be the basis Cause of the disease. The sphingomyelinase gene is located on chromosome 17, and its structure is clear. The type C gene is mutated on chromosome 18.

Examination and diagnosis of cherry red spots on the fundus macular

Symptoms and signs:

1. Type A: Feeding difficulties, malnutrition, liver and splenomegaly occur from 3 to 4 months after birth. Hepatomegaly often precedes splenomegaly, lymphadenopathy, mental retardation, but due to its progress It is relatively slow, so it is often undetected within a few months after the illness. Not only does it fail to meet the developmental standards of that age, but it also regresses and muscle strength decreases. The skin has tan pigmentation, and the lungs can be affected. In severe cases, hearing and vision are affected or even lost. 30% to 50% of patients have cherry red spots in the macula of the fundus. Children gradually lose weight and often die before the age of 3 to 4 due to secondary infection.

2. Type B: This type progresses very slowly, with the exception of liver and spleen, with no or only slight neurological manifestations, and can survive long-term with illness.

3. Types C and D: The child behaves normally within a few years after birth, and gradually develops neurological symptoms, such as reduced vocabulary, ataxia, convulsions, and supranuclear ophthalmoplegia. Liver is bigger than spleen. The progress of the disease is slow, the mental and motor development gradually decline, and muscle tension and hyperreflexia will appear in the future. Type C behaves similarly to type D, but type C is common in NovaScotia, Canada. Some unexplained neonatal hepatitis was found to be type C.

Diagnostic check:

Diagnosis: Infants with liver, splenomegaly, liver larger than spleen, and gradually appearing nervous system manifestations, the disease should be suspected, such as cherry red spots in the macular area, miliary changes in the lung X-ray film support The diagnosis of this disease is based on the finding of typical foam-like Niemann-Pick cells in the bone marrow. If the sphingomyelinase activity is reduced, the diagnosis can be confirmed.

Laboratory inspection:

1. Hematology: may have moderate anemia and thrombocytopenia, the degree of which depends on the extent of bone marrow involvement. Leukocytes are generally normal, can be reduced or even slightly increased, and lymphocytes and monocytes can have vacuoles.

2. Myelogram: The degree of bone marrow hyperplasia and the proportion of various cells are normal. Typical Niman-Pick cells can be found. The diameter of such cells is 20 ~ 90m, round, oval or triangular, including one with less eccentricity. Nucleus, cytoplasm is filled with foamy nerve sheath myelin particles like mulberry-like fat droplets, this structure makes the cytoplasm foamy, so it is also called foam cells. Wright staining was light blue, lipid (Sudan III) staining was positive, glycogen staining of vacuole walls was positive, vacuole centers were negative, and alkaline phosphatase and peroxidase staining were negative.

Other auxiliary checks:

1. X-ray examination: Type A patients may have miliary infiltration in the lungs, mild enlargement of the medullary cavity and thinning of the cortex of bones, gray matter degeneration, demyelinating lesions, and cerebellar atrophy in brain CT and MRI examinations.

2. Enzyme measurement: Leucocytes, skin biopsies, fibroblasts, and culture assays showed that sphingomyelinase was reduced.

3. Others: Cholesterol esterification is detected by skin fibroblast culture, and there are obstacles in type C. At the same time, Philippine staining can show the accumulation of unesterified cholesterol in the lysosome. Rectal biopsy can clearly show the deposition of type C nerve cells before neurological symptoms appear (sometimes years).

Infection is a common complication and the main cause of death, and active treatment should be given.

Cherry red spots on the macula of the fundus can easily confuse symptoms

Macular fundus was found to have a grayish discoloration: Austin-type infantile cerebral thiolipidosis, also known as Austin-type metachromatic leukodystrophy, is a combined disease of cerebral thiolipidosis and mucopolysaccharidosis. It is characterized by a mild Hurler syndrome face, multiple bone dysplasia, severe neurological symptoms, and markedly reduced intelligence. Fundus examination can reveal that the macula is grayish discolored, and may even become blind later.

Fundus cherry erythema: Due to the interruption of blood flow to the fundus arteries, diffuse gray-white edema appears in the posterior pole of the retina. The center of the fundus macular is concave, and it is highlighted by the surrounding gray-white edema area.

Fundus punctate or flaming hemorrhage: Fundus hemorrhage is not an independent eye disease, but a feature common to many eye diseases and certain systemic diseases. Common in hypertensive retinopathy, diabetes and kidney disease caused by retinopathy. Periretinal retinal vein inflammation, retinal vein occlusion, disc vasculitis, and hematological diseases cause retinopathy and traumatic fundus hemorrhage. The same pathological damage is caused by various causes, such as retinal hemorrhage, exudation, microhemangioma, neovascularization, etc.

Symptoms and signs:

1. Type A: Feeding difficulties, malnutrition, liver and splenomegaly occur from 3 to 4 months after birth. Hepatomegaly often precedes splenomegaly, lymphadenopathy, mental retardation, but due to its progress It is relatively slow, so it is often undetected within a few months after the illness. Not only does it fail to meet the developmental standards of that age, but it also regresses and muscle strength decreases. The skin has tan pigmentation, and the lungs can be affected. In severe cases, hearing and vision are affected or even lost. 30% to 50% of patients have cherry red spots in the macula of the fundus. Children gradually lose weight and often die before the age of 3 to 4 due to secondary infection.

2. Type B: This type progresses very slowly, with the exception of liver and spleen, with no or only slight neurological manifestations, and can survive long-term with illness.

3. Types C and D: The child behaves normally within a few years after birth, and gradually develops neurological symptoms, such as reduced vocabulary, ataxia, convulsions, and supranuclear ophthalmoplegia. Liver is bigger than spleen. The progress of the disease is slow, the mental and motor development gradually decline, and muscle tension and hyperreflexia will appear in the future. Type C behaves similarly to type D, but type C is common in NovaScotia, Canada. Some unexplained neonatal hepatitis was found to be type C.

Diagnostic check:

Diagnosis: Infants with liver, splenomegaly, liver larger than spleen, and gradually appearing nervous system manifestations, the disease should be suspected, such as cherry red spots in the macular area, miliary changes in the lung X-ray film support The diagnosis of this disease is based on the finding of typical foam-like Niemann-Pick cells in the bone marrow. If the sphingomyelinase activity is reduced, the diagnosis can be confirmed.

Laboratory inspection:

1. Hematology: may have moderate anemia and thrombocytopenia, the degree of which depends on the extent of bone marrow involvement. Leukocytes are generally normal, can be reduced or even slightly increased, and lymphocytes and monocytes can have vacuoles.

2. Myelogram: The degree of bone marrow hyperplasia and the proportion of various cells are normal. Typical Niman-Pick cells can be found. The diameter of such cells is 20 ~ 90m, round, oval or triangular, including one with less eccentricity. Nucleus, cytoplasm is filled with foamy nerve sheath myelin particles like mulberry-like fat droplets, this structure makes the cytoplasm foamy, so it is also called foam cells. Wright staining was light blue, lipid (Sudan III) staining was positive, glycogen staining of vacuole walls was positive, vacuole centers were negative, and alkaline phosphatase and peroxidase staining were negative.

Other auxiliary checks:

1. X-ray examination: Type A patients may have miliary infiltration in the lungs, mild enlargement of the medullary cavity and thinning of the cortex of bones, gray matter degeneration, demyelinating lesions, and cerebellar atrophy in brain CT and MRI examinations.

2. Enzyme measurement: Leucocytes, skin biopsies, fibroblasts, and culture assays showed that sphingomyelinase was reduced.

3. Others: Cholesterol esterification is detected by skin fibroblast culture, and there are obstacles in type C. At the same time, Philippine staining can show the accumulation of unesterified cholesterol in the lysosome. Rectal biopsy can clearly show the deposition of type C nerve cells before neurological symptoms appear (sometimes years).

Infection is a common complication and the main cause of death, and active treatment should be given.

Prognosis: The prognosis is poor.

Prevention: If there is already a child-based disease, 50% of the fetuses pregnant in the future may have the disease. Therefore, the fetus should be tested for prenatal enzyme activity and artificial abortion if necessary.

treatment

1. Periocular Biofilm Implantation

A biofilm is implanted on the surface of the eyeball wall, and the adhesion between the biofilm and the eyeball wall is healed. In this process, the eyeball is stimulated to generate a large number of new blood vessels, increase blood supply to the retina and choroid, and improve blood circulation in the macula.

2. Superficial temporal artery shunt The superficial temporal artery in front of both ears can be divided into three branches. One branch supplies the eye, and the other two branches are truncated, so that all the blood in the superficial temporal artery is supplied to the eye and the blood in the eye is increased. supply.

3. After the acupoint injection operation around the eye, inject the medicine around the eye, so that the medicine can make the absorption of the medicine more direct and thorough, and further improve the curative effect of the surgery.

Convulsions, hypertension, ataxia, thinning of the cortex, secondary infections, lymphadenopathy, splenomegaly, anemia, retinal hemorrhage, edema, diuresis, demyelination, feeding difficulties, wasting, vasculitis, thrombocytopenia, punctate or flaming hemorrhage, fundus, macular, grayish discoloration, fundus, cherry, red spot