pediatric osteosclerosis
Introduction
Introduction to pediatric osteopetrosis Osteopesis, also known as marble osteopathy, is characterized by systemic osteosclerosis, abnormal bone formation, progressive anemia, hepatosplenomegaly, and easy fracture, often with a family history. basic knowledge The proportion of sickness: 0.00001% Susceptible people: children Mode of infection: non-infectious Complications: chicken chest hydrocephalus osteomyelitis
Cause
Causes of pediatric osteopetrosis
(1) Causes of the disease
So far, the cause of osteosclerosis is still not very clear. In recent years, animal models and experiments with radionuclides have shown that osteopetrosis is neither related to the production and secretion of parathyroid glands, nor to blood. The number of calcitonin in the current, most people think that the cause of osteopetrosis is caused by dysfunction of osteoclasts.
(two) pathogenesis
The disease is autosomal recessive, the bone is hard and brittle, and the section is grayish white. Due to the decrease of osteoclasts and its dysfunction, the absorption activity of the bone is weakened and the bone accumulates. The bone marrow cavity is mostly proliferated calcified cartilage. The stuffing, the medullary cavity is invisible, the bone marrow tissue is atrophy, the blood-forming part is reduced, anemia occurs, the trabecular bone is thickened, and the number is increased. Among them, the cartilage island can be seen, the cortical bone hyperplasia becomes thick, and the cancellous bone is dense and hardened. The hematopoietic organs other than the bone marrow, such as the liver, spleen, lymph nodes, secondary enlargement, fragile bone, prone to fracture,
Prevention
Pediatric osteosclerosis prevention
The disease is a genetic disease, and the prevention of genetic diseases is as follows:
1. Premarital health checkup. Men and women who have been determined to have a relationship should undergo a comprehensive system of health checks before proceeding with the marriage registration process. In particular, it is important to avoid close relatives getting married. Offspring of close relatives who suffer from mental retardation, congenital malformations, and various genetic diseases are several times more likely to marry than non-close relatives.
2. Genetic counseling before pregnancy. Both men and women or one party, if there are genetically ill patients in their relatives, are worried about whether they will have the same genetic disease after marriage, they should be consulted whether they can get married, if the consequences of marriage are serious; one of the two parties has a certain disease, but I do not know Is there a chance of getting a genetic disease, can it be married, and passed on to future generations? The doctor will make a clear diagnosis and give a reasonable treatment.
3. Prenatal screening to avoid the birth of the child. Prenatal screening is mainly for diseases that currently have no good treatment, and the purpose is to prevent the birth of defective children. Usually in the 16th to 20th week of pregnancy, 2-3 ml of peripheral blood of pregnant women should be examined. If the risk of high risk is found (high risk factor exceeds 1/270), further amniocentesis should be taken to confirm the diagnosis.
Complication
Pediatric osteosclerosis complications Complications, chicken, hydrocephalus, osteomyelitis
Prone to bone deformity, common chicken breast, hip varus and scoliosis, etc., lymph nodes and liver, spleen enlargement, easy to cause infection and bleeding symptoms, hydrocephalus, osteomyelitis and so on.
Symptom
Pediatric osteosclerosis symptoms Common symptoms Hip varus pale pale eyes wide front anterior full child repeated fractures deaf hydrocephalus
Clinical classification
Clinically divided into 2 types:
(1) Severe type: Also known as juvenile or malignant type, it is autosomal recessive, more symptoms appear soon after birth, and often die within 1 year old.
(2) Light type: Also known as adult or benign type, it is autosomal dominant, with mild or no symptoms. Sometimes it is found on X-ray examination that patients can survive for a long time.
2. Clinical manifestations
Most of them have become ill since infancy, showing pale, square skull, full anterior iliac crest, wide eye distance, blindness, fractures, etc. Although the bones of the sick children are thick, they are weak, easy to fracture, and there is no difficulty in healing after fracture. It is prone to malformation. Due to the disappearance of the marrow cavity, the blood function is low, progressive anemia, lymph nodes and liver, and spleen can be enlarged. In heavier cases, white blood cells and platelets can be significantly reduced, which may lead to infection and bleeding symptoms. In the peripheral blood, naive red, white blood cells, slightly granulocyte-type leukemia, bone deformity in addition to the skull, common chicken breast, hip varus and scoliosis, etc., birth retardation or hypoplasia, if the bone below the skull Thickening, oppression of the cranial nerve pathway, can cause optic atrophy, deafness, facial nerve palsy and oculomotor nerve spasm, and even hydrocephalus due to cerebrospinal fluid circulation disorders, sometimes complicated by osteomyelitis, more common in the mandible, mild cases can be It was ignored and was found during regular X-ray examination.
Examine
Examination of pediatric osteopetrosis
1. Blood routine examination: red blood cells and hemoglobin are reduced in peripheral blood. In severe cases, white blood cells and platelet counts are reduced. In the peripheral blood, naive red and white blood cells may appear, and white blood cell count and neutrophils may be significantly increased during infection.
2. Blood biochemical examination: serum calcium, phosphorus and alkaline phosphatase are normal, and some patients may have elevated serum calcium.
3. Bone marrow examination: In severe cases, there is low bone marrow hyperplasia, and bone marrow aspiration is mostly difficult to succeed.
4. X-ray film shows that the whole body bone is dense and hardened, and the original structure is lost. The long bones are in the shape of a scorpion, and the horizontal and vertical bands are alternately visible. The vertebral body has two layers of dense and central transparent images. The increase in density is most pronounced at the base of the skull, and the pores at the base of the skull become smaller.
Diagnosis
Diagnosis and diagnosis of pediatric osteopetrosis
diagnosis
In addition to relying on clinical features, X-ray films show that the bones are generally dense and hardened, lose the original structure, can be diagnosed, and the bone age is generally normal.
Differential diagnosis
In infants and young children, the disease can coexist with rickets, pay attention to identification.
