asplenia syndrome in children
Introduction
Introduction to children without spleen syndrome Pediatric spleen syndrome is characterized by congenital spleen hypoplasia or spleen, accompanied by cardiac vascular malformation with cavity and pulmonary venous reflux abnormalities, and a disease with abnormal chest and abdominal visceral location. basic knowledge The proportion of illness: this disease is rare, the incidence rate is about 0.0001% Susceptible people: children Mode of infection: non-infectious Complications: pediatric malnutrition
Cause
Causes of spleen-free syndrome in children
Cause:
The cause of this disease is unknown.
Pathogenesis:
This abnormality occurs in the embryo for 4 to 5 weeks. Due to the effects of certain teratogenic factors, such as viral infection during the mother's pregnancy, various malformations caused by the suspension of embryonic development are mainly caused by abnormalities of the cardiovascular organs. When the embryo develops some factors in the developmental stage of 24 to 27 weeks, this stage is exactly a congenital variety composed of the spleen, the development of the lungs, the development of the pulmonary veins, and the final fixation of the stomach and duodenum. The symptoms of organ malformation, the intrinsic family history report, multiple siblings suffering from this sign, its genetic pattern is autosomal recessive inheritance.
Prevention
Prevention of spleen syndrome in children
The cause is unknown. According to the prevention method of congenital diseases, preventive measures should be carried out from pre-pregnancy to prenatal:
1. Premarital medical examination plays an active role in preventing birth defects: The size of the effect depends on the examination items and contents, mainly including serological examination (such as hepatitis B virus, treponema pallidum, HIV), reproductive system examination (such as screening for cervical inflammation) ), general physical examination (such as blood pressure, electrocardiogram) and asking about the family history of the disease, personal medical history, etc., do a good job in genetic disease counseling.
2. Pregnant women should avoid harmful factors as far as possible: including away from smoke, alcohol, drugs, radiation, pesticides, noise, volatile harmful gases, toxic and harmful heavy metals, etc., in the process of antenatal care during pregnancy, systematic screening of birth defects is required. Including regular ultrasound examination, serological screening, etc., if necessary, a chromosome examination.
Once an abnormal result occurs, it is necessary to determine whether to terminate the pregnancy; the safety of the fetus in the uterus; whether there is sequelae after birth, whether it can be treated, how to prognose, etc., and take practical measures for diagnosis and treatment.
Complication
Pediatric spleen syndrome complications Complications, malnutrition in children
Often complicated by serious infections, nutrition, developmental disorders, etc., often caused by outbreaks of infection and cardiovascular congenital anomalies.
Symptom
Symptoms of spleen-free syndrome in children Common symptoms Infant feeding difficulties Immune dysfunction Hair loss After birth, there is persistent cyanotic vascular malformation, systolic murmur, dyspnea, pre-cardiac anterior tachycardia
1. Continuous cyanosis: The patient has persistent cyanosis after birth, difficulty breathing, difficulty feeding, growth retardation, tachycardia and hypoxic symptoms, which resembles cyanotic congenital heart disease.
2. Symptoms and signs of cardiovascular abnormalities: older people may have clubbing (toe), anterior palpebral bulge, and about half of the cases have diffuse systolic murmurs along the left sternal border.
3. No spleen: Abdominal B-ultrasound found that the spleen is extremely small or even absent.
4. Poor immune function: low resistance, various infections often occur, and serious infections are often the cause of death.
5. Multiple malformations: In addition to no spleen and cardiovascular malformations, there are often abnormalities such as gastrointestinal transposition.
Examine
Examination of spleen-free syndrome in children
Blood tests showed signs of spleen-free hematology. If there were positive red blood cells, the nearby red blood cells showed Howell-Jolly body and Heiz body, and hemosiderin particles.
1. Electrocardiogram examination: abnormal electrocardiogram, variability of pacemaker point.
2. Cardiovascular angiography: It can prove the type of cardiovascular malformation, including two-chamber heart, pulmonary dysplasia, three-chamber heart, large vessel dislocation, atrial septal defect and permanent arterial trunk. In addition, the vena cava is reversed. Flow anomalies are characteristic.
3. X-ray gastrointestinal examination or ultrasound examination: the spleen may be found to be absent or extremely small, the liver is not biased, and the gastrointestinal tract has an index.
Diagnosis
Diagnosis and differentiation of children without spleen syndrome
1. Hairpin: The hair strand persists after birth.
2. Digestive system: visceral translocation, bilaterally symmetric liver is transverse liver, spleen is absent or very small, and splenic artery is absent.
3. Cardiovascular system: residual vena cava on both sides, inferior vena cava, descending aorta in parallel.
4. Blood test: The presence of the nearbywell red blood cell Howell-Jolly body has a diagnostic significance.
Distinguish from functional spleen deficiency, can be seen in sickle cell anemia, confirmed by CT scan without spleen shadow.
