Pediatric Bo-Jay Syndrome
Introduction
Introduction to Pediatric Wave-Jie Syndrome Pautz-Jegherssyndrome refers to the presence of scattered polyps in the gastrointestinal tract, and multiple melanin in the mouth and hands and feet. The disease is rare, the incidence rate for men and women is equal, and about half of the cases have a family history. basic knowledge The proportion of illness: 0.0006% Susceptible people: children Mode of infection: non-infectious Complications: intussusception anemia intestinal obstruction
Cause
Pediatric wave-Jie syndrome
(1) Causes of the disease
The relationship between pigmented spots and polyps is not clear, it is a dominant genetic disease with high exogenousness.
(two) pathogenesis
Polyps are multiple, the number is much less than that of familial, polyps can be distributed in the whole digestive tract, empty, ileal incidence is the highest, accounting for more than 90%, rarely occurs in the stomach and duodenum, colon, polyps size The difference is obvious, small several millimeters, large number of centimeters, more pedicle, pedicle has muscle composition, so it can be erected, the surface of the polyp is not smooth, the top can be eroded or hemorrhage, the cancer rate of this syndrome is lower, in 1 % to 3%, often due to intussusception and anemia requiring surgery, microscopic examination of polyps can be seen from normal glands, epithelial cells and smooth muscles in the proliferative branches of the lamina propria, generally considered to be benign adenomas, others are considered to be one Hamartomas, such patients with skin and mucosal pigmentation, the relationship between the two is unclear, melanin plaques are mostly distributed in the lips, buccal mucosa, tongue, gums, hard palate, palm, sputum, fingers, feet The surface of the toe can be brown or black. It is linear, oval or irregular. The size of the 1-5 mm is not fused. The border is clear and the skin is not prominent. The pigmented spots can appear shortly after birth or at an early age. With the year Growth, pigmented spots on the skin color of faded or may subside after puberty, spots on the mucous membrane does not go away.
Prevention
Pediatric wave-Jie syndrome prevention
Focus on genetic disease counseling, preventive measures refer to other birth defects, prevention should be from pre-pregnancy to prenatal.
Premarital medical examination
The role of a positive role in the prevention of birth defects depends on the examination items and content, mainly including serological tests (such as hepatitis B virus, Treponema pallidum, HIV), reproductive system tests (such as screening for cervical inflammation), general physical examination ( Such as blood pressure, electrocardiogram) and ask about the family history of the disease, personal medical history, etc., do a good job in genetic disease counseling.
2. Pregnant women avoid harmful factors as much 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, including regular ultrasound, serology Screening, etc., if necessary, chromosomal examinations are required. Once abnormal results occur, practical measures are needed.
Complication
Pediatric wave-Jie syndrome complications Complications, intussusception, anemia, intestinal obstruction
Can be complicated by intussusception, anemia, nutritional disorders, etc., even if it can cause complete intestinal obstruction.
Symptom
Pediatric wave-Jie syndrome symptoms common symptoms abdominal pain pigmented spots dizziness intussusception black spots
There are pigmentation spots on the skin mucosa, accompanied by typical recurrent abdominal pain, which is the main symptom. The abdominal pain is caused by intussusception, which may be accompanied by bloody stools. When the abdominal pain occurs, the sausage-like mass can be touched. The folds are temporary, and some can be reset by themselves. They can recur after every few years or months. Patients have hypochromic anemia, poor developmental nutrition, frequent dizziness, skin pigmentation spots and recurrent episodes. Abdominal pain, combined with laboratory tests and X-ray, endoscopy and biopsy can be diagnosed, polyps occur in the small intestine, followed by the duodenum, also reported in the stomach, esophagus and appendix.
Examine
Pediatric wave-Jie syndrome examination
Blood routine examination found small cell hypochromic anemia, stool examination occult blood positive, blood picture examination features hemoglobin decreased, red blood cell count decreased, and hemoglobin reduction was more obvious than red blood cell count, red blood cell volume was smaller, center light stain, average red blood cells Hemoglobin amount (MCH) < normal, 12 to 25 (reference value 27 to 31 fl); mean red blood cell volume (MCV) < normal, 50 to 80 (reference value 80 to 98 pg); mean red blood cell hemoglobin concentration (MCHC) < normal, 240 ~300 (reference value 320 ~ 360g / L).
1. X-ray barium enema found multiple polyps in the small intestine.
2. Endoscopic examination of fiber duodenoscopy, enteroscopy and colonoscopy and biopsy can be further confirmed.
Diagnosis
Diagnostic Identification of Pediatric Wave-Jie Syndrome
According to the clinical symptoms and the appearance of dark spots on the lips, gums and other parts of the gastrointestinal tract, polyps can be found.
Sudden abdominal pain occurs, when intussusception, it is differentiated from acute abdomen caused by other causes.
