Peutz-Jeghers syndrome

　　1. Etiology: The relationship between the pigmented spots and polyps is not yet clear, and it is a dominant genetic disease with a high penetrance.

　　2. Pathogenesis: Polyps are multiple, with fewer numbers than those in familial cases. Polyps can be scattered throughout the entire gastrointestinal tract, with the highest incidence in the jejunum and ileum, accounting for over 90%, and rarely occurring in the stomach, duodenum, and colon. The size of polyps varies greatly, from a few millimeters to several centimeters, most with a pedicle containing muscle tissue, which allows them to stand up. The surface of the polyps is not smooth, and the top can erode or bleed. The incidence of malignancy in this syndrome is low, ranging from 1% to 3%. It often requires surgery due to the induction of intussusception and anemia. Microscopic examination of the polyps shows that they are composed of normal glands, epithelial cells, and smooth muscle branches from the lamina propria, and are generally considered benign adenomas. Some people believe they are hamartomas. Such patients often have skin and mucosal pigmented spots, the relationship between which is unclear. The melanotic spots are mostly distributed on the lips, buccal mucosa, tongue, gingiva, hard palate, palm, sole, fingers, and toes, and can be brown or black, linear, oval, or irregular spots of 1 to 5mm in size, not fused, with clear boundaries and not protruding from the skin. The pigmented spots may appear soon after birth or in childhood, and with the growth of age, the color of the skin spots can gradually fade or disappear after puberty, while the spots on the mucosa do not disappear.

　　1. Intussusception: When a segment of the intestine is invaginated into the lumen of the connected intestinal tube, it is called intussusception. Its occurrence is often related to anatomical characteristics of the intestines (such as an excessively large cecum), pathological factors (such as intestinal polyps, tumors), and intestinal dysfunction or abnormal peristalsis. It can be classified into various types according to the site of occurrence, such as ileocecal intussusception, small bowel intussusception, and colonic intussusception.

　　2. Clinical manifestations: Abdominal pain is an early symptom, characterized by a healthy infant suddenly experiencing severe, regular, paroxysmal abdominal pain without any trigger.

　　3. The child exhibits paroxysmal crying, restlessness, leg flexion, and pale complexion. Each episode lasts about 10 to 20 minutes, followed by quiet sleep or normal play, and then suddenly recurs after tens of minutes, with symptoms as before. This反复 occurs multiple times, leading to the child's decreasing spirit, exhaustion, and pale complexion.

　　4. This regular paroxysmal abdominal pain is caused by the strong peristaltic wave pushing the entrapped intestinal tract forward, pulling the mesentery, and at the same time, the intussusception sheath contracts strongly. Some smaller children may not have severe crying and screaming, but rather show intermittent restlessness and pallor, and then enter a shock state, which requires special vigilance.

　　The main symptoms are pigmented spots on the skin and mucous membranes, accompanied by typical recurrent spastic abdominal pain. Spastic abdominal pain is often caused by intussusception, which may be accompanied by bloody stools. During abdominal pain, a sausagelike mass can be felt. Intussusception is usually transient, and some can be复位 themselves, and may recur after several years or months. Patients often have microcytic anemia, poor development and nutrition, frequent dizziness. Diagnosis can be made by combining skin and mucous membrane pigmented spots and recurrent spastic abdominal pain with laboratory tests, X-ray, endoscopic examination, and biopsy. Polyps mostly occur in the small intestine, followed by the duodenum, and there are also reports of occurrence in the stomach, esophagus, and appendix.

　　1. Pre-marital physical examination plays a positive role in preventing birth defects. The extent of its role depends on the items and content of the examination, mainly including serological examination (such as hepatitis B virus, syphilis spirochete, HIV), reproductive system examination (such as screening for cervical inflammation), general physical examination (such as blood pressure, electrocardiogram), and inquiring about family history of diseases and personal medical history, and doing genetic counseling work well.

　　2. Pregnant women should try to avoid harmful factors, including staying away from smoke, alcohol, drugs, radiation, pesticides, noise, volatile harmful gases, and toxic and harmful heavy metals. During the prenatal health care process of pregnancy, systematic screening for birth defects should be carried out, including regular ultrasound examination, serological screening, and, if necessary, chromosomal examination. Once abnormal results are found, practical and feasible diagnostic and treatment measures should be taken.

　　Blood routine examination shows microcytic hypochromic anemia, occult blood in feces is positive, and blood picture examination shows a decrease in hemoglobin, a decrease in the number of red blood cells, and a more significant decrease in hemoglobin than the number of red blood cells. The red blood cells are mostly small, with light central staining, and the mean corpuscular hemoglobin (MCH) is reduced.

　　1. Barium enema X-ray examination shows multiple polyps in the small intestine.

　　5. Endoscopic examination, including fiberoptic duodenoscopy, enteroscopy, and colonoscopy, as well as biopsy, can further confirm the diagnosis.

　　One: Dietary therapy for children with Bo-Jie syndrome

　　1. Wu Jiang Yi Si Decoction: Composed of 9 grams of Bupleurum chinense, 9 grams of Pinellia ternata, 9 grams of Sparganium stoloniferum, 10 grams of Citrus reticulata, 10 grams of Prunus mume, 10 grams of Bombyx mori, 10 grams of Sinapis alba, 30 grams of Coix seed, 15 grams of white peony root, 15 grams of Forsythia suspensa, and 6 grams of licorice. It is decocted in water and taken once a day, three times a day. Alternatively, it can be made into water pills, 9 grams per time, taken three times a day. Generally, a course of treatment lasts for 2-3 months, and severe cases may require 2-3 courses. For those with severe liver depression, add Pericarpium citri reticulatae viride and Cyperus rotundus; for those with severe abdominal distension, add Magnolia officinalis; for constipation, add Rhubarb; for those with stasis, add Salvia miltiorrhiza and Prunus persica.

　　2. Take 10 grams of hawthorn, 10 grams of chrysanthemum flowers, 15 grams of cassia seed, and decoct the decoction as tea or drink green tea.

　　Second, what foods are good for children with Bo-Jie syndrome

　　1. It is advisable to eat more various fresh fruits and vegetables, and low-fat, low-cholesterol foods such as: mushrooms, wood ear, celery, sprouts, kelp, lotus root, fish, rabbit meat, chicken, fresh beans, etc.

　　2. It is advisable to eat more dried beans and their products.

　　3. It is advisable to use vegetable oil and not animal oil.

　　4. When drinking water, add a little hawthorn, sea buckthorn, ginkgo, and astragalus grass into the cup and drink it as tea.

　　5. Eat more foods rich in vitamin A, such as green vegetables, carrots, tomatoes, Chinese cabbage, spinach, chives, corn, radishes, etc.

　　Third, what foods should children with Bo-Jie syndrome avoid

　　1. Eat less spicy food, raw garlic, and other刺激性 food or spicy food.

　　2. Avoid eating high cholesterol foods such as: eggs (especially yolks), fatty meat, seafood, scaleless fish, animal internal organs, and other foods.

　　3. Abstain from alcohol and alcoholic beverages. Alcohol is mainly metabolized and detoxified by the liver in the body, so alcohol can directly damage liver function, cause liver and gallbladder dysfunction, disrupt the secretion and excretion process of bile, thereby stimulating the gallbladder to form new polyps or causing the original polyps to grow and become larger.

　　First, surgical treatment should be considered in the following situations

　　1. There are frequent intermittent abdominal colic, and the symptoms cannot be relieved after conservative treatment, affecting the growth and development of children.

　　2. Intestinal obstruction or intussusception cannot be relieved spontaneously.

　　3. Large amount of blood loss or long-term chronic blood loss, conservative treatment cannot be controlled or anemia cannot be corrected.

　　4. The possibility of malignant transformation cannot be ruled out. Most operations do not remove the intestinal tract, and only remove the polyps after the intussusception is reduced. Sometimes it is necessary to make multiple incisions to remove polyps.

　　Second, the prognosis of this disease is usually asymptomatic in daily life

　　Or occasionally there may be mild abdominal pain or discomfort, but for its complications such as intussusception, intestinal obstruction, hematochezia, etc., early diagnosis and early treatment should be carried out. Delay in treatment can also cause death. Although the tendency to become malignant is low in clinical practice, the results of risk factor analysis show that the risk of patients with PJ syndrome developing malignant tumors is 18 times higher than that of the general population, so lifelong follow-up is recommended.