Pediatric Berl-Weir Syndrome
Introduction
Introduction to Pediatric-Wei syndrome Beckwith-Wiedemannsyndrome is the umbilical cord, exomphalos-macroglossia-gigantism syndrome, also known as EMG syndrome, Wiedemann type II syndrome, Wilm tumor and hemiplegia syndrome, Beckwith syndrome, Neonatal hypoglycemia giant visceral giant tongue syndrome (neonatalhypoglycemiavisceromegalymacroglossia microcephalysyndrome). This symptom is a rare congenital malformation characterized by umbilical bulging, giant tongue and giant body, and may be accompanied by other malformations and abnormalities such as hypoglycemia, visceral hypertrophy, hemiplegic hypertrophy, small head, umbilical abnormalities, facial erythema , cryptorchidism, clitoris hypertrophy, heart malformation, giant kidney, giant ureter, giant eyeball, etc., and some have certain relationship with some tumors. It may also be polygenic inheritance for autosomal dominant inheritance. basic knowledge The proportion of illness: 0.001% Susceptible people: young children Mode of infection: non-infectious Complications: speech disorders cryptorchidism hepatoblastoma nephroblastoma
Cause
The cause of Pediatric-Wei syndrome
Cause:
The cause of Bo-Wei syndrome is unknown, and may be an autosomal monogenic hereditary disease. It is also believed that multiple genes may be inherited.
Pathogenesis
Wiedemann believes that the disease is caused by a certain release factor in the subthalamic area, and some people think that it is caused by endocrine abnormalities. It is characterized by hypoglycemia, radioimmunoassay, insulin and growth hormone, etc. Pancreatic pathological examination shows islet cells. Hyperplasia, electron microscopy showed increased secretion of beta cells.
Prevention
Pediatric-Wei syndrome prevention
Pay attention to rest, work and rest, and orderly life. Parents should choose a variety of beans, certain meats and fish for fruits, vegetables, cereals, peas and broad beans. High sugar, high protein diet, and a small amount of meals. For hypoglycemia caused by congenital metabolic disorders, such as galactosemia or fructose intolerance, milk should be stopped and lactose-free food should be given. Fructose-tolerant people should avoid sucrose, sweets or fruit and use a fructose-free diet. High-protein, high-carbohydrate multi-meal therapy for keto-induced hypoglycemia. Those who are allergic to leucine use carbohydrate as the main food and limit leucine foods (such as milk and eggs). Avoid eating digestible carbohydrates or high-glycemic index foods, because the foods produced by high blood sugar are absorbed quickly, and the blood sugar will drop rapidly after a period of time, causing the body's blood sugar to drop.
Complication
Pediatric-Wei syndrome complications Complications speech disorder cryptorchidism hepatoblastoma nephroblastoma
Giant tongue affects sucking action, causing feeding difficulties, speech disorders, unclear words, convulsions, giant kidney, giant eyeball, giant ureter, idiopathic cardiac hypertrophy, cryptorchidism, clitoris hypertrophy, diaphragmatic defect, facial erythema, facial flaming Spotted, etc., susceptible to Wilm tumor, hepatoblastoma, nephroblastoma, gonadal tumor, adrenal cancer and so on.
Symptom
Pediatric-Wei syndrome symptoms Common symptoms Heart malformation Heart hypertrophy Giant tongue Small head clitoris Hypertrophy consciousness loss
1. Umbilical bulge: It is the main most prominent malformation, generally a giant umbilical bulge, with a base width of more than 6 cm, which may contain the liver and/or small intestine.
2. Giant tongue: The tongue is full of mouth and the tongue is often extended out of the mouth. Because the mouth does not increase, the giant tongue affects the sucking action and causes feeding difficulties, affecting normal biting, resulting in speech disorder and unclear words.
3. Giant body: The body of the child is obviously larger than the average newborn. The body weight and body length of the giant body are significantly higher than the normal age. The giant body continues to grow with age, and some of them show growth and hyperactivity. .
4. Hypoglycemia: There is hypoglycemia in the neonatal period, especially in premature infants. Most of the hypoglycemia occurs 24 to 48 hours after birth, even a few hours after birth, frequent episodes in the first month, severe cases can be Chronic convulsions, loss of consciousness, hypoglycemia usually gradually stopped after 3 to 4 months after birth, and the blood glucose of the patients returned to normal after surgery.
5. Other abnormalities in the umbilicus: There may be umbilical hernia, umbilical cord hernia, and rectus abdominis separation.
6. Other malformations: visceral hypertrophy, giant kidney, giant eyeball, giant ureter, cardiac malformation, idiopathic cardiac hypertrophy, cryptorchidism, clitoris hypertrophy, diaphragmatic defect, microcephaly, poor facial development, ear deformity, facial erythema Facial flaming mother spots, etc., especially in the frontal eyebrow vasospasm (Table 1).
7. Relationship with tumor: This disease has a tendency to easily affect certain tumors. The literature reports that about 10% of patients have Wilm tumor, hepatoblastoma, nephroblastoma, gonadal tumor, adrenal cancer, etc. Reported with a half-body hypertrophy, the likelihood of a combined tumor is greater, ranging from 25% to 30%.
Examine
Pediatric-Wei syndrome examination
Most of the blood glucose was 1.12mmol/L (20mg/dl), and the blood glucose of the domestic group was 1.24.4mmol/L (2379mg/dl) and the average was 2.8mmol/L (56mg/dl).
Conventional X-ray, B-ultrasound, echocardiography, angiography, etc., can be found in giant kidney, giant ureter, cardiac hypertrophy and deformity, cryptorchidism and other abnormalities.
Diagnosis
Diagnosis and diagnosis of Pediatric-Berger syndrome
Anyone with three characteristics (umbilical bulging, giant tongue, giant body) can be diagnosed, and hypoglycemia has been listed as the fourth major symptom of this symptom. In addition to the clinical manifestations of hypoglycemia, attention should be paid to blood glucose measurement to aid diagnosis. Wiedemann believes that if the three major symptoms are missing, but other abnormalities or abnormalities can still be diagnosed as this syndrome.
It is differentiated from diseases such as congenital heart disease, hydronephrosis, and sex chromosome abnormalities.
