What is Beckwith-Wiedemann syndrome?

Beckwith-Wiedemann syndrome is characterized by neonatal hypoglycemia, giant tongue, giant body, giant viscera, eccentric overgrowth, and abdominal wall defects, and is one of the most common overgrowth syndromes, with most cases being sporadic. The critical region of the disease is located at 11p15.5. Clinical features: The main features include giant tongue, giant body dysmorphism, bilateral asymmetry of the trunk, abdominal wall defects, and risk of germ cell tumorigenesis. The child has intrauterine overgrowth during fetal life and is born with macrosomia, unilateral body hypertrophy, erythrocytosis, hypoglycemia and can be associated with seizures. After birth, there is accelerated bone maturation and excessive narrowing of the backbone. The child has normal or mild to moderate mental retardation. Umbilical hernia, abdominal cleft; giant visceral malformation with posterior diaphragmatic rise; renal medullary dysplasia; overproliferation of the pancreas and excessive insulin secretion. High susceptibility to germ cell tumors, including Wilms tumor, gonadotrophic tumor and adrenal carcinoma, etc. Wilms tumor is more common. Treatment: Most of them can only be treated symptomatically. Treatment of hypoglycemia in the early neonatal period is critical to reduce central nervous system complications. Treatment of neonatal erythrocytosis. Deformities such as megalingualism can be corrected with appropriate surgical procedures. The newborn and infant patients should be placed in the lateral or prone position to help ventilate and avoid asphyxia due to macroglossia, etc. and to reduce early mortality. regular ultrasound or CT monitoring of the kidneys, liver and adrenal glands should be performed every three months until the age of 7 years to facilitate timely detection of abdominal tumors, especially important for those with unilateral hypertrophy. serum AFP should be performed regularly every 6-12 weeks until the age of 3 years to facilitate timely detection of liver The tumor should be detected in time. Prevention: For patients with family history or who have given birth to BWS, ultrasound examination during pregnancy should be performed for early diagnosis of suspected cases. Routine amniotic fluid or chorionic villus cell culture with relevant genetic diagnostic tests can help in prenatal diagnosis.