omphalocele-macrolingual-giant body syndrome
Introduction
Umbilical bulging-Giant tongue-Introduction to giant somatic syndrome Umbilical bulge - Exomphalosmacro-Glossia-Gigantism Syndrome is also known as neonatal hypoglycemia - giant tongue - visceral hypertrophy - umbilical bulging syndrome, neonatal hypoglycemia with visceral hypertrophy - giant tongue - cerebellar syndrome, Congenital hereditary disease is an autosomal recessive inheritance. In 1963, Beckwith first described the intrinsic, so it was called Beckwith syndrome. In 1964, Weidemann reported that the disease occurred in a three siblings. Therefore, it is also known as Beckwith-Weidemann syndrome. basic knowledge The proportion of illness: 0.003% Susceptible people: infants and young children Mode of infection: non-infectious Complications: seminoma, hepatoblastoma
Cause
Umbilical bulging - giant tongue - cause of huge somatic syndrome
The etiology of this disease is unclear. It is a congenital hereditary disease. It is an autosomal recessive inheritance. It often occurs in the offspring of close relatives. The pathogenesis of this disease is not yet clear. Some people measured the plasma insulin concentration in 4 children and found that they are obvious. Elevated, it is believed that the proliferation of pancreatic islet -cells and the production of hyperinsulinemia are the basis of hypoglycemia. Some people believe that islet -cell function is relatively insufficient, and glycogenolysis may also be the cause of hypoglycemia.
Prevention
Umbilical bulging - giant tongue - prevention of huge somatic syndrome
Regular abdominal ultrasound examination during pregnancy can be used to detect umbilical bulge early so that treatment can be taken immediately after delivery.
Complication
Umbilical bulging - giant tongue - complications of huge somatic syndrome Complications, seminoma, hepatoblastoma
Adrenal adenoma, Wilms tumor, seminoma, hepatoblastoma, and abdominal tumors.
Symptom
Umbilical bulging - giant tongue - giant somatic syndrome symptoms common symptoms convulsions loss of consciousness giant tongue clitoris hypertrophy thin face flaming mother spot cryptorchidism sacral muscle defect small head water too much
Clinically, both men and women can develop the disease. The child shows many abnormal appearances after birth. The body is obviously larger than the average newborn. The tongue is huge, often sticking out of the mouth, and the activity is awkward, affecting the normal breast-feeding movement and bite, and the mouth does not increase. There are often abdominal enlargement umbilical bulging or umbilical hernia. The child can be thinned within 1 month after birth, and the subcutaneous fat is obviously reduced, but in the next few months, the growth gradually accelerates, even close to the huge deformity, to about 1 year old, The expression is unclear, speech disorder, mandibular protrusion to the front, hypoglycemia episodes of this disease, can occur within a few hours after birth, and then recurrent, severe cases of convulsions, loss of consciousness, blood sugar can be lower than 1.1mmol/L, the episode of hypoglycemia is most frequent within 1 month after birth, and then gradually decreases. It usually stops after 3 to 4 months, but it also lasts until 2 to 3 years old, but there is also no hypoglycemia. Author.
According to statistics, the incidence of hypoglycemia accounts for about 33% to 50%, visceral hypertrophy is also common, such as liver, kidney, pancreas, heart, etc. have disproportionate hypertrophy, in addition, there may be face flaming mother spots, ears Profile deformity, central hypoplasia, diaphragmatic defect, clitoris hypertrophy, cryptorchidism, intestinal torsion and maternal amniotic fluid, huge fetus, etc., children with mild mental retardation, microcephaly, etc., children can survive to children In the period, there may be half-body hypertrophy, often suffering from malignant tumors, such as adrenal adenoma, Wilms tumor, seminoma, hepatoblastoma and abdominal tumor.
Examine
Umbilical bulging - giant tongue - examination of huge somatic syndrome
Laboratory tests found that blood glucose decreased, plasma cortisol and thyroxine (T4) were measured in the normal range, intravenous glucose infusion to children can stimulate insulin secretion, the application of glucagon (Glucagon) and D860 test can cause The obvious and long-lasting secretion of insulin induces hypoglycemia, normal urine examination, and increased peripheral red blood cells.
Diagnosis
Umbilical bulging-Giant tongue-Diagnosis of giant somatic syndrome
It can be diagnosed based on the patient's clinical symptoms and laboratory tests. Identification with other obesity, tumors.
