omphalocele - macroglossia - macroglossia syndrome
Introduction
Umbilical bulging - giant tongue - giant syndrome Umbilical bulge-acromphalus-macroglossia-megasomasyndrome (AMMS) is a special type of congenital umbilical bulge. Bubl described this case in 1861, but did not mention the change of the giant tongue. In 1963, Beckwith and Wiedemann in 1964 described the disease in more detail, so it is also commonly called Beckwith-Wiedemann syndrome. basic knowledge The proportion of illness: 0.001% Susceptible people: good for infants and young children Mode of infection: non-infectious Complications: umbilical bulging
Cause
Umbilical bulging - the cause of giant tongue - giant syndrome
(1) Causes of the disease
The etiology of this disease is still unclear. Case studies have found that the disease has a familial morbidity. It may be a monogenic genetic disease, and the chromosome is recessive. Some authors believe that the disease is characterized by hypoglycemia, increased insulin and growth hormone, and is an endocrine abnormality. As a result, Wiedemann believes that the disease is caused by a certain release factor in the subthalamic area.
(two) pathogenesis
The disease may be associated with multiple malformations, histopathology: the giant tongue is mainly muscle hypertrophy, the number of muscle fibers is increased, the development is normal, the growth is slow, the structure of pancreatic islets is basically normal, but the number is increased, the volume is increased, pancreatic acinus and pancreas Tube hyperplasia, lowering blood sugar, hypoglycemia in sick children, glomerular formation in renal cortex continues, enlargement and formation of collecting duct, poor structure of renal medullary pyramid, proliferation of testicular stromal cells, ovarian follicular cyst Pituitary neutrophil hyperplasia, hepatosplenomegaly, a large number of extramedullary hematopoietic foci and myeloid metaplastic cells scattered, occasionally liver fat infiltration.
Prevention
Umbilical bulging - giant tongue - giant syndrome prevention
There is no effective preventive measure for this disease. Early detection and early diagnosis are the key to the prevention and treatment of this disease.
Complication
Umbilical bulging - giant tongue - complications of giant syndrome Complications, umbilical bulging
This disease is generally uncomplicated.
Symptom
Umbilical bulging - giant tongue - symptoms of giant syndrome common symptoms convulsions, breathing difficulties, shortness of breath, giant tongue, weakness, nystagmus
Umbilical bulging is the most prominent malformation of this syndrome, 85% can have a giant tongue, the tongue is large and thick out of the mouth, the oral secretions are more, the breathing is short, the sucking is weak, the birth weight and body length of the child exceed the normal standard, low blood sugar Can occur 24 to 48 hours after birth, manifested as difficulty breathing or suspension, nystagmus, convulsions, fainting, low muscle tone, etc., can lead to death or permanent brain damage, visceral hypertrophy, especially kidney, pancreas and liver enlargement It is also an important manifestation of this syndrome. Giant kidney accounts for about 80%. Children may have nephroblastoma, hepatoblastoma, adrenocortical carcinoma, pancreatic cancer, gonadal tumor, etc. It is worthy of special attention. There are other malformations and abnormalities, such as visceral hypertrophy, hemiplegia, earrings with oblique serrated fissures, erythema of the frontal eyebrows, heart and genitourinary malformations.
Examine
Umbilical bulging - examination of giant tongue-macro syndrome
1. Check the relevant tests for blood sugar as appropriate.
2. Examination related to growth hormone metabolism. Perform imaging examinations as appropriate, such as B-ultrasound, Doppler, X-ray, CT, etc., to understand whether there is associated malformation. Examination of metabolic related biochemical and hormonal items.
Diagnosis
Umbilical bulging-diagnosis of giant tongue-macro syndrome
According to the typical three major symptoms: umbilical bulging, giant tongue, birth weight and body length are beyond the normal standard, sick children grow rapidly after birth, Wiedemann believes that if the three major symptoms are missing, but with other malformations or abnormalities, can still be diagnosed as The syndrome.
This disease is generally not confused with other diseases.
