paediatric macrocephaly syndrome
Introduction
Introduction to pediatric giant brain malformation syndrome Children's giant brain syndrome (Sotossyndrome) is cerebralgigantism, childhood cerebralgigantism syndrome (in children), also known as children's giant brain syndrome (macrencephalysyndrome), Sotos syndrome, in infants and children A school-aged child with a rapid development of skeletal growth, a large head, and a mental retardation syndrome. basic knowledge The proportion of illness: 0.003% - 0.006% Susceptible people: children Mode of infection: non-infectious Complications: mental retardation, ataxia, convulsions and convulsions
Cause
Causes of pediatric giant brain malformation syndrome
Causes:
The etiology of this disease is unknown, may be caused by pathological factors in the uterus, or the function of the hypothalamic-pituitary axis is damaged. Some people think that this disease is familial, is a dominant hereditary disease, male incidence is higher than female ( 4:1 or 3:1), it is usually considered as X-linked inheritance.
Pathogenesis:
The disease is caused by excessive secretion of certain non-endocrine growth regulators controlled by the central nervous system. In 1973, Butenandi pointed out that this disease may be caused by excessive growth of the growth hormone in the peripheral tissues. This disease and Lawrence-Seip syndrome and There are certain similarities and differences between Russell syndrome, so the three symptoms may be part of the same symptoms.
Prevention
Prevention of pediatric giant brain malformation syndrome
The etiology of this disease is unknown, may be related to pathological factors in the uterus, or damage to the function of the hypothalamic-pituitary axis. Some people think that this disease is X-linked inheritance, so it should refer to hereditary disease prevention measures.
Prevention should be carried out from pre-pregnancy to prenatal, pre-marital physical examination plays a positive role in preventing birth defects. The size of the effect depends on the examination items and contents, including serological examination (such as hepatitis B virus, treponema pallidum, HIV), reproductive system examination. (such as screening for cervical inflammation), general physical examination (such as blood pressure, electrocardiogram) and asking about the family history of the disease, personal medical history, etc., do a good job in genetic disease counseling.
Complication
Complications of pediatric giant brain malformation syndrome Complications, mental retardation, ataxia, convulsions and convulsions
Mental retardation, awkward or ataxia, abnormalities such as obesity and convulsions. The symptoms are special, with long heads, giant skulls, eye distances too far, congenital stigma-like oblique eyes, special face, mandibular protrusion, high sacral arch, mental retardation, awkward movement or ataxia. Sometimes there may be obesity, convulsions, abnormal handprints (referring to the increase in the number of ridges in the triangle ab, the large fish pattern and fingerprints are more common in the bucket pattern), but there are reports that the skin texture is abnormal.
Symptom
Symptoms of pediatric giant brain malformation syndrome common symptoms long head giant brain eye wide and severe mental retardation ataxia convulsions mandibular prominence sacral arch olfactory brain development disorder
The clinical manifestations of this disease are significant growth in the neonatal period, and there are long-headed giant brain, mental retardation, specific face and limb abnormalities.
The birth weight and length of the child are larger than normal, and the growth is rapid within 4 to 5 years after birth. Then the growth seems to be close to normal and stable. However, the measured value is still more than two standard deviations from the same age average. The disease has a special performance and is huge. Cranial, long head, eye distance too far, congenital stupid squint, special face, jaw protrusion, sacral bow high, mental retardation, awkward or ataxia, sometimes obesity, convulsions, abnormal handprint (It refers to the increase in the number of ridges in the triangle ab, the large fish pattern and fingerprints are more common in the bucket pattern), but there are also reports that the skin texture is abnormal.
Examine
Examination of pediatric giant brain malformation syndrome
The chromosome examination was normal, the fasting serum growth hormone concentration was normal, and the secretion stimulation test was normal. In some cases, the oral glucose tolerance test was abnormal, the blood 17-ketosteroid increased, and the 17-hydroxycorticosteroid was normal.
Ventricular cerebral angiography has different degrees of ventricular dilatation, mainly in the lateral ventricle and the third ventricle and brain parenchyma atrophy, and abnormal EEG.
Diagnosis
Diagnosis and diagnosis of giant brain syndrome in children
diagnosis
According to the clinical manifestations and laboratory, auxiliary examination confirmed, a positive family history is conducive to the diagnosis of this disease.
Differential diagnosis
Different from the congenital type, the laboratory test has 21-three body to help identify. 21-trisomy syndrome, also known as congenital or Down syndrome, is the most common birth defects caused by autosomal aberrations in children. As the name implies, the disease is a mental disorder with a special phenotype caused by innate factors. The incidence of 21-trisomy syndrome in live births in China is about 0.5-0.6, and the ratio of male to female is 3..2, 60% of children suffer from abortion in the early stage of the fetus. The main clinical features of the child are mental disorders, poor physical development and special facial features, and may be associated with multiple deformities.
