Pediatric Congenital Dwarf Dementia Syndrome
Introduction
Introduction to Congenital Dwarf Dementia Syndrome in Children Congenital warfare dementia syndrome (congenitaldwarfismdementiasyndrome) is also known as Noonan syndrome, Noonan-Ehmke syndrome, pseudo-Turner syndrome, pterygium syndrome, Turner male phenotype, male Turner syndrome. Currently considered to be autosomal dominant inheritance, it has the clinical features of Turner syndrome, with pulmonary artery stenosis, atrial septal defect, patent ductus arteriosus and hypertrophic cardiomyopathy and other congenital heart disease, and the chromosome examination is normal. basic knowledge The proportion of sickness: 0.0001% - 0.0002% Susceptible people: children Mode of infection: non-infectious Complications: intestinal obstruction
Cause
The cause of congenital pygmy dementia syndrome in children
(1) Causes of the disease
The disease is autosomal dominant and the karyotype is normal.
(two) pathogenesis
In recent years, this disease is considered to be polygenic, and mutations at the same site of X and Y may be submicroscopic deletions.
Prevention
Congenital pygmy dementia syndrome prevention in children
Pregnant women should avoid harmful factors as far as possible, including away from smoke, alcohol, drugs, radiation, pesticides, noise, volatile harmful gases, toxic and harmful heavy metals, etc. In the process of antenatal care during pregnancy, systematic screening of birth defects is required, including Regular ultrasound examination, serological screening, etc., if necessary, a chromosome examination.
Once an abnormal result occurs, it is necessary to determine whether to terminate the pregnancy; the safety of the fetus in the uterus; whether there is sequelae after birth, whether it can be treated, how to prognose, etc., and take practical measures for diagnosis and treatment.
The prenatal diagnostic techniques used are:
1 amniocytes culture and related biochemical examination (amniotic puncturing time is 16 to 20 weeks of pregnancy is appropriate).
2 pregnant women blood and amniotic fluid alpha fetoprotein determination.
3 ultrasound imaging (applicable in about 4 months of pregnancy).
4X-ray examination (after 5 months of pregnancy) is beneficial for the diagnosis of fetal skeletal deformities.
The sex chromatin of 5 villous cells was measured (40 to 70 days after conception), and the sex of the fetus was predicted to help diagnose the X-linked genetic disease.
6 application of genetic linkages.
7 fetal mirror examination.
Through the application of the above technology, the birth of a fetus with severe genetic diseases and congenital malformations is prevented.
Complication
Complications of congenital pygmy dementia syndrome in children Complications, intestinal obstruction
Various congenital anomalies, congenital cardiovascular abnormalities, infections, intestinal obstructions, etc.
Symptom
Pediatric congenital pygmy dementia syndrome symptoms common symptoms dementia neck short eye distance wide thoracic deformity eyelid drooping tricuspid lower elbow valgus angle increase jaw small amenorrhea severe mental retardation
1. The general performance of male and female can be sick, manifested as mental retardation (the gonad malformation has this symptom), growth and development disorders, male, male genital differentiation or complete absence or concealment; female from normal gonadal development to development Both bad and amenorrhea.
2. Various abnormalities of various types of congenital anomalies:
(1) Head and face: abnormal face such as drooping eyelids, widened eye distance, low position of both ears, small jaw, short neck and neck.
(2) Skeletal abnormalities: abnormal body such as short stature, thoracic deformity (chicken chest, funnel chest), scoliosis, etc.; abnormal fingers.
(3) Cardiovascular abnormalities: congenital cardiovascular abnormalities are weighted by the right heart system, but various congenital cardiovascular malformations can occur, such as pulmonary stenosis, tricuspid valve down, right ventricular hypertrophy, occasional atrial septum Defect, patent ductus arteriosus, etc.
(4) Others: if the sacral sag is abnormal, the sputum is abnormal, the elbow is everted, and the nail is incompletely formed.
3. Cranial dyskinesia often invades II, IV, V, VI, VII, XII cranial nerves.
4. Muscle lacks, such as the pectoral muscles, biceps, and so on.
Examine
Examination of congenital pygmy dementia syndrome in children
1. Routine examination: blood, urine, routine examination is generally normal.
2. Chromosome examination: The karyotype examination is mostly normal karyotype, and the buccal mucosa chromosome examination is consistent with its gender, that is, male is negative and female is positive.
3. Endocrine examination: There is hypogonadal performance.
X-ray bone fragments, chest X-ray examination, echocardiography, can be found in a variety of skeletal malformations and cardiovascular malformations; intelligence test has a low level of intelligence.
Diagnosis
Diagnosis and diagnosis of congenital pygmy dementia syndrome in children
There are no abnormal findings in typical clinical manifestations and chromosomal examinations, and some of the parents have some of the above-mentioned abnormal signs and manifestations, which are helpful for diagnosis. X-ray examination and endocrine examination are also helpful for diagnosis.
This condition should be differentiated from Turner syndrome.
