Pediatric Tuberous Sclerosis Syndrome
Introduction
Introduction to children with tuberous sclerosis syndrome Tuberous sclerosis syndrome (tuberoussclerosis), also known as Bourneville syndrome, Pringle syndrome, Bourneville-Pringle mother spot disease, facial symmetry vasodilator measles (naevusfibromatousangiectodessymmetricusfaciei), etc., is nerve skin A type of syndrome. The clinical features are characterized by childhood symmetrical facial papules, epileptic seizures, intellectual disorders, nervous system and retinal abnormalities. basic knowledge The proportion of illness: 0.002% Susceptible people: children Mode of infection: non-infectious Complications: dementia, renal cyst, cardiac rhabdomyosarcoma
Cause
Causes of pediatric tuberous sclerosis syndrome
Causes:
The etiology of this disease is not very clear, it is generally considered to be autosomal dominant genetic disease, and some people think that it is related to embryonic dysplasia.
Pathogenesis
The typical lesion of the brain is cortical hardened plaque, which is yellowish white or white nodules, hard as cartilage. The microscopic nodules are composed of proliferating colloids, astrocytes and deformed giant cells, often with calcium deposition. When the nodules in the brain grow up, they can block the interventricular pores, causing hydrocephalus. Sebaceous adenomas are actually composed of excessively proliferating connective tissue.
Prevention
Prevention of pediatric tuberous sclerosis syndrome
Preventive measures include avoidance of close relatives, genetic testing of carriers, prenatal diagnosis, and selective abortion to prevent the birth of a child.
Conduct genetic counseling:
For families with a family history: genetic counseling can help adults with selective fertility.
Pre-marital medical examination plays an active 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), Ordinary medical examinations (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. Systemic birth defect screening is required during antenatal care during pregnancy, including regular ultrasound, serological screening, and, if necessary, chromosomal examination.
Because most cases are caused by genetic mutations that are completely unpredictable by unaffected parents. Therefore, a systematic examination is required during the antenatal care during pregnancy. X-ray examination (after 5 months of pregnancy) is beneficial for the diagnosis of fetal skeletal deformities; early diagnosis and early treatment is the key to the prevention and treatment of this disease.
Complication
Complications of pediatric tuberous sclerosis syndrome Complications Dementia Kidney Cyst Heart Rhabdomyosarcoma
Comprehension and memory loss, progressive progressive, severe dementia, intracranial tuberculosis caused by obstructive hydrocephalus, tumor or intracranial tumor, vascular malformation caused by intracranial hypertension, renal cyst and urinary system Malformation, mixed kidney tumors - hamartoma; cardiac rhabdomyomas, benign tumors of the gastrointestinal system.
Symptom
Symptoms of pediatric tuberous sclerosis syndrome Common symptoms Intracranial high pressure coffee spot pimples infantile spasm epilepsy and epileptic seizures intelligent disorder blind spot dementia convulsion hydrocephalus
The disease is a disease with multiple systems, and the clinical manifestations are as follows:
1. Skin symptoms: facial sebaceous adenoma is common in early childhood, a few born at the time of birth, symmetrical butterfly shape distributed on both sides of the nose and denomination, cheeks, eyelids, etc., the shape looks like small ball, from needle size to peas Size, orange-red papules or small nodules are hard to touch, rich in blood vessels and lipids, fading, partial fibrinous fibroids, granular spots, shark skin spots or white spots, milk coffee spots, distributed in the arms, Lower limbs and trunk.
2. Nervous system symptoms: more than 90% of children have epileptic seizures or infantile spasms, often the first symptoms, often occur in infancy to 3 years old, 60% to 70% of cases have mental retardation, understanding and memory Decreased, progressive progressive, severe cases become dementia, some cases may cause obstructive hydrocephalus due to intraventricular nodules, or intracranial tumors, vascular malformations caused by intracranial hypertension and corresponding signs.
3. Other abnormalities: gray or yellow-white spots in the retina, blind spots in the visual field, retinal lens tumors, mulberry-like masses in the fundus, refraction; renal cysts and urinary malformations, mixed kidney tumors - hamartoma; cardiac rhabdomyomas, Benign tumors of the gastrointestinal system, etc.
Examine
Examination of children with tuberous sclerosis syndrome
Blood, urine, routine examination is normal, cerebrospinal fluid examination is normal.
Do B-ultrasound, angiography, X-ray, CT, etc., can detect benign tumors in the eyes, kidneys, heart, liver and spleen, lungs and brain. Scrubs can be seen in scattered, irregular, such as cotton-like calcifications. Gas cerebral angiography can show mild dilatation or bulging nodules in the ventricle. CT examination can detect density increase early, EEG can detect abnormal brain waves, diffuse irregular spine slow waves, or sometimes focal Change, the older the age, the more obvious the change.
Diagnosis
Diagnosis and diagnosis of juvenile tuberous sclerosis syndrome
diagnosis
Because sebaceous adenomas are not common in the early stage, it is suspected that the baby has a seizure with skin white spots. If the child has convulsions, mental retardation, sebaceous adenoma or typical symptoms with other organ changes, the diagnosis is easy. At this time, skull film, gas cerebral angiography, CT examination, EEG examination, etc. should be performed.
According to the Pampiglioneg diagnostic criteria, those who meet the following three or more criteria can be diagnosed.
1. Epilepsy (all types of epilepsy, including infantile spasms).
2. Progressive smart decline.
3. Facial symmetry sebaceous adenoma.
4. Skin hypopigmentation or no pigmentation zone changes.
5. There are retinal tumors, cardiac rhabdomyomas, shark skin spots, periungual fibroids and so on.
6. X-ray signs around the cerebral ventricle, small nodules in the wall and brain atrophy.
Differential diagnosis
Different from the cause of convulsions, hydrocephalus, clinical manifestations and laboratory tests such as cerebrospinal fluid examination, help differential diagnosis; skull film, gas cerebral angiography changes can help diagnose.
