Pediatric dwarfism-retinal atrophy-deafness syndrome
Introduction
Introduction to Pediatric Gnome-Retinal Atrophy-Deafness Syndrome Dwarfism-retinalatrophy-deafnesssyndrome (also known as Cockayne syndrome, Neill-Ding-Wall syndrome, small head, striatum cerebellar calcification, and white matter dystrophy syndrome, long-legged dwarf syndrome) Chromosome 20-trisomy syndrome, etc., this disease is more than the onset of the young, characterized by long limb dwarfism, ataxia, premature face, skin sensitivity to light, neurological deafness and central nervous system disorders. basic knowledge The proportion of illness: 0.0001--0.0005% Susceptible people: children Mode of infection: non-infectious Complications: convulsions in children
Cause
Pediatric Gnome - Retinal Atrophy - Causes of Deafness Syndrome
(1) Causes of the disease
The etiology of this disease is unknown, mostly autosomal recessive hereditary diseases.
(two) pathogenesis
It may be a kind of lipid metabolic disease involving a variety of tissues. The pathological feature is that the white matter has a flaky sulphate demyelination, causing severe brain atrophy. The basal and cerebellum have calcification and iron condensation. Widely hyperplasia, globus pallidus pigmentation, optic atrophy and other pathological changes, premature aging of this disease is associated with a significant reduction in thymus hormone content, children may be susceptible to infection, decreased IgA content or decreased cellular immune function, the disease The mechanism of thymocyte reduction is unclear, and it may be that thymocytes stop production or are associated with inhibitors in the circulation.
Prevention
Pediatric Gnome - Retinal Atrophy - Prevention of Deafness Syndrome
The cause is still unclear. With reference to the prevention of congenital diseases, preventive measures should be carried out from pre-pregnancy to prenatal:
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) and reproductive system examination (such as screening for cervical inflammation). General 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.
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.
Complication
Pediatric Gnome - Retinal Atrophy - Complications of Deafness Syndrome Complications
Often skin pigmentation, mostly after 10 years of age blindness, paralysis, convulsions, progressive mental retardation and infection.
Symptom
Pediatric Gnome-Retinal Atrophy-Deafness Syndrome Symptoms Common Symptoms Skin pale eyeball tremor convulsion corneal opacity gait instability neurological deafness abnormal short spine scoliosis weight loss ataxia
Normal at birth, early onset in infants, symptoms appear around 4 years old, start with subcutaneous fat reduction, weight loss, short, pygmy, scoliosis, slender and distorted limbs, face like premature aging, facial skin Shrinking, but not hair loss, small head circumference, thin face, deep eye socket, nose tip, pale skin, cold, often solar dermatitis and pigmentation, subcutaneous fat, no sweating, eye symptoms have corneal opacity Irregular pupils, small pupils, hyperopia, retinitis pigmentosa, nystagmus, optic atrophy, progressive and significant blindness after 10 years of age, dyskinesia manifested as ataxia, gait instability, dance, hand and foot, tremor Central or peripheral sputum, neurological deafness increases with age, can also have convulsions at first, frequent episodes, and progressive progressive mental decline.
Examine
Pediatric pygmy-retina atrophy-deafness syndrome examination
Blood, urine, routine examination is generally normal, IgA content is reduced or cellular immune function is weakened.
1. X-ray examination often has thickening of the skull, calcification, frequent protrusion of the spine, flattening of the vertebral body, 5th finger, end of the phalanx and nail defect, other metacarpophalangeal and nail development, joint contracture, ossification center Appears normal.
2. EEG shows that the radio wave is low and the nerve conduction velocity is slowed down.
3. Ultraviolet test After irradiating the skin of the exposed part of the child with ultraviolet light, the formation of skin fibroblast colonies was observed, and the result of the test of the patient's disease was that the formation of fibroblast colonies was significantly reduced.
4. Brain CT examination has brain atrophy, calcification in the bottom node and cerebellum.
Diagnosis
Diagnosis and differentiation of pediatric dwarf-retinal atrophy-deafness syndrome
According to the clinical manifestations when considering this symptom, this symptom is a characteristic manifestation of light sensitivity, so skin light sensitivity test can be done to help diagnosis.
Should be differentiated from premature aging, Bloom syndrome, Rothmund-Thomson syndrome and Addison disease, according to the above clinical manifestations can be diagnosed, UV skin sensitivity test can help diagnose, but need to be identified with the following diseases.
1. Dyeing dry skin disease The fibroblasts of the skin lack the repair function of DNA damaged by ultraviolet radiation, the lesions are easily malignant, often die due to metastasis of squamous cell carcinoma or melanoma, and the intrinsic pyrimidine dimer The exclusion is normal, the repair function of DNA is normal, and the skin lesions have no tendency to become malignant.
2. The appearance of "small old people" in premature aging is more significant than the original.
