Congenital Facial Diparesis Syndrome in Children
Introduction
Brief introduction of congenital facial muscle syndrome in children Congenital facial muscle syndrome, Möbius syndrome, also known as congenital eye - paralysis, infant eye muscle atrophy, congenital facial paralysis, Graefe II syndrome, vonGraefe syndrome, congenital nerve and facial nerve paralysis (congenitalabducensandfacialnervesparalysis), The condition is characterized by cranial nerve combined with paralysis, congenital malformation and mental retardation. basic knowledge The proportion of illness: 0.002% Susceptible people: children Mode of infection: non-infectious Complications: exposed keratitis
Cause
The cause of congenital facial muscle spasm syndrome in children
(1) Causes of the disease
There are many kinds of understandings about the etiology of this disease, and there is no conclusion yet.
(two) pathogenesis
1. The pathogenesis generally believes that the disease has the following doctrines:
(1) Harmful factors: may be the fetus in the uterus, especially within 2 months of pregnancy, the embryo is affected by external harmful factors, so that the nerve, facial nerve, glossopharyngeal nerve, sublingual nerve nucleus is poorly developed, and the medial longitudinal bundle is also There may be defects.
(2) Mesodermal theory: Others believe that the ectodermal theory cannot explain bone defects, hemangioma, breast defects, etc., so it is proposed that the mesodermal theory is that the muscle is a primary lesion, congenital malformation occurs in Before the embryonic innervation is completed.
2. Pathological changes and classification Huebner firstly confirmed the abnormal development of the central nervous system of this disease line from neuropathological examination, and other literature reports that the cranial nerve nucleus has dysplasia.
Towfighi et al (1979) divided the symptoms into 4 groups: 1 cerebral nucleus dysplasia or atrophy. 2 primary peripheral nerve damage. 3 necrosis of the brain stem nucleus. 4 myopathy.
Prevention
Pediatric congenital facial muscle syndrome prevention
With reference to congenital disease prevention methods, preventive measures and other birth defects, prevention should be carried out from pre-pregnancy to prenatal:
1. Premarital medical examination plays an active role in preventing birth defects: The size of the effect depends on the examination items and contents, mainly 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.
2. 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
Complications of congenital facial muscle syndrome in children Complications exposed keratitis
Exposure keratitis can occur, language development is delayed, and there are multiple malformations.
Symptom
Pediatric congenital facial muscle syndrome syndrome common symptoms language developmental delay valgus nasolabial fold shallow infant feeding difficulties tongue muscle paralysis tooth occlusion weakness keratitis deafness small jaws
1. Double-sided : can be complete or incomplete, manifested as facial expressionless movement, nasolabial shallow groove, round mouth, lip tone is unclear, sucking in early childhood, feeding difficulties, childhood can have mouth drooling, food Remains in the cheeks and other phenomena, as well as the orbicularis muscle weakness, genital valgus, tear accumulation in the lower iliac crest, incomplete closure of the eyelids, exposed keratitis.
2. Restriction of external rotation of both eyes: The external rotation of both eyes does not exceed the midline, and the horizontal saccade movement cannot be performed. When looking at the left or right target, the head position must be turned, but the vertical movement and the Bell phenomenon are normal.
3. Eye position: Most cases have an internal oblique position. In a few cases, the first eye position can be normal, the convergence can be normal or defective, and the pupil contraction is normal when collecting.
4. Other cranial nerve disorders: Sublingual nerve damage is characterized by tongue paralysis, tongue atrophy becomes smaller, typical is sharpened, there is a sulcus, and the sublingual nerve movement root is affected by occlusion weakness, soft palate movement defect, abnormal pronunciation and Language development is slow.
5. Other dysplasia: visible small jaw deformity, multi-finger (toe), short finger, deformed foot, hemangioma, chest muscle, atrophy of the tibia muscle, lack of breast, deafness and so on.
6. Mental retardation.
7. EEG can be abnormal.
Examine
Examination of congenital facial muscle syndrome in children
Generally no specific findings.
X-ray, EEG, brain CT, etc. should be performed, and EEG examination may be abnormal.
Diagnosis
Diagnosis and diagnosis of congenital facial muscle syndrome in children
This symptom is mainly diagnosed by the above clinical manifestations, especially the characteristics of VI, VIII nerve paralysis that existed in the early years without progress.
Distinguish from chromosomal aberrations.
