Pediatric Cervical Fusion Syndrome
Introduction
Introduction to Cervical Fusion Syndrome in Children Cervical fusion syndrome (Klilapel-Feilsyndrome) is a congenital fusion of more than two cervical vertebrae, also known as Klippel-Feil syndrome, short neck syndrome, cervical and thoracic vertebral congenital osseointegration syndrome, bone-like torticollis syndrome, Congenital neck syndrome. The clinical features are characterized by short-neck, posterior hairline, and limited neck activity. basic knowledge The proportion of sickness: 0.00001% Susceptible people: children Mode of infection: non-infectious Complications: uremia
Cause
Causes of cervical fusion syndrome in children
Causes:
The malformation is 3-8 weeks of embryonic spine segmentation. In recent years, it has been found that cervical deformity is often associated with Homeobox gene abnormalities. Sometimes several cases are found in the same family, and women are slightly more common.
Pathogenesis:
The symptoms are autosomal dominant inheritance, low penetrance, and various manifestations. Some types are autosomal recessive inheritance. Some people think that this symptom is caused by disorder and inhibition of germ layer differentiation 3 to 8 weeks after embryogenesis.
Prevention
Pediatric cervical fusion syndrome prevention
Refer to the prevention method of hereditary diseases.
1, to avoid the marriage of close relatives: China has been pro-intimate since ancient times, but this will only increase the incidence of disease. Children born to close relatives are much less intelligent than non-close relatives, and the incidence is high.
2, to avoid advanced childbearing: the reproductive age is best not to exceed 35 years old, because the maternal cell aging, susceptible to external virus infection, individuals formed after fertilization are prone to chromosomal disease.
3, genetic counseling: older women, family history of genetic disease, husband and wife are carriers of chromosomal aberrations, history of birth defects, history of multiple abortions, couples with a history of exposure to radioactive elements, should seek a doctor before deciding to become pregnant advisory.
4. Stop the pregnancy. If you are pregnant and have a serious illness after the examination, stop the pregnancy as soon as possible.
Complication
Complications of cervical fusion syndrome in children Complications uremia
1. Pulmonary dysfunction: due to spinal abnormalities often accompanied by thoracic abnormalities, lung capacity and maximum ventilation decreased after a long time, leading to mixed ventilatory disorders, impairing lung function.
2. Nervous system complications: Neurological symptoms are caused by compression of the spinal cord or nerve roots, which can be complicated by facial nerve paralysis, rectus abdominis paralysis, and drooping eyelids.
3. Cardiovascular damage: The penetrance rate of congenital heart disease is about 25%, and ventricular septal defect is common. In addition, there may be patent ductus arteriosus, tetralogy of Fallot, transposition of great arteries, drainage of pulmonary veins, etc. Can have speech and pronunciation barriers.
4. Urinary damage: common urinary malformations include renal hypoplasia, horseshoe kidney, hydronephrosis, renal ectopic, etc., children can die of kidney disease and uremia.
Symptom
Symptoms of Cervical Fusion Syndrome in Children Common Symptoms Short-necked hunchback horseshoe varus cervical vertebrae have been shown... Neck muscle swelling and hardening of the cervical vertebrae joint pain After scoliosis, low-vascular malformation, head and neck activity limitation
The main characteristic of this disease is that the child has cervical vertebrae skew after birth, or the head is slightly skewed to one side. Infancy is often ignored because of the inconspicuous performance. The cervical vertebrae 2 to 3 knots are mostly accidentally discovered, due to two or Several cervical vertebrae fuse into a large vertebrae and show a short neck. The neck and chest are close. The neck flexion and extension are mainly the movement between the occipital and atlas. Because the lateral movement is limited, the sides of the neck can be There are skin sputum, from the mastoid down to the acromion, the skin sputum widens the appearance of the neck, the skin sputum includes the skin, the subcutaneous tissue, and sometimes there are muscles.
Head and neck activity is obviously limited, posterior hairline is low, sometimes accompanied by flattened brain, some sick children appear as painless torticollis, and some may be sternocleidomastoid contracture, and some are caused by bony deformity, torticollis It is not uncommon to have facial asymmetry and congenital high shoulder scapula. About 60% of patients with short neck deformity have congenital scoliosis, hunchback, and more than half of patients have scoliosis.
In addition, other musculoskeletal malformations such as cervical ribs, rib fusion, rib joint abnormalities, and finger dysplasia, axillary fingers, cleft palate major dysplasia, upper limb atrophy, clubfoot and pivot Vertebral hypoplasia, etc., 1/3 of patients have renal abnormalities such as unilateral renal hypoplasia, may also be associated with congenital heart disease, spina bifida, skull deformation, pterygopalatine deformity, hearing impairment, esotropia, horizontal nystagmus, nervous system Diseases, etc., these "hidden" abnormalities even worse than the neck deformity, short-necked cardiovascular abnormalities accounted for about 4.2%, of which ventricular septal defect is the most common, and some children have synergistic automatic movement (synkinesia Obstacles, such as sick children can not independently move their hands.
Examine
Examination of cervical fusion syndrome in children
Generally, blood, urine, and routine examinations are normal, and children with renal impairment may have abnormal urine tests.
1. X-ray films of short-neck syndrome: X-ray films are important for the diagnosis of the disease and for understanding the extent of the deformity. Because the overlap of the occipital and mandible can make the cervical vertebrae unclear, some need to perform tomography. Laminagraphy or CT examination, the vertebral body becomes flat and wide, the disc is narrowed or even disappeared, and the cervical spine is very common. The lateral cervical flexion and extension X-ray can show the instability and fusion of the cervical vertebra. range.
Hlingworth divides the syndrome into the following three types:
Type I: A wide range of deformities in which a number of spine fuse into a single large block, mainly invading the cervical vertebrae and the upper thoracic vertebrae.
Type II: fused for 1 to 2 cervical intervertebral space segments.
Type III; type I or type II with a lower thoracolumbar fusion.
2. Echocardiography: Cardiovascular malformations can be found.
3. Intravenous pyelography: urinary angiography if necessary, intravenous pyelography is very important for patients with short neck deformity.
Diagnosis
Diagnosis and diagnosis of cervical fusion syndrome in children
diagnosis
This symptom is more common in girls, combined with clinical "triple syndrome", the diagnosis is based on X-ray film, showing cervical fusion and / or with thoracic vertebrae, lumbar fusion.
Differential diagnosis
The condition must be differentiated from Turner syndrome, Noonan syndrome, Morquio syndrome, and spinal rib dysplasia.
