Spina bifida and related malformations

　　The exact etiology of spina bifida and related malformations is not yet clear. The widely accepted view at present is that the incomplete closure of the embryonic neural tube or the re-opening of the neural tube for some reason after closure may be the cause. The pathogenesis is that when the neural tube healing process is disturbed by internal and external adverse factors, craniospina bifida and related malformations may occur. Spina bifida can be widespread non-fusion of the neural tube, known as complete spina bifida or complete spina bifida, or partial spina bifida.

　　Spina bifida and related malformations are prone to rupture and infection of the cystic sac, leading to meningitis.

　　Complete spina bifida is mostly stillbirth, with little clinical significance. Partial spina bifida mainly manifests as follows:

　　1. Hidden spina bifida
　　The most common, accounting for about 1 in 1000 surviving newborns, mostly in the lumbosacral region, with one or more vertebral plates incompletely closed, and the contents of the vertebral canal do not protrude. The child may show no external signs and is often discovered incidentally during imaging. Occasionally, there may be hyperpigmentation of the skin in the lumbosacral region, with a umbilical-shaped depression, excessive hair growth, or subcutaneous fat pads. Sometimes the aforementioned structures are attached to the dura mater, nerve roots, and even the spinal cord through a fibrous cord through the vertebral plate fissure, fixing the spinal cord in the vertebral canal and limiting the upward migration of the spinal cord during development. It can also be accompanied by gliosis within the spinal cord or even expansion of the central canal, leading to a tethered cord syndrome. Spina bifida itself rarely has symptoms, and some low back pain and enuresis may be related to this.

　　2. Myelomeningoceles
　　More common in the lumbar and lumbosacral regions; it can also occur in other locations. The dura mater protrudes outward through the vertebral plate defect to reach the subcutaneous tissue, forming a midline cystic mass with the skin, which is filled with cerebrospinal fluid. Or it may only cover a thin layer of epidermis, the position of the spinal cord and nerve roots may be normal or adherent to the vertebral canal, and nerve roots may enter the cystic sac and adhere to it.

　　3. Myelomeningoceles
　　Less common than myelomeningoceles. The defect in spina bifida is large, with cerebrospinal fluid entering the cystic sac in addition to the spinal cord. The base of the cystic sac is relatively wide, and the skin covering the surface is thin and dark, not very translucent. Sometimes the skin is transparent, and through the skin, blood vessels, nerve roots, and the spinal cord can be seen.

　　4. Cystic myelomeningoceles
　　Cystic myelomeningoceles are accompanied by local enlargement and malformation of the central canal of the spinal cord (spinal cord hydrocephalus). The latter resembles an intramedullary cyst and can protrude into the cystic sac together.

　　5. Extradural Ectopia
　　Extradural ectopia is the most serious type of partial spina bifida. The central canal of the spinal cord is split all the way to the body surface, forming an exposed granulation surface, often with cerebrospinal fluid leakage.

　　6. Anterior Spina Bifida
　　Anterior spina bifida is a rare type of spina bifida. The meninges bulge forward into the body cavity.

　　To prevent spina bifida and related deformities, attention should be paid to prenatal health care for pregnant women, avoiding adverse factors during embryonic development such as infection, metabolic diseases, and poisoning. Although the situation of birth defects in China is severe at present, prenatal screening and diagnosis can effectively reduce the overall incidence rate of birth defects and disabilities. Healthy children are the foundation of family harmony, and every expectant mother, especially those with high-risk factors, must not give up the possibility of discovering congenital diseases with a chance.

　　The diagnosis of spina bifida and related deformities relies not only on clinical and physical signs but also on related auxiliary examinations, which are indispensable. Common examinations include radiological examinations: X-ray films, CT, and MRI.

　　Spina bifida can be a wide neural tube fusion, known as complete spina bifida or total spina bifida, or partial spina bifida. Since most patients with spina bifida and related deformities are newborns and breast milk is the main food, there are no special dietary requirements.

　　For those with spina bifida and related deformities without neurological symptoms, such as隐性spina bifida, surgery is not required. For other types of cysts with less severe neurological symptoms, such as meningocele, surgical treatment should be carried out as soon as possible. The principle of surgery is to separate the adhesions between the spinal cord and the nerve roots, bring the nerve tissue back into the spinal canal, remove the cystic sac, and reinforce the weak points of the spinal canal. At the same time, special attention should be paid to cutting the tight filum terminale during the operation to allow the spinal cord to relax fully. If the operation is delayed for some reason, the cyst wall should be protected carefully to prevent rupture and contamination. The epidermal sinus in the sacrum must be removed to eliminate the channel for intracranial infection.