Brief introduction of spina bifida occulta

Directory 1 Pinyin 2 English Reference 3 Disease Alias 4 Disease Coding 5 Disease Classification 6 Disease Overview 7 Disease Description 8 Symptoms and Signs 9 Disease Etiology 10 Pathophysiology1Diagnostic Examination 65438+02 Differential Diagnosis 13 Treatment Scheme 14 Complications/KLOC-0.

2 English references cryptomerorachischisis

3 diseases alias esotropia, esotropia and strabismus.

4 disease code ICD:Q05.9

5 classification of diseases neurosurgery

6 disease overview spina bifida occulta is a congenital disease, and enuresis is the most common clinical manifestation. Its occurrence is mainly related to the compression of sacrococcygeal nerve, which affects the relaxation and contraction function of bladder and leads to enuresis. Some children with spina bifida died in the fetus, some survived, but died of secondary infection shortly after birth. Although some serious children spend a lot of money on surgery, they still have serious sequelae after surgery, such as lower limb paralysis and incontinence. Life can not take care of themselves, life-long disability. The disease is mostly female.

7 disease description spina bifida occulta is a congenital disease, and enuresis is the most common clinical manifestation. Its occurrence is mainly related to the compression of sacrococcygeal nerve, which affects the relaxation and contraction function of bladder and leads to enuresis.

Symptoms and Signs The symptoms of spina bifida occulta are mainly caused by the damage of spinal cord and spinal nerve in the affected segment, which is related to whether it is compressed or not and the degree of nerve damage. The local skin may have increased hair, the skin is sunken inward, and some are irregular capillary hemangioma or pigmentation. The onset is early and late, which may have appeared in infancy, and some symptoms only appear in adults, which is consistent with a series of secondary pathological changes caused by spina bifida and the gradual aggravation of tethered spinal cord and ischemic changes. According to its clinical symptoms, it can be divided into mild, moderate and severe, but a considerable number of spina bifida patients are asymptomatic for life.

1. Symptoms at onset are mild, including weakness of lower limbs, slight muscle atrophy, numbness, enuresis, and sometimes low back pain or leg pain. Most of them involve one lower limb, but there are also people with muscle weakness in both lower limbs. The examination showed peripheral nerve damage, that is, hypotonia of limbs, mild flaccid myasthenia, and hypoesthesia of lower limbs and society.

2. The above-mentioned motor and sensory disorders are obvious, such as clubfoot deformity, low back pain, sciatica or urinary incontinence.

3. Severe lower limbs show obvious muscle weakness and even paralysis; The feeling is also obviously weakened or disappeared, often accompanied by neurotrophic changes, chills at the distal end of the lower limbs, cyanosis and nutritional ulcers. Some patients often have nutritional ulcer in sacrococcygeal region, and the skin sensory disturbance in sacral nerve distribution area is obvious. Long-term disuse atrophy of lower limbs, disappearance or contracture of Achilles tendon reflex. Foot deformity can occur toe-up foot, arch foot, varus foot or valgus foot. Some patients showed complete paraplegia and urinary incontinence, and some patients showed incontinence. A few patients are accompanied by disc herniation or lumbar spondylolisthesis, and upper limb symptoms caused by tethered spinal cord can still be seen.

Etiology of the disease Since the 1960s, countries all over the world have been studying the etiology of neural tube defects, mainly spina bifida and anencephaly. In 1970s, scholars all over the world realized that neural tube defects were the result of genetic factors and environmental factors through a series of animal experiments, clinical observations and comprehensive epidemiological studies, among which environmental factors included radiation, poisons, hormonal drugs and hypoxic acidosis in early pregnancy. According to the research results in 1980s, vitamin deficiency in early pregnancy of women may be the main cause of neural tube defects. They observed that the incidence of neural tube defects in poor and malnourished women after pregnancy was much higher than that in rich and well-nourished women. The latest research results in 1990s show that folic acid deficiency in early pregnancy is the main cause of neural tube malformation. Genetic factors are also the cause of neural tube malformation. According to statistics, 8% ~ 20% parents of sick children suffer from spina bifida occulta. Someone once cultivated fertilized egg tadpole liquid by acidification, and the animal model of frog spina bifida was obtained as a result. However, the mechanism of its occurrence is still unclear. Families or couples with a family history of neural tube defects, families or couples with unexplained abortion, premature delivery, stillbirth and stillbirth, couples with a history of exposure to teratogenic or radioactive substances, couples married by close relatives, and those who have been identified or may be carriers of genetic pathogenic genes. Future generations are at greater risk of neural tube defects.

10 pathophysiological neural tube atresia takes about 10 days from embryo day 17 to day 19. In 42 pairs of segments, from the 4th to 7th segment, the lamina and sarcomere differentiated from mesoderm leaves gradually healed, and the anterior nerve began to heal around the 24th day (23-26 days). During this period, the mesoderm tissue (body segment) between neural tube and skin ectoderm leaves forms the spine, and the total pedicle healing is completed in about 8 weeks of embryo. Then the formation of neural embryo is over, and the anterior neural tube covering the ectodermal leaves of the skin extends further to the end. During this period, neuroectodermal leaves and mesodermal leaves occur, and the undifferentiated cell group at the end of the anterior neural tube vacuoles. Then these vacuoles gradually fuse to form a tubular structure (formation of the posterior neural tube). These two neural tubes finally combine to form the spinal cord primordium, a process called tube-making. From 40 to 48 days after embryo, the primordia of spinal cord filled with spinal canal degenerated at the end of spinal cord, forming the terminal filament of spinal cord. The degeneration of the spinal cord continues after birth. Results: The position of the conus medullaris gradually moved up, so that the conus medullaris was located on the 2 ~ 3 plane of sacrum at about 56 ~ 60 days of embryo, at waist 4 at 20 weeks of embryo, at waist 2 ~ 3 at birth and at waist 1 ~ 2 level in adulthood.

The human central nervous system, that is, the brain and spinal cord, began to develop at 1 month of the embryo; In the second week of embryo, neural plate is formed on the dorsal side. The nerve plate is convex on both sides and concave in the middle, and the convex parts on both sides are gradually connected and closed at the top, forming neural tubes in the third to fourth week of embryo. If the closure of neural tube is blocked at this stage, it will lead to the defect of bone or skin covering the central nervous system. On the 24th day of embryo, the anterior end of the canal is closed, and the brain is formed after repeated differentiation and division. The closure of the neural foramen at the end of the neural tube occurred on the 27th day of embryo and differentiated into the lumbosacral part of the spine. In the process of neural tube and its covering closing, this abnormality is called neural tube insufficiency. Neural tube dysfunction mostly occurs at both ends of the neural tube, but it may also occur anywhere between the two ends of the neural tube. If it happens at the front end, the skull will crack and the brain tissue will be destroyed, forming anencephaly. If it happens at the end, the spine will split, the spinal cord can be completely exposed, or it may bulge into a cyst, which is called spina bifida and meningocele. There are many pathological forms of spina bifida occulta. Simple recessive spina bifida is not complicated with other spinal cord or neuropathy, and the contents of the spinal canal do not bulge outward. In the appearance of the back, most of them are normal skin, and sometimes there are hair hyperplasia, pigmentation spots, flaky capillary hemangioma, skin pits, skin fistula and so on. These complex pathological changes often lead to the restraint and oppression of the spinal cord.

1 1 Diagnosis: According to the local skin clinical manifestations such as hair, purple spots, pits and pigmentation, combined with the symptoms of nerve damage, the diagnosis is not difficult. Especially for those with long-term enuresis or obvious urinary incontinence, spina bifida should be considered. X-ray plain film, CT and MRI scanning of spine are helpful for the diagnosis of diseases.

Laboratory examination: no special abnormal performance.

Other auxiliary inspections:

1. Vertebral X-ray plain film takes anteroposterior and lateral images of lumbosacral vertebrae, showing widening of pedicle, defect of lamina, absence of spinous process, sometimes multiple spina bifida, or vertebral deformity and scoliosis.

2.CT and MRI scanning, especially MRI, are more clear in the diagnosis of spina bifida complicated with tethered spinal cord. Most of them can show that the end of the spinal cord moves down to the lumbosacral junction or into the sacral canal, and there are signs such as adhesion in some areas. Now myelography has been replaced by magnetic resonance imaging.

12 The differential diagnosis of spina bifida occulta should be differentiated from lumbar disc herniation, lumbar muscle strain, myalgia and spinal cord tumor. Adult patients need to be differentiated from spinal stenosis. CT and MRI scans can make a definite diagnosis.

13 treatment scheme is suitable for surgical treatment of patients with tethered cord syndrome caused by spina bifida, and advocates early treatment. Only by taking out the tethered spinal cord by surgery can we get the chance of cure and improvement. In the past, many people regarded spina bifida complicated with urinary incontinence or urinary incontinence and lower limb paralysis as surgical contraindications, that is, they thought this serious case was incurable. However, in the past 20 years, I have accumulated a lot of clinical experience in treating cases, advocating a positive attitude towards surgery, even those who are urinary incontinence or paraplegic should strive for surgery. Therefore, for some severe cases, it is not appropriate to give up treatment easily.

1. Children were given basic anesthesia plus local anesthesia, and some children were given general anesthesia with tracheal intubation; Adults use intensive anesthesia plus local anesthesia or epidural anesthesia. All patients were operated in prone position. No matter whether the lesion is in the cervical, thoracic or lumbosacral segments, laminectomy above and below the diseased segments of spina bifida is expanded by straight incision above the spine. Take lumbosacral spina bifida occulta with tethered spinal cord as an example. A straight supraspinous incision was made from waist 4 to the middle of sacrum, and the paraspinal muscles were separated according to the usual laminotomy method to expose the broken lamina. Then according to the specific pathological conditions for treatment.

2. The operation steps can be cut from the midline of the normal part first, and then enter the deformed part. Surgery is generally carried out according to the following steps, namely:

(1) Extended laminectomy, and 1 ~ 2 laminae were removed upward until the terminal filament was exposed. Remove all abnormal bones, cartilage and soft tissues that cause traction and compression of dural sac, spinal cord and cauda equina nerve. Excise the thickened ligamentum flavum and cut off the outer terminal filament, but identify the sacral nerves on both sides of the terminal filament and do not damage these nerves. If the tethered spinal cord is caused by compression from epidural space, dural sac and spinal cord, the operation can be terminated without opening the dural exploration.

(2) If scar tissue, lipoma or meningocele in the spinal canal are connected with meningocele, it is necessary to continue to cut the dural sac for deep exploration to remove scar, adhesion and cyst, so that the spinal cord and nerve roots can be released. If there are lipomas around the spinal cord and nerve, especially when it is difficult to separate the fat from the nerve tissue, and it is difficult to separate the normal spinal cord boundary even under the microscope, only subtotal resection can be performed to avoid damaging the blood circulation of the spinal cord or directly damaging the spinal cord and nerve. If congenital dermoid cyst or tumor is found, it should be removed as much as possible.

(3) suture the dura mater and lamina defect area, without bone grafting and laminectomy. Can be covered with a layer of water-absorbing gelatin sponge (gelatin sponge). After careful hemostasis, the wound can be sutured layer by layer. The drainage tube can be placed outside the dura mater and pulled out after 24 ~ 48 hours. Usually, after surgical treatment, about half of moderate and severe patients can achieve significant results. Take prone or lateral position for one week after operation. If there is obvious urinary incontinence, urethral catheterization should be carried out to keep the surgical site clean and hygienic. For young children, it is necessary to prevent the pollution of urine and feces and use antibiotics to prevent infection. After the stitches are removed from the wound, rehabilitation treatment items can be added, such as physical therapy, acupuncture, limb function exercise, etc. Neurotrophic drugs can be used to promote the early recovery of neurological function.

14 occult spina bifida with complex complications often has spinal cord or nerve developmental abnormalities at the same time, such as local scar, adhesion, thickening of terminal filament, fixing the spinal cord on the vertebra to limit the upward movement of the developing spinal cord, or chondroma, lipoma, epidermoid cyst, dermoid cyst, teratoma, arachnoid cyst, syringomyelia at the end of the spinal cord, formation of nerve root diverticulum, gliosis in the spinal cord or central canal dilatation. Sometimes it is combined with hemivertebra, scoliosis, intervertebral foramen and rib dysplasia.

15 prognosis and prevention of prognosis: the factors that untie the spinal cord can be cured and improved by surgery. Some patients with urinary incontinence, incontinence and lower limb paralysis can recover or get better after operation. The extensive application of modern microsurgery technology has improved the curative effect of surgery.

Prevention: Because spina bifida occulta is the result of the combined action of genetic factors and environmental factors, attention should be paid to preventing the adverse effects of environmental factors such as radiation, poisons, hormone drugs and hypoxic acidosis in the first trimester. Vitamin supplementation for women in early pregnancy is helpful to prevent spina bifida occulta.

16 epidemiology spina bifida is a birth defect with neural tube hypoplasia. According to the national birth monitoring data from 1986 to 1987, the total birth defect rate is 103.07/ 10,000, and the neural tube malformation rate is the highest, accounting for 0.274%. According to the annual birth population of 23 million in China, about 320,000 ~ 350,000 babies suffer from birth defects, and the number of neural tube defects is as high as 80,000 ~ 6,543,800+. Some children with spina bifida died in the fetus, some survived, but died of secondary infection shortly after birth. Although some serious children spend a lot of money on surgery, they still have serious sequelae after surgery, such as lower limb paralysis and incontinence. Life can not take care of themselves, life-long disability. The disease is mostly female.

17 related sources: internal medicine 5th edition, surgery 5th edition, pediatrics 6th edition, internal medicine 6th edition.

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