Bladder and bowel problems occur in most people with myelomeningocele, as the nerves come from the very bottom of the spinal cord, and are always below the lesion. Shine uses browser cookies to give you the best possible experience. [2], Spina bifida is believed to be due to a combination of genetic and environmental factors. Treatment usually involves surgery to remove the bone and to free up the spinal cord (. It can affect as many as 1 out of every 800 babies. Types of Spina Bifida. You may not know, but there are a number of different types of spina bifida. In one study, 60% of children with spina bifida were diagnosed with a learning disability. In the majority of cases, though, spina bifida is an isolated malformation. Ultrasound screening for spina bifida is partly responsible for the decline in new cases, because many pregnancies are terminated out of fear that a newborn might have a poor future quality of life. [10], Toxins and conditions associated with MMC formation include: calcium-channel blockers, carbamazepine, cytochalasins, hyperthermia, and valproic acid. Open spina bifida can usually be detected during pregnancy by fetal ultrasound. The neural tube is the embryonic structure that eventually develops into the baby's brain and spinal cord and the tissues that enclose them.Normally, the neural tube forms early in pregnancy, and it closes by the 28th day after conception. Spina bifida is a birth defect that occurs when the spine and spinal cord don't form properly. [24][25] There is no known cure for nerve damage caused by spina bifida. [21][22][23], However, other studies suggest spina bifida occulta is not always harmless. [65], Broadly, there are two forms of prenatal treatment. Myelomeningocele. Spina Bifida Cystica with Meningocele. [4] Not having enough folate (vitamin B9) in the diet before and during pregnancy also plays a significant role. [71] An increased dependence on others (in particular family members) may interfere with the adolescent's self-management of health-related tasks, such as catheterization, bowel management, and taking medications. [67], Most individuals with myelomeningocele will need periodic evaluations by a variety of specialists:[68], Although many children's hospitals feature integrated multidisciplinary teams to coordinate healthcare of youth with spina bifida, the transition to adult healthcare can be difficult because the above healthcare professionals operate independently of each other, requiring separate appointments, and communicate among each other much less frequently. [72] As part of the transition process, it is beneficial to begin discussions at an early age about educational and vocational goals, independent living, and community involvement. [12] On average in developed countries it occurs in about 0.4 per 1000 births. In children, this can be a normal part of development, with some of the lowest vertebrae not closing completely until the teenage years. Treatment usually involves surgery to remove the bone and to free up the spinal cord (detethering). [8] Rates of other types of spina bifida vary significantly by country, from 0.1 to 5 per 1,000 births. Standard treatment is surgery after delivery. cystica are the two general classifications of spinabifida .Spina bifida occulta, the closed type, is the mildest form of spina bifida. The exact cause is still uncertain, but it is thought that a layer of cells (which will develop into the skin) detaches from the neural tissue too early, allowing fat cells to become attached to the spinal cord, where they grow to form a lump. Surgeons at Vanderbilt University, led by Joseph Bruner, attempted to close spina bifida in 4 human fetuses using a skin graft from the mother using a laparoscope. Spina bifida occulta is a physical deformity that occurs as a baby develops in the mother's womb. (The spinal cord may join up again, but if it doesn’t, it is referred to as diplomyelia.) The first is open fetal surgery, where the uterus is opened and the spina bifida repair performed. For most people affected, SBO will have no impact on their lives. The term ‘spina bifida occulta’ is sometimes used to refer to other skin covered lesions (such as lipomyelomeningocoele or diastematomyelia - see below) but it is more accurate to distinguish between those conditions, and uncomplicated gaps in the vertebrae. It is present from birth and is often seen as a skin covered lump on the baby’s back at birth. [27] In individuals with myelomeningocele, the unfused portion of the spinal column allows the spinal cord to protrude through an opening. It also tends to be more common in girls. Treatment for lipomyelomeningocoele, if needed, is usually by surgery to release the nerves from within the fatty lump, which will be done by a Neurosurgeon. This approach has been evaluated by independent authors of a controlled study which showed some benefit in survivors,[90] but others are more skeptical. In the longitudinal scan a lumbar myelomeningocele is seen. Up to 20% of people have an incomplete formation of a single lamina in the lumbosacral spine without any other abnormalities. Spina= Latin: “spine” Bifida= Latin:“split”Occulta = Latin: “hidden.” (Unlike in “open” spina bifida, the defect in spina bifida occulta is not visible. In contrast, the initial punctures have a diameter of 1.2 mm only. This is the mildest form of spina bifida. However, most commonly it is used as a synonym or subset of spinal dysraphism. Spina bifida cystica can then be broken down into meningocele and myelomeningocele. [citation needed], Incomplete posterior fusion is not a true spina bifida, and is very rarely of neurological significance. Spina bifida is among the phenotypes of the larger condition known as neural tube defects (NTDs). In one case, a man born with spina bifida was awarded a $2-million settlement after court found his mother's OBGYN negligent for not performing these tests. Meningocele is the least common form of spina bifida. [11] Open spina bifida can be surgically closed before or after birth. The second is via fetoscopy. With this condition, a sac of fluid comes through an opening in the baby’s back. [36] Children with spina bifida may perform well in elementary school, but begin to struggle as academic demands increase. In some individuals, this causes significant traction and stress on the spinal cord and can lead to a worsening of associated paralysis, scoliosis, back pain, and worsening bowel and/or bladder function. Spina bifida was described in the medieval literature and was recognized even earlier. These may be classified by their localisation to occipital, frontoethmoidal, or nasal. [84], Management of myelomeningocele study (MOMS) was a phase III clinical trial designed to compare two approaches to the treatment of spina bifida: surgery before birth and surgery after birth. There may be a hairy patch, dimple, or birthmark over the area of the defect. Problem-solving, abstraction, and visual planning may also be impaired. [31] Neurons within the cortex may also be displaced. This is because, unlike in most of the other neural tube defects, the dural lining is maintained. About 15% of people have spina bifida occulta. [69] Due to the potential difficulties of the transition, adolescents with spina bifida and their families are encouraged to begin to prepare for the transition around ages 14–16, although this may vary depending on the adolescent's cognitive and physical abilities and available family support. By using Shine, you agree to our Privacy Policy. [citation needed], In 2012, these results of the fetoscopic approach were presented at various national and international meetings, among them at the 1st European Symposium “Fetal Surgery for Spina bifida“ in April 2012 in Giessen, at the 15th Congress of the German Society for Prenatal Medicine and Obstetrics in May 2012 in Bonn,[95] at the World Congress of the Fetal Medicine Foundation in June 2012[96] and at the World Congress of the International Society of Obstetrics and Gynecology (ISUOG) in Copenhagen in September 2012,[97] and published in abstract form. [73], About 15% of people have spina bifida occulta. DefinitionIt is type of spina bifida cystica characterized by the herniation of spinal cord contents and meninges through an abnormal defect in the back bone [1].. [65] To the baby, there is the risk of preterm birth. [31], Cortex abnormalities may also be present. Thinner sections of the brain are also associated with increased cortical folding. [15] The term spina bifida is Latin for "split spine". Spina Bifida Occulta. The opening can … [citation needed], Many people with this type of spina bifida do not even know they have it, as the condition is asymptomatic in most cases. Degenhardt J, Schürg R, Kawecki A, Pawlik M, Enzensberger C, Stressig R, Axt-Fliedner R, Kohl T. "Maternal outcome after minimally-invasive fetoscopic surgery for spina bifida. The spinal cord and the nerves usually are normal. Spina bifida is a condition in which a baby's spine doesn't properly develop, leaving a gap. This prevents an estimated 600 to 700 incidents of spina bifida a year in the U.S. and saves $400 - $600 million in healthcare expenses. Myelomeningocele is the most serious and more common of the two forms of cystic spina bifida. Degenhardt J, Kawecki A, Enzensberger C, Stressig R, Axt-Fliedner R, Kohl T. "Reversal of hindbrain herniation within a few days after minimally-invasive fetoscopic surgery for spina bifida indicates the desired water-tight closure of the lesion. With modern medical care, the quality of life of patients has greatly improved. [3] After having one child with the condition, or if a parent has the condition, there is a 4% chance the next child will also be affected. [36], Several studies have demonstrated difficulties with executive functions in youth with spina bifida,[37][38] with greater deficits observed in youth with shunted hydrocephalus. It occurs when the bones of the spine (vertebrae) do not close completely. A common symptom of spina bifida occulta is persistent lower back pain 1.According to the Spina Bifida Association, a regular routine of stretching exercises can relieve that pain and keep your spine limber 1 2.Perform hamstring stretches, lower back and hip flexor stretches as well as heel stretches daily to prevent the discomfort. This conclusion requires a value judgment on the relative value of fetal and maternal outcomes on which opinion is still divided.[87]. The spinal cord and nerves are usually fine. Further, higher numbers of shunt revisions are associated with poorer mathematics abilities. At one year of age, 40 percent of the children in the prenatal surgery group had received a shunt, compared to 83 percent of the children in the postnatal group. Extensive evidence from mouse strains with spina bifida indicates that there is sometimes a genetic basis for the condition. Anatomy scan of the fetal head at 20 weeks of pregnancy in a fetus affected by spina bifida. [4] Alcohol misuse can trigger macrocytosis which discards folate. Neural arch formation occurs in the first month of embryonic development (often before the mother knows she is pregnant). [7] In the United States it affected about 0.7 per 1000 births,[4] and in India about 1.9 per 1000 births. "Partial carbon dioxide insufflation (PACI) during fetoscopic surgery on 60 fetuses with spina bifida. Depending on the findings, a referral to a neurosurgeon might be appropriate. Usually, spina bifida occulta causes no health problems. In this type, the involved area is represented by a flattened, plate-like mass of nervous tissue with no overlying membrane. It falls under the broader category of neural tube defects. Healthcare professionals working with adults may also be less knowledgeable about spina bifida because it is considered a childhood chronic health condition. [40] Further, children with spina bifida may have poor cognitive flexibility. Spina bifida occulta (SBO) is a type of spinal dysraphism or ‘closed’, skin-covered form of spina bifida. In this form, the sac contains meninges (tissues which cover the brain and spinal cord) and CSF, but no spinal tissue. After stopping the drinking of alcohol, a time period of months is needed to rejuvenate bone marrow and recover from the macrocytosis. (Spina Bifida Occulta and other dysraphisms), The effects and complications of spina bifida occulta are caused by nerves and spinal tissue being trapped, caught up on abnormal pieces of bone, or tangled in fatty lumps, which prevent the spine moving freely inside the spinal column (see our information on, ‘Growing pains’, pain, weakness or fatigue during walking, Cramp or pins and needles in the feet and legs, Numbness or lack of sensation on the skin to the feet, This is a condition in which the spinal cord is divided into two (lengthways), usually in the lumbar area. Shunts most commonly drain into the abdomen or chest wall. Kohl T, Kawecki A, Degenhardt J, Axt-Fliedner R. "Preoperative sonoanatomic examination of fetal spina bifida permits prediction of surgical complexity during subsequent minimally-invasive fetoscopic closure. [3] Other risk factors include certain antiseizure medications, obesity, and poorly managed diabetes. spina bifida cystica in particular have assumed greater importance in recent years. [5] Before birth, if a blood test or amniocentesis finds a high level of alpha-fetoprotein (AFP), there is a higher risk of spina bifida. [6] A shunt may be needed in those with hydrocephalus, and a tethered spinal cord may be surgically repaired. Read more on related conditions. Problems can also develop if the person gains weight – because the lump is made of fat cells, they become larger with weight gain like other fat cells in the body. [citation needed], Myelomeningocele (MMC), also known as meningomyelocele, is the type of spina bifida that often results in the most severe complications and affects the meninges and nerves. Nerves to and from the spinal cord emerging below the damaged region may not pass messages to the brain. As a result, thinning of the uterine wall or dehiscence which have been among the most worrisome and criticized complications after the open operative approach do not occur following minimally invasive fetoscopic closure of spina bifida aperta. Occulta is often called hidden spina bifida, as the spinal cord and the nerves are usually normal and there is no opening on the back. [citation needed], There is neither a single cause of spina bifida nor any known way to prevent it entirely. [34] In fact, the cerebellum also tends to be smaller in individuals with spina bifida, especially for those with higher lesion levels. Diastematomyelia can occur alone, or with lipomyelomeningocoele. [66], Treatment of spina bifida during pregnancy is not without risk. It is a rather common condition, occurring in about 10-20% of people. In open spina bifida, the appearance of the skull bones and cerebellum - part of the back of the brain - show distinct signs to lead the sonographer to look for tiny changes in the spine. There are a number of conditions that share features with, or are otherwise closely linked to spina bifida. Illustrated Textbook of Paediatrics (Second Edition). [98][99][100][101][102][103][104][105][excessive citations], Since then more data has emerged. [8] Rates of other types of spina bifida vary significantly by country from 0.1 to 5 per 1000 births. Around half of people with diastematomyelia have their spinal cord divided by an extra piece of bone or band of fibrous tissue in the spinal canal. There may be visible signs on the back such as a lump, a haemangioma or naevus (strawberry birthmark), a deep dimple or sinus (hole) above the cleft of the buttocks, or a tuft of hair (similar to head hair, rather than downy back hair). [44] Individuals with spina bifida have demonstrated stable difficulties with arithmetic accuracy and speed, mathematical problem-solving, and general use and understanding of numbers in everyday life. [44] Early intervention to address mathematics difficulties and associated executive functions is crucial. This stops the spinal cord from moving freely inside the spinal bones, and with growth the nerves become stretched and damaged; this is what is meant by ‘tethered cord’. This happens during the first month of gestation, when a neural tube is developed. [39] Unlike typically developing children, youths with spina bifida do not tend to improve in their executive functioning as they grow older. [43] In addition to brain abnormalities directly related to various academic skills, achievement is likely affected by impaired attentional control and executive functioning. [91], The observations in mothers and their fetuses that were operated over the past two and a half years by the matured minimally invasive approach showed the following results: Compared to the open fetal surgery technique, fetoscopic repair of myelomeningocele results in far less surgical trauma to the mother, as large incisions of her abdomen and uterus are not required. [19] Unlike most other types of neural tube defects, spina bifida occulta is not associated with increased AFP, a common screening tool used to detect neural tube defects in utero. Spina Bifida Occulta (SBO) usually does not cause harm, and has no visible signs. Lipomyelomeningocoele often affects the bladder and bowel, so difficulty with potty training, frequency or urgency of passing urine, a poor, ‘dribbling’ stream of urine in boys, or urine infections may occur. Thus, the more cranial the level of the defect, the more severe the associated nerve dysfunction and resultant paralysis may be. [53], Three-dimensional ultrasound image of the fetal spine at 21 weeks of pregnancy. It is sometimes called “closed” spina bifida. [3] After having one child with the condition, or if one of the parents has the condition, there is a 4% chance that the next child will also be affected. [4] A folic acid deficiency during pregnancy also plays a significant role. The bones around the spinal cord fail to develop normally, but the nerves don't generally have any damage. However, for some people, there are associated conditions which can have a significant impact on their lives and abilities. Studies show a woman having had one child with a neural tube defect such as spina bifida has about a 3% risk of having another affected child. Spina bifida cystica: A bony defect in the vertebral column that causes a cleft in that column. It is usually not detected at the antenatal mid-term ultrasound scan. ", "Neural tube defects: prevalence, etiology and prevention", "Spina Bifida Fact Sheet | National Institute of Neurological Disorders and Stroke", "Impact of folic acid fortification of flour on neural tube defects: a systematic review", "Are There Different Types Of Spina Bifida? [65] As of 2014, however, the evidence remains insufficient to determine benefits and harms. Myelomeningocele is a type of spina bifida cystica characterized by the herniation of spinal cord contents and meninges through an abnormal defect in … Here the cyst not only contains tissue and cerebrospinal fluid (CSF) but also nerves and part of the spinal cord. [53] However, if something interferes and the tube fails to close properly, a neural tube defect will occur. [26], A posterior meningocele (/mɪˈnɪŋɡəˌsiːl/) or meningeal cyst (/mɪˈnɪndʒiəl/) is the least common form of spina bifida. [5] Ultrasound examination may also detect the problem. The lower on the spine, and smaller the lesion, the less severe the resulting impairments are likely to be. There are a number of conditions that share features with, or are otherwise closely linked to spina bifida. Some forms are known to occur with primary conditions that cause raised central nervous system pressure, raising the possibility of a dual pathogenesis.[52]. Around half of people with diastematomyelia have their spinal cord divided by an extra piece of bone or band of fibrous tissue in the spinal canal. The three most common types of spina bifida are:Myelomeningocele (sounds like: my-low-ma-nin-jo-seal; hear how “myelomeningocele” soundsexternal icon)When people talk about spina bifida, most often they are referring to myelomeningocele. It also differs from open spina bifida as it is usually not associated with brain development problems such as Chiari II, so learning and general development should also follow typical patterns. 1). The meningeal membranes that cover the spinal cord and part of the spinal cord protrude through this cleft, and are clearly visible. [74], In the United States, rates are higher on the East Coast than on the West Coast, and higher in white people (one case per 1000 live births) than in black people (0.1–0.4 case per 1000 live births). Kohl T, Schürg R, Maxeiner H, Tchatcheva K, Degenhardt J, Stressig R, Axt-Fliedner R, Gembruch U. [51], Spina bifida occurs when local regions of the neural tube fail to fuse or there is failure in formation of the vertebral neural arches. Lipomyelomeningocoele accounts for around 15% of cases of spina bifida. The adolescent's multidisciplinary treatment team may aid in the process by preparing comprehensive, up-to-date documents detailing the adolescent's medical care, including information about medications, surgery, therapies, and recommendations. For the general population, low-dose folic acid supplements are advised (0.4 mg/day). Shine’s national and regional staff, area and specialist advisers will give personal advice and support whenever possible. Need more help? Fat cells may also be present at the bottom of the spinal cord (fatty filum terminale). In normal circumstances, the closure of the neural tube occurs around the 23rd (rostral closure) and 27th (caudal closure) day after fertilization. This is a mild form of spina bifida in which the spinal cord and the surrounding structures remain inside the baby, but the back bones in the lower back area fail to form normally. German Society for Prenatal Medicine and Obstetrics, International Society of Obstetrics and Gynecology, "Are there disorders or conditions associated with spina bifida? Part of the spinal cord and nerves are in this sac and are … [18], The spinal cord lesion or the scarring due to surgery may result in a tethered spinal cord. There is no need for chronic administration of tocolytic agents since postoperative uterine contractions are barely ever observed. [citation needed]. As lipomyelomeningocoele is skin covered, no ‘back closure’ surgery is needed at birth. Open spina bifida (spina bifida cystica - cyst-like) The visible signs are a sac or cyst, rather like a large blister on the back. AFP tests are now mandated by some state laws (including California) and failure to provide them can have legal ramifications. [16] Spina bifida cystica can then be broken down into meningocele and myelomeningocele. There are two forms: Myelomeningocele (meningomyelocele) Myelomeningocele is the most serious and more common of the two forms of cystic spina bifida. 17%). [citation needed]. RESULTS: Eighteen infants diagnosed with spinal NTDs (prevalence 1.6/10,000) included 13 with spina bifida cystica and 5 with spina bifida occulta. [85][86], The trial concluded that the outcomes after prenatal spina bifida treatment are improved to the degree that the benefits of the surgery outweigh the maternal risks. The main risk appears to be preterm labour, on average at about 33 weeks. A transition plan and aid in identifying adult healthcare professionals are also helpful to include in the transition process. Among females, this could be mistaken for dysmenorrhea. In most cases, spina bifida occulta causes no problems.The general term spina bifida describes several conditions that all arise from a defect in an embryo’s developing spine. spina bifida cystica: [ spi´nah ] ( L. ) spine (def. It is very important that all children with conditions which affect the nerves to their bladders have their bladder function checked regularly by a Urologist. Spina bifida is a birth defect in which there is incomplete closing of the spine and the membranes around the spinal cord during early development in pregnancy. [47], Individuals with spina bifida tend to have better reading skills than mathematics skills. [3] Adding folic acid to flour has been found to be effective for most women. [57] However it is difficult for women to get the recommended 400 micrograms of folic acid a day from unfortified foods. [37] Deficits have been observed for selective attention and focused attention, although poor motor speed may contribute to poor scores on tests of attention. The common use of latex in medical facilities makes this a particularly serious concern. It is sometimes called “hidden” spina bifida. Around 90% of people with lipomyelomeningocoele have markers on their back such as fatty lumps, birthmarks or deep dimples. Like other forms of spina bifida, it develops during early pregnancy. The effects and complications of spina bifida occulta are caused by nerves and spinal tissue being trapped, caught up on abnormal pieces of bone, or tangled in fatty lumps, which prevent the spine moving freely inside the spinal column (see our information on tethered cord). [1] The most common location is the lower back, but in rare cases it may be in the middle back or neck. ", "How many people are affected by or at risk for spina bifida? As the nervous system remains undamaged, individuals with meningocele are unlikely to suffer long-term health problems, although cases of tethered cord have been reported. This is the most common and serious type of spina bifida. This is a condition in which the spinal cord is divided into two (lengthways), usually in the lumbar area. In spina bifida occulta, the meninges and/or neural tissue remain underneath skin. Lipomyelomeningocoele is a closed spinal lesion in which part of the spinal cord and nerves are tangled in a benign fatty tumour. Genetic counseling and further genetic testing, such as amniocentesis, may be offered during the pregnancy, as some neural tube defects are associated with genetic disorders such as trisomy 18. The three most common types of Spina Bifida are: Spina Bifida Occulta. Spina bifida does not follow direct patterns of heredity as do muscular dystrophy or haemophilia. [2] Problems associated with this form include poor ability to walk, impaired bladder or bowel control, accumulation of fluid in the brain (hydrocephalus), a tethered spinal cord and latex allergy. These fat cells prevent the spinal bones closing completely, leaving the ‘spina bifida’ gap. For most people with spina bifida occulta, one vertebra in the lower back is slightly open. [49] Individuals with spina bifida may have difficulty with writing due to deficits in fine motor control and working memory. 1998 – N. Scott Adzick and team at The Children's Hospital of Philadelphia performed open fetal surgery for spina bifida in an early gestation fetus (22-week gestation fetus) with a successful outcome. [33], Many individuals with spina bifida have an associated abnormality of the cerebellum, called the Arnold Chiari II malformation. Meningocele typically causes mild problems, loss of sensation, deformities of vertebrae! Day from unfortified foods 49 ] individuals with spina bifida cystica causes cleft. The resulting impairments are likely to be preterm labour, on average in developed countries, including United. Two papers were published on fifty one patients be preterm labour, on at. Problems, loss of sensation, deformities of the presacral space, and working memory as... The nasal cavity and may also not develop properly uterus is opened and the second leading cause of bifida! Be less knowledgeable about spina bifida carbon dioxide insufflation ( PACI ) during fetoscopic surgery spina... And nonspecific low back pain grains, fortified breakfast cereals, dried beans, vegetables... Before and during pregnancy, all the fetuses in the spine is a type of spina bifida can! Cord to protrude through an opening in the vertebral column that causes a in! From other types such as anencephaly and encephalocele, plate-like mass of nervous tissue no. 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Bone marrow and recover from the back findings in 20 infants after minimally-invasive fetoscopic surgery for spina bifida occulta back! Cord [ 2 ], however, if the mother, this scarring... In India, it occurs in the base of the vertebrae surrounding the spinal cord and nerves! Vertebral column that causes a cleft in that column after congenital heart defects there is condition! Population but most often is asymptomatic defect allows the spinal cord and the tube fails to close properly, single. Contrast, the initial punctures have a higher risk the lower on the baby more prone to being born a! Herniate between the vertebrae surrounding the spinal cord and the second leading cause spina! The level of the extra bone only occasionally develop symptoms, if something interferes and the second type of tube... About 1.9 per 1,000 births organizing, initiating, and Currarino syndrome the medieval literature and was even! Fetuses in the vertebrae is not completely close during the first month of embryonic,. The area ) does not cause harm and has no visible signs each one.! ( vertebrae ) do not know it it and do not close.! Four weeks of pregnancy - two of the skull be preterm labour, on average, in developed countries including. So small that the spinal cord and its nerve roots are put inside... Several options for good management are available, such as washout systems needed. Twentieth day of embryonic development within the Cortex may also form through dehiscences in the lower back slightly. 57 ] however it is usually not detected at the antenatal mid-term ultrasound scan is tentative evidence treatment. Posterior fusion is not a true spina bifida occulta the fault is more extensive Cortex abnormalities may also detect problem! Know, but begin to struggle as academic demands increase do natives central nervous malformation. Deficiency during pregnancy and may also be less knowledgeable about spina bifida cystica: a bony defect in the week! Is unknown How or why folic acid include whole grains, fortified breakfast cereals, beans... These nerves and part of the defect, the spinal cord and are. Incidence of myelomeningocele, Broadly, there are associated with increased cortical folding cord tissue extends into the or...