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Background Spina bifida is the most complex but treatable central nervous system abnormality that comprises varying

degrees of spinal cord malformation. Spina bifida is classified as a defect of the neural tube (ie, the embryonic structure that develops into the spinal cord and brain). Recognized 4000 years ago, it is visibly evident at birth. Neural tube defects have a range of presentations, from stillbirth to incidental radiographic findings of spina bifida occulta. Spina bifida cystic, or myelomeningocele, is visibly evident at birth (see the images below). Patients with myelomeningocele present with a spectrum of impairments, but the primary functional deficits are lower limb paralysis and sensory loss, bladder and bowel dysfunction, and cognitive dysfunction.[ The lumbar region of a newborn baby with myelomeningocele. The skin is intact, and the placodecontaining remnants of nervous tissue can be observed in the center of the lesion, which is filled with cerebrospinal fluid.Myelomeningocele in a newborn. Laboratory screening tests for neural tube defects can be performed through blood tests, amniocentesis, or both. These typically are used in combination with fetal ultrasonography. (See Workup.) Treatment advances have allowed an increasing number of patients with neural tube defects to participate and be productive in mainstream society. However, medical, surgical, and rehabilitation issues arise in the patient with myelomeningocele from birth through adulthood. The need for a team approach is recognized in contemporary treatment of spina bifida. Bringing together a number of medical and surgical specialists can help to spare parents the strain and exhaustion of coordinating with multiple doctors and can ensure availability of necessary services. The orthopedic surgeon assumes a significant role in coordinating the many treatment components that together allow patients to gain maximum function and, particularly, independence. Participation in the care of patients with major, chronic physical disabilities requires commitment, coordination, and access to extensive clinical resources. Improved survival rates in patients with spina bifida can be expected with treatment; quality of life is at least partially dependent on the speed, efficiency, and comprehensiveness of that treatment from birth. Terminology and classification Spina bifida is a variable defect in which the vertebral arch of the spinal column is either incompletely formed or absent. The term bifida is from the Latin bifidus, or "left in 2 parts." Although the condition has also been referred to as myelodysplasia and myelomeningocele, spina bifida generally has been accepted as the preferred term, specifically by the American Academy of Orthopaedic Surgeons. Rachischisis posterior, the equivalent Greek term, is derived fromrachis, meaning spine, and schisis, meaning division (spondyloschisis in Latin).

Spina bifida cystica Spina bifida cystica (myelomeningocele), a neural tube defect, can occur anywhere along the spinal axis but most commonly is found in the lumbar region. In spina bifida cystica, the spine is bifid and a cyst forms. A meningocele, a cystic swelling of the dura and arachnoid, protrudes through the spina bifida defect in the vertebral arch. A person with a meningocele may have no neurologic sequelae. A myelomeningocele, the name of which refers to the myelo, or spinal cord, also may occur, protruding through the defect. According to Menelaus, the myelomeningocele form of spina bifida cystica is the most significant and common type of spina bifida, accounting for 94% of cases. (Spina bifida occulta is not included in this figure.) The most severe form of spina bifida cystica is the myelocele, or myeloschisis, variety, in which the open neural plate is covered secondarily by epithelium and the neural plate has spread out onto the surface. A child born with myelomeningocele requires specialty care and transfer to a center where neonatal surgery and closure can be performed. Surgery involves freeing lateral muscles and skin for coverage and attempting to form a closure of the neural elements with minimal scarring, because the late complication of a tethered cord has frequent and severe consequences. Spina bifida occulta Spina bifida occulta should be differentiated from spina bifida cystica. The term spina bifida does not refer to spina bifida occulta. The latter may be seen in a very large number of healthy adults. Some contend that it could be found in up to one third of healthy adults if imaging studies were used to analyze the posterior vertebral arch. Syringomeningocele Syringomeningocele is another form of spina bifida. The Greek word syrinx,meaning tube or plate, is combined with meninx (membrane) and kele (tumor). The term thus describes a hollow center, with the spinal fluid connecting with the central canal of the cord enclosed by a membrane with very little cord substance. Syringomyelocele Syringomyelocele is a type of spina bifida in which protrusion of the membranes and spinal cord lead to increased fluid in the central canal, attenuating the cord tissue against a thin-walled sac. Syringomyelia, or hydrosyringomyelia, is the presence of cavities in the spinal cord, which may occur as a result of the breakdown of gliomatous new formations. Diastematomyelia Diastematomyelia, from the Greek root diastema (interval) and myelon (marrow), is sometimes accompanied by a bony septum. This septum may cause a tethered cord and irreversible neurologic loss

from differential growth of the spinal canal exceeding the earlier developing spinal cord, but a tethered cord also may exist without a bony septum. Myelodysplasia Myelodysplasia is from the Greek term myelos, meaning spinal cord, combined with dys, for difficult, and plasi, for molding. This is an abnormality in the development of the cord and, thus, is an inappropriate description for spina bifida occulta, in which the cord is normal. However, it has nonetheless been used as a synonym for spina bifida. Dysraphia Dysraphia, from the Greek term raphia and its root, rhaphe, a seam, is a defective fusion of parts that normally unite. This term could be applied to the vertebral arch. Arnold-Chiari deformity Arnold-Chiari deformity is a malformation of the cerebellum, with elongation of the cerebellar tonsils. The cerebellum is drawn into the fourth ventricle. The condition also is characterized by smallness of the medulla and pons and by internal hydrocephalus. In fact, all patients with spina bifida cystica (failure to close caudally) have some form of Arnold-Chiari malformation (failure to close cranially). Craniorachischisis Craniorachischisis (total dysraphism) is a condition in which the brain and spinal cord are exposed. Malformation of other organ systems is common. This often results in early spontaneous abortion. Pathophysiology Neural tube defects are the result of a teratogenic process that causes failed closure and abnormal differentiation of the embryonic neural tube. Neural tube defects occur between the 17th and 30th day of gestation, at a time when the mother may not be aware that she is pregnant and the fetus is estimated to be about the size of a grain of rice. The most common neural tube defects are anencephaly and myelomeningocele. Anencephaly results from failed closure of the rostral end of the neural tube, resulting in incomplete formation of the brain and skull. Spina bifida cystica causes a problem when the meningeal cyst (meningocele) includes cord tissue extending into the cyst (in which case, it is a myelomeningocele). The condition is also of particular concern when the neural tube is completely open and the ependymal layer is exposed as a myelocele or myeloschisis. Meningocele alone may cause no neurologic problems if the cord is confined to the vertebral canal. Myelomeningocele results from failed closure of the caudal end of the neural tube, resulting in an open lesion or sac that contains dysplastic spinal cord, nerve roots, meninges, vertebral bodies, and skin (see

the image below). The anatomic level of the myelomeningocele sac roughly correlates with the patient's neurologic, motor, and sensory deficits.