Spina bifida by literal definition of the word means a split spine. It is a congenital malformation of the spine in which there is a discontinuation that allows part of the spinal cord and its meninges to herniate through it.
The condition is mostly diagnosed at birth when there is a protrusion of meninges and natural elements on the back of the child through a defect in the spinal column. It can also be diagnosed in utero.
Infants with spina bifida can however present with lethargy, irritability, poor feeding, stridor and delay in reaching developmental milestones. Bigger children may present with cognitive changes, behavioral changes, weakness, back pain, change in bowel habit, bladder dysfunction, increased spasticity, and worsening spinal and lower orthopedic deformities.
Children with a more severe form, the Chiari type II malformation, may experience nystagmus, difficulty in swallowing, apnea, laryngeal and pharyngeal paralysis and weakness of the upper extremities. Physical examination would reveal some degree of motor and sensory loss. There would also be spinal and lower extremity deformities like lumbar lordosis, equinus contracture of the ankle, and genu valgus deformity amongst others .
Entire Body System
- Weight Gain
There was no neurological morbidity, but 1 month after the ETV she reported secondary amenorrhea and weight gain. [ncbi.nlm.nih.gov]
For those in wheelchairs, the weight gain is usually concentrated on the chest area which will affect breathing and may make bone abnormalities such as scoliosis (a bend in the back) or kyphosis (a forward bend) worse which in turn impedes the lungs ability [indi.ie]
Risks to the mother include infection, blood loss leading to the need for transfusion, gestational diabetes, and weight gain due to bed rest. [medicinenet.com]
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. [shinecharity.org.uk]
Dunwoodie, Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus, American Journal of Medical Genetics Part A, 161, 9, (2244-2249), (2013). [doi.org]
Others have lifelong disability, including inability to control their bowel or bladder, paraplegia (little or no ability to move the legs) or quadriplegia (little or no ability to move the arms and legs). [chw.org]
- Spastic Paraplegia
If transection of the long track is incomplete, the child will have spastic paraplegia with preservation of some voluntary movement and sensation. [web.archive.org]
- Alpha feto-protein can be tested through maternal blood and amniocentesis and an elevated level is highly suspicious of spina bifida.
- Urine culture
- Serum urea nitrogen creatinine 
- Fetal ultrasonography is increasingly being used for prenatal diagnosis and suspicion of the condition.
- CT scan
- Plain x-ray of the vertebrae
Other tests like psychometric assessment and gait analysis should be carried out.
The management of spina bifida requires a multidisciplinary approach by a team of well trained professionals and specialists as patients with this condition face difficult and diverse challenges along the way.
The initial standard care requires the use of antibiotics, as well as closure of the sac and placement of ventriculoperitoneal shunt. If the sac is irreparable, or if there is an active CNS infection or any immediate life threatening condition, supportive management alone may be instituted .
Surgery is performed immediately after birth if there is evidence of CSF leakage. If there is no leakage, it may be delayed a little but ideally not more than 48 hours.
Treatment and long term management approach involve bladder management, bowel management, bracing and orthotics, recreational therapy, physical therapy and occupational therapy .
Children who have the lesions at lower anatomic levels tend to have a more favorable prognosis. Also, many children survive if they are managed early and the lesion closed during the neonatal period.
Children with spina bifida manifest a number of complications including neurologic and urologic complications as well as skin ulcers. Individuals who have this condition can have some problems with cognitive function, continence, ambulation, general daily activities, and all-round quality of life. How well the children cope is dependent on the level of the lesion. The lower the lesion, the better the performance. Untreated infants have a mortality rate of over 90%. Survival generally depends on the level and severity of the lesion as well as cooccurring congenital anomalies .
The cause of spina bifida in most cases is attributed to more than one factor. It usually involves an interplay between genetic, environmental, and racial factors. Also chromosomal abnormalities, teratogens and cytoplasmic factors have also been suggested as possible causes. Only few cases can be linked to a particular causative factor. The most important factor that leads to this condition might however be nutritional and that is the deficiency of folic acid, as over 50% of spina bifida cases are linked with folic acid deficiency . Other risk factors are diabetes mellitus, febrile illness in pregnancy, maternal obesity, antiepileptic drugs and ovulation inducers.
The incidence of spina bifida is around 0.1% of the general population. They are the second commonest type of congenital anomalies. The incidence has been on a steady reduction and this is due to the increased awareness of the benefits of folic acid in pregnancy.
It occurs more in Caucasians and Hispanics than in blacks. More female babies are affected by this condition than male babies .
The neural tube starts to form in the third week of gestational life, before most women even know they are pregnant. Failure of the tube to close at any point leads to a form of spina bifida.
Myelomeningocele (the most severe form) happens when the caudal end of the neural tube does not fuse, causing an open lesion that contains nerve roots, spinal cord, meninges, vertebral bodies and skin. The level of the lesion determines the sensory, motor and neurological deficits that the patient suffers .
Spina bifida is a treatable condition that results from a defect in the neural tube during embryogenesis. It is one the commonest congenital malformations and there are different types including spina bifida occulta, spina bifida cystica (myelomeningocele), syringomeningocele, syringomyelocele and syringomyelia .
Spina bifida is a condition that results from incomplete closure of the spine causing some parts of the spinal cord and its coverings to protrude through it. It occurs during the formation of the baby in the womb.
The cause still remains entirely unclear, but scientist have stipulated that a lot of factors like environmental factors, hereditary factors and nutritional factors all have a hand in causing spina bifida. Folic acid deficiency has however been implicated in over half of the cases.
Sign and symptoms
Symptoms depend on the severity if the condition. It ranges from no symptoms in the mild forms to symptoms like loss of feeling and movement in the legs, poor bladder control, poor bowel habit, hydrocephalus, scoliosis, eye problems and cognitive disorders in the more severe forms .
It can be diagnosed during pregnancy with ultrasound and blood tests. If these tests are highly suggestive, a sample of the amniotic fluid will be tested to confirm the diagnosis. After birth, a wide range of laboratory and imaging tests will be required to know the extent of the disease.
The mild forms do not require treatment. The most severe forms usually require surgery and this is done immediately after the baby is born. Most importantly, a child with spina bifida will require long term management by different specialist and professionals.
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