Cleft spine (spina bifida, spina bifida)

Spina bifida is a defect in the closure of the spinal column. Although the cause is unknown, low folate levels during pregnancy increase the risk of this defect. Some cases are asymptomatic, while others result in severe neurological impairment below the lesion. Open spina bifida can be diagnosed prenatally by ultrasound or suspected by elevated levels of alpha-fetoprotein in the mother's serum and amniotic fluid. After birth, the defect is usually visible on the baby's back. Treatment for spina bifida is usually surgical.

Spina bifida is one of the most severe neural tube defects compatible with prolongation of life. Most often, the defect is localized in the lower thoracic, lumbar, or sacral spine and, as a rule, affects 3 to 6 vertebrae. The severity of the lesion varies from hidden, in which there are no obvious changes, to cystic protrusion (cystic spina bifida, spinal hernia), up to a completely open spine (rachischisis) with severe neurological impairment and death.

In occult spina bifida, abnormalities of the skin overlying the lower back (usually in the lumbosacral region) occur; these include sinus tracts with no apparent bottom, located above the lower sacral region, or not in the midline; areas of hyperpigmentation; and tufts of hair. These children often have spinal cord abnormalities below the defect, such as lipomas and abnormal tethering of the spinal cord.

In cystic spina bifida, the bulge may contain meninges (meningocele), spinal cord (myelocele), or both (meningomyelocele). In meningomyelocele, the bulge is usually made up of meninges with nerve tissue in the center. If the defect is not completely covered by skin, the bulge can easily rupture, increasing the risk of infection and meningitis.

Hydrocephalus is common in spina bifida and may be associated with Chiari II malformation or aqueductal stenosis. Other congenital anomalies such as impaired neuronal migration in the brain, syringomyelia, and soft tissue masses may also be present.

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Symptoms of spina bifida

Many children with minimal spina bifida are asymptomatic. When the spinal cord and spinal nerve roots in the lumbosacral region are involved, which is usually present, varying degrees of paralysis develop in the muscles below the level of the lesion. Absence or reduction of innervation of the muscles also leads to atrophy of the legs and decreased tone of the rectal muscles. Because the paralysis develops in the fetus, orthopedic problems may be present from birth (e.g., clubfoot, arthrogryposis of the legs, dislocation of the hip joints). Kyphosis is sometimes present, which prevents surgical closure of the defect and prevents the patient from lying on his back.

The function of the urinary bladder is also impaired, which leads to the appearance of urine backflow and the development of hydronephrosis, frequent UTIs and, ultimately, kidney damage.

Diagnosis of spina bifida

Spinal cord imaging, such as ultrasound or MRI, is essential; even children with minimal cutaneous findings may have underlying spinal abnormalities. Plain radiographs of the spine, hips, and, if indicated, lower extremities should be obtained along with ultrasound, CT, or MRI of the brain.

Once the diagnosis of spina bifida has been made, the child's urinary tract should be examined, including a urinalysis, urine culture, blood chemistry with urea and creatinine levels, and ultrasound. Measuring bladder capacity and the pressure at which urine enters the urethra can determine the prognosis and treatment strategy. The need for further testing, including urodynamics and voiding cystography, depends on the results obtained and associated developmental anomalies.

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Treatment of spina bifida

Without prompt surgical treatment, the spinal cord and spinal nerve damage may progress. Treatment requires a combined effort from several disciplines; it is important to initially conduct neurosurgical, urological, orthopedic, pediatric examinations, and to invite a social worker. It is important to assess the type of defect, its location and extent; the child's health and associated developmental anomalies. Before surgery, it is necessary to discuss with family members their strengths, desires, and capabilities, as well as the possibility of ongoing care and treatment.

Meningomyeloceles discovered at birth are immediately covered with a sterile drape. If cerebrospinal fluid is leaking from the bulge, antibiotic therapy is started to prevent meningitis. Neurosurgical repair of meningomyeloceles or spina bifida is usually performed within the first 72 hours after birth to reduce the risk of infection of the meninges or ventricles of the brain. If the defect is large or in a difficult to reach location, plastic surgeons may be consulted to ensure adequate closure.

Hydrocephalus may require ventricular shunt surgery in the neonatal period. Kidney function should be monitored regularly, and UTIs should be treated appropriately. Obstructive uropathy due to obstruction of urine flow from the bladder or at the ureteral level should be treated aggressively to prevent UTIs. Orthopedic treatment of spina bifida should be started early. Clubfoot should be treated with a plaster cast. Hip joints should be examined for dislocation. Patients should be examined regularly for developing scoliosis, pathological fractures, pressure ulcers, and muscle weakness and spasms.

Folate supplementation by women for 3 months before conception and during the first trimester of pregnancy reduces the risk of neural tube defects.

What is the prognosis for spina bifida?

Spina bifida has a variable prognosis; it varies depending on the degree of spinal cord involvement and the number and severity of associated malformations. The prognosis is worst when the defect is located high (e.g., thoracic spine) or when there is kyphosis, hydrocephalus, early hydronephrosis, or associated congenital malformations. With appropriate treatment and care, many children do well. Decline in renal function and complications of ventricular shunting are common causes of death in older patients.