Forms of spina bifida
The severity of the condition is determined by what exactly comes out through the defect. With the latent form, only the vertebral arches, spinal cord and membranes are in place, and a person can live his life without knowing it. With a meningocele, membranes containing fluid protrude outward, but the nerve tissue remains inside. The most severe form is myelomeningocele, when the spinal cord and roots are located in the hernial sac. Separately, combinations with a lipoma and a fixed spinal cord are distinguished, which appear later, as the child grows.
- Hidden spina bifida - non-fusion of the arches without a hernia
- Meningocele - protrusion of the membranes
- Myelomeningocele - the hernia contains the spinal cord and roots
- Lipomyelomeningocele - combination with adipose tissue
- Tethered spinal cord syndrome
- Often associated with hydrocephalus
Causes and prevention
The neural tube closes in the third or fourth week of pregnancy, often before the woman is even aware of it. If the process is disrupted, a defect is formed. The main controllable factor is the supply of folic acid: its intake before conception and in the first weeks of pregnancy significantly reduces the incidence of such defects. Additionally, the risk is increased by diabetes and obesity in the mother, taking certain anticonvulsants, high fever in the early stages, and a family history of neural tube defects.
- Folic acid deficiency before and early in pregnancy
- Maternal diabetes mellitus
- Obesity
- Taking certain anticonvulsants
- Neural tube defects in relatives
- Taking folic acid as prescribed by your doctor before conception
How it manifests itself
The open form is immediately visible: a sac-like formation or an open area with membranes is identified on the back of the newborn. Below the level of the lesion, there may be no movement or sensation, and the bladder and intestines are affected. The latent form often gives only skin signs: a pit, a tuft of hair, an area of pigmentation, or a subcutaneous wen along the midline. If the spinal cord is fixed, symptoms appear gradually in the growing child: back pain, changes in gait, foot deformities, urinary incontinence, differences in leg length.
- Visible formation on the back of a newborn
- Weakness or lack of movement in the legs
- Disorders of urination and stool
- Skin marks along the midline of the back
- Deformities of the feet and joints
- Head enlargement with concomitant hydrocephalus
Diagnostics
During pregnancy, the defect is often detected by screening ultrasound in the second trimester, and the structure of the fetal brain is additionally assessed. After birth, the diagnosis is obvious in the open form, but the extent of the lesion is clarified instrumentally. MRI of the spine shows the level of the defect, the condition of the spinal cord and the presence of fixation, and MRI or neurosonography of the brain shows concomitant hydrocephalus and Chiari malformation. It is imperative to evaluate the functioning of the kidneys and bladder using ultrasound, because it is urination disorders that determine the prognosis for the kidneys.
- Ultrasound of the fetus during pregnancy
- Examination of a newborn by a neonatologist and neurosurgeon
- MRI of the lumbosacral spine
- Neurosonography through the fontanel
- MRI of the brain
- Ultrasound of the kidneys and bladder
- Assessment of bladder function by a urologist
Treatment and support
The open defect is closed surgically on the first day of life to protect the nerve tissue from infection. Some centers also perform intrauterine correction. For hydrocephalus, a shunt is additionally installed or endoscopic surgery is performed. Next, the child needs many years of team assistance: a neurosurgeon, urologist, orthopedist, neurologist, and rehabilitation specialist. The most important part is regular emptying of the bladder according to a schedule selected by a urologist: this preserves the kidneys. Orthopedic shoes, orthoses, and physical therapy help with walking, but if the spinal cord is tethered, release surgery may be necessary.
- Closure of the defect on the first day of life
- Treatment of hydrocephalus with a shunt or endoscopically
- Regular emptying of the bladder according to the urologist’s scheme
- Preventing bedsores and skin care
- Orthoses, physical therapy, rehabilitation
- Surgery for tethered spinal cord syndrome
- Lifelong follow-up by a multidisciplinary team