A spinal fissure is a birth defect where the spine and spinal cord do not form completely during early pregnancy. Medically known as spina bifida, this condition is a type of neural tube defect. The neural tube, which develops into the brain and spinal cord, typically forms and closes within the first month after conception. When a portion of this tube fails to close, it results in a spinal fissure.
Understanding Spinal Fissures
Spinal fissures represent a spectrum of conditions, varying significantly in severity. The most common location for these defects is the lower back, though they can occur anywhere along the spine.
Spina bifida occulta is the mildest and most common type, often called “hidden” because the defect in the spinal bones is small and usually covered by skin. The spinal cord and nerves are typically unaffected, and many individuals experience no symptoms, often discovering the condition incidentally through imaging.
Meningocele is a rarer type where a sac of fluid protrudes through an opening in the spine. This sac contains spinal fluid and the protective membranes (meninges), but the spinal cord and its nerves are usually not involved. Individuals with meningocele may have minor issues with bladder and bowel function, but generally do not experience significant neurological problems.
Myelomeningocele represents the most severe form of spinal fissure, often referred to as open spina bifida. In this type, the spinal canal remains open, and part of the spinal cord and nerves protrude through the opening, forming a visible sac on the baby’s back. This exposure can lead to serious complications and varying degrees of disability due to nerve damage.
Causes and Contributing Factors
The development of spinal fissures is complex, involving genetic predispositions and environmental influences. A significant factor is inadequate folic acid intake during early pregnancy. Folic acid, a B vitamin, plays an important role in the proper development and closure of the neural tube.
Beyond nutrition, other factors can increase the likelihood of a spinal fissure. Certain medications, such as some anti-seizure drugs, may elevate the risk. Maternal health conditions, including uncontrolled diabetes and obesity, have also been associated with a higher incidence. A family history of neural tube defects can also indicate increased genetic susceptibility.
Identifying the Symptoms
The signs and symptoms of a spinal fissure vary widely depending on its type and severity. For spina bifida occulta, visible indicators on the skin above the spinal gap may include a tuft of hair, a small dimple, or a birthmark. Most individuals do not experience neurological symptoms, but some may have subtle issues like foot deformities, leg weakness, or bladder and bowel dysfunction.
In meningocele, the primary visible sign is a fluid-filled sac protruding from the spine, typically covered by skin. Neurological symptoms are generally absent because the spinal cord and nerves are not contained within the sac. However, some individuals may still experience mild bladder or bowel control problems.
Myelomeningocele presents with the most pronounced symptoms due to spinal cord and nerve involvement. A visible sac containing spinal cord tissue and nerves protrudes from the back, often without a skin covering, making the exposed nervous system vulnerable. This can lead to paralysis or weakness in the legs, loss of sensation below the defect, and issues with bladder and bowel control. Many infants also develop hydrocephalus, a buildup of fluid in the brain, and may have a Chiari malformation, where brain tissue extends into the spinal canal.
Diagnosis and Treatment Options
Spinal fissures can be identified both before and after birth through various medical procedures. Prenatal diagnosis often involves maternal blood tests, such as alpha-fetoprotein screening, and detailed ultrasounds, which can reveal signs of neural tube defects. Amniocentesis, a procedure to analyze amniotic fluid, may also be used to confirm a diagnosis.
Following birth, a physical examination can reveal visible signs of a spinal fissure, particularly in cases of meningocele and myelomeningocele. Imaging techniques like MRI, CT scans, and X-rays provide detailed views of the spinal column and cord, helping determine the extent of the defect. These imaging studies are important for planning treatment.
Treatment goals primarily involve preventing further damage and managing existing symptoms. For myelomeningocele, surgery to close the spinal opening is often performed shortly after birth, or prenatally. This intervention aims to protect the exposed spinal cord and prevent infection. Ongoing medical management and supportive therapies are also important. This includes physical and occupational therapy to address mobility challenges, as well as urological care for bladder and bowel dysfunction.
Living with a Spinal Fissure
Individuals living with a spinal fissure often require ongoing, multidisciplinary care throughout their lives. This comprehensive approach involves various specialists, including neurosurgeons, orthopedists, urologists, and physical therapists, to address diverse needs. Regular monitoring helps manage potential complications and optimize well-being.
While challenges like mobility limitations, bladder and bowel issues, and sometimes learning differences may be present, proper management and support can significantly improve quality of life. Assistive devices, adaptive strategies, and access to educational and community resources play an important role in enabling individuals to lead fulfilling lives. The long-term outlook varies greatly depending on the type and severity of the spinal fissure, as well as the effectiveness of ongoing care.