Spina Bifida

Access exceptional care for spina bifida at Montefiore Einstein Urology at the Children’s Hospital at Montefiore Einstein (CHAM). As a leader in Urology, we are an academic-based referral site for the most complex and high-risk cases. For more than a century, we have been at the forefront of innovation, research and clinical care for genitourinary (GU) conditions.

Montefiore Einstein continues to make advances in the diagnosis and treatment of GU conditions. Our multidisciplinary team of specialists is passionate about uncovering diagnostic approaches and treatments that can improve outcomes.

At Montefiore Einstein Urology, you can expect compassionate research-based treatment plans that meet the highest standards for quality and safety. We are committed to ensuring your child will receive the best patient- and family-centered care in a supportive and nurturing environment.

When you want only the best for your child, turn to our dedicated providers who will develop a highly personalized treatment plan.

Spina bifida is classified into several types, each varying in severity: 

• Occulta: The mildest form, characterized by one or more small malformations in the vertebrae. This type is often asymptomatic and discovered incidentally during imaging for other reasons. 
• Meningocele: In this type, the protective membranes around the spinal cord (meninges) push through an opening in the vertebrae, forming a sac. Symptoms can range from minor to significant, depending on the involvement of the spinal cord. 
• Myelomeningocele: The most severe form, where both the meninges and spinal cord protrude through an opening in the spine. This can lead to significant neurological impairments, including mobility issues, bowel and bladder dysfunction, and hydrocephalus (fluid buildup in the brain). 
• Closed Neural Tube Defects: These involve malformations of the spinal cord, fat, or membranes that may or may not cause symptoms. When symptoms are present, they can include pain, weakness, or neurological deficits.

Each type requires tailored evaluation and treatment to address its unique challenges and potential complications.

The exact cause of spina bifida is unknown, but certain factors can increase the risk. Low intake of vitamin B9 (folate) during early pregnancy is a significant contributor, as folate is crucial for proper neural tube development. Other risk factors include a family history of neural tube defects and the use of certain medications during pregnancy, such as anti-seizure drugs. Environmental and genetic factors may also play a role. Research indicates that fortifying foods with folic acid has reduced the prevalence of spina bifida, but it remains a significant public health concern.

Symptoms of spina bifida can vary greatly depending on the type and severity of the condition. Mild cases, such as spina bifida occulta, may cause no noticeable symptoms, with only a dimple, birthmark, or tuft of hair on the spine as a potential sign. More severe forms, like myelomeningocele, can result in significant symptoms including chronic urinary or bowel incontinence, frequent urinary tract infections, back or leg pain, scoliosis, toe walking, and in some cases, partial or complete paralysis. Children born with myelomeningocele may have a visible sac or opening on their back at birth.

Spina bifida can often be detected during pregnancy through tests like the alpha-fetoprotein (AFP) test, amniocentesis, or ultrasound imaging. If physical symptoms are observed at birth, diagnostic imaging such as X-rays, MRIs, or CT scans may be used to confirm the diagnosis and assess the severity of the condition. These evaluations help guide the development of an individualized treatment plan.

Treatment for spina bifida depends on its type and severity. Mild cases, such as spina bifida occulta, may not require treatment. More severe cases, like myelomeningocele, often involve surgical intervention to repair the spinal cord or reduce fluid in the brain. Additional therapies, including physiotherapy and support from a multidisciplinary team, aim to enhance mobility and manage symptoms effectively.  

From a urologic standpoint, many treatments are available to help children achieve urinary and bowel continence. Treatment options may include medications, intermittent catheterization to empty the bladder, and potential surgical options as well. Many children require a combination of treatment options in order to achieve these goals and increase their independence. Treatment is tailored to each individual based on their specific urinary and bowel function.