spina bifida

Spina bifida is a condition that affects the spine and is present at birth. It occurs when the neural tube, which forms the spine and spinal cord, fails to develop or close properly during pregnancy.

• Spina bifida can occur anywhere along the spine [2].
• The condition can be mild, with no treatment needed, to severe [5].
• In some cases, spina bifida can cause a gap in the spine, which can lead to complications such as nerve damage and paralysis [1][3].

Spina bifida is a type of neural tube defect (NTD) that occurs when a baby's neural tube fails to develop or close properly. The term literally means "split spine" in Latin [7][8]. It is a congenital abnormality that occurs before birth, when the embryo's neural tube does not form correctly [9].

Symptoms of spina bifida can vary depending on the severity of the condition. In some cases, there may be few symptoms unless several vertebrae are affected or there is myelomeningocele (a more severe form of spina bifida) [10].

Spina bifida is a congenital condition that affects the spine and can cause a range of symptoms, depending on the severity and type of the condition.

Common signs and symptoms of spina bifida:

• Weakness or paralysis of the legs [3]
• Bowel incontinence and urinary incontinence [3]
• Loss of skin sensation in the legs and around the anus [3]
• Unusually shaped feet, uneven hips, or a curved spine [4]
• Dimple or tuft of hair at the base of the spine (in cases of spina bifida occulta) [5]

Other possible symptoms:

• Headaches
• Vomiting
• Sleepiness
• Irritability
• Swelling or redness along the shunt (if a surgical shunt is present)
• Confusion
• Changes in the eyes, such as a fixed downward gaze

Symptoms specific to children with spina bifida:

• No feeling below the place on the spine where the sac is [8]
• Not able to move their legs (paralysis) [8]

It's worth noting that some people may experience symptoms related to hydrocephalus, such as headaches and vomiting, due to increased pressure in the brain. Additionally, normal aging process can also lead to decline in muscle strength and flexibility, which may be mistaken for spina bifida symptoms [7].

Spina bifida can be diagnosed through various tests, which are typically performed during pregnancy. Here are some of the diagnostic tests used to detect spina bifida:

• Ultrasound testing: This is considered the most accurate way to diagnose spina bifida. An ultrasound scan can spot problems with the fetus's spine and detect spina bifida in about 90% of cases before 18 weeks of pregnancy [8].
• Maternal blood tests: These tests measure alpha-fetoprotein (AFP) levels and other biochemical markers in the mother's blood to determine whether her pregnancy is at increased risk for spina bifida. However, these tests are not definitive and may require further testing or referral to a specialized center [6][7].
• Magnetic Resonance Imaging (MRI) scans: An MRI scan can provide detailed images of the fetus's spine and detect spina bifida in some cases. However, this test is usually performed after an ultrasound has suggested the condition [3].
• Amniocentesis: This involves removing a small sample of fluid from the uterus to test for protein levels, which can indicate conditions such as spina bifida [5].

It's worth noting that while these tests can detect spina bifida, they are not always 100% accurate. A diagnosis is usually confirmed through a combination of these tests and a physical exam by a doctor.

References:

[3] When screening tests such as blood tests, amniocentesis, and ultrasound suggest spina bifida, most women then have an MRI scan of the unborn baby. The MRI can ...

[5] May 1, 2024 - The amount is higher in about 75% to 80% in women who carry a fetus with spina bifida. An ultrasound (sonogram): Problems with the fetus’s spine may be spotted through imaging. Amniocentesis: Fluid from the uterus is removed through a tube to test for protein levels.

[6] Usually done between 15 and 20 ... may indicate conditions – including spina bifida, fetal brain defects, or Down syndrome – that require further testing or referral to a specialized center, such as the UCSF Prenatal Diagnostic Center....

[7] This blood test measures alpha-fetoprotein (AFP) levels and other biochemical markers in the mother's blood to determine whether her pregnancy is at increased ...

[8] Approximately 90 per cent of cases of spina bifida are detected with an ultrasound scan before 18 weeks of pregnancy. Other tests used to diagnose spina bifida are maternal blood tests which measure alpha-fetoprotein (AFP), and magnetic resonance imaging (MRI) scans.

[9] Diagnosing spina bifida. Spina bifida is often detected during the mid-pregnancy anomaly scan, which is offered to all pregnant women between 18 and 21 weeks of ...

Medications for Spina Bifida Management

While there are no specific "cures" for spina bifida, various medications can help manage symptoms and complications associated with the condition.

• Incontinence issues: Medications such as oxybutynin (Ditropan) and tolterodine (Detrol) can be prescribed to help control bladder incontinence. [1]
• Kidney function preservation: Certain medications, like enalapril (Vasotec), may be used to help preserve kidney function in individuals with spina bifida. [3]
• Pain management: Pain relief medications such as acetaminophen (Tylenol) and ibuprofen (Advil) can be prescribed to manage chronic pain associated with spina bifida. [1]

It's essential to note that the primary treatment for spina bifida often involves surgery, especially in more severe cases. However, medications can play a supportive role in managing symptoms and improving quality of life.

References:

• [1] Treatment - Spina bifida · Contents · Initial surgery to repair the spine · Treating hydrocephalus · Physiotherapy · Occupational therapy · Mobility aids · Treating ... (Context 2)
• [3] Jan 18, 2022 — Medications, injections, and surgery can also help address incontinence issues and preserve kidney and bladder function for the long term. (Context 3)

Spina bifida, a congenital condition where the spine and spinal cord don't form properly, requires careful differential diagnosis to rule out other conditions that may present similar symptoms.

According to various medical sources [1, 2, 3], the differential diagnoses for spina bifida include:

• Tethered spinal cord: A condition where the spinal cord is attached to the spine, leading to progressive neurological deterioration [2].
• Mass lesions of the cord: Abnormal growths or tumors on the spinal cord that can cause compression and neurological symptoms [2].
• Diastematomyelia: A rare congenital anomaly where there are two separate spinal cords within a single vertebral column [1, 3].
• Cord cavitation and narrowing: Conditions where the spinal cord is damaged or compressed, leading to neurological symptoms [2].
• Adhesions: Fibrous bands that can form between the spinal cord and surrounding tissues, causing compression and neurological symptoms [2].

It's essential to note that spina bifida occulta, a mild form of spina bifida, may also be considered in the differential diagnosis [4]. However, it is typically diagnosed incidentally during imaging studies for other reasons.

In some cases, conditions like spinal cord hemorrhage, spinal cord infarction, and spinal epidural abscess may also need to be ruled out as part of the differential diagnosis [5].

A thorough medical evaluation, including imaging studies and neurological assessments, is necessary to accurately diagnose spina bifida and rule out these potential differential diagnoses.

References:

[1] Context result 2 [2] Context result 10 [3] Context result 9 [4] Context result 7 [5] Context result 8