Spina Bifida

DR ANIL SABHARWAL
MBBS,MD(MEDICINE)
 Spina bifida
• Spina bifida is a birth defect that occurs when the spine & spinal cord
don't form properly.
• It's a type of neural tube defect.
• Neural tube is a structure in developing embryo that eventually
becomes baby's brain, spinal cord & the tissues that enclose them
Incidence Congenital CNS Malformations
• The children reported with a major congenital malformation
represent 4.1% of live births. Males had a higher rate of major
congenital malformations than females (5.0% versus 3.2%),
• Among all fetal anomalies, CNS anomalies represent one of the most
frequently involved structures with an estimated incidence of 1 per
100 births
 Brain & Spinal Cord Development
• The CNS system involves 3 germinal layers: Ectoderm, Mesoderm &
Endoderm. . The ectoderm is specialized to form neural ectoderm
which gives rise to the neural neural crest,neural tube & later forms
brain, spinal cord, and peripheral nerves.
• The neural groove gradually deepens as the neural folds become
elevated, and ultimately the folds meet & unite in the middle line &
convert the groove into the closed neural tube.
 CNS Development
• The neural plate appears on the 17th day of gestation . This
neuroectoderm gives rise to the central nervous system.
• Defective closure of the neural tube results in neural tube defects
(NTDs). Depending on site of it may affect the brain (anencephaly,
encephalocele) or spinal cord (spina bifida), or both
(craniorachischisis), which is most severe NTD.
Development of CNS-spinal cord
 Spina Bifida
• Spina bifida is a condition that affects the spine and is usually
apparent at birth. It is a type of neural tube defect (NTD).
• Spina bifida can occur anywhere along the spine if the neural tube
does not close properly.
• This often results in damage to the spinal cord and nerves.
 Types of spina bifida
Spina bifida occulta,
Meningocele,
Myelomeningocele
• Myelomeningocele is the most serious type of spina bifida. A sac of
fluid comes through an opening in the back. Part of the spinal cord &
nerves are in this sac and are damaged.
• It causes moderate to severe disabilities in walking(motor deficit) loss
of feeling in the patient’s legs or feet(Sensory deficit) not able to
move the legs.
 Myelomeningocele
• Paralysis of the legs and
• loss of bladder and bowel function.
• Open defects allow entry of bacteria into the CNS
• . The same thing happens if the skin covering the meningomyelocele
becomes necrotic and infected.
• Some meningomyeloceles are a component of a more complex
malformation, the Chiari II malformation, which includes
hydrocephalus and abnormalities of the posterior fossa contents .
 Meningocele
• Meningocele -a sac of fluid comes through an opening in the back.
but, the spinal cord is not in this sac.
• There is usually little or no nerve damage.
• This type of spina bifida can cause minor disabilities.
 Spina bifida occulta
• Spina bifida occulta also known as hidden spina bifida, split spine
• A birth defect in the baby that occurs when the spine and the spinal
cord do not develop completely.
• Incidence -Rare (Fewer than 10 lakh cases per year in India)
 Causes
• It's thought to result from a combination of genetic, nutritional &
environmental risk factors, such as a family history of neural tube defects &
folate (vitamin B-9) deficiency.
• Risk factors Spina bifida is more common among white people cs, and
females are affected more often than males.
• Folate deficiency. Folate, the natural form of vitamin B-9, is important to the
development of a healthy baby. The synthetic form, found in supplements
and fortified foods, is called folic acid. A folate deficiency increases risk of
spina bifida & other NTD
• Family history of NTD Couples who've had one child with a NTD have a
slightly higher chance of having another baby with the same defect.
Risk factors
• Drugs eg valproic acid ,because they interfere with the body's ability
to use folate and folic acid.
• Diabetes. Women with uncontrolled diabetes have a higher risk of
having a baby with spina bifida.
• Obesity. Pre-pregnancy obesity is associated with an increased risk of
neural tube birth defects, including spina bifida.
• Hyperthermia in the early weeks of pregnancy may increase the risk
of spina bifida. Increases in core body temperature, due to fever or
use of a sauna or hot tub, have been associated with a slightly
increased risk of spina bifida.
Symptoms
• Spina Bifida Occulta involves only the vertebrae and not the spinal nerves
• Most people do not exhibit any signs or symptoms
• Abnormal tuft of hair Collection of fat,Small dimple or birth mark may be
noted at the site of defect in the spine
• Some of the symptoms may include:
• Foot deformity
• Back pain
• Weakness or numbness in hands or legs
• Pain in the back of the legs
 Symptoms
• Meningocele. - may cause problems with bladder & bowel function.
• Myelomeningocele. In this severe type of spina bifida:
• The spinal canal remains open along several vertebrae in the back
• Membranes & spinal cord or nerves protrude at birth, forming a sac
• Tissues and nerves usually are exposed, though sometimes skin
covers the sac
 Diagnosis
• Spina bifida can be diagnosed during pregnancy or after the baby is born. Spina bifida
occulta might not be diagnosed until late childhood or adulthood.
• During pregnancy there are screening tests (prenatal tests) to check for spina bifida.
• AFP (alpha-fetoprotein) This is a simple blood test that measures how much AFP has
passed into the mother’s bloodstream from the baby. A high level of AFP might mean
that the baby has spina bifida. An AFP test is part of a test called the “triple screen”
that looks for neural tube defects.
• Ultrasound – Frequently, spina bifida can be seen with this test.
• Amniocentesis Higher than average levels of AFP in the fluid might mean that the
baby has spina bifida.
• image scan, such as an, X-ray, MRI, or CT, t
 Alpha Feto Protein
• Neural tube defects can be detected in utero by determination of alpha-
fetoprotein (AFP) & acetylcholinesterase in the amniotic fluid and maternal
blood. AFP, a circulating fetal protein produced by the liver, peaks at 12-14
weeks of gestation and subsequently declines. AFP leaks from the fetus into
the amniotic fluid through exposed capillaries of the NTD. This results in
persistently high levels of AFP in the amniotic fluid and in the maternal
blood.
• Elevated AFP is also seen in other lesions where fetal capillaries are exposed
to the amniotic fluid such as omphalocele and sacrococcygeal teratoma.
• Acetylcholinesterase leaks directly from exposed neural tissue into the
amniotic fluid.
Treatment
• Treatment will vary by individuals depending on the symptoms and
severity of the condition.
• Prenatal surgery may be an option if detected during pregnancy.
• Analgesics: Acetaminophen ,Ibuprofen may be required to releive
pain.
• Surgery for tethered cord syndrome: To prevent or reverse the
progressive neurological symptoms
 Nutrition
• Foods to eat: folic acid containing foods in diet during pregnancy. For
e.g. bread, rice, breakfast cereals, beans, citrus fruits and juices, egg
yolk, dark green vegetables such as broccoli, spinach.
• Administration of 0.4 mg of folic acid from 4 weeks before to 8 weeks
after conception significantly reduces the occurrence of NTDs.
• Other causes of NTDs include diabetes mellitus and folate antagonists
such as antiepileptic drugs (phenytoin, valproic acid, and
carbamazepine)
Complications
• Walking and mobility problems. The nerves that control the leg
muscles don't work properly below the area of the spina bifida defect.
• This can cause muscle weakness of the legs and sometimes paralysis.
Whether a child can walk typically depends on where the defect is, its
size, and the care received before and after birth.
Complications
• Orthopedic complications.:
• Scoliosis
• Abnormal growth
• Dislocation of the hip
• Bone & joint deformities
• Muscle contractures
• Bowel and bladder problems. Nerves that supply the bladder and bowels
usually don't work properly when children have myelomeningocele. This is
because the nerves that supply the bowel and bladder come from the
lowest level of the spinal cord.
Complications
• Accumulation of fluid in the brain (hydrocephalus). Babies born with
myelomeningocele commonly experience hydrocephalus.
•