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 PATHOLOGY AND MICROBIOLOGY 2
 Dr. SANA TAUQEER
 SENIOR LECTURER
 UIPT-UOL
 DPT, MS(OMPT)
Spina Bifida
What is spina bifida?
 Spina bifida, which literally means
“cleft spine,” is characterized by the
incomplete development of the brain,
spinal cord, and/or meninges.
 Spina bifida is one of the more
common birth defects in the United
States.
 It is among the most common severe
birth defects in the United States,
affecting 1,500 to 2,000 babies (one in
every 2,000 live births) each year.
PATHOPHYSIOLOGY
 The human nervous system develops
from a small, specialized plate of
cells along the back of an embryo.
 Early in development, the edges of
this plate begin to curl up toward
each other, creating the neural
tube—a narrow sheath that closes
to form the brain and spinal cord of
the embryo.
 the top of the tube becomes the brain
and the remainder becomes the spinal
cord.
 This process is usually complete by the
28th day of pregnancy.
 But if problems occur during this process,
the result can be brain disorders called
neural tube defects, including spina
bifida.
TYPES OF SPINA
BIFIDA
Myelomeningocele
 open spinal canal over some vertebrae, usually in
the middle or lower part of the back
 membranes and spinal cord pushed outside the back
in an exposed or skin-covered sack
 weak or paralyzed leg muscles
 seizures
 deformed feet
 hips that are not even
 scoliosis (curved spine
 issues with the bowel and bladder
Meningocele
 small opening in the back
 sack that’s visible at birth
 membranes pushing out through the opening in the
vertebrae into sack
 normal development of the spinal cord
 Membranes can be surgically removed in cases of
meningocele.
Spina bifida occulta
 a gap in between vertebrae
 no visible opening outside
 no fluid-filled sack outside the body
 small birthmark or dimple on the back
 small group or cluster of hair on the back
 an area of extra fat on the back
 A person may not ever know they have this type of
spina bifida.
 Closed neural tube defects make up the
second type of spina bifida.
 This form consists of a diverse group of
spinal defects in which the spinal cord is
marked by a malformation of fat, bone, or
membranes.
 In some patients there are few or no
symptoms; in others the malformation
causes incomplete paralysis with urinary
and bowel dysfunction.
What causes spina bifida?
 The exact cause of spina bifida remains a
mystery.
 No one knows what disrupts complete
closure of the neural tube, causing a
malformation to develop.
 Scientists suspect genetic, nutritional,
and environmental factors play a role.
 It appears to result from a combination
of genetic and environmental risk factors,
such as a family history of neural tube
defects, folic acid deficiency and
medical conditions such as diabetes and
obesity.
Risk factors
 Race. Spina bifida is more common among
Hispanics and whites of European descent.
 Family history of neural tube defects.
 Couples who've had one child with a neural
tube defect have a slightly higher chance of
having another baby with the same defect.
 That risk increases if two previous children
have been affected by the condition.
 In addition, a woman who was born with a
neural tube defect, or who has a close
relative with one, has a greater chance of
giving birth to a child with spina bifida.
However, most babies with spina bifida are
born to parents with no known family history
of the condition.
 Folic acid deficiency. This vitamin is
important to the healthy development of
a fetus. Lack of folic acid (vitamin B-9)
increases the risk of spina bifida and
other neural tube defects.
 Some medications. Anti-seizure
medications, such as valproic acid
(Depakene), seem to cause neural tube
defects when taken during pregnancy,
perhaps because they interfere with the
body's ability to use folic acid.
 Diabetes. The risk of spina bifida
increases with diabetes, especially when
the mother's blood sugar is elevated early
in her pregnancy. Much of this risk is
preventable by careful blood sugar
control and management.
 Obesity. There's a link between pre-
pregnancy obesity and neural tube birth
defects, including spina bifida. Obese
women may have more babies with spina
bifida possibly because of nutritional
deficits from poor eating habits or
because they may have diabetes.
 Increased body temperature.
 Some evidence suggests that increased
body temperature (hyperthermia) in the
early months of pregnancy may increase
the risk of spina bifida.
Complications
Factors that affect the severity of
complications include:
 The size and location of the neural
tube defect .
 Whether skin covers the affected area
 Whether spinal nerves come out of the
affected area of the spinal cord.
 Children with myelomeningocele may
experience physical and neurological
problems, including lack of normal
bowel and bladder control, and partial
or complete paralysis of their legs.
 Babies born with myelomeningocele also
commonly experience accumulation of fluid in
the brain, a condition known as hydrocephalus.
 Most babies with myelomeningocele will need a
shunt .
 A shunt is a hollow tube surgically placed in
the brain (or occasionally in the spine) to help
drain cerebrospinal fluid and redirect it to
another location in the body where it can be
reabsorbedThe majority of newborns with
myelomeningocele survive.
 Some may develop meningitis, an infection in
the tissues surrounding the brain
 Children with myelomeningocele may
develop learning disabilities.
 Children with spina bifida may also suffer
from allergies, skin problems, urinary
tract infections, gastrointestinal disorders,
seizure disorders, depression, and social
and emotional problems.
Screening and diagnosis
(1)Blood tests
 second trimester maternal serum
alpha fetoprotein (MSAFP)
 alpha-fetoprotein (AFP) is made
naturally by the fetus and placenta.
 But if abnormally high levels of this
protein appear in the mother’s
bloodstream it may indicate that the
fetus has a neural tube defect.
 The MSAFP test, however, is not
specific for spina bifida.
 Ultrasound: An advanced ultrasound can also
detect signs of spina bifida.
 Amniocentesis
An analysis indicates the level of AFP present
in the amniotic fluid.
 A small amount of AFP is normally found in
amniotic fluid.
 when an open neural tube defect is present,
the amniotic fluid contains an elevated
amount of AFP because the skin surrounding
the baby's spine is gone and AFP leaks into the
amniotic sac.
 MRI
Treatment
 There is no cure for spina bifida.
 The nerve tissue that is damaged or lost
cannot be repaired or replaced.
 Treatment depends on the type and
severity of the disorder.
 children with the mild form need no
treatment .
 The key priorities for treating
myelomeningocele are to prevent
infection from developing through the
exposed nerves and tissue of the defect
on the spine
 To protect the exposed nerves and
structures from additional trauma.
 Doctors have recently begun performing
fetal surgery for treatment of
myelomeningocele.
 Fetal surgery involves opening the
mother’s abdomen and uterus and
sewing shut the opening over the
developing baby’s spinal cord.
 They believe the earlier the defect is
corrected, the better the outcome is
for the baby.
 Still, the benefits of fetal surgery are
promising
 Early surgery on the spinal cord may
allow the child to regain a normal
level of functioning and prevent
further neurological deterioration.
 Some children will need subsequent
surgeries to manage problems with the
feet, hips, or spine.
 Individuals with hydrocephalus
generally will require additional
surgeries to replace the shunt
 Some individuals with spina bifida require assistive
devices such as braces, crutches, or
wheelchairs.
 The location of the malformation on the spine
often indicates the type of assistive devices
needed.
 Treatment for paralysis and bladder and bowel
problems typically begins soon after birth
Prevention
 Folic acid is an important vitamin in the
development of a healthy fetus.
 Recent studies have shown that by adding
folic acid to their diets, women of
childbearing age significantly reduce the
risk of having a child with a neural tube
defect, such as spina bifida.
 Dosage:400 micrograms of folic acid daily
 Foods high in folic acid include dark green
vegetables, egg yolks, and some fruits.
Prognosis
 Prognosis is poorest for those with
complete paralysis, hydrocephalus,
and other congenital defects.
 Prognosis depends on the number
and severity of abnormalities and
associated complications.
References
 https://www.ninds.nih.gov/Disorders/All-
Disorders/Spina-Bifida-Information-
Page#:~:text=Prognosis%20is%20poorest%20for%20those,
number%20and%20severity%20of%20abnormalities.
 https://www.ninds.nih.gov/Disorders/Patient-
Caregiver-Education/Fact-Sheets/Spina-Bifida-Fact-
Sheet
 https://my.clevelandclinic.org/health/diseases/8719-
spina-bifida
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spina bifida types classifications and detailed patho

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  • 2.  PATHOLOGY AND MICROBIOLOGY 2
  • 3.  Dr. SANA TAUQEER  SENIOR LECTURER  UIPT-UOL  DPT, MS(OMPT)
  • 5. What is spina bifida?  Spina bifida, which literally means “cleft spine,” is characterized by the incomplete development of the brain, spinal cord, and/or meninges.  Spina bifida is one of the more common birth defects in the United States.  It is among the most common severe birth defects in the United States, affecting 1,500 to 2,000 babies (one in every 2,000 live births) each year.
  • 6. PATHOPHYSIOLOGY  The human nervous system develops from a small, specialized plate of cells along the back of an embryo.  Early in development, the edges of this plate begin to curl up toward each other, creating the neural tube—a narrow sheath that closes to form the brain and spinal cord of the embryo.
  • 7.  the top of the tube becomes the brain and the remainder becomes the spinal cord.  This process is usually complete by the 28th day of pregnancy.  But if problems occur during this process, the result can be brain disorders called neural tube defects, including spina bifida.
  • 9. Myelomeningocele  open spinal canal over some vertebrae, usually in the middle or lower part of the back  membranes and spinal cord pushed outside the back in an exposed or skin-covered sack  weak or paralyzed leg muscles  seizures  deformed feet  hips that are not even  scoliosis (curved spine  issues with the bowel and bladder
  • 10. Meningocele  small opening in the back  sack that’s visible at birth  membranes pushing out through the opening in the vertebrae into sack  normal development of the spinal cord  Membranes can be surgically removed in cases of meningocele.
  • 11. Spina bifida occulta  a gap in between vertebrae  no visible opening outside  no fluid-filled sack outside the body  small birthmark or dimple on the back  small group or cluster of hair on the back  an area of extra fat on the back  A person may not ever know they have this type of spina bifida.
  • 12.  Closed neural tube defects make up the second type of spina bifida.  This form consists of a diverse group of spinal defects in which the spinal cord is marked by a malformation of fat, bone, or membranes.  In some patients there are few or no symptoms; in others the malformation causes incomplete paralysis with urinary and bowel dysfunction.
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  • 15. What causes spina bifida?  The exact cause of spina bifida remains a mystery.  No one knows what disrupts complete closure of the neural tube, causing a malformation to develop.  Scientists suspect genetic, nutritional, and environmental factors play a role.  It appears to result from a combination of genetic and environmental risk factors, such as a family history of neural tube defects, folic acid deficiency and medical conditions such as diabetes and obesity.
  • 16. Risk factors  Race. Spina bifida is more common among Hispanics and whites of European descent.  Family history of neural tube defects.  Couples who've had one child with a neural tube defect have a slightly higher chance of having another baby with the same defect.  That risk increases if two previous children have been affected by the condition.  In addition, a woman who was born with a neural tube defect, or who has a close relative with one, has a greater chance of giving birth to a child with spina bifida. However, most babies with spina bifida are born to parents with no known family history of the condition.
  • 17.  Folic acid deficiency. This vitamin is important to the healthy development of a fetus. Lack of folic acid (vitamin B-9) increases the risk of spina bifida and other neural tube defects.  Some medications. Anti-seizure medications, such as valproic acid (Depakene), seem to cause neural tube defects when taken during pregnancy, perhaps because they interfere with the body's ability to use folic acid.
  • 18.  Diabetes. The risk of spina bifida increases with diabetes, especially when the mother's blood sugar is elevated early in her pregnancy. Much of this risk is preventable by careful blood sugar control and management.  Obesity. There's a link between pre- pregnancy obesity and neural tube birth defects, including spina bifida. Obese women may have more babies with spina bifida possibly because of nutritional deficits from poor eating habits or because they may have diabetes.
  • 19.  Increased body temperature.  Some evidence suggests that increased body temperature (hyperthermia) in the early months of pregnancy may increase the risk of spina bifida.
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  • 21. Complications Factors that affect the severity of complications include:  The size and location of the neural tube defect .  Whether skin covers the affected area  Whether spinal nerves come out of the affected area of the spinal cord.  Children with myelomeningocele may experience physical and neurological problems, including lack of normal bowel and bladder control, and partial or complete paralysis of their legs.
  • 22.  Babies born with myelomeningocele also commonly experience accumulation of fluid in the brain, a condition known as hydrocephalus.  Most babies with myelomeningocele will need a shunt .  A shunt is a hollow tube surgically placed in the brain (or occasionally in the spine) to help drain cerebrospinal fluid and redirect it to another location in the body where it can be reabsorbedThe majority of newborns with myelomeningocele survive.  Some may develop meningitis, an infection in the tissues surrounding the brain
  • 23.  Children with myelomeningocele may develop learning disabilities.  Children with spina bifida may also suffer from allergies, skin problems, urinary tract infections, gastrointestinal disorders, seizure disorders, depression, and social and emotional problems.
  • 24. Screening and diagnosis (1)Blood tests  second trimester maternal serum alpha fetoprotein (MSAFP)  alpha-fetoprotein (AFP) is made naturally by the fetus and placenta.  But if abnormally high levels of this protein appear in the mother’s bloodstream it may indicate that the fetus has a neural tube defect.  The MSAFP test, however, is not specific for spina bifida.
  • 25.  Ultrasound: An advanced ultrasound can also detect signs of spina bifida.  Amniocentesis An analysis indicates the level of AFP present in the amniotic fluid.  A small amount of AFP is normally found in amniotic fluid.  when an open neural tube defect is present, the amniotic fluid contains an elevated amount of AFP because the skin surrounding the baby's spine is gone and AFP leaks into the amniotic sac.  MRI
  • 26. Treatment  There is no cure for spina bifida.  The nerve tissue that is damaged or lost cannot be repaired or replaced.  Treatment depends on the type and severity of the disorder.  children with the mild form need no treatment .
  • 27.  The key priorities for treating myelomeningocele are to prevent infection from developing through the exposed nerves and tissue of the defect on the spine  To protect the exposed nerves and structures from additional trauma.  Doctors have recently begun performing fetal surgery for treatment of myelomeningocele.
  • 28.  Fetal surgery involves opening the mother’s abdomen and uterus and sewing shut the opening over the developing baby’s spinal cord.  They believe the earlier the defect is corrected, the better the outcome is for the baby.  Still, the benefits of fetal surgery are promising
  • 29.  Early surgery on the spinal cord may allow the child to regain a normal level of functioning and prevent further neurological deterioration.  Some children will need subsequent surgeries to manage problems with the feet, hips, or spine.  Individuals with hydrocephalus generally will require additional surgeries to replace the shunt
  • 30.  Some individuals with spina bifida require assistive devices such as braces, crutches, or wheelchairs.  The location of the malformation on the spine often indicates the type of assistive devices needed.  Treatment for paralysis and bladder and bowel problems typically begins soon after birth
  • 31. Prevention  Folic acid is an important vitamin in the development of a healthy fetus.  Recent studies have shown that by adding folic acid to their diets, women of childbearing age significantly reduce the risk of having a child with a neural tube defect, such as spina bifida.  Dosage:400 micrograms of folic acid daily  Foods high in folic acid include dark green vegetables, egg yolks, and some fruits.
  • 32. Prognosis  Prognosis is poorest for those with complete paralysis, hydrocephalus, and other congenital defects.  Prognosis depends on the number and severity of abnormalities and associated complications.