Developmental disease of

spinal cord

By
Dr Hira WaqasCheema
Assistant professor
Anatomy
Learning objectives

 Explain the causes of neural tube

defects
 Explain the processes of development
of spina bifida
 Describe the clinical conditions
relevant to the development of neural
tube defects
Embryology
Human nervous system develops from a
specialized plate of cells along the back of the
embryo
Early in the development the edges of this
plate begin to curl up towards each other
creating the neural tube
Anterior end becomes brain and the
posterior become spinal cord.Complete by
28th day of pregnancy
EMBRYOLOGY:
 Spina bifida is caused by the failure of
the neural tube to close during the
first month of embryonic development
(often before the mother knows she is
pregnant).
 Under normal circumstances, the
closure of the neural tube occurs
around the 23rd (rostral closure) and
27th (caudal closure) day after
fertilization.
DEFINITION:
 Spina bifida (Latin: "split spine") is a
developmental congenital disorder caused by the
incomplete closing of the embryonic neural tube.
 Some vertebrae overlying the spinal cord are not
fully formed and remain unfused and open.
 If the opening is large enough, this allows a portion
of the spinal cord to protrude through the opening in
the bones.
 There may or may not be a fluid-filled sac
surrounding the spinal cord.
INCIDENCE:
 Spina bifida is one of most common birth
the
defects, with an average worldwide incidence of
one to two cases per 1000 births, but certain
populations have a significantly greater risk.
 Myelomeningocele is the most significant and
common form, and this leads to disability in most
affected individuals.
 This condition is more likely to appear in females;
the cause for this is unknown.
What causes spina bifida?
Risk factors
Pathogenesis
Types-spina bifida cystica(open type)
spina bifida occulta(closed type)
INCIDENCE:
 Spina bifida is one of most common birth
the
defects, with an average worldwide incidence of
one to two cases per 1000 births, but certain
populations have a significantly greater risk.
 Myelomeningocele is the most significant and
common form, and this leads to disability in most
affected individuals.
 This condition is more likely to appear in females;
the cause for this is unknown.
 Spina Bifida

SPLIT/CLEFT SPINE
Most common NTD
In lumbosacral region
1/1000 births
 CAUSES:
 Medications such as some anticonvulsants.
 Pregnant women taking Valproic acid have an

increased risk of having children with spina

bifida .
 Genetic basis.

 Folic acid deficiency

 Maternal diabetes

 Family history

 Obesity

 Increased body temperature

Folic acid
deficiency-
• 80-100% reduction in neural
tube defects with
administration of folic acid.
• Daily dose 0.4 mg.
• max dose 1mg/day
• Up to 4mg/day to women who
have given birth to a prior
affected child
TYPES:
 Spina bifida malformations
fall into three categories:
 spina bifida occulta
 spina bifida cystica with
meningocele
 spina bifida cystica with
myelomeningocele.
(The most common
location of the malformations
is the lumbar and sacral
areas)
Spina bifida
occulta
• Mildest form
• Incomplete formation of posterior arch of the
spinal column
• Usually incidental finding
• Seen in LS spine, commonest S1
• Occasionally patient may have fatty
deposit, hemangioma or tuft of hair
Spina bifida
cystica
 Two types:
• Meningocele- protrusion of only the
dura and arachnoid through the defect in
the vertebral lamina forming a cystic
swelling usually in lumbosacral area
• Spinal cord remains in the vertebral canal
Spina bifida
cystica
Myelomeningocele-
• 10 times more frequent
• portion of the spinal cord or the nerve
roots are displaced through the spina
bifida defect into the sac
MENINGOCELE:

 The least common form of spina bifida is a

posterior meningocele (or meningeal cyst).
In this form, the vertebrae develop normally,
but the meninges are forced into the gaps
between the vertebrae.
MYELOMENINGOCELE:
 This type of spina bifida often results in
the most severe complications.
 In individuals with
myelomeningocele, the unfused
portion of the spinal column allows the
spinal cord to protrude through an
opening.
 The meningeal membranes that
cover the spinal cord form a sac
enclosing the spinal elements.
 MYELOSCHISIS

 Spina bifida with myeloschisis is the most

severe form of myelomeningocele. In this
type, the involved area is represented by a
flattened, plate-like mass of nervous tissue
with no overlying membrane.
 The exposure of these nerves and tissues
make the baby more prone to life-
threatening infections such as meningitis.
CONTD…
 The protruded portion of the spinal cord
and the nerves that originate at that
level of the cord are damaged or not
properly developed.
 As a result, there is usually some degree
of paralysis and loss of sensation below the
level of the spinal cord defect.
Associated
conditions
• Hydrocephalus –
dilatation of ventricles of brain
from excessive CSF
• Seen in 80-90% of
meningomyelocele
• Patients with thoracic and upper lumbar
lesions have a higher incidence than
those with lower lumbar and sacral
lesions.
Arnold chiari
malformation

• Caudal displacement of posterior

lobe of cerebellum
• Causes dysfunction of lower cranial
nerves which results in weakness and
paralysis of vocal cords and difficulty in
feeding
• Placement of VP shunt often
resolves this problem
CLINICAL MANIFESTATIONS:

Physical Signs:
 Orthopedic abnormalities (i.e., club foot, hip
dislocation)
 Bladder and bowel control problems,
including incontinence, urinary tract
infections, and poor renal function.
 Pressure sores and skin irritations

 Abnormal eye movement

 68% of children with spina bifida

have an allergy to latex
 Paralysis
CONTD…
 Scoliosis
 Back pain
 Partial or complete lack of sensation
 Weakness of the hips, legs, or feet of a newborn
 Other symptoms may include:
 Hair at the back part of the pelvis called the
sacral area
 Dimpling of the sacral area
 Difficulty swallowing, which can lead to choking.
 Hoarseness.
 Breath-holding and problems breathing during
sleep.
 Below-average intelligence.
 Diagnostic evaluation

 Neural tube defects can usually be detected

during pregnancy by testing the mother's
blood (AFP screening) or a detailed
foetal ultrasound.
 Increased levels of maternal serum alpha-
fetoprotein (MSAFP) should be followed up by
two tests - an ultrasound of the foetal spine and
amniocentesis (to test for alpha-
fetoprotein and acetylcholinesterase).
NEUROLOGICAL COMPLICATIONS:

 Many individuals with spina bifida have an

associated abnormality of the cerebellum,
called the Arnold Chiari II malformation. In
affected individuals, the back portion of
the brain is displaced from the back of the
skull down into the upper neck.
EXECUTIVE FUNCTION:

 Specific areas of difficulty in some individuals

include planning, organizing, initiating, and
working memory. Problem-solving,
abstraction, and visual planning may also be
impaired.
 Children with spina bifida and shunted
hydrocephalus have higher rates of ADHD.
SOCIAL COMPLICATIONS:

 Compared to typically developing children,

youths with spina bifida may have fewer
friends and spend less time with peers.
DIAGNOSTIC EVALUATION:
 Pregnancy screening:
 Neural tube defects can usually be detected
during pregnancy by testing the mother's
blood (AFP screening) or a detailed fetal
ultrasound.
 Increased levels of maternal serum alpha-
fetoprotein (MSAFP) should be followed up
by two tests - an ultrasound of the fetal
spine
and amniocentesis of the mother's amniotic
fluid (to test for alpha-fetoprotein and
acetylcholinesterase).
PREVENTION:
 Dietary supplementation with folic acid has been
shown to be helpful in reducing the incidence of
spina bifida. Sources of folic acid include whole
grains, fortified breakfast cereals, dried beans, leaf
vegetables and fruits.
 It is recommended that any woman considering
becoming pregnant take 0.4 mg of folic acid a day.
Pregnant women need 1 mg per day.
TREATMENT:
 There is no known cure for nerve damage
caused by spina bifida.
 The spinal cord and its nerve roots are
put back inside the spine and covered
with meninges.
 In addition, a shunt may be surgically
installed to provide a continuous drain for
the excess cerebrospinal fluid produced in
the brain, as happens with
hydrocephalus.
 Shunts most commonly drain into the
abdomen or chest wall.
CONTD…
 Monitor growth and development of
bones, muscles, and joints.
 Treat and evaluate nervous system issues,
such as seizure disorders.
 Physical therapy

 Speech therapy
IMMEDIATE CARE:
 Place the child in prone position.
 Cover the affected area with sterile gauze
piece
dipped in normal saline.
 Maintain hydration.

 Monitor for associated defects.

LIFE LONG TREATMENT:
 Catheters
 Braces

 High fiber diet

 Antibiotics may be used to treat or

prevent infections such as meningitis
or urinary tract infections.
COMPLICATIONS:
 Difficult delivery with problems resulting
from a traumatic birth, including
cerebral palsy and decreased oxygen to
the brain
 Frequent urinary tract infections

 Hydrocephalus

 Loss of bowel or bladder control

 Meningitis

 Permanent weakness or paralysis of legs

THANK YOU