COMMON CONGENITAL

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• COMMON CONGENITAL
• NEUROSURGICAL DISEASES
• Essam Elgamal

428 surgery team
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Outline

• Approach to Congenital Neurosurgical Diseases
• Development of the Nervous System
• Congenital Malformations
• Neural Tube Defect
• Congenital Hydrocephalus
• Arnold Chiari Malformation
• Dandy-Walker Cyst
• Arachnoid Cyst
• Craniosynostosis
• Neurocutaneous Syndromes

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What can go wrong with the brain?

• Neural Tube Defects
• Neuromigrational Disorders
• Cerebral palsy
• Seizures Epilepsy
• Hydrocephalus
• Neurofibromatosis
• Tuberous Sclerosis
• Sturge-Weber Syndrome
• Mitochondrial Disorders

• Abnormal development
• Pernatal Events
• Abnormal functioning
• Abnormal programming

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Development of the Nervous System
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Gross Development

• Ectoderm
• Will form nervous system and outer skin
• Endoderm
• Will form skeletal system and voluntary muscle
• Mesoderm
• Will form gut and digestive organs

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Developmental Sequence

• Neural plate invaginates as neural folds push up
• Neural folds eventually form neural groove
• Cells of neural fold eventuall meet
• Form the neural tube

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Developmental Sequence

• Neural tube runs anterior posterior along
  embryo
• Surrounding ectoderm eventually encloses neural
  tube
• When neural tube closes off brain and spinal cord
  are formed

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Human Embryo

• Primitive brain consists of 3 cavities that will
  form ventricles
• Brains gross features are then formed through a
  series of bends

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Human Embryo

• Developing embryo
• Goes through a series of folds or flexures
• Gives rise to the compact structure of the brain

Brain Diencephalon Midbrain
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Congenital Malformations
Neural Tube Defects (the most common
defect)(Dysraphism)
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Pathophysiology

• Spina bifida occulta (closed)
• 5-10 of population 1/1000 in US, 2/1000 in ksa
• not clinically significant
• tuft of hair, dimple sinus or port wine stain
• high incidence of underlying defect
• no treatment required just to cover it, U/S or MR

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Pathophysiology

• The openings at each end are termed the rostral
  and caudal neuropores, and close at around the
  24th and 27th days respectively
• If the neural folds do not fuse at the rostral
  end, anencephaly results
• If the neural folds do not fuse at the caudal
  end, myeloschisis (cleft spinal cord) results
  (the most severe form of spina bifida) treated as
  an emergency case, just few hour after delivery

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If it doesnt get closed myeloschisis
anencephaly
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• Failure of vertebral arch bony growth and fusion.
• Neurologic symptoms are usually absent, although
  problems may occur during growth owing to
  "tethering" of the spinal cord.
• Skin anomalies frequently overlie the defect,
  including a hairy patch, hemangioma, or dermal
  sinus

Meninges with CSF bulge through the defect coverd
by skin
Neural tissue is directly exposed
Same as B Spinal cord and its nerves enter the
defect
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• Multiple factors implicated not well understood
• Folate deficiency (most common cause)
• (there is no benefit to give folic acid after
  24th-27th day)
• Radiation chemicals
• Drugs
• Malnutrition
• Genetic determinants (mutations in
  folate-responsive or folate-dependent pathways)

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Diagnosis

• Maternal Alpha Fetoprotein
• AFP leaks into amniotic fluid, and then into
  maternal blood in case of open spina bifida
• Blood level taken 13-16 weeks gestation is used
  as a screening test
• Amniocentesis
• at around 18 weeks, allows detection of over 99
  percent of fetuses with neural tube defects
• Ultrasound
• MRI

U.S is the first way to detect neural tube
defect M.R.I is the confirmatory method to
detect neural tube defect
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Associated anomalies

• Assess for presence severity of
• Chiari Malformation
• Hydrocephalus
• Associated brain malformations
• Extremity deformities contractures
• Congenital kyphosis and/or scoliosis
• Other abnormalities (renal, bowel, bladder,
  cardiac)

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• Chiari II Malformation
• Cerebellar tonsil Herniation plus Medulla
  distortion and dysplasia
• Seen in gt50 of children with lumbar
  myelomeningocoeles
• Hydrocephalus results from aqueduct stenosis or
  an obstruction of outflow of CSF from 4th
  ventricle secondary to herniation
• Symptoms of raised ICP, oropharyngeal
  dysfunction, cranial nerve palsies,
  cardiorespiratory failure
• Dx by MRI
• Rx by Posterior fossa decompression VP shunt

• Chiari I Malformation
• Cerebellar herniation through foramen magnum
• Incidental finding headache neck pain
  oropharyngeal dysfunction
• Diagnosed in adulthood

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Further Assessment

• Latex Allergy (gloves) (all children with spina
  bifida are considered to have allergy to latex
  till prove otherwise )
• Seizures
• Nutrition obesity or malnutrition
• VP shunt dysfunction
• Psychosocial development

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Clinical manifestations

• Sacral and Low Lumbar (L4, L5) most common site
• Ambulate into adulthood
• Ankle/Foot orthoses (device to support limb
  function)
• Mid-lumbar (L3, L4)
• Difficulties with ambulation into adulthood
• As above plus crutches/walker
• Wheelchair for distances
• High lumbar Thoracic (L2 above)
• May be trained to ambulate in early childhood
• Hip-knee-ankle orthoses
• Walker or crutches but most wheelchair-bound

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Encephalocele

• Encephalocele A sac with a part of brain but
  this part
• doesnt work
• Usually occipital
• may contain occipital lobe, or cerebellum
• often associated with hydrocephalus
• Immediate treatment if ruptured to prevent
  infection
• outcome depends upon contents
• Meningeocele in skull A sac in the skull with
  no brain

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Congenital Hydrocephalus
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Definition

• Enlargement of brain ventricles (internal
  hydrocephalus) and/or subarachnoid spaces
  (external hydrocephalus), associated with
  increased ICP.
• The incidence 0.9 and 1.8/1000 live births.

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RATIONALE

• CSF secretion is an active process.
• 70 by ventricular choroid plexuses,
• 30 by extrachoroid sources
• capillary ultra?ltrate,
• ependyma,
• metabolic water production
• rate of production is 0.35 ml/min or 500 ml/day.
• 350ml/day reabsorbed

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• CSF is passively absorbed by
• arachnoid villi into venous dural sinuses
• other pathways of absorption
• spine venous plexuses.
• perivascular and the perineural sheaths.

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• PATHOPHYSIOLOGY
• 1. CSF overproduction
• hypervitaminosis A, choroid plexus tumors.
• 2. Obstruction to CSF ?ow.
• ventricular dilatation generates mechanical
  damages to the parenchyma.
• 3- decreased absorption by adhesion (NB
  adhesion occur in case of trauma, infection,
  hemorrhage )
• 4- DVT in dural veinous sinusis

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Clinical manifestations depends on age

• Infants young children
• 1. Increasing head circumference.2.
  Irritability, lethargy, poor feeding, and
  vomiting.3. Bulging anterior fontanelle.4.
  Widened cranial sutures.5. McEwen's cracked pot
  sign with cranial percussion. (palpable
  separation of cranial suture, percussion of the
  skull evokes a 'jagged' sound)6. Scalp vein
  dilation (increased collateral venous
  drainage).7. Sunset sign (forced downward
  deviation of the eyes, a neurologic sign almost
  unique with hydrocephalus).8. Epidsodic
  bradycardia and apnea HTN . Occur later in life

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Treatment

• Endoscopic third ventriculostomy
• CSF diversion
• V-P shunt
• V-A shunt
• V-Plural shunt
• V-sinus shunt

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Chiari malformation
type II chiari malformation associated with
lumbar myelomeningocoeles and may be ended up
with hydrocephalus
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Dandy-Walker cyst

• Cyst in cerebellar area ? no cerebellum
  cerebellar agenisis

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Arachnoid cyst

• Incidentally Dx, conservative Rx

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Craniosynostosiss
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Neurocutaneous Syndromes

• Tuberous Sclerosis

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Neurocutaneous Syndromes

• Neurofibromatosis Type 1

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Café au lait spot
Neufibromas
Lisch nodule
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Optic glioma
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Thank you abo-7med
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