Congenital Anomalies of Central Nervous System

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Congenital Anomalies of Central Nervous System

• Prof Samiya Naeemullah
• Diplomate American Board Of Pediatrics
• FCPS,FAAP.
• Head Of Department Of Pediatrics
• Islamic International Medical college

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Learning Objectives

• Recognize Anomalies of Head
• Hydrocephalus,Microcephaly
• How do they Present clinically
• Recognize anomalies of Spine
• Neural Tube defects
• Spina bifida
• Recognize clinical manifestations

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HYDROCEPHALUS

• Congenital
• Acquired
• Excessive accumulation of cerebrospinal fluid
  (CSF) in the cerebral cavity .
• There is either impaired absorption or increased
  production of CSF.
• There Is obstruction to the flow of CSF and
  dilatation occurs distal to obstruction
  

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Clinical features

• IN INFANTS
• Accelerated rate of enlargement of head
• Anterior fontanel is wide and bulging
• Scalp veins are dilated
• The forehead is broad
• Fixed downward gaze
• And sunsetting of eyes

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OLDER CHILDREN

• Irritability,lethargy
• poor appetite
• vomiting,headache
• A gradual change in personality and intellectual
  productivity
• Serial measurement in head circumference shows
  increased velocity

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EXAMINATION

• Cracked Pot sign
• Papilledema,
• Abducens nerve palsy
• Pyramidal tract sign more evident in lower limbs

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MACROCEPHELY

• Head circumference above 98th percentile
• Normal children may have large heads
• Familial
• Tall stature
• Hydrocephalus
• Subdural hematoma,Cerebral tumour,
• Cerebral gigantism

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MICROCEPHALY

• Head circumference below 2nd centile
• Abnormalities in fetal development during
  neuronal migration
• Familial
• Autosomal recessive condition with developmental
  delay
• Congenital infection
• Perinatal Asphyxia,meningitis

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NEURAL TUBE DEFECTS

• Failure of the neural tube to close spontaneously
  between 3rd 4th week in utero development
• CAUSES
• Maternal Diabetes
• Maternal obesity
• Mutations in folate dependent or folate
  responsive pathways

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MAJOR DEFECTS

• Spina bifida occulta
• Meningocele
• Myelomeningocele
• Encephalocele
• Anancephaly
• Dermal sinus
• Tethered cord

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SPINA BIFIDA OCCULTA

• Midline defect of the vertebral bodies without
  protrusion of the spinal cord or meninges
• Mostly asymptomatic
• In the midline of the lower back(L5 S1)
• Patches of hair,
• Lipoma,
• Discolouration of skin
• Dermal sinus
• ,

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MENINGOCELE

• Meninges herniate through a defect in
  posterior vetebral arches
• A fluctuating midline mass that transilluminates
  occurs along the vetebral column in lower back
  well covered with skin

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MYELOMENINGOCELE

• Most severe form of dysraphism
• 1 in 4000 live births
• Lumbosacral in 75 of cases.
• Dysfunction of many organs and
  structures including skin, skeleton,
  gastrointestinal and genitourinary tract.

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NEUROLOGIC DEFICIT

• Depends on the location of defect
• Low sacral
• Bladder and Bowel incontinence
• Mid Lumber Region
• Flaccid paralysis of lower limbs
• Absent deep tendon reflexes
• Lack of response to touch and pain
• High incidence of lower extremity deformities.

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ANENCEPHALY

• A defect in the calvarium
• meninges and scalp
• Rudimentary brain
• failure of closure of rostral neuropore (opening
  of the anterior neural tube.)
• The cerebral hemispheres and cerebellum are
  absent and a residue of brainstem present

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PREVENTION

• Folic Acid Tablets
• 4 mg daily one month before conception