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Updated: Mar 18 2022

CNS Abnormalities

  • Forebrain
    • Anencephaly
      • failure of anterior neuropore to close resulting in failure of brain and calvarium to form
      • no swallowing center → polyhydramnios
      • ↑ AFP
        • most common cause of ↑ AFP is incorrect pregnancy dating
    • Holoprosencephaly
      • failure of prosencephalon to divide and form cerebral hemispheres
      • represents a field defect with regional manifestations including
        • absence of olfactory bulbs and tracts
        • cyclopia, cleft palate, cleft lip
      • associated with
        • Patau syndrome (trisomy 13) and Edwards syndrome (trisomy 18)
        • severe fetal alcohol syndrome
        • cleft lip/palate
        • fetal alcohol syndrome
  • Posterior Fossa
    • Dandy-Walker syndrome
      • dilation of 4th ventricle
      • absence of cerebellar vermis
      • small cerebellar hemispheres
      • posterior fossa cysts
      • enlargement of posterior fossa
      • associated with hydrocephalus and spina bifida
    • Arnold Chiari I
      • cerebellar tonsil herniation through foramen magnum
      • often presents in adulthood with chronic headaches and ataxia
      • associated with cervico-thoracic syringomyelia
      • milder in severity in comparison to type II malformations
    • Arnold Chiari II
      • due to small posterior fossa, the cerebellar tonsils herniate through foramen magnum causing aqueductal stenosis and hydrocephaly
      • may present with synringomelia, thoracolumbar spina bifida with myelomeningocele
      • symptoms present from compression of medulla oblongata and CN IX, X, and XI
        • reduced gag reflex
        • vocal cord paralysis
        • laryngeal stridor
        • swallowing difficulty
        • spastic dysphonia
  • Spinal Cord
    • Syringomyelia
      • central canal of spinal cord enlarges
      • nerves closest to central canal affected first
        • spinothalamic tract: bilateral loss of pain and temperature sensation in affected area, touch not affected
          • occurs most often at C8-T1
          • cape-like pattern loss
        • often associated with Chiari I, less frequently with Chiari II
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