Dysraphism

Aka: Dysraphism, Neural Tube Defect, Meningocele

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II. Definitions

  1. Dysraphism
    1. Incomplete raphe closure allows neural Herniation
  2. Meningocele
    1. Meningocele in both cranial and Spinal Dysraphism
    2. Meninges and spinal fluid Herniate via defect

III. Types

  1. Cranial Dysraphism (e.g. Encephalocele)
  2. Spinal Dysraphism (e.g. Spina bifida)

IV. Pathophysiology

  1. Neural tube fails to close in weeks 3-4 in-utero

V. Associated Conditions

  1. Hydrocephalus

VI. Labs: Prenatal Detection

  1. Serum Alfa-fetoprotein (sAFP) increased
    1. Routinely tested at 16-18 weeks gestation
  2. Amniotic fluid measurements
    1. Amniotic fluid Acetylcholinesterase increased
    2. Amniotic Alfa-fetoprotein increased

VII. Prevention

  1. Folic Acid supplementation before conception

VIII. References

  1. Goetz (1999) Neurology, Saunders, p. 515-16

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