Neonatology Book

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DysraphismAka: Neural Tube Defect, Meningocele

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  1. 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
  2. Types
    1. Cranial Dysraphism (e.g. Encephalocele)
    2. Spinal Dysraphism (e.g. spina bifida)
  3. Pathophysiology
    1. Neural tube fails to close in weeks 3-4 in-utero
  4. Associated Conditions
    1. Hydrocephalus
  5. 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
  6. Prevention
    1. Folic Acid supplementation before conception
  7. References
    1. Goetz (1999) Neurology, Saunders, p. 515-16

Meningocele (C0025299)

Definition (MSH)A congenital or acquired protrusion of the meninges, unaccompanied by neural tissue, through a bony defect in the skull or vertebral column.
ConceptsDisease or Syndrome (T047)
EnglishHerniation of Meninges, Meningeal Herniation, Meningeal Herniations, Meninges Herniation, Meninges Herniations, Meningocele, Meningoceles
Spanishmeningocele
CreditsDerived from the NIH UMLS (Unified Medical Language System)


Spina Bifida (C0080178)

Definition (MSH)Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete failure of neural tube and spinal cord fusion, resulting in exposure of the spinal cord at the surface. Spinal dysraphism includes all forms of spina bifida. The open form is called SPINA BIFIDA CYSTICA and the closed form is SPINA BIFIDA OCCULTA. (From Joynt, Clinical Neurology, 1992, Ch55, p34)
Definition (CSP)developmental anomaly characterized by defective closure of the bony encasement of the spinal cord, through which the cord and meninges may protrude.
ConceptsCongenital Abnormality (T019)
ICD9741
EnglishPosterior rachischisis, Schistorrhachis, Spina Bifida, Spina Bifidas, Spinal Dysraphia, Spinal Dysraphias, Spinal Dysraphism, Spinal Dysraphisms, Spinal dysrhaphia
Spanishespina bífida, espina bifida
CreditsDerived from the NIH UMLS (Unified Medical Language System)



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