Neonatology Book



Aka: Dysraphism, Neural Tube Defect, Meningocele
  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 (MSHCZE) Stav, kdy mozkové pleny vyhřezávají skrz rozštěp kostěného obalu (nejč. spina bifida), někdy s hromaděním likvoru (meningocystokéla). Druh vrozené vady, která může rovněž představovat překážku při porodu. Srov. meningo myelokéla. (cit. Velký lékařský slovník online, 2013 )
Definition (MSH) A congenital or acquired protrusion of the meninges, unaccompanied by neural tissue, through a bony defect in the skull or vertebral column.
Concepts Disease or Syndrome (T047)
MSH D008588
SnomedCT 268308005, 156890007, 171131006, 32941003, 253121009
English Meningoceles, Herniation, Meningeal, Herniations, Meningeal, Meningeal Herniation, Meningeal Herniations, Herniation of Meninges, Meninges Herniation, Meninges Herniations, Meningocele [Disease/Finding], meningocele, meningoceles, Meningocele (disorder), Meningocele, NOS, Meningocele [Ambiguous], Meningocele
Swedish Hjärnhinnebråck
Finnish Meningoseele
Japanese 髄膜ヘルニア, 髄膜瘤ヘルニア, 硬膜瘤, 髄膜瘤
Italian Ernia delle meningi, Meningocele
Polish Przepuklina oponowa
Norwegian Meningocele, Cranium bifidum, Hjernehinnebrokk, Meningeal herniering, Ryggmargshinnebrokk, Brokk, hjernehinne
Czech meningokéla, meningokela
French Hydroméningocèle, Méningocèle, Hernie des méninges, Hernie méningée
Spanish meningocele (trastorno), meningocele, Meningocele, Herniación de las Meninges, Herniación Meníngea
German Meningozele, Hernienbildung der Meningen, Meningeale Hernienbildung
Dutch Herniatie van de meninges, Meningeale herniatie, Meningokèle
Portuguese Herniação das Meninges, Herniação Meníngea, Meningocele
Derived from the NIH UMLS (Unified Medical Language System)

Spina Bifida (C0080178)

Definition (MEDLINEPLUS)

Spina bifida is a neural tube defect - a type of birth defect of the brain, spine, or spinal cord. It happens if the spinal column of the fetus doesn't close completely during the first month of pregnancy. This can damage the nerves and spinal cord. Screening tests during pregnancy can check for spina bifida. Sometimes it is discovered only after the baby is born.

The symptoms of spina bifida vary from person to person. Most people with spina bifida are of normal intelligence. Some people need assistive devices such as braces, crutches, or wheelchairs. They may have learning difficulties, urinary and bowel problems, or hydrocephalus, a buildup of fluid in the brain.

The exact cause of spina bifida is unknown. It seems to run in families. Taking folic acid can reduce the risk of having a baby with spina bifida. It's in most multivitamins. Women who could become pregnant should take it daily.

NIH: National Institute of Neurological Disorders and Stroke

Definition (NCI) A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae.
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 (PSY) Birth defect involving inadequate closure of the bony casement of the spinal cord, through which the spinal membranes, with or without spinal cord tissue, may protrude.
Definition (CSP) developmental anomaly characterized by defective closure of the bony encasement of the spinal cord, through which the cord and meninges may protrude.
Concepts Congenital Abnormality (T019)
MSH D016135
ICD9 741
ICD10 Q05, Q05.9
SnomedCT 156888006, 204017003, 67531005
English Bifida, Spina, Dysraphia, Spinal, Dysraphias, Spinal, Dysraphism, Spinal, Spinal Dysraphia, Spinal Dysraphias, Spinal Dysraphism, Spina bifida NOS, Spinal dysraphism, Spina bifida, unspecified, Spinal dysrhaphia, SPINA BIFIDA, Spina Bifida, spina bifida (diagnosis), spina bifida, Spina Bifidas, Dysraphisms, Spinal, Spinal Dysraphisms, Schistorrhachis, Spinal Dysraphism [Disease/Finding], spinal dysraphism, Cleft spine, Open spine, Cleft Spine, Open Spine, Spina bifida NOS (disorder), Defective spinal closure, Spina bifida, SB - Spina bifida, Spina bifida (disorder), Spina bifida, NOS, Posterior rachischisis
Portuguese ESPINHA BIFIDA, Disrafismo Espinal, Disrafismo Espinhal, Espinha bífida, Espinha Bífida
Spanish ESPINA BIFIDA, espina bífida, SAI (trastorno), espina bífida, SAI, espina bífida (trastorno), espina bífida, Espina bífida, Disrafia Espinal, Espina Bífida
Swedish Spinal dysrrafi
Japanese ニブンセキツイ, 脊柱披裂, 縫合障害状態, 脊椎披裂, 二分脊椎, 脊髄閉鎖不全症, 脊髄癒合不全
Czech spina bifida, páteř - dysrafie, Spina bifida
Finnish Selkärankahalkio
Italian Spina bifida, Schistorrhachis, Disrafia spinale
French SPINA BIFIDA, Dysraphie spinale, Rachischisis postérieur, Hydrorachis, Myélodysraphie, Spina bifida
German SPINA BIFIDA, Spina bifida, nicht naeher bezeichnet, Spina bifida, Spinale Dysrhaphie, Spinale Spaltbildung
Korean 척추갈림증, 상세불명의 척추갈림증
Polish Zespół dysraficzny, Dysrafizm, Rozszczep kręgosłupa
Hungarian Spina bifida
Norwegian Spinal dysrafi, Spinal dysrafisme, Spina bifida
Dutch Spina bifida, niet gespecificeerd, spina bifida, Spina bifida
Derived from the NIH UMLS (Unified Medical Language System)

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