Neonatology Book

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Dysraphism

Aka: Dysraphism, 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.
Concepts Disease or Syndrome (T047)
MSH D008588
SnomedCT 171131006, 156890007, 268308005, 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
Czech meningokela
Spanish Meningocele, meningocele (trastorno), meningocele, Herniación de las Meninges, Herniación Meníngea, Herniacion Meningea, Herniacion de las Meninges
Finnish Meningoseele
Russian MENINGOTSELE, МЕНИНГОЦЕЛЕ
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
Croatian MENINGOKELA
Polish Przepuklina oponowa
French Méningocèle, Hernie des méninges, Hernie méningée
German Meningozele, Hernienbildung der Meningen, Meningeale Hernienbildung
Dutch Herniatie van de meninges, Meningeale herniatie, Meningokèle
Portuguese Herniação das Meninges, Herniação Meníngea, Meningocele
Sources
Derived from the NIH UMLS (Unified Medical Language System)


Spina Bifida (C0080178)

Definition (MEDLINEPLUS)

Spina bifida is the most common disabling birth defect in the United States. It is a type of neural tube defect, which is a problem with the spinal cord or its coverings. It happens if the fetal spinal column doesn't close completely during the first month of pregnancy. There is usually nerve damage that causes at least some paralysis of the legs. Many people with spina bifida will 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.

There is no cure. Treatments focus on the complications, and can include surgery, medicine and physiotherapy. 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 (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, Spina bifida, NOS, Spina bifida NOS, Spina bifida, unspecified, Spinal dysrhaphia, Spina Bifida, spina bifida (diagnosis), spina bifida, Cleft spine, Open spine, SPINA BIFIDA CONGENITAL, Spina Bifidas, Dysraphisms, Spinal, Spinal Dysraphisms, Schistorrhachis, Spina bifida NOS (disorder), Spinal Dysraphism [Disease/Finding], spinal dysraphism, Open Spine, Cleft Spine, Spina bifida, Spinal dysraphism, SB - Spina bifida, Spina bifida (disorder), Posterior rachischisis
Portuguese ESPINHA BIFIDA, Disrafismo Espinal, Disrafismo Espinhal, Espinha bífida, Espinha Bífida
Spanish ESPINA BIFIDA, Spina bifida, espina bífida (trastorno), espina bífida, SAI (trastorno), espina bífida, SAI, espina bífida, Espina bífida, Disrafia Espinal, Espina Bífida, Espina Bifida
Swedish Spinal dysrrafi
Japanese ﾆﾌﾞﾝｾｷﾂｲ, 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
Russian DIZRAFICHESKII STATUS, POZVONOCHNIKA RASSHCHELINA, SPINAL'NYI DIZRAFIZM, POZVONOCHNIKA NEZARASHCHENIE, SPINA BIFIDA, ДИЗРАФИЧЕСКИЙ СТАТУС, ПОЗВОНОЧНИКА НЕЗАРАЩЕНИЕ, ПОЗВОНОЧНИКА РАСЩЕЛИНА, СПИНАЛЬНЫЙ ДИЗРАФИЗМ
French SPINA BIFIDA, Spina bifida, Dysraphie spinale, Dysraphisme spinal
German SPINA BIFIDA, Spina bifida, nicht naeher bezeichnet, Spina bifida, Spinale Dysrhaphie, Spinale Spaltbildung
Korean 척추갈림증, 상세불명의 척추갈림증
Croatian KRALJEŽNICA, DISRAFIZAM
Polish Zespół dysraficzny, Dysrafizm, Rozszczep kręgosłupa
Hungarian Spina bifida
Dutch Spina bifida, niet gespecificeerd, spina bifida, Spina bifida
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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