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Paeds Vivasneurology-neurodisability-and-neuromuscular

Paeds Vivas · neurology-neurodisability-and-neuromuscular

Neural tube defects and spinal dysraphism: Viva

Branching clinical structured oral on paediatric neural tube defects and spinal dysraphism covering the open and closed classification, the periconceptional folic acid prophylaxis, the maternal serum alpha-fetoprotein and fetal ultrasound, the neonatal management of myelomeningocele, the Chiari II and hydrocephalus, and the tethered cord and neurogenic bladder.

branching clinical structured oral3 min readVerification in progress

Target exams

RACP DWERACP DCEMRCPCH Clinical
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Target exams

RACP DWERACP DCEMRCPCH Clinical
Prompt
A term infant is born with a lumbosacral cystic lesion containing a visible neural placode. The mother took no periconceptional vitamins. The examiner asks how you classify neural tube defects, how you prevent them, how you make the prenatal and postnatal diagnosis, and how you manage the neonatal closure and the lifelong complications.

Branch 1: Classification and definition

The candidate should define neural tube defects as the failures of the neural tube to close during the third and fourth week of embryogenesis, and give the open and closed classification. The open defects expose neural tissue to the amniotic fluid and include anencephaly, the encephalocele, and the myelomeningocele. The closed defects cover the malformation with skin and include the meningocele, the spina bifida occulta, and the occult dysraphic states. [1]

If the examiner presses for the occult dysraphic states, the candidate should name the lipomyelomeningocele, where a lipoma tethers the conus, the diastematomyelia, where a bony spur splits the cord, the dermal sinus tract, where an epithelial track runs to the spinal canal, and the tethered cord syndrome, where a thickened fatty filum anchors the cord. A strong candidate explains that the open lesion is the neonatal emergency while the tethered cord is the childhood problem, and that the Chiari II malformation and the hydrocephalus belong almost exclusively to the myelomeningocele phenotype. [1]

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References6ShowHide
  1. [1]Copp AJ, Adzick NS, Chitty LS, et al Spina bifida. Nat Rev Dis Primers, 2015.PMID 27189655
  2. [3]MRC Vitamin Study Research Group Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. Lancet, 1991.PMID 1677062
  3. [5]Barry MJ, Nicholson WK, Silverstein M, et al. Folic Acid Supplementation to Prevent Neural Tube Defects: US Preventive Services Task Force Reaffirmation Recommendation Statement. JAMA, 2023.PMID 37526713
  4. [6]Adzick NS, Thom EA, Spong CY, et al A randomized trial of prenatal versus postnatal repair of myelomeningocele. N Engl J Med, 2011.PMID 21306277
  5. [7]Fons K, Jnah AJ Arnold-Chiari Malformation: Core Concepts. Neonatal Netw, 2021.PMID 34518383
  6. [8]Klinge PM, Leary OP, Allen PA, et al Clinical criteria for filum terminale resection in occult tethered cord syndrome. J Neurosurg Spine, 2024.PMID 38489815
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