Neural Tube Defects

Question 1

What does myelodysplasia mean?

Answer 1

Myelodysplasia refers to any defect of the neuroectoderm.

Question 2

What does myelocele mean?

Answer 2

Non-fused tube

Question 3

What is spina bifida?

Answer 3

Spina bifida is incomplete vertebral arch, spina bifida occulta if covered by skin.

Question 4

What does meningocele mean?

Answer 4

Meningocele – herniation through a bony defect and so contains dura and arachnoid

Question 5

What does myelomeningocele mean?

Answer 5

Myelomeningocele – herniation through a bony defect and so contains dura, arachnoid and involvement of the cord as well

Question 6

What is anencephaly?

Answer 6

Anencephaly is absent skull vault and cerebral cortex – not compatible with life.

Question 7

What is encephalocele?

Answer 7

Encephalocele means that part of the brain protrudes through the skull.

Question 8

What are the main risk factors for neural tube defects?

Answer 8

Young primips 
Lower social lcass
Homozygosity for a point mutation 
Previous affected child 
Parent affected

Question 9

What are the clinical features of spina bifida?

Answer 9

For occulta may simply be a birth mark or hair or skin flap covering the defect. For more severe cases there will be a more obvious herniation.
Neurological defects – vary considerably depending on level of the defect, involvement of neurons and whether it stimulated hydrocephalus.
Defect may progress after birth.
May be lots of difficulties with walking especially if around the lumbar level, those above L3 will never walk

Question 10

How should spina bifida be managed?

Answer 10

Surgery
Final outcome if early closure depends upon the ability of the kidneys after multiple UTIs and the extent of hydrocephalus.

Question 11

Can neural tube defects be detected prior to birth?

Answer 11

Antenatal diagnosis can often be made via US, termination is offered if any positive findings

Question 12

What complications often occur as a result of neural tube defects?

Answer 12

Walking issues
Faecal and urinary incontinence
Social and sexual isolation

Question 13

Can the risk of neural tube defects be reduced?

Answer 13

Folic acid 0.4mg daily for 3 months prior to conception and until 13 weeks gestation
Should be increased to 5mg if previous affected baby, diabetic, obese, or on epileptic medication.