NEURAL TUBE DEFECTS
PATHOGENESIS
The neural plate appears on the 17th day of gestation as a thickening of the embryonic ectoderm over the notochord. Complete fusion of neural tube usually occur between days 18-26 after ovulation. The cranial end of the neural tube closes by 24 days and caudal by 25-26 days. The early spinal cord of the embryo begin as a flat region, which rolls into a tube (neural tube) 28 days after the baby is conceived. When the neural tube does not close completely an NTD develops.
DEFECT IN FOLATE METABOLISM Altered folate metabolism Decreased methylation of proteins, lipids or metabolites Altered protein function, altered gene expression. NTD
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2 mutations of the folate dependent enzyme 5,10- Methylenetetrahydrofolate reductase ( MTHFR), MTHFR C677T and MTHFRA 1298C, are associated with an increase risk for NTDs. NTD s Anteriorly : anencephaly, encephalocele Posterior : spina bifida.
DEFINITION
NTD are malformations of the neuroectoderm and are associated with abnormalities of surrounding mesodermal structures. NTD is an opening in the spinal cord or brain that occurs very early in human development.
CLASSIFICATION
Open NTDS: they occur when the brain and or spinal cord are exposed at birth through a defect in the skull or vertebrae. Eg: spina bifida ( myelomeningocele), anencephaly and encephalocele Closed NTDs: they occur when spinal defect is covered by skin.eg: lipomyelomeningocele, lipomeningocele, tethered cord.
ANENCEPHALY
Cranial vault is absent. Brain initially protrudes through a defect in the cranial vault ( exencephaly) And is gradually destroyed because of mechanical injury & vascular disruption. Anencepahly is incompatible with life.
ENCEPHALOCELE
It is a protrusion of brain through a defect of the skull, usually in occipital area The protruding part is destroyed because of mechanical disruption and ischemia. Intracranial part is malformed and disrupted.
SPINA BIFIDA
The term spina bifida covers a range of vertebral and neural tube defects Result from failure of the posterior vertebral arch to fuse Most commonly occur in lumbo-sacral region
Spina bifida occulta ( SBO)
There is a benign or non symptom causing bony change in one or more vertebrae, but not involving the nerves within the spinal column. Commonest form of spina bifida True prevalence is unclear Isolated laminar defects are seen on about 5% of lumbar spine x-rays
conti The spinal cord is usually normal Only clinical sign is often a tuft of hairs of skin dimple at the site of the defect Neurological deficit is rare May present with subtle neurological abnormalities such as enuresis or incontinence
MENINGOCELE
Protrusion of the meninges outside the spinal canal accounts for 5% of cases No associated hydrocephalus, and neural examination is often normal.
MENINGOCELE
MYELOMENINGOCELE
Occurs in 80-90% of cases 80% are lumbosacral consisting of sac covered with a thin membrane that may leak CSF. Hydrocephalus occurs in approx 90% of cases at birth Usually associated with Chiari II malformation. Higher lesions associated with bladder outlet obstruction.
MYELOMENINGOCELE
CHIARI II MALFORMATION
Occurs in 70% of cases of myelomeningocele. Consist of downward protrusion of medulla below foramen magnum overlap the spinal cord. Problems include palsies and central apnea.
DIAGNOSTIC MEASURES
PRENATAL PERIOD Alpha feto protein Acetylcholinesterase leaks directly from exposed neural tissues into the amniotic fluid. Fetal karyotyping to detect chromosomal defects. USG
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POSTNATAL PERIOD Palpation & spinal X-ray for spina bifida occulta Myelography Skull X- ray, CT scan to detect hydrocephalus.
TREATMENT
Surgical closure of protruding sac and continue assessment of G & D. Supportive measures.
PREVENTION
Folic acid All women of childbearing age should : Consume 0.4mg of folic acid daily to reduce risk of having a child with NTD Continue to consume 0.4mg of folic acid daily when pregnant until the physician gives other prenatal vitamins.
Women at high risk
Receive genetic counseling before next pregnancy. Consume 0.4 mg of folic acid daily. When actively trying to conceive increase dosage of folic acid to 4 mg daily for first 3 months of pregnancy. Sources in food Spinach, turnip greens, lettuce, dried beans and peas, fortified cereals etc.
Recommended daily allowance( RDA) Women above 19 years of age: 400g Pregnancy 600 g Breast feeding 500g 1 g of food folate = 0.6g folic acid from supplements and fortified foods.
Folic acid and vitamin B-12
Folic acid can correct anemia associated with vitamin 12 deficiency. It will not correct changes in nervous system caused by vitamin B12 Intake of supplemental folic acid should not exceed 1000g per day to prevent it from masking symptoms of vitamin B12 deficiency.
Heart disease
Adequate concentration of folate, vitamin B12 or vitamin B6 may decrease the circulating level of homocysteine, an AA normally found in blood. Stroke: observed stroke reduction is consistent with the reduction in pulse pressure produced by folate supplementation of 5 mg per day since hypertension is a key risk factor for stroke.
Folate may help prevent cancer It is necessary for fertility both in men and women. In men it contributes to spermatogenesis Oocyte maturation, implantation, placentation in females.
NURSE S ROLE
Provide proper position to child Ensure infection control measures. Keep defect covered with sterile wet gauze to prevent infection . Involve parents in childs care. Discuss with parents about the disorder and expected outcomes. Plan about discharge.
