**4. Etiology and pathophysiology**

Detailed etiology of spina bifida is not known but it is assumed to result from a combination of more factors - genetic, nutritional and environmental risk factors. Genetic risk factor is a family history of neural tube defect. Most important nutritional factor is folate deficiency. Even though exact mechanisms leading to spina bifida are not clearly known, there are some of researchers interest [11].

#### **4.1 Folate deficiency**

Folate is a natural form of vitamin B9. Its synthetic form is folic acid. Folate is important for proper intrauterine development of fetus. Its deficiency is connested not only with spina bifida, but also with occurence of all neural tube defects. Spina bifida is significantly more common in countries without legislation regulating full-coverage folic acid fortification of the food supply and less common in world regions with mandatory folic acid fortification [9].

#### **4.2 Positive family history of spina bifida**

Genetic factors seem to play important role in etiology of spina bifida. Couples with child born with spina bifida are at higher risk of having another child born with this defect. At higher risk of having child affected by spina bifida are also women who were born with neural tube defect and also higher frequency is in twins than in singletons. All this indicates a genetic contribution to etiology. But low frequency of families with multiple neural tube defects makes research more difficult [11].

#### **4.3 Medications**

Some drugs are under suspicion in contributing to higher risk of developmental disorders of neural tube. Mostly anti-convulsants (anti-seisure mediacation), such as valproic acid, when taken during pregnancy. They probably interfere with metabolism and utilization of folate and folic acid.

#### **4.4 Decompensated diabetes mellitus**

Women with decompensated or inadequatelly compensated glucose levels during early stages of pregnancy are at higher risk of having child with spina bifida.

#### **4.5 Obesity**

Spina bifida and all neural tube defects are more common in women with obesity. It is important to have adequate body mass index also prior to pregnancy.

#### **4.6 Hyperthermia**

Increased body temperature in early stages of pregnancy due to infection or using of sauna is believed to be potencially risky for having a child with neural tube defect.

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*Management of Pediatric Patients with Spina Bifida DOI: http://dx.doi.org/10.5772/intechopen.97237*

of medication to more safe one.

**5.1 Skin lesions or visible sac**

by skin.

**5.2 Paraparesis**

disability [18].

**5. Symptomatology**

Women with present risk factors should be medicated with higher dose of folic acid preconceptionally and also during pregnancy. In women who use more risky medication (f.e. anti-seizure medication) should be pregnancy planed with switch

Severity of symptoms depends on type of spina bifida ranging from no symptoms in spina bifida occulta to most severe in myelomenigocele. There are also interindividual differences. Spina bifida occulta is neurologically asymptomatic

Cutaneous lesions mostly in lumbar region could be associated with spina bifida or tethered spinal cord. Visible change of skin above the defect is usually an abnormal tuft of hair, dimple, subcutaneous lipoma or a birthmark [12]. Such skin lesion could also be a symptom of spinal cord abnormality that is covered

Sacral dimple is a common skin lesion and is found in 1,8 to 7,2% of newborns [13]. However, in most of newborns it is only a simple skin lesion without any effect on neurological functions. Possitive ultrasonography findings are usually filar cyst (24,8%), echogenic filum terminale (13,5%) and low-lying spinal cord (11,7%).

Simple solitaire sacral dimple in asymptomatic newborn with diameter less than 5 mm located no more than 25 mm above anal opening have extremely low risk of having spinal abnormality [15]. Considering this very low risk (approx. 0,34%), more recent guidelines state that sipmple solitaire non risky sacral dimples do not require additional imaging – only in case they are atypical, associated with other skin lesions or multiple. On the other hand around 86% of spinal dysraphisms are

Open defect is mostly situated in the lumbar region and is characterized by opened spinal canal along more vertebras. At birth meninges, spinal nerves and spinal cord protrude above surrounding skin level forming a sac. This sac could be also covered by skin. These open defects are easily recognized whereas smaller or

Degree of neurological impairment, walking disability and muscle weaknes depends on severity and extent of the defect, as well as on accuracy of prenatal or postnatal treatment. Neurological deficit varies from mild paraparesis to paraplegia. Myelomeningocele is the most common congenital anomaly causing physical

According to level of defect there are various degrees of motor disability (**Table 2**). Patients with thoracic defect have flacid lower extremities, patients with high-lumbar defect usually can perform flexion in hip joint, in middle-lumbar defect also extension in knee, in low-lumbar defect is also foot dorsiflection present and sacral defect

Neurological deficit in patients with spina bifida is thought to be result of the primary insult - the congenital anomaly and the second - from direct exposure of

because there is no involvement of neurologickal structures.

Some literary sources consider filar cyst as a normal finding [14].

closed defects can present only by overlying cutaneous lesions [17].

usually allows to perform also plantar flexion of foot [20].

spinal cord to amniotic fluid and intrauterine trauma [21].

associated with overlying cutaneous lesion [16].

*Management of Pediatric Patients with Spina Bifida DOI: http://dx.doi.org/10.5772/intechopen.97237*

Women with present risk factors should be medicated with higher dose of folic acid preconceptionally and also during pregnancy. In women who use more risky medication (f.e. anti-seizure medication) should be pregnancy planed with switch of medication to more safe one.
