Section 1 Spina Bifida

**3**

**Chapter 1**

**Abstract**

the Spina Bifida

pathophysiology, meningomyelocele

**1. Introduction**

Etiology and Pathophysiology of

*René Opšenák, Romana Richterová and Branislav Kolarovszki*

The spina bifida is a congenital anomaly that results in an abnormal formation of the spine and the spinal cord. The two dominant types of spinal dysraphism are based on appearance - open spina bifida if the lesion is visible and closed spina bifida if the lesion is not visible on the body surface. These conditions lead to a different spectrum of neurological effects according to the degree of neurulation disruption. The prevalence of neural tube defects has different rates among different ethnicity, geography, gender, and countries. Genetic, nutritional and environmental factors play a role in the etiology and pathogenesis of the spina bifida. Congenital anomalies in the vast majority concern children living in the early neonatal period who have important medical, social or educational needs. The lifetime cost of a child born with the spina bifida is estimated at over €500,000.

**Keywords:** neural tube defects, spina bifida, spinal dysraphism, etiology,

Spinal dysraphism encompasses congenital problems that result in an abnormal

bony formation of the spine and the spinal cord. This congenital pathology is caused by the maldevelopment of the ectodermal, mesodermal, and neuroectodermal tissues. The spina bifida is a congenital anomaly that arises from incomplete development of the neural tube. It is commonly used as a nonspecific term referring to any degree of neural tube closure. The two dominant types of spinal dysraphism are based on the appearance – spina bifida aperta if the lesion is visible and spina bifida occulta if the lesion is not visible [1]. Common manifestations are meningocele, myelomeningocele, lipomeningocele, lipomyelomenigocele, myeloschisis, and rachischisis [1]. Spinal neural tube defects basicaly exist in two forms – open and closed spinal dysraphism. The most simple form with minimal involvement of nervous tissue is closed dysraphism (spina bifida occulta) where the vertebral defect is hidden. More severe open spinal dysraphisms (spina bifida aperta) mostly represented by meningocele or myelomeningocele result in various degrees of neurological deficit according to affected spine level, extent of lesion and amount of structures involved (**Figure 1**). In this defect there is a communication between nerve tissue and external environment leading to exposure to amniotic fluid and later leads to high risk of infection. Defect can be covered by a thin membrane. The exposed neural tissue degenerates *in utero,* resulting in
