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After studying this chapter, the student should be able to:

  • Identify various neural tube defects and their associated congenital malformations.

  • Understand the genetic defects and clinical presentations of neurogenetic syndromes.

  • Identify the underlying pathophysiology, clinical presentation, and treatment for a variety of metabolic disorders.

  • Appreciate the difference between dysmyelinating and demyelinating disorders.

  • Understand the clinical manifestations of common pediatric epilepsy syndromes.


Pediatric neurology encompasses a vast array of disorders spanning all subspecialties of neurology, yet the pathophysiology, diagnosis, and treatment of neurologic disorders in children are often unique and require special attention. Although as a whole, pediatric neurologic disorders are less prevalent and burdensome than neurologic disorders in the adult population, they are nonetheless an important cause of chronic morbidity in children.

The most common chronic pediatric neurologic disorder is pediatric epilepsy, occurring in 0.5% to 1% of the pediatric population and accounting for approximately 15% of all epilepsy patients. The cost of pediatric epilepsy in the United States is approximately $20,000 per child in the first year after diagnosis. Cerebral palsy (CP) is the most common developmental disability in children, with a prevalence of 2 to 3 per 1000 children and occurring at an incidence between 8,000 and 10,000 children per year. The lifetime economic cost of CP in the United States has been estimated to be almost $1 million per child.

Although individually they are extremely rare, the wide array of metabolic disorders or inborn errors of metabolism have a collective incidence of 1 in 800 to 2500 births per year. Despite a low prevalence at approximately 0.3%, they account for 3.5% of neonatal deaths, indicating a disproportionately high mortality rate due to these disorders. Congenital anomalies have an even higher mortality rate, accounting for 17% to 42% of neonatal deaths worldwide, or 300,000 infants every year. Early detection and treatment of pediatric neurologic disorders are essential to reduce both the mortality and morbidity of these disorders.


The neural tube, which is the precursor of the central nervous system in the embryo, forms during the process of neurulation in the third and fourth weeks of development. A neural tube defect occurs when there is incomplete closure of the neural tube during this process. There are many forms of neural tube defects, which are differentiated based on the location and severity of the defect and protrusion of underlying tissues. The mildest forms of hindbrain anomalies are spina bifida occulta and spina bifida cystica, in which there is a protrusion of tissue through the defect. In spina bifida occulta, there is simply a failure of the vertebral arches to fuse. This defect can occur anywhere along the spine but usually occurs in the lumbar region. There can often be an overlying tuft of hair, dermal sinus, dimple, or skin tag, but otherwise, it is asymptomatic. This ...

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