Disorders of the Developing Nervous System
In spite of the immense complexity, most infants are born with a normal nervous system containing 50–100 billion functioning nerve cells. Unfortunately, 1–2 % of infants are born with major neurodevelopmental defects. Forty percent of defects occur from genetic mutations, exposure to toxins or teratogens, central nervous system infections, metabolic deficiencies, and trauma. The importance of the timing of the defect onset in gestation is discussed. Types of defects, dysplasia, heterotopia, hamartoma, and malformation are covered. The chapter then discusses the specific birth defects of anencephaly, Chiari syndrome, phenylketonuria (PKU), Tay–Sachs disease, Down syndrome, and the spectrum of cerebral palsy. Attention is given to their pathophysiology, major clinical features, major laboratory findings, and principles of management and prognosis.
KeywordsAnencephaly Chiari syndrome Phenylketonuria (PKU) Tay–Sachs disease Down syndrome Cerebral palsy Malformation Syringomyelia Phenylalanine hydroxylase deficiency Hexosaminidase A deficiency Lipid storage disease Trisomy 21 chromosome
- Pina-Garza JE. Fenichel’s Clinical Pediatric Neurology: A signs and symptoms approach (Expert Consult—Online and Print). 7th Ed., Saunders; 2013. (This and other pediatric neurology textbooks cover the many disorders of the developing nervous system in detail).Google Scholar
- Fernández AA, Guerrero AI, Martínez MI, Vázquez MEA, Fernández JB, Chesa i Octavio E, Labrado JDLC et al. Malformations of the craniocervical junction (Chiari type I and syringomyelia: classification, diagnosis and treatment). BMC Musculoskelet Disord. 2009;10(Suppl 1):S1. (A comprehensive review of Chiari malformation diagnosis and treatment options).Google Scholar
- Mitchell JJ. Phenylalanine hydroxylase deficiency. 2000 Jan 10 [Updated 2013 Jan 31]. In: Pagon RA, Adam MP, Bird TD, et al., (editors.) GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1504/. (A good website for concise and up-to-date information on various genetic diseases).
- Kaback MM, Desnick RJ. Hexosaminidase A Deficiency. 1999 Mar 11 [Updated 2011 Aug 11]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1218/. (A good website for concise and up-to-date information on various genetic diseases).
- Lott IT. Neurological phenotypes for Down syndrome across the life span. Prog Brain Res. 2012;197:101–21. (A concise review linking phenotype with neuropathological and neurophysiological evidence).Google Scholar