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Chapter 16
Defects of Neural Tube Closure
 Anencephaly
 Encephalocele
 Meningocele
 Myelomeningocele
Structural Malformations
Malformations of the Axial Skeleton
 Spina bifida occulta
 Vertebral defect that allows the protrusion of the neural
tube contents
Inherited Metabolic Disorders of the Central Nervous
System
 Defects in amino acid metabolism
 Phenylketonuria (PKU) → hyperphenylalaninemia
 Defects in lipid metabolism (lysosomal storage)
 Tay-Sachs disease

AR, -↓ hexosaminidase A, 80% Jewish
Phenylketonuria
Acute Encephalopathies
 Reye syndrome
 Drug induced (Table 16-6)
 Lead poisoning
Acute Encephalopathies
 Meningitis
 Bacterial
 Viral
HIV and CNS Involvement
 HIV infections in children
 Perinatally through the placenta
 Exposure to infected maternal blood and vaginal
secretions
 Postpartum ingestion of breast milk