Abstract
The human brain undergoes several stages of intrauterine and postnatal development, each with specific and nonspecific vulnerabilities to developmental anomalies. In primary and secondary neurulation, there is normal development of the brain and spinal cord. The formation of the brain and spinal cord rostral to the lumbar segments is called primary neurulation. It occurs during the third and fourth weeks of gestation and begins at 18 days with the induction, by the notochord and chordal mesoderm, of the neuroectodermal plate derived from the dorsal midline of the ectoderm. Its lateral margins invaginate and close dorsally to form the neural tube, which gives rise to the CNS. The anterior end closes at about 24 days, and the posterior end, approximately at the lumbosacral level, closes at about 26 days. The surrounding mesoderm gives rise to the dura and the skull and vertebrae.
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Bibliography
Cornford E, Twining P. The Dandy-Walker syndrome: the value of antenatal diagnosis. Clin Radiol. 1992;45(3):172–4.
Davis GH. Fetal hydrocephalus. Clin Perinatol. 2003;30(3):531–9.
DeLange S. Progressive hydrocephalus. In: Vinken B, editor. Congenital malformations of the brain and skull, Handbook of clinical neurology, vol. 20. Amsterdam: Elsevier; 1977. p. 525.
Dobyns WB. Agenesis of the corpus callosum and gyral malformations are frequent manifestations of nonketotic hyperglycinemia. Neurology. 1989;39(6):817–20.
Frey L, Hauser WA. Epidemiology of neural tube defects. Epilepsia. 2003;44(Suppl 3):4–13.
Gilbert-Barness E, editor. Potter’s pathology of the fetus, infant and child. 2nd ed. Philadelphia: Elsevier; 2007.
Jeret JS, Serur D, Wisniewski K, Fisch C. Frequency of agenesis of the corpus callosum in the developmentally disabled population as determined by computerized tomography. Pediatr Neurosci. 1985–1986;12(2):101–3.
Jouet M, Kenwrick S. Gene analysis of L1 neural cell adhesion molecule in prenatal diagnosis of hydrocephalus. Lancet. 1995;345(8943):161–2.
Kinsman SL, Plawner LL, Hahn JS. Holoprosencephaly: recent advances and new insights. Curr Opin Neurol. 2000;13(2):127–32.
Lawrence K. Hydrocephalus and malformations in the central nervous system. In: Keeling W, editor. Fetal and neonatal pathology. London: Springer; 1987. p. 463.
Lewis AJ, Simon EM, Barkovich AJ, Clegg NJ, Delgado MR, Levey E, et al. Middle interhemispheric variant of holoprosencephaly: a distinct cliniconeuroradiologic subtype. Neurology. 2002;59(12):1860–5.
Lindhout D, Omtzigt JG, Cornel MC. Spectrum of neural-tube defects in 34 infants prenatally exposed to antiepileptic drugs. Neurology. 1992;42(4 Suppl 5):111–8.
Louis DN, Ohgaki H, Wiestler OD, et al. WHO classification of tumours of the central nervous system. 4th ed. Lyons: IARC; 2007.
Murray JC, Johnson JA, Bird TD. Dandy-Walker malformation: etiologic heterogeneity and empiric recurrence risks. Clin Genet. 1985;28(4):272–83.
Niesen CE. Malformations of the posterior fossa: current perspectives. Semin Pediatr Neurol. 2002;9(4):320–34.
Norman NG, McGillwray BC, Kalousek DK, et al. Congenital malformations of the brain. New York: Oxford University Press; 1995.
Parisi MS, Dobyns WB. Human malformations of the midbrain and hindbrain: review and proposed classification scheme. Mol Genet Metab. 2003;80(1–2):36–53.
Paul LK, Brown WS, Adolphs R, Tyszka JM, Richards LJ, Mukherjee P, et al. Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity. Nat Rev Neurosci. 2007;8(4):287–99.
Roach E, Demyer W, Conneally PM, Palmer C, Merritt AD. Holoprosencephaly: birth data, genetic and demographic analyses of 30 families. Birth Defects Orig Artic Ser. 1975;11(2):294–313.
Schrander-Stumpel C, Fryns JP. Congenital hydrocephalus: nosology and guidelines for clinical approach and genetic counseling. Eur J Pediatr. 1998;157(5):355–62.
Stocker JT, Dehner LP, Husain AN, editors. Stocker and Dehner’s pediatric pathology. 3rd ed. Philadelphia: Lippincott Williams and Wilkins; 2011.
Ullrich NJ, Pomeroy SL. Molecular genetics of pediatric central nervous system tumors. Curr Oncol Rep. 2006;8:423–9.
Váradi V, Tóth Z, Török O, Papp Z. Heterogeneity and recurrence risk for congenital hydrocephalus (ventriculomegaly): a prospective study. Am J Med Genet. 1988;29(2):305–10.
Wiswell TE, Tuttle DJ, Northam RS, Simonds GR. Major congenital neurologic malformations. A 17-year survey. Am J Dis Child. 1990;144(1):61–7.
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Appendix 1: Defects of Closure of the Neural Tube
Appendix 1: Defects of Closure of the Neural Tube
Malformation | Mechanism | Causes | Time | Comments |
---|---|---|---|---|
Craniorachischisistotalis | Total neurulation failure | Multifactorial | 20–22 days gestation | Most cases abort spontaneously, 75 % stillborn |
Anencephaly | Failure of anterior neural tube closure | Multifactorial, genetic and environmental influences | 24 days gestation | |
Myeloschisis | Failure of posterior neural tube closure | Multifactorial | 24 days | Often associated with anomalous formation of skull |
Encephalocele | Disorder of neurulation involving anterior neural tube closure | Multifactorial (genetic [i.e., Meckel syndrome] and environmental [i.e., maternal hyperthermia]) | 26 days gestation | Occipital 70–80 % associated with hydrocephalus, Arnold-Chiari malformations, agenesis of corpus callosum, migration disorders |
Meningomyelocele | Disorder of neurulation involving posterior neural tube closure | Multifactorial (genetic and environmental influences [i.e., folic acid]) | 26–28 days gestation | 80 % lesions occur in lumbar area; commonly associated with hydrocephalus, Arnold-Chiari malformation, and migrational disturbances |
Migrational disorders | ||||
Schizencephaly | Complete agenesis of a portion of the germinative zone | Destructive lesions involving germinative zones and migrational neurons; mutation in homeobox EMX2, cytomegalovirus | Beginning of migrational events (third month of gestation) | Neurodevelopmental disorders: Motor 77–86 % |
seizures 60–72 % | ||||
cognitive 24–100 % | ||||
Lissencephaly: Pachygyria type I | Diffuse cellular layer contains neurons that never arrived at their final destination | Isolated (linked to chromosome 17 or X-chromosome [e.g., Miller-Dieker syndrome]) | No later than the third or fourth month of gestation | Normocephalic and hypotonia at birth, later hypertonia, seizures (commonly infantile spasms, Lennox-Gastaut syndrome) |
Lissencephaly type II | Autosomal recessive (deficiency in merosin laminin α-2, and other proteins) | Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama congenital muscular dystrophy | Third to fourth month of gestation | Macrocephaly; retinal malformation, congenital muscular dystrophy, cerebellar malformations |
Polymicrogyria (layered) | Probably postmigrational – “classic” related to a destructive process; postnatal evolution in preterm babies | Vascular lesions, e.g., laminar neuronal necrosis; infections, e.g., cytomegalovirus, toxoplasmosis | Postmigrational, 20–24 weeks of gestation and beyond | Associated with postnatal hypoxic events. Focal lesions are associated with seizures and learning disabilities |
Disorders of neuronal proliferation | ||||
Microcephaly vera | Normal number of cortical neurons, but neuronal complement of each column is decreased | Genetic; teratogenic (irradiation, alcohol, cocaine, infections); sporadic | Approximately 18 weeks of gestation | Mental retardation, seizures |
Radial microbrain | Disturbance in the number of proliferative units (reduction in the number but normal number of cells per unit) | Genetic autosomal recessive | Second month of gestation | Die in first months of life |
Macrocephaly | Prolongation of time of cell proliferation or excessive rate of proliferation | Sporadic, isolated familiar (autosomal dominant or recessive); associated with growth disturbances (cerebral gigantism, Beckwith syndrome) | During third to fourth month of gestation | Isolated familiar cases without neurologic deficits, other clinical manifestations depending on etiology |
Neurocutaneous syndromes (neurofibromatosis, tuberous sclerosis, Sturge-Weber) | ||||
Hemi-megalencephaly | Focal disorder of cell proliferation also affecting neuronal migration and organization | Sporadic, linear nevus sebaceous syndrome | Third to fourth month of gestation | Severe seizure disorder usually in neonatal period; severe developmental delay |
Disturbance in neuronal myelinization | ||||
Cerebral white matter hypoplasia | Marked deficiency in cerebral white matter, most conspicuous in centrum ovale | Unknown | Third trimester and postnatal life | Nonprogressive clinical syndrome of spastic quadriparesis, seizures, and cognitive deficits |
Amino and organic acidopathies | Vacuolization of white matter that evolves into deficient myelinization | Phenylketonuria, homocystinuria, maple syrup urine disease, nonketotic hyperglycinemia | Third trimester of pregnancy and postnatal life | Alternations in organizational processes are also present in these disorders |
Hypothyroidism | Alterations in oligodendroglial proliferation-differentiation and myelinization | Deficiency in thyroxine and tyrosine | First 2 years of life | Amount of thyroxine and tyrosine in first 2 years of life is correlated with intellectual outcome |
Undernutrition | Reduction of 20–30 % in cerebrosides and 15–20 % in plasmalogens | Poor feeding in the first months and years of life | From birth | Severe undernutrition to 4 months of age results in a permanent reduction in IQ |
Normal myelin composition | ||||
Prematurity | Sequelae of periventricular leukomalacia or other insult associated with prematurity | Hypomyelinization, loss and destruction of oligodendrocytes | Third trimester and postnatal | Quantitative volumetric MRI has delineated the decrease of myelin in preterm babies |
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Gilbert-Barness, E., Spicer, D.E., Steffensen, T.S. (2014). Central Nervous System (CNS). In: Handbook of Pediatric Autopsy Pathology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6711-3_14
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DOI: https://doi.org/10.1007/978-1-4614-6711-3_14
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