Book contents
- Frontmatter
- Contents
- List of contributors
- Foreword
- Preface
- Section 1 Epidemiology, pathophysiology, and pathogenesis of fetal and neonatal brain injury
- Section 2 Pregnancy, labor, and delivery complications causing brain injury
- Section 3 Diagnosis of the infant with brain injury
- Section 4 Specific conditions associated with fetal and neonatal brain injury
- 22 Congenital malformations of the brain
- 23 Neurogenetic disorders of the brain
- 24 Hemorrhagic lesions of the central nervous system
- 25 Neonatal stroke
- 26 Hypoglycemia in the neonate
- 27 Hyperbilirubinemia and kernicterus
- 28 Polycythemia and fetal–maternal bleeding
- 29 Hydrops fetalis
- 30 Bacterial sepsis in the neonate
- 31 Neonatal bacterial meningitis
- 32 Neurological sequelae of congenital perinatal infection
- 33 Perinatal human immunodeficiency virus infection
- 34 Inborn errors of metabolism with features of hypoxic–ischemic encephalopathy
- 35 Acidosis and alkalosis
- 36 Meconium staining and the meconium aspiration syndrome
- 37 Persistent pulmonary hypertension of the newborn
- 38 Pediatric cardiac surgery: relevance to fetal and neonatal brain injury
- Section 5 Management of the depressed or neurologically dysfunctional neonate
- Section 6 Assessing outcome of the brain-injured infant
- Index
- Plate section
- References
22 - Congenital malformations of the brain
from Section 4 - Specific conditions associated with fetal and neonatal brain injury
Published online by Cambridge University Press: 12 January 2010
Book contents
- Frontmatter
- Contents
- List of contributors
- Foreword
- Preface
- Section 1 Epidemiology, pathophysiology, and pathogenesis of fetal and neonatal brain injury
- Section 2 Pregnancy, labor, and delivery complications causing brain injury
- Section 3 Diagnosis of the infant with brain injury
- Section 4 Specific conditions associated with fetal and neonatal brain injury
- 22 Congenital malformations of the brain
- 23 Neurogenetic disorders of the brain
- 24 Hemorrhagic lesions of the central nervous system
- 25 Neonatal stroke
- 26 Hypoglycemia in the neonate
- 27 Hyperbilirubinemia and kernicterus
- 28 Polycythemia and fetal–maternal bleeding
- 29 Hydrops fetalis
- 30 Bacterial sepsis in the neonate
- 31 Neonatal bacterial meningitis
- 32 Neurological sequelae of congenital perinatal infection
- 33 Perinatal human immunodeficiency virus infection
- 34 Inborn errors of metabolism with features of hypoxic–ischemic encephalopathy
- 35 Acidosis and alkalosis
- 36 Meconium staining and the meconium aspiration syndrome
- 37 Persistent pulmonary hypertension of the newborn
- 38 Pediatric cardiac surgery: relevance to fetal and neonatal brain injury
- Section 5 Management of the depressed or neurologically dysfunctional neonate
- Section 6 Assessing outcome of the brain-injured infant
- Index
- Plate section
- References
Summary
Introduction
This chapter focuses on some of the more common brain malformations that are encountered early in life. Tremendous advances in neuroimaging with MRI in the past two decades have significantly improved our ability to diagnose brain malformations. In conjunction, there have been rapid advances in neurobiology that have led to better understanding of how the brain develops and what disturbances to the development lead to malformation. Each year more and more genes responsible for malformations are being discovered. Furthermore, modern fetal ultrasonography and more recently fetal MRI have increased the ability to detect a large variety of central nervous system malformations in utero. Prenatal detection and anatomic diagnosis of the malformations will better allow the medical caregivers to provide prognosis and management counseling.
Normal brain development
A brief overview of normal embryonic and fetal brain development will help to clarify the timing and etiology of brain malformations. Normal human brain development occurs in a highly defined spatial and temporal sequence of events in utero (Table 22.1). The temporal sequence consists of several overlapping phases. During the induction phase, signals sent to the ectoderm cause it to develop into neural tissue. The neural plate, a sheet of cells that will ultimately develop into the nervous system, develops by the 17th to 20th day of gestation. Neurulation occurs next, where the neural plate begins to fold into the neural tube, a process that begins by the 21st day.
- Type
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- Information
- Fetal and Neonatal Brain Injury , pp. 265 - 276Publisher: Cambridge University PressPrint publication year: 2009
References
, , . Epidemiology and Control of Neural Tube Defects. Oxford: Oxford University Press, 1992.Google Scholar
, , . Mental Retardation and Congenital Malformations of the Central Nervous System. Chicago, IL: Yearbook, 1981.Google Scholar
. Towards a greater understanding of the pathogenesis of holoprosencephaly. Brain Dev 1999; 21: 513–21.CrossRefGoogle ScholarPubMed
, . Holoprosencephaly in human embryos: epidemiologic studies of 150 cases. Teratology 1977; 16: 261–72.CrossRefGoogle ScholarPubMed
. Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities. Am J Med Genet 1989; 34: 271–88.CrossRefGoogle ScholarPubMed
, , . Holoprosencephaly: epidemiologic and clinical characteristics of a California population. Am J Med Genet 1996; 64: 465–72.3.0.CO;2-O>CrossRefGoogle ScholarPubMed
, , , et al. Descriptive epidemiology of holoprosencephaly and arhinencephaly in metropolitan Atlanta, 1968–1992. Am J Med Genet 1996; 66: 320–33.3.0.CO;2-O>CrossRefGoogle Scholar
, , . Investigation of the epidemiology and prenatal diagnosis of holoprosencephaly in the North of England. Am J Obstet Gynecol 2001; 184: 1256–62.CrossRefGoogle ScholarPubMed
, . Middle interhemispheric fusion: an unusual variant of holoprosencephaly. AJNR Am J Neuroradiol 1993; 14: 431–40.Google ScholarPubMed
, , , et al. The middle interhemispheric variant of holoprosencephaly. AJNR Am J Neuroradiol 2002; 23: 151–5.Google ScholarPubMed
, , , et al. Neuroanatomy of holoprosencephaly as predictor of function: beyond the face predicting the brain. Neurology 2002; 59: 1058–66.CrossRefGoogle Scholar
, . Holoprosencephaly survival and performance. Am J Med Genet 1999; 89: 116–20.3.0.CO;2-4>CrossRefGoogle ScholarPubMed
, , , et al. Middle interhemispheric variant of holoprosencephaly: a distinct cliniconeuroradiologic subtype. Neurology 2002; 59: 1860–5.CrossRefGoogle ScholarPubMed
. Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome. J Med Genet 1968; 5: 227–52.CrossRefGoogle ScholarPubMed
, , , et al. Epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New York State, 1984–1989. Am J Med Genet 1997; 73: 217–26.3.0.CO;2-S>CrossRefGoogle ScholarPubMed
, . Multiple hits during early embryonic development: digenic diseases and holoprosencephaly. Am J Hum Genet 2002; 71: 1017–32.CrossRefGoogle ScholarPubMed
, , , et al. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet 1996; 14: 357–60.CrossRefGoogle ScholarPubMed
, , , et al. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum Genet 2002; 110: 297–301.CrossRefGoogle ScholarPubMed
, , , et al. Holoprosencephaly in infants of diabetic mothers. J Pediatr 1983; 102: 565–8.CrossRefGoogle ScholarPubMed
, , , et al. Differential diagnosis in fetuses with absent septum pellucidum. Ultrasound Obstet Gynecol 2005; 25: 42–9.CrossRefGoogle ScholarPubMed
, . Genetic defects of human brain development. Curr Neurol Neurosci Rep 2006; 6: 437–46.CrossRefGoogle ScholarPubMed
, , , et al. Hemimegalencephaly: clinical implications and surgical treatment. Childs Nerv Syst 2006; 22: 852–66.CrossRefGoogle ScholarPubMed
, , . Congenital abnormalities of the central nervous system. J Neurol Neurosurg Psychiatry 2003; 74: i3–8.CrossRefGoogle ScholarPubMed
, , , et al. A developmental and genetic classification for malformations of cortical development. Neurology 2005; 65: 1873–87.CrossRefGoogle ScholarPubMed
, . Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly. Trends Genet 2007; 23: 623–30.CrossRefGoogle ScholarPubMed
, , , et al. Fetal magnetic resonance imaging in the evaluation of fetuses referred for sonographically suspected abnormalities of the corpus callosum. J Ultrasound Med 2005; 24: 791–804.CrossRefGoogle ScholarPubMed
, , . Mechanisms regulating the development of the corpus callosum and its agenesis in mouse and human. Clin Genet 2004; 66: 276–89.CrossRefGoogle ScholarPubMed
, , , et al. Magnetic resonance imaging and the detection of fetal brain anomalies, injury, and physiologic adaptations. Curr Opin Obstet Gynecol 2006; 18: 164–76.CrossRefGoogle ScholarPubMed
. Pediatric Neuroimaging. 3rd edn. Philadelphia, PA: Lippincott Williams & Wilkins, 2000.Google Scholar
, , , et al. Familial schizencephaly: further delineation of a rare disorder. J Med Genet 1995; 32: 242–4.CrossRefGoogle ScholarPubMed
, , , et al. Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nat Genet 1996; 12: 94–6.CrossRefGoogle ScholarPubMed
, , , et al. MRI of the fetal posterior fossa. Pediatr Radiol 2005; 35: 124–40.CrossRefGoogle ScholarPubMed
, , , et al. Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy–Walker malformation. Nat Genet 2004; 36: 1053–5.CrossRefGoogle ScholarPubMed
, , , et al. The sonographic diagnosis of Dandy–Walker and Dandy–Walker variant: associated findings and outcomes. Prenat Diagn 2000; 20: 328–32.3.0.CO;2-O>CrossRefGoogle ScholarPubMed
, . Genetic basis of Joubert syndrome and related disorders of cerebellar development. Hum Mol Genet 2005; 14: R235–42.CrossRefGoogle ScholarPubMed
, , , et al. Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus. J Neurosurg 2006; 105: 403–12.Google ScholarPubMed
, , , et al. Vein of Galen aneurysmal malformations. Neuroimaging Clin N Am 2007; 17: 189–206.CrossRefGoogle ScholarPubMed
, . Magnetic resonance imaging of the fetal brain and spine: an increasingly important tool in prenatal diagnosis, part 1. AJNR Am J Neuroradiol 2006; 27: 1604–11.Google ScholarPubMed
, . Magnetic resonance imaging of the fetal brain and spine: an increasingly important tool in prenatal diagnosis: part 2. AJNR Am J Neuroradiol 2006; 27: 1807–14.Google ScholarPubMed