Abstract
Congenital anomalies of the central nervous system are caused by derangement of normal development. They are common causes of developmental delay, seizures, or various neurological abnormalities. Imaging has become essential in the diagnosis of congenital anomalies of the brain and spinal cord. Knowledge of the normal development of the central nervous system is very important crucial? to understand and recognize congenital anomalies. The embryologic development of the central nervous system is briefly summarized, and the important or interesting diseases of the brain and spinal cord anomalies are discussed according to the developmental processes with representative images and the imaging findings.
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References
Adachi Y, Poduri A, Kawaguchi A, et al. Congenital microcephaly with a simplified gyral pattern: associated findings and their significance. AJNR Am J Neuroradiol. 2011;32:1123–9.
Altman NR, Naidich TP, Braffman BH. Posterior fossa malformation. AJNR Am J Neuroradiol. 1992;13:691–724.
Barkovich AJ. Congenital malformations of the brain and skull, the phakomatosis. In: Pediatric neuroimaging. 5th ed. Philadelphia: Lippincott Williams & Wilkins; 2012a. p. 367–636.
Barkovich AJ. Congenital anomalies of the spine. In: Pediatric neuroimaging. 5th ed. Philadelphia: Lippincott Williams & Wilkins; 2012b. p. 857–922.
Barkovich AJ, Kjos BO. Nonlissencephalic cortical dysplasias: correlation of imaging findings with clinical deficits. ANJR Am J Neuroradiol. 1992a;13:95–103.
Barkovich AJ, Kjos BO. Schizencephaly: correlation of clinical findings with MR characteristics. AJNR Am J Neuroradiol. 1992b;13:85–94.
Barkovich AJ, Fram EK, Norman D. Septo-optic dysplasia: MR imaging. Radiology. 1989a;171:189–92.
Barkovich AJ, Jackson Jr DE, Boyer RS. Band heterotopias: a newly recognized neuronal migration anomaly. Radiol. 1989b;171:455–8.
Barkovich AJ, Gressens P, Evrard P. Formation, maturation, and disorders of brain neocortex. AJNR Am J Neuroradiol. 1992;13:423–46.
Benedikt RA, Brown DC, Ghaed VN, et al. Sturge-Weber syndrome: cranial MR imaging with Gd-DTPA. AJNR Am J Neuroradiol. 1993;14:409–15.
Bittencourt F, Marghoob A, Kopf A, Koenig K, Bart R. Large congenital melanocytic nevi and the risk for development of malignant melanoma and neurocutaneous melanocytosis. Pediatrics. 2000;206:736–41.
Braffman BH, Bilaniuk LT, Naidich TP, et al. MR imaging of tuberous sclerosis: pathogenesis of this phakomatosis. Use of gadopentetate dimeglumine, and literature review. Radiology. 1992;183:227–38.
Dias MS. Normal and abnormal development of the spine. Neurosurg Clin N Am. 2007;18:415–29.
Georgy BA, Hesselink JR, Jernigan TL. MR imaging of the corpus callosum. AJR Am J Roentgenol. 1993;160:949–55.
Guerrini R, Martini C. Genetic malformations of cortical development. Exp Brain Res. 2006;173:322–33.
Hendrick EB, Hoffman HJ, Humphreys RP. The tethered spinal cord. Clin Neurosurg. 1983;30:457–63.
Hennel SJ, Fkert PG, Volpe JJ, Inder TE. Insights into the pathogenesis of cerebral lesions in incontinentia pigmenti. Pediatr Neurol. 2003;29:148–50.
Hetts SW, Sherr EH, Chao S, Gobuty S, Barkovich AJ. Anomalies of the corpus callosum: an MR analysis of the phenotypic spectrum of associated malformations. AJR Am J Roentgenol. 2006;187:1343–8.
Kendall B, Kingsley D, Lambert SR, et al. Joubert syndrome: a clinico-radiological study. Neuroradiol. 1990;31:502–6.
McLone DG, Knepper PA. The cause of Chiari II malformation: a unified theory. Pediatr Neurosci. 1989;15:1–12.
McLone DG, Naidich TP. Developmental morphology for the subarachnoid space, brain vasculature, and contiguous structures, and the cause of the Chiari II malformation. AJNR Am J Neuroradiol. 1992;13:463–82.
Mentzel H-J, Seidel J, Fitzek C, et al. Pediatric brain MRI in neurofibromatosis type 1. Eur Radiol. 2005;15:814–22.
Naidich TP, Fernbach SK, McLone DG, Shlonik A. John Caffey Award. Sonography of the caudal spine and back: congenital anomalies in children. AJNR Am J Neuroradiol. 1984;5:221–34.
Naidich TP, Altman NR, Braffman BH, et al. Cephaloceles and related malformations. AJNR Am J Neuroradiol. 1992;13:655–90.
Neyn SM. Ataxia-telangiectasia, cancer, and pathobiology of the ATM gene. Clin Genet. 1999;55:289–304.
Nievelstein RAJ, Valk J, Smit LME, Vermeij-Keers C. MR of the caudal regression syndrome: embryologic implications. AJNR Am J Neuroradiol. 1994;15:1021–209.
Nunes F, MacCollin M. Neurofibromatosis 2 in the pediatric population. J Child Neurol. 2003;18:718–24.
Pang D, Zovickian J, Oviedo A, Moes GS. Limited dorsal myeloschisis: a distinctive clinicopathological entity. Neurosurgery. 2010;67:1555–80.
Parisi MA, Dobyns WB. Human malformations of the midbrain and hindbrain: review and proposed classification scheme. Mol Genet Metab. 2003;80:36–53.
Rufener SL, Ibrahim M, Raybaud CA, Parmar H. Congenital spine and spinal cord malformations – pictorial review. AJR Am J Roentgenol. 2010;194:S26–37.
Seidenwurm DJ, Barkovich AJ. Understanding tuberous sclerosis. Radiology. 1992;183:23–4.
Sinha S, argarwal D, Mahapatra AK. Split cord malformations: an experience of 203 cases. Childs Nerv Syst. 2006;22:3–7.
Slater A, Moore N, Huson S. The natural history of cerebellar hemangioblastomas in von Hippel-Lindau disease. AJNR Am J Neuroradiol. 2003;24:1570–4.
Smirniotopuoulos JG, Murphy FM. The phakomatoses. AJNR Am J Neuroradiol. 1992;13:725–46.
Tassi L, Colombo N, Garbelli R, et al. Focal cortical dysplasia: neuropathological subtypes, EEG, neuroimaging and surgical outcome. Brain. 2002;125:1719–32.
Zimmerman RA, Yachnis AT, Rorke CB, et al. Pathology of findings of cerebral high signal intensity in two patients with type 1 neurofibromatosis. Radiology. 1992;185(Suppl):123.
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Kim, IO. (2014). Congenital Anomalies of the Brain and Spinal Cord. In: Kim, IO. (eds) Radiology Illustrated: Pediatric Radiology. Radiology Illustrated. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-35573-8_1
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DOI: https://doi.org/10.1007/978-3-642-35573-8_1
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