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Pediatric Neuroradiology pp 71–198Cite as

Brain Malformations

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Abstract

Brain malformations are extremely polymorphous, and individual cases very often escape rigid categorization. Moreover, several malformations are frequently associated with one another in individual patients, and many are comprised within complex multiorgan syndromes. Although some believe that a purely descriptive diagnostic approach is advantageous [1], classifications are useful to practicing clinicians to make sense of what they see and to approach their patients on the basis of a logical framework. Neuroradiologists have a wellknown propensity for classifications, basically because MRI has proved to be a very powerful and effective tool to attempt radiologic-pathologic correlations. However, classification schemes are continuously challenged by new advances in the understanding of the pathologies they attempt to describe. This has been the case with many disease processes involving the central nervous system (CNS), and especially with brain malformations. Knowledge of the basic molecular and genetic processes that direct normal brain development and, when deranged, result in congenital abnormalities has literally boomed in the past decade.

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References

  1. Norman MG, McGillivray BC, Kalousek DK, Hill A, Poskitt KJ. Congenital Malformations of the Brain. Pathological, Embryological, Clinical, Radiological and Genetic Aspects. New York: Oxford University Press, 1995.

    Google Scholar 

  2. van der Knaap MS, Valk J. Classification of congenital abnormalities of the CNS. AJNR Am J Neuroradiol 1988; 9:315–326.

    PubMed  Google Scholar 

  3. Sarnat HB. Molecular genetic classification of central nervous system malformations. J Child Neurol 2000; 15:675–687.

    Article  CAS  PubMed  Google Scholar 

  4. Sarnat HB, Flores-Sarnat L. A new classification of malformations of the nervous system: an integration of morphological and molecular genetic criteria as patterns of genetic expression. Eur J Paediatr Neurol 2001; 5:57–64.

    Article  CAS  PubMed  Google Scholar 

  5. Patel S, Barkovich AJ. Analysis and classification of cerebellar malformations. AJNR Am J Neuroradiol 2002; 23:1074–1087.

    PubMed  Google Scholar 

  6. Galatioto S, Longo M, Tortori-Donati P. Embriologia dell’encefalo, teratologia e classificazione delle malformazioni del sistema nervoso centrale. In: Tortori-Donati P, Taccone A, Longo M (eds) Malformazioni cranio-encefaliche. Neuroradiologia. Turin: Minerva Medica, 1996:3–21.

    Google Scholar 

  7. Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB. Classification system for malformations of cortical development — Update 2001. Neurology 2001; 57:2168–2178.

    CAS  PubMed  Google Scholar 

  8. Tsuruda JS, Chew WM, Moseley ME, Norman D. Diffusion-weighted MR imaging of the brain: value of differentiating between extraaxial cysts and epidermoid tumors. AJNR Am J Neuroradiol 1990; 11:925–931.

    CAS  PubMed  Google Scholar 

  9. Sarnat HB. Cerebral Dysgenesis. Embryology and Clinical Expression. New York: Oxford University Press, 1992.

    Google Scholar 

  10. Naidich TP, Altman NR, Braffman BH, McLone DG, Zimmerman RA. Cephaloceles and related malformations. AJNR Am J Neuroradiol 1992; 13:655–690.

    CAS  PubMed  Google Scholar 

  11. Bernardi B, Fonda C. Cefaloceli. Rivista di Neuroradiologia 1994; 7:171–186.

    Google Scholar 

  12. Simpson DA, David DJ, White J. Cephaloceles: treatment, outcome and antenatal diagnosis. Neurosurgery 1984; 15:14–21.

    Article  CAS  PubMed  Google Scholar 

  13. Menkes JH, Till K. Malformations of the central nervous system. In: Menkes JH (ed) Textbook of Child Neurology, 5th edn. Baltimore: Williams & Wilkins, 1995:240–324.

    Google Scholar 

  14. Van Allen MI, Kalousek DK, Chernoff GF, Juriloff D, Harris M, McGillivray BC, Yong SL, Langlois S, MacLeod PM, Chitayat D, Friedman JM, Wilson RD, McFadden D, Pantzar J, Ritchie S, Hall JG. Evidence for multi-site closure of the neural tube in humans. Am J Med Genet 1993; 47:723–743.

    Article  PubMed  Google Scholar 

  15. Campbell LR, Dayton DH, Sohal GS. Neural tube defects: a review of human and animal studies on the etiology of neural tube defects. Teratology 1986; 34:171–187.

    Article  CAS  PubMed  Google Scholar 

  16. Tortori-Donati P, Cama A, Fondelli MP, Rossi A, Taccone A. Cefaloceli. In: Tortori-Donati P, Longo M, Taccone A (eds) Malformazioni cranio-encefaliche. Neuroradiologia. Turin: Minerva Medica, 1996:107–124.

    Google Scholar 

  17. Friede RL. Developmental Neuropathology, 2nd edn. Berlin: Springer, 1989.

    Google Scholar 

  18. Rao AS, Rao VR, Mandalam KR, Gupta AK, Kumar S, Joseph S, Unni M. Corpus callosum lipoma with frontal encephalocele. Neuroradiology 1990; 32:50–52.

    Article  CAS  PubMed  Google Scholar 

  19. Lorber J, Schofield JK. The prognosis of occipital encephalocele. Z Kinderchir 1979; 28:347–351.

    CAS  Google Scholar 

  20. Castillo M, Quencer RM, Dominguez R. Chiari III malformation: imaging features. AJNR Am J Neuroradiol 1992; 13:107–113.

    CAS  PubMed  Google Scholar 

  21. Naidich TP, Braffman BH, Altman N, Birchansky B. Congenital malformations involving the anterior cranial fossa. Rivista di Neuroradiologia 1994; 7:359–376.

    Google Scholar 

  22. Hyson M, Andermann F, Olivier A, Melanson D. Occult encephaloceles and temporal lobe epilepsy: developmental and acquired lesions in the middle fossa. Neurology 1984; 34:363–366.

    CAS  PubMed  Google Scholar 

  23. Tortori-Donati P, Fondelli MP, Rossi A. Anomalie congenite. In: Simonetti G, Del Maschio A, Bartolozzi C, Passariello R (eds) Trattato Italiano di Risonanza Magnetica. Naples: Idelson-Gnocchi, 1998: 155–203.

    Google Scholar 

  24. Barkovich AJ, Vandermarck P, Edwards MS, Cogen PH. Congenital nasal masses: CT and MR imaging features in 16 cases. AJNR Am J Neuroradiol 1991; 12:105–116.

    CAS  PubMed  Google Scholar 

  25. Younus M, Coode PE. Nasal glioma and encephalocele: two separate entities. Report of two cases. J Neurosurg 1986; 64:516–519.

    Article  CAS  PubMed  Google Scholar 

  26. Elster AD, Branch CL Jr. Transalar sphenoidal encephaloceles: clinical and radiologic findings. Radiology 1989; 170:245–247.

    CAS  PubMed  Google Scholar 

  27. Levy RA, Wald SL, Aitken PA, Dorwart RH. Bilateral intraorbital meningoencephaloceles and associated midline craniofacial anomalies: MR and three-dimensional CT imaging. AJNR Am J Neuroradiol 1989; 10:1272–1274.

    CAS  PubMed  Google Scholar 

  28. Seibert RW, Seibert JJ, Jimenez JF, Angtuaco EJ. Nasopharyngeal brain heterotopia — a cause of upper airway obstruction in infancy. Laryngoscope 1984; 94:818–819.

    CAS  PubMed  Google Scholar 

  29. Rice JF, Eggers DM. Basal transsphenoidal encephalocele: MR findings. AJNR Am J Neuroradiol 1989; 10(5 Suppl):S79.

    CAS  PubMed  Google Scholar 

  30. Boulanger T, Mathurin P, Dooms G, Lambert M, Smellie S, Cornelis G. Sphenopharyngeal meningoencephalocele: unusual clinical and radiologic features. AJNR Am J Neuroradiol 1989; 10(5 Suppl):S80.

    CAS  PubMed  Google Scholar 

  31. Nager GT. Cephaloceles. Laryngoscope 1987; 97:77–84.

    Article  CAS  PubMed  Google Scholar 

  32. Cohen MM, Lemire RM. Syndromes with cephalocele. Teratology 1982; 25:161–172.

    Article  PubMed  Google Scholar 

  33. Naidich TP, Osborn RE, Bauer B, Naidich MJ. Median cleft face syndrome: MR and CT data from 11 children. J Comput Assist Tomogr 1988; 12:57–64.

    Article  CAS  PubMed  Google Scholar 

  34. Nevin NC, Leonard AG, Jones B. Frontonasal dysostosis in two successive generations. Am J Med Genet 1999; 87:251–253.

    Article  CAS  PubMed  Google Scholar 

  35. Tambwekar S. Internasal dysplasia (craniofacial anomaly). Bombay Hospital Journal 1998; 40(4), article 19.

    Google Scholar 

  36. Lubinsky MS, Kahler SG, Speer IE, Hoyme HE, Kirillova IA, Lurie IW. von Voss-Cherstvoy syndrome: a variable perinatally lethal syndrome of multiple congenital anomalies. Am J Med Genet 1994; 52:272–278.

    Article  CAS  PubMed  Google Scholar 

  37. Bamforth JS, Lin CC. DK phocomelia phenotype (von Voss-Cherstvoy syndrome) caused by somatic mosaicism for del(13q). Am J Med Genet 1997; 73:408–411.

    Article  CAS  PubMed  Google Scholar 

  38. Dobyns WB, Pagon RA, Armstrong D, Curry CJ, Greenberg F, Grix A, Holmes LB, Laxova R, Michels VV, Robinow M, et al. Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet 1989; 32:195–210.

    Article  CAS  PubMed  Google Scholar 

  39. Naidich TP, Braffman BH, Altman NR, Birchansky SB. Malformations of the posterior fossa and craniovertebral junction. Rivista di Neuroradiologia 1994; 7:423–439.

    Google Scholar 

  40. Erdincler P, Kaynar MY, Canbaz B, Kocer N, Kuday C, Ciplak N. Iniencephaly: neuroradiological and surgical features. Case report and review of the literature. J Neurosurg 1998; 89:317–320.

    Article  CAS  PubMed  Google Scholar 

  41. Nyberg DA, Mahomy BS, Pretorius DH. Diagnostic ultrasound of fetal anomalies-Text and atlas. Littleton (MA): Year Book Medical Publishers, Inc., 1990:146.

    Google Scholar 

  42. Salonen R, Norio R. The Meckel syndrome: clinicopathological findings in 67 patients. Am J Med Genet 1984; 18:671–689.

    Article  CAS  PubMed  Google Scholar 

  43. Nyberg DA, Hallesy D, Mahony BS, Hirsch JH, Luthy DA, Hickok D. Meckel-Gruber syndrome; importance of prenatal diagnosis. J Ultrasound Med 1990; 9:691–696.

    CAS  PubMed  Google Scholar 

  44. Paavola P, Salonen R, Weissenbach J, Peltonen L. The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21–q24. Nat Genet 1995; 11:213–215.

    Article  CAS  PubMed  Google Scholar 

  45. Knobloch WH, Layer JM. Clefting syndromes associated with retinal detachment. Am J Ophthalmol 1972; 73:517–530.

    CAS  PubMed  Google Scholar 

  46. Seaver LH, Joffe L, Spark RP, Smith BL, Hoyme HE. Congenital scalp defects and vitreoretinal degeneration: redefining the Knobloch syndrome. Am J Med Genet 1993; 46:203–208.

    Article  CAS  PubMed  Google Scholar 

  47. Handmaker SD, Campbell JA, Robinson LD, Chinwah O, Gorlin RJ. Dyssegmental dwarfism: a new syndrome of lethal dwarfism. Birth Defects Orig Artic Ser 1977; 13(3D):79–90.

    CAS  PubMed  Google Scholar 

  48. Goldhammer Y, Smith JL. Cryptophthalmos syndrome with basal encephaloceles. Am J Ophthalmol 1975; 80:146–149.

    CAS  PubMed  Google Scholar 

  49. Nguyen VD, Tyrrel R. Klippel-Feil syndrome: patterns of bony fusion and wasp-waist sign. Skeletal Radiol 1993; 22:519–523.

    CAS  PubMed  Google Scholar 

  50. Ulmer JL, Elster AD, Ginsberg LE, Williams DW III. Klippel-Feil syndrome: CT and MR of acquired and congenital abnormalities of cervical spine and cord. J Comput Assist Tomogr 1993; 17:215–224.

    Article  CAS  PubMed  Google Scholar 

  51. Van Den Berg DJ, Francke U. Roberts syndrome: a review of 100 cases and a new rating system for severity. Am J Med Genet 1993; 47:1104–1123.

    Article  Google Scholar 

  52. Aleksic S, Budzilovich G, Greco MA, Epstein F, Feigin I, Pearson J. Encephalocele (cerebellocele) in the Goldenhar-Gorlin syndrome. Eur J Pediatr 1983; 140:137–138.

    Article  CAS  PubMed  Google Scholar 

  53. Gustavson EE, Chen H. Goldenhar syndrome, anterior encephalocele, and aqueductal stenosis following fetal primidone exposure. Teratology 1985; 32:13–17.

    Article  CAS  PubMed  Google Scholar 

  54. Moerman P, Fryns JP, Vandenberghe K, Lauweryns JM. Constrictive amniotic bands, amniotic adhesions, and limb-body wall complex: discrete disruption sequences with pathogenetic overlap. Am J Med Genet 1992; 42:470–479.

    Article  CAS  PubMed  Google Scholar 

  55. Yakovlev PI. Pathoarchitectonic studies of cerebral malformations. III. Arrhinencephalies (holotelencephalies). J Neuropathol Exp Neurol 1959; 18:22–55.

    Article  CAS  PubMed  Google Scholar 

  56. Roessler E, Muenke M. The molecular genetics of holoprosencephaly: a model of brain development for the next century. Child’s Nerv Syst 1999; 15:646–651.

    Article  CAS  Google Scholar 

  57. 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; 11:294–313.

    CAS  PubMed  Google Scholar 

  58. Matsunaga E, Shiota K. Holoprosencephaly in human embryos: epidemiologic studies of 150 cases. Teratology 1977; 16:261–272

    Article  CAS  PubMed  Google Scholar 

  59. Moog U, De Die-Smulders CE, Schrander-Stumpel CT, Engelen JJ, Hamers AJ, Frints S, Fryns JP. Holoprosencephaly: the Maastricht experience. Genet Couns 2001; 12:287–298

    CAS  PubMed  Google Scholar 

  60. DeMyer WE, Zeman W. Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: clinical, electroencephalographic, and nosologic considerations. Confin Neurol 1963; 23:1–36.

    Article  CAS  PubMed  Google Scholar 

  61. Simon EM, Barkovich AJ. Holoprosencephaly: new concepts. Magn Reson Imaging Clin N Am 2001; 9:149–164.

    CAS  PubMed  Google Scholar 

  62. Tortori-Donati P, Rossi A. Congenital malformations in the neonate. In: Rutherford M (ed) MRI of the neonatal brain. London: Saunders, 2002:225–249.

    Google Scholar 

  63. Barkovich AJ, Quint DJ. Middle interhemispheric fusion: an unusual variant of holoprosencephaly. AJNR Am J Neuroradiol 1993; 14:431–440.

    CAS  PubMed  Google Scholar 

  64. Kalter H. Case reports of malformations associated with maternal diabetes: history and critique. Clin Genet 1993; 43:174–179.

    CAS  PubMed  Google Scholar 

  65. Wallis D, Muenke M. Mutations in holoprosencephaly. Hum Mutat 2000; 16:99–108.

    Article  CAS  PubMed  Google Scholar 

  66. Simon EM, Hevner R, Pinter JD, Clegg NJ, Miller VS, Kinsman SL, Hahn JS, Barkovich AJ. Assessment of the deep gray nuclei in holoprosencephaly. AJNR Am J Neuroradiol 2000; 21:1955–1961.

    CAS  PubMed  Google Scholar 

  67. Barkovich AJ. Magnetic resonance imaging: role in the understanding of cerebral malformations. Brain Dev 2002; 24:2–12.

    Article  PubMed  Google Scholar 

  68. Chen CP, Shih SL, Liu FF, Jan SW. Cebocephaly, alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth. J Med Genet 1997; 34:252–255.

    Article  CAS  PubMed  Google Scholar 

  69. Nowaczyk MJ, Huggins MJ, Tomkins DJ, Rossi E, Ramsay JA, Woulfe J, Scherer SW, Belloni E. Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency. Clin Genet 2000; 57:388–393.

    Article  CAS  PubMed  Google Scholar 

  70. Le Douarin NM, Halpern ME. Discussion point. Origin and specification of the neural tube floor plate: insights from the chick and zebrafish. Curr Opin Neurobiol 2000; 10:23–30.

    Article  PubMed  Google Scholar 

  71. Castillo M, Bouldin TW, Scatliff JH, Suzuki K. Radiologicpathologic correlation. Alobar holoprosencephaly. AJNR Am J Neuroradiol 1993; 14:1151–1156.

    CAS  PubMed  Google Scholar 

  72. Liu DP, Burrowes DM, Qureshi MN. Cyclopia: craniofacial appearance on MR and three-dimensional CT. AJNR Am J Neuroradiol 1997; 18:543–546.

    CAS  PubMed  Google Scholar 

  73. Kjaer I, Becktor KB, Lisson J, Gormsen C, Russell BG. Face, palate, and craniofacial morphology in patients with a solitary median maxillary central incisor. Eur J Orthod 2001; 23:63–73.

    Article  CAS  PubMed  Google Scholar 

  74. Osaka K, Tanimura T, Hirayama A, Matsumoto S. Myelomeningocele bifore birth. J Neurosurg 1978; 49:711–724.

    Article  CAS  PubMed  Google Scholar 

  75. Nowaczyk MJ, Farrell SA, Sirkin WL, Velsher L, Krakowiak PA, Waye JS, Porter FD. Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G->C genotype. Am J Med Genet 2001; 103:75–80.

    Article  CAS  PubMed  Google Scholar 

  76. Lapunzina P, Musante G, Pedraza A, Prudent L, Gadow E. Semilobar holoprosencephaly, coronal craniosynostosis, and multiple congenital anomalies: a severe expression of the Genoa syndrome or a newly recognized syndrome? Am J Med Genet 2001; 102:258–260.

    Article  CAS  PubMed  Google Scholar 

  77. Lin AE, Siebert JR, Graham JM Jr. Central nervous system malformations in the CHARGE association. Am J Med Genet 1990; 37:304–310.

    Article  CAS  PubMed  Google Scholar 

  78. Oba H, Barkovich AJ. Holoprosencephaly: an analysis of callosal formation and its relation to development of the interhemispheric fissure. AJNR Am J Neuroradiol 1995; 16:453–460.

    CAS  PubMed  Google Scholar 

  79. Longo M, Blandino A, Taccone A, Tortori-Donati P. Oloprosencefalia, displasia setto-ottica, malformazioni dell’asse ipotalamo-ipofisario. In: Tortori-Donati P, Taccone A, Longo M (eds) Malformazioni cranio-encefaliche. Neuroradiologia. Turin: Minerva Medica, 1996:137–158.

    Google Scholar 

  80. Barkovich AJ, Simon EM, Clegg NJ, Kinsman SL, Hahn JS. Analysis of the cerebral cortex in holoprosencephaly with attention to the sylvian fissures. AJNR Am J Neuroradiol 2002; 23:143–150.

    PubMed  Google Scholar 

  81. Golden JA. Towards a greater understanding of the pathogenesis of holoprosencephaly. Brain Dev 1999; 21:513–521.

    Article  CAS  PubMed  Google Scholar 

  82. Veneselli E, Biancheri R, Di Rocco M, Fondelli MP, Perrone MV, Tortori-Donati P. Unusually prolonged survival and childhoodonset epilepsy in a case of alobar holoprosencephaly. Childs Nerv Syst 1999; 15:274–277.

    Article  CAS  PubMed  Google Scholar 

  83. Simon EM, Hevner RF, Pinter J, Clegg NJ, Delgado M, Kinsman SL, Hahn JS, Barkovich AJ. The dorsal cyst in holoprosencephaly and the role of the thalamus in its formation. Neuroradiology 2001; 43:787–791.

    Article  CAS  PubMed  Google Scholar 

  84. Kobori JA, Kaarsoo-Herrick M, Urich H. Arhinencephaly. The spectrum of associated malformations. Brain 1987; 110:237–260.

    Article  PubMed  Google Scholar 

  85. Sato N, Hatakeyama S, Shimizu N, Hikima A, Aoki J, Endo K. MR evaluation of the hippocampus in patients with congenital malformations of the brain. AJNR Am J Neuroradiol 2001; 22:389–393.

    CAS  PubMed  Google Scholar 

  86. Robin NH, Ko LM, Heeger S, Muise KL, Judge N, Bangert BA. Syntelencephaly in an infant of a diabetic mother. Am J Med Genet 1996; 66:433–437.

    Article  CAS  PubMed  Google Scholar 

  87. Simon EM, Hevner RF, Pinter JD, Clegg NJ, Delgado M, Kinsman SL, Hahn JS, Barkovich AJ. The middle interhemispheric variant of holoprosencephaly. AJNR Am J Neuroradiol 2002; 23:151–156.

    PubMed  Google Scholar 

  88. Fujimoto S, Togari H, Banno T, Wada Y. Syntelencephaly associated with connected transhemispheric cleft of focal cortical dysplasia. Pediatr Neurol 1999; 20:387–389

    Article  CAS  PubMed  Google Scholar 

  89. De Morsier G. études sur les dysraphies cranio-éncephaliques. III. Agénésie du septum lucidum avec malformation du tractus optique. La dysplasie septo-optique. Schweiz Arch Neurol Psychiat 1956; 77:267–292.

    Google Scholar 

  90. Dattani MT, Martinez-Barbera JP, Thomas PQ, Brickman JM, Gupta R, Martensson IL, Toresson H, Fox M, Wales JK, Hindmarsh PC, Krauss S, Beddington RS, Robinson IC. Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nat Genet 1998; 19:125–133.

    Article  CAS  PubMed  Google Scholar 

  91. Lubinsky MS. Hypothesis: septo-optic dysplasia is a vascular disruption sequence. Am J Med Genet 1997; 69:235–236.

    Article  CAS  PubMed  Google Scholar 

  92. McMahon CL, Braddock SR. Septo-optic dysplasia as a manifestation of valproic acid embryopathy. Teratology 2001; 64:83–86.

    Article  CAS  PubMed  Google Scholar 

  93. Barkovich AJ, Fram EK, Norman D. Septo-optic dysplasia: MR imaging. Radiology 1989; 171:189–192.

    CAS  PubMed  Google Scholar 

  94. Miller SP, Shevell MI, Patenaude Y, Poulin C, O’Gorman AM. Septo-optic dysplasia plus: a spectrum of malformations of cortical development. Neurology 2000; 54:1701–1703.

    CAS  PubMed  Google Scholar 

  95. Sener RN. Septo-optic dysplasia (de Morsier’s syndrome) associated with total callosal absence. A new type of the anomaly. J Neuroradiol 1996; 23:79–81.

    CAS  PubMed  Google Scholar 

  96. Sener RN. Septo-optic dysplasia associated with cerebral cortical dysplasia (cortico-septo-optic dysplasia). J Neuroradiol 1996; 23:245–247.

    CAS  PubMed  Google Scholar 

  97. Kallmann FJ, Schoenfeld WA, Barrera SE. The gebeti aspects of primary eunuchoidism. Am J Ment Defic 1944; 48:203–210.

    Google Scholar 

  98. Franco B, Guioli S, Pragliola A, Incerti B, Bardoni B, Tonlorenzi R, Carrozzo R, Maestrini E, Pieretti M, Taillon-Miller P, et al. A gene detected in Kallmann’s sindrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature 1991; 353:529–536.

    Article  CAS  PubMed  Google Scholar 

  99. Legouis R, Hardelin JP, Levilliers J, Claverie JM, Compain S, Wunderle V, Millasseau P, Le Paslier D, Cohen D, Caterina D, et al. The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell 1991; 86:423–435.

    Google Scholar 

  100. Duke VM, Winyard PJ, Thorogood P, Soothill P, Bouloux PM, Woolf AS. KAL, a gene mutated in Kallmann’s syndrome, is expressed in the first trimester of human development. Molec Cell Endocrinol 1995; 110:73–79.

    Article  CAS  PubMed  Google Scholar 

  101. Truwit CL, Barkovich AJ, Grumbach MM, Martini JJ. MR imaging of Kallmann syndrome, a genetic disorder of neuronal migration affecting the olfactory and genital systems. AJNR Am J Neuroradiol 1993; 14:827–838.

    CAS  PubMed  Google Scholar 

  102. Schwanzel-Fukuda M, Bick D, Pfaff DW. Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome. Mod Brain Res 1989; 6:311–326.

    Article  CAS  Google Scholar 

  103. Knorr JR, Ragland RL, Brown RS, Gelber N. Kallmann syndrome: MR findings. AJNR Am J Neuroradiol 1993; 14:845–851.

    CAS  PubMed  Google Scholar 

  104. Yousem DM, Turner WJD, Li C, Snyder PJ, Doty RL. Kallmann syndrome: MR evaluation of olfactory system. AJNR Am J Neuroradiol 1993; 14:839–843.

    CAS  PubMed  Google Scholar 

  105. Barkovich AJ, Kuzniecky RI, Dobyns WB, Jackson GD, Becker LE, Evrard P. A classification scheme for malformations of cortical development. Neuropediatrics 1996; 27:59–63.

    Article  CAS  PubMed  Google Scholar 

  106. Leventer RJ, Phelan EM, Coleman LT, Kean MJ, Jackson GD, Harvey AS. Clinical and imaging features of cortical malformations in childhood. Neurology 1999; 53:715–722.

    CAS  PubMed  Google Scholar 

  107. Montenegro MA, Guerreiro MM, Lopes-Cendes I, Guerreiro CA, Cendes F. Interrelationship of genetics and prenatal injury in the genesis of malformations of cortical development. Arch Neurol 2002; 59:1147–1153.

    Article  PubMed  Google Scholar 

  108. Barkovich AJ, Gressens P, Evrard P. Formation, maturation, and disorders of brain neocortex. AJNR Am J Neuroradiol 1993; 13:423–446.

    Google Scholar 

  109. Raymond AA, Fish DR, Sisodiya SM, Alsanjari N, Stevens JM, Shorvon SD. Abnormalities of gyration, heterotopias, tuberous sclerosis, focal cortical dysplasia, microdysgenesis, dysembryoplastic neuroepithelial tumor and dysgenesis of the archicortex in epilepsy. Clinical, EEG and neuroimaging features in 100 adult patients. Brain 1995; 118:629–660.

    Article  PubMed  Google Scholar 

  110. Hatten ME. Central nervous system neuronal migration. Annu Rev Neurosci 1999; 22:511–539.

    Article  CAS  PubMed  Google Scholar 

  111. Ross ME, Walsh CA. Human brain malformations and their lessons for neuronal migration. Annu Rev Neurosci 2001; 24:1041–1070.

    Article  CAS  PubMed  Google Scholar 

  112. Sarnat HB. Cerebral dysplasias as expressions of altered maturational processes. Can J Neurol Sci 1991; 18:196–204.

    CAS  PubMed  Google Scholar 

  113. Takahashi T, Nowakowski RS, Caviness VS Jr. The mathematics of neocortical neuronogenesis. Dev Neurosci 1997; 19:17–22.

    Article  CAS  PubMed  Google Scholar 

  114. Chan WY, Lorke DE, Tiu SC, Yew DT. Proliferation and apoptosis in the developing human neocortex. Anat Rec 2002; 267:261–276.

    Article  PubMed  Google Scholar 

  115. Rakic P. Specification of cerebral cortical areas. Science 1988; 241:170–176.

    Article  CAS  PubMed  Google Scholar 

  116. Yung SY, Gokhan S, Jurcsak J, Molero AE, Abrajano JJ, Mehler MF. Differential modulation of BMP signaling promotes the elaboration of cerebral cortical GABAergic neurons or oligodendrocytes from a common sonic hedgehog-responsive ventral forebrain progenitor species. Proc Natl Acad Sci U S A 2002; 99:16273–16278.

    Article  CAS  PubMed  Google Scholar 

  117. Corbin JG, Nery S, Fishell G. Telencephalic cells take a tangent: non-radial migration in the mammalian forebrain. Nat Neurosci 2001; 4(Suppl):1177–1182.

    Article  CAS  PubMed  Google Scholar 

  118. Gressens P, Evrard P. The glial fascicle: an ontogenic and phylogenic unit guiding, supplying and distributing mammalian cortical neurons. Brain Res Dev Brain Res 1993; 76:272–277.

    Article  CAS  PubMed  Google Scholar 

  119. Marin-Padilla M. Structural organization of the human cerebral cortex prior to the appearance of the cortical plate. Anat Embryol (Berl) 1983; 168:21–40.

    Article  CAS  PubMed  Google Scholar 

  120. Marin-Padilla M. [The evolution of the structure of the neocortex in mammals: a new theory of cytoarchitecture] Rev Neurol 2001; 33:843–853.

    CAS  PubMed  Google Scholar 

  121. Cobos I, Puelles L, Martinez S. The avian telencephalic subpallium originates inhibitory neurons that invade tangentially the pallium (dorsal ventricular ridge and cortical areas). Dev Biol 2001; 239:30–45.

    Article  CAS  PubMed  Google Scholar 

  122. Misson JP, Austin CP, Takahashi T, Cepko CL, Caviness VS Jr. The alignment of migrating neural cells in relation to the murine neopallial radial glial fiber system. Cereb Cortex 1991; 3:221–229.

    Article  Google Scholar 

  123. Lois C, Garcia-Verdugo JM, Alvarez-Buylla A. Chain migration of neuronal precursors. Science 1996; 271:978–981.

    Article  CAS  PubMed  Google Scholar 

  124. Goldman-Rakic PS. Topography of cognition: parallel distributed networks in primate association cortex. Annu Rev Neurosci 1988; 11:137–156.

    Article  CAS  PubMed  Google Scholar 

  125. Ghosh A, Shatz CJ. A role for subplate neurons in the patterning of connections from thalamus to neocortex. Development 1993; 117:1031–1047.

    CAS  PubMed  Google Scholar 

  126. McConnell SK, Ghosh A, Shatz CJ. Subplate pioneers and the formation of descending connections from cerebral cortex. J Neurosci 1994; 14:1892–1907.

    CAS  PubMed  Google Scholar 

  127. Yelgec S, Ozturk MH, Aydingoz U, Cila A. CT and MRI of microcephalia vera. Neuroradiology 1998; 40:332–334.

    Article  CAS  PubMed  Google Scholar 

  128. Abdel-Salam G, Czeizel AE. The second unrelated case with isolated microcephaly and normal intelligence (microcephalia vera). Clin Dysmorphol 2000; 9:151–152.

    Article  CAS  PubMed  Google Scholar 

  129. Peiffer A, Singh N, Leppert M, Dobyns WB, Carey JC. Microcephaly with simplified gyral pattern in six related children. Am J Med Genet 1999; 84:137–144.

    Article  CAS  PubMed  Google Scholar 

  130. van der Knaap MS, van Wezel-Meijler G, Barth PG, Barkhof F, Ader HJ, Valk J. Normal gyration and sulcation in preterm and term neonates: appearance on MR images. Radiology 1996; 200:389–396.

    PubMed  Google Scholar 

  131. Barkovich AJ, Ferriero DM, Barr RM, Gressens P, Dobyns WB, Truwit CL, Evrard P. Microlissencephaly: a heterogeneous malformation of cortical development. Neuropediatrics 1998; 29:113–119.

    Article  CAS  PubMed  Google Scholar 

  132. Iannetti P, Schwartz CE, Dietz-Band J, Light E, Timmerman J, Chessa L. Norman-Roberts syndrome: clinical and molecular studies. Am J Med Genet 1993; 47:95–99.

    Article  CAS  PubMed  Google Scholar 

  133. Kroon AA, Smit BJ, Barth PG, Hennekam RC. Lissencephaly with extreme cerebral and cerebellar hypoplasia. A magnetic resonance imaging study. Neuropediatrics 1996; 27:273–276.

    Article  CAS  PubMed  Google Scholar 

  134. Ross ME, Swanson K, Dobyns WB. Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. Neuropediatrics 2001; 32:256–263.

    Article  CAS  PubMed  Google Scholar 

  135. DeMyer W. Megalencephaly: types, clinical syndromes, and management. Pediatr Neurol 1986; 2:321–328.

    Article  CAS  PubMed  Google Scholar 

  136. Gooskens RH, Willemse J, Bijlsma JB, Hanlo PW. Megalencephaly: definition and classification. Brain Dev 1988; 10:1–7.

    CAS  PubMed  Google Scholar 

  137. Sotos JF, Dodge PR, Muirhead D, Crawford JD, Talbot NB. Cerebral gigantism in childhood: a syndrome of excessively rapid growth with acromegalic features and a nonprogressive neurologic disorder. New Eng J Med 1964; 271:109–116.

    CAS  PubMed  Google Scholar 

  138. Maroun C, Schmerler S, Hutcheon RG. Child with Sotos phenotype and a 5:15 translocation. Am J Med Genet 1994; 50:291–293.

    Article  CAS  PubMed  Google Scholar 

  139. Douglas J, Hanks S, Temple IK, Davies S, Murray A, Upadhyaya M, Tomkins S, Hughes HE, Cole TR, Rahman N. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. Am J Hum Genet 2003; 72:132–143.

    Article  CAS  PubMed  Google Scholar 

  140. Nance MA, Neglia JP, Talwar D, Berry SA. Neuroblastoma in a patient with Sotos’ syndrome. J Med Genet 1990; 27:130–132.

    Article  CAS  PubMed  Google Scholar 

  141. Gohlich-Ratmann G, Baethmann M, Lorenz P, Gartner J, Goebel HH, Engelbrecht V, Christen HJ, Lenard HG, Voit T. Megalencephaly, mega corpus callosum, and complete lack of motor development: a previously undescribed syndrome. Am J Med Genet 1998; 79:161–167.

    Article  CAS  PubMed  Google Scholar 

  142. Hayashi M, Kurata K, Suzuki K, Hirasawa K, Nagata J, Morimatsu Y. Megalencephaly, hydrocephalus and cortical dysplasia in severe dwarfism mimicking leprechaunism. Acta Neuropathol (Berl) 1998; 95:431–436.

    Article  CAS  PubMed  Google Scholar 

  143. Tortori-Donati P, Fondelli MP, Rossi A, Andreussi L. Sclerosi tuberosa (m. di Bourneville). In: Tortori-Donati P, Taccone A, Longo M (eds) Malformazioni Cranio-Encefaliche. Neuroradiologia. Turin: Minerva Medica, 1996:375–390.

    Google Scholar 

  144. Colombo N, Citterio A, Munari C, Scialfa G. Epilessia. In: Dal Pozzo G (ed) Compendio di Risonanza Magnetica. Cranio e Rachide. Turin: UTET, 2001:657–704.

    Google Scholar 

  145. Barkovich AJ, Kjos BO. Nonlissencephalic cortical dysplasias: correlation of imaging findings with clinical deficits. AJNR Am J Neuroradiol 1992; 13:95–103.

    CAS  PubMed  Google Scholar 

  146. Tassi L, Colombo N, Garbelli R, Francione S, Lo Russo G, Mai R, Cardinale F, Cossu M, Ferrario A, Galli C, Bramerio M, Citterio A, Spreafico R. Focal cortical dysplasia: neuropathological subtypes, EEG, neuroimaging and surgical outcome. Brain 2002; 125:1719–1732.

    Article  CAS  PubMed  Google Scholar 

  147. Colombo N, Tassi L, Galli C, Citterio A, Lo Russo G, Scialfa G, Spreafico R. Focal cortical dysplasias: MR imaging, histopathologic, and clinical correlations in surgically treated patients with epilepsy. AJNR Am J Neuroradiol 2003; 24:724–733.

    PubMed  Google Scholar 

  148. Taylor DC, Falconer MA, Bruton CJ, Corsellis JA. Focal dysplasia of the cerebral cortex in epilepsy. J Neurol Neurosurg Psychiatry 1971; 34:369–387.

    Article  CAS  PubMed  Google Scholar 

  149. Barkovich AJ, Kuzniecky RI, Bollen AW, Grant PE. Focal transmantle dysplasia: a specific malformation of cortical development. Neurology 1997; 49:1148–1152.

    CAS  PubMed  Google Scholar 

  150. Becker AJ, Urbach H, Scheffler B, Baden T, Normann S, Lahl R, Pannek HW, Tuxhorn I, Elger CE, Schramm J, Wiestler OD, Blumcke I. Focal cortical dysplasia of Taylor’s balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis. Ann Neurol 2002; 52:29–37.

    Article  CAS  PubMed  Google Scholar 

  151. Kuzniecky RI. MRI in focal cortical dysplasia. In: Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin BG, Pfanner P (eds) Dysplasias of Cerebral Cortex and Epilepsy. Philadelphia: Lippincott-Raven, 1996:145–150.

    Google Scholar 

  152. Bronen RA, Vives KP, Kim JH, Fulbright RK, Spencer SS, Spencer DD. Focal cortical dysplasia of Taylor, balloon cell subtype: MR differentiation from low-grade tumors. AJNR Am J Neuroradiol 1997; 18:1141–1151.

    CAS  PubMed  Google Scholar 

  153. Palmini A, Gambardella A, Andermann F, Dubeau F, da Costa JC, Olivier A, Tampieri D, Robitaille Y, Paglioli E, Paglioli Neto E, et al. Operative strategies for patients with cortical dysplastic lesions and intractable epilepsy. Epilepsia 1994; 35(Suppl 6):S57–71.

    Article  PubMed  Google Scholar 

  154. Palmini A, Gambardella A, Andermann F, Dubeau F, da Costa JC, Olivier A, Tampieri D, Gloor P, Quesney F, Andermann E, et al. Intrinsic epileptogenicity of human dysplastic cortex as suggested by corticography and surgical results. Ann Neurol 1995; 37:476–487.

    Article  CAS  PubMed  Google Scholar 

  155. Kuzniecky R, Ho SS, Martin R, Faught E, Morawetz R, Palmer C, Gilliam F. Temporal lobe developmental malformations and hippocampal sclerosis. Epilepsy surgery outcome. Neurology 1999; 52:479–484.

    CAS  PubMed  Google Scholar 

  156. Urbach H, Scheffler B, Heinrichsmeier T, von Oertzen J, Kral T, Wellmer J, Schramm J, Wiestler OD, Blumcke I. Focal cortical dysplasia of Taylor’s balloon cell type: a clinicopathological entity with characteristic neuroimaging and histopathological features, and favorable postsurgical outcome. Epilepsia 2002; 43:33–40.

    Article  PubMed  Google Scholar 

  157. Montenegro MA, Li LM, Guerreiro MM, Guerreiro CA, Cendes F. Focal cortical dysplasia: improving diagnosis and localization with magnetic resonance imaging multiplanar and curvilinear reconstruction. J Neuroimaging 2002; 12:224–230.

    PubMed  Google Scholar 

  158. Barkovich AJ, Rowley HA, Andermann F. MR in partial epilepsy: value of high-resolution volumetric techniques. AJNR Am J Neuroradiol 1995; 16:339–343.

    CAS  PubMed  Google Scholar 

  159. Grant PE, Barkovich AJ, Wald LL, Dillon WP, Laxer KD, Vigneron DB. High-resolution surface-coil MR of cortical lesions in medically refractory epilepsy: a prospective study. AJNR Am J Neuroradiol 1997; 18:291–301.

    CAS  PubMed  Google Scholar 

  160. Chan S, Chin SS, Nordli DR, Goodman RR, DeLaPaz RL, Pedley TA. Prospective magnetic resonance imaging identification of focal cortical dysplasia, including the non-balloon cell subtype. Ann Neurol 1998; 44:749–757.

    Article  CAS  PubMed  Google Scholar 

  161. Lee BC, Schmidt RE, Hatfield GA, Bourgeois B, Park TS. MRI of focal cortical dysplasia. Neuroradiology 1998; 40:675–683.

    Article  CAS  PubMed  Google Scholar 

  162. Matsuda K, Mihara T, Tottori T, Otubo T, Usui N, Baba K, Matsuyama N, Yagi K. Neuroradiologic findings in focal cortical dysplasia: histologic correlation with surgically resected specimens. Epilepsia 2001; 42(Suppl 6):29–36.

    PubMed  Google Scholar 

  163. Yagishita A, Arai N, Maehara T, Shimizu H, Tokumaru AM, Oda M. Focal cortical dysplasia: appearance on MR images. Radiology 1997; 203:553–559.

    CAS  PubMed  Google Scholar 

  164. Adamsbaum C, Robain O, Cohen PA, Delalande O, Fohlen M, Kalifa G. Focal cortical dysplasia and hemimegalencephaly: histological and neuroimaging correlations. Pediatr Radiol 1998; 28:583–590.

    Article  CAS  PubMed  Google Scholar 

  165. Kim SK, Na DG, Byun HS, Kim SE, Suh YL, Choi JY, Yoon HK, Han BK. Focal cortical dysplasia: comparison of MRI and FDG-PET. J Comput Assist Tomogr 2000; 24:296–302.

    Article  CAS  PubMed  Google Scholar 

  166. Daumas-Duport C. Dysembryoplastic neuroepithelial tumors in epilepsy surgery. In: Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin BG, Pfanner P (eds) Dysplasias of Cerebral Cortex and Epilepsy. Philadelphia: Lippincott-Raven, 1996:71–80.

    Google Scholar 

  167. Li LM, Cendes F, Bastos AC, Andermann F, Dubeau F, Arnold DL. Neuronal metabolic dysfunction in patients with cortical developmental malformations: a proton magnetic resonance spectroscopic imaging study. Neurology 1998; 50:755–759.

    CAS  PubMed  Google Scholar 

  168. Simone IL, Federico F, Tortorella C, De Blasi R, Bellomo R, Lucivero V, Carrara D, Bellacosa A, Livrea P, Carella A. Metabolic changes in neuronal migration disorders: evaluation by combined MRI and proton MR spectroscopy. Epilepsia 1999; 40:872–879.

    Article  CAS  PubMed  Google Scholar 

  169. Kaminaga T, Kobayashi M, Abe T. Proton magnetic resonance spectroscopy in disturbances of cortical development. Neuroradiology 2001; 43:575–580.

    Article  CAS  PubMed  Google Scholar 

  170. Pillai JJ, Hessler RB, Allison JD, Park YD, Lee MR, Lavin T. Advanced MR imaging of cortical dysplasia with or without neoplasm: a report of two cases. AJNR Am J Neuroradiol 2002; 23:1686–1691.

    PubMed  Google Scholar 

  171. Flores-Sarnat L. Hemimegalencephaly: part 1. Genetic, clinical, and imaging aspects. J Child Neurol 2002; 17:373–384.

    Article  PubMed  Google Scholar 

  172. Vigevano F, Fusco L, Granata T, Fariello G, Di Rocco C, Cusmai R. Hemimegalencephaly: clinical and EEG characteristics. In: Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin BG, Pfanner P (eds) Dysplasias of Cerebral Cortex and Epilepsy. Philadelphia: Lippincott-Raven, 1996:285–294.

    Google Scholar 

  173. Di Rocco C. Surgical treatment of hemimegalencephaly. In: Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin BG, Pfanner P (eds) Dysplasias of Cerebral Cortex and Epilepsy. Philadelphia: Lippincott-Raven, 1996:295–304.

    Google Scholar 

  174. Sener RN. MR demonstration of cerebral hemimegalencephaly associated with cerebellar involvement (total hemimegalencephaly). Comput Med Imaging Graph 1997; 21:201–204.

    Article  CAS  PubMed  Google Scholar 

  175. Robain O, Gelot A. Neuropathology of hemimegalencephaly. In: Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin BG, Pfanner P (eds) Dysplasias of Cerebral Cortex and Epilepsy. Philadelphia: Lippincott-Raven, 1996:89–92.

    Google Scholar 

  176. De Rosa MJ, Secor DL, Barsom M, Fisher RS, Vinters HV. Neuropathologic findings in surgically treated hemimegalencephaly: immunohistochemical, morphometric, and ultrastructural study. Acta Neuropathol (Berl) 1992; 84:250–260.

    Article  PubMed  Google Scholar 

  177. Yagishita A, Arai N, Tamagawa K, Oda M. Hemimegalencephaly: signal changes suggesting abnormal myelination on MRI. Neuroradiology 1998; 40:734–738.

    Article  CAS  PubMed  Google Scholar 

  178. Barkovich AJ, Chuang SH. Unilateral megalencephaly: correlation of MR imaging and pathologic characteristics. AJNR Am J Neuroradiol 1990; 11:523–531.

    CAS  PubMed  Google Scholar 

  179. Wolpert SM, Cohen A, Libenson MH. Hemimegalencephaly: a longitudinal MR study. AJNR Am J Neuroradiol 1994; 15:1479–1482.

    CAS  PubMed  Google Scholar 

  180. Hanefeld F, Kruse B, Holzbach U, Christen HJ, Merboldt KD, Hanicke W, Frahm J. Hemimegalencephaly: localized proton magnetic resonance spectroscopy in vivo. Epilepsia 1995; 3:1215–1224.

    Article  Google Scholar 

  181. Happle R. How many epidermal nevus syndromes exist? A clinicogenetic classification. J Am Acad Derm 1991; 25:550–556.

    Article  CAS  PubMed  Google Scholar 

  182. Dodge NN, Dobyns WB. Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome. Am J Med Genet 1995; 56:147–150.

    Article  CAS  PubMed  Google Scholar 

  183. Kuster W, Ehrig T, Happle R. “Hypomelanosis of Ito”: no entity, but a cutaneous sign of mosaicism. In: Nordlund JJ, Boissy R, Hearing V, King R, Ortonne JP (eds) The Pigmentary System and Its Disorders. New York: Oxford University Press; 19 1998:594–601

    Google Scholar 

  184. Blaser S, Jay V, Krafchik B. Hypomelanosis of Ito (Incontinentia Pigmenti Achromians). Int J Neuroradiol 1996; 2:176–181.

    Google Scholar 

  185. Williams DW 3rd, Elster AD. Cranial CT and MR in the Klippel-Trenaunay-Weber syndrome. AJNR Am J Neuroradiol 1992; 13:291–294.

    PubMed  Google Scholar 

  186. Berry SA, Peterson C, Mize W, Bloom K, Zachary C, Blasco P, Hunter D. Klippel-Trenaunay syndrome. Am J Med Genet 1998; 79:319–326.

    Article  CAS  PubMed  Google Scholar 

  187. Torregrosa A, Marti-Bonmati L, Higueras V, Poyatos C, Sanchis A. Klippel-Trenaunay syndrome: frequency of cerebral and cerebellar hemihypertrophy on MRI. Neuroradiology 2000; 42:420–423.

    Article  CAS  PubMed  Google Scholar 

  188. Wiedemann HR, Burgio GR, Aldenhoff P, Kunze J, Kaufmann HJ, Schirg E. The proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections. Eur J Pediatr 1983; 140:5–12.

    Article  CAS  PubMed  Google Scholar 

  189. Happle R. Cutaneous manifestation of lethal genes. Hum Genet 1986; 72:280.

    Article  CAS  PubMed  Google Scholar 

  190. Biesecker LG, Happle R, Mulliken JB, Weksberg R, Graham JM Jr, Viljoen DL, Cohen MM Jr. Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet 1999; 84:389–395.

    Article  CAS  PubMed  Google Scholar 

  191. DeLone DR, Brown WD, Gentry LR. Proteus syndrome: craniofacial and cerebral MRI. Neuroradiology 1999; 41:840–843.

    Article  CAS  PubMed  Google Scholar 

  192. Dietrich RB, Glidden DE, Roth GM, Martin RA, Demo DS. The Proteus syndrome: CNS manifestations. AJNR Am J Neuroradiol 1998; 19:987–990.

    CAS  PubMed  Google Scholar 

  193. Gordon PL, Wilroy RS, Lasater OE, Cohen MM Jr. Neoplasms in Proteus syndrome. Am J Med Genet 1995; 57:74–78.

    Article  CAS  PubMed  Google Scholar 

  194. Ross GW, Miller JQ, Persing JA, Urich H. Hemimegalencephaly, hemifacial hypertrophy and intracranial lipoma: a variant of neurofibromatosis. Neurofibromatosis 1989; 2:69–77.

    CAS  PubMed  Google Scholar 

  195. Cusmai R, Curatolo P, Mangano S, Cheminal R, Echenne B. Hemimegalencephaly and neurofibromatosis. Neuropediatrics 1990; 21:179–182.

    Article  CAS  PubMed  Google Scholar 

  196. Griffiths PD, Gardner SA, Smith M, Rittey C, Powell T. Hemimegalencephaly and focal megalencephaly in tuberous sclerosis complex. AJNR Am J Neuroradiol 1998; 19:1935–1938.

    CAS  PubMed  Google Scholar 

  197. Maloof J, Sledz K, Hogg JF, Bodensteiner JB, Schwartz T, Schochet SS. Unilateral megalencephaly and tuberous sclerosis: related disorders? J Child Neurol 1994; 9:443–446.

    Article  CAS  PubMed  Google Scholar 

  198. Galluzzi P, Cerase A, Strambi M, Buoni S, Fois A, Venturi C. Hemimegalencephaly in tuberous sclerosis complex. J Child Neurol 2002; 17:677–680.

    Article  PubMed  Google Scholar 

  199. Jay V, Becker LE, Otsubo H, Hwang PA, Hoffman HJ, Harwood-Nash D. Pathology of temporal lobectomy for refractory seizures in children. Review of 20 cases including some unique malformative lesions. J Neurosurg 1993; 79:53–61.

    Article  CAS  PubMed  Google Scholar 

  200. Prayson RA, Estes ML, Morris HH. Coexistence of neoplasia and cortical dysplasia in patients presenting with seizures. Epilepsia 1993; 34:609–615.

    Article  CAS  PubMed  Google Scholar 

  201. Reiner O, Carrozzo R, Shen Y, Wehnert M, Faustinella F, Dobyns WB, Caskey CT, Ledbetter DH. Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature 1993; 364:717–721.

    Article  CAS  PubMed  Google Scholar 

  202. Guerrini R, Carrozzo R. Epilepsy and genetic malformations of the cerebral cortex. Am J Med Genet 2001; 106:160–173.

    Article  CAS  PubMed  Google Scholar 

  203. Emes RD, Ponting CP. A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration. Hum Mol Genet 2001; 10:2813–2820.

    Article  CAS  PubMed  Google Scholar 

  204. des Portes V, Pinard JM, Billuart P, Vinet MC, Koulakoff A, Carrie A, Gelot A, Dupuis E, Motte J, Berwald-Netter Y, Catala M, Kahn A, Beldjord C, Chelly J. A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome. Cell 1998; 92:51–61.

    Article  PubMed  Google Scholar 

  205. Gleeson JG, Allen KM, Fox JW, Lamperti ED, Berkovic S, Scheffer I, Cooper EC, Dobyns WB, Minnerath SR, Ross ME, Walsh CA. Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell 1998; 92:63–72.

    Article  CAS  PubMed  Google Scholar 

  206. Gleeson JG, Lin PT, Flanagan LA, Walsh CA. Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons. Neuron 1999; 23:257–271.

    Article  CAS  PubMed  Google Scholar 

  207. Miller JQ. Lissencephaly in 2 siblings. Neurology 1963; 13:841–850.

    CAS  PubMed  Google Scholar 

  208. Dieker H, Edwards RH, ZuRhein G, Chou SM, Hartman HA, Opitz JM. The lissencephaly syndrome. In: Bergsma D (ed) The Clinical Delineation of Birth Defects: Malformation Syndromes. New York: National Foundation-March of Dimes, 1969:53–64.

    Google Scholar 

  209. Dobyns WB, van Tuinen P, Ledbetter DH. Clinical diagnostic criteria for Miller-Dieker syndrome [Abstr]. Am J Hum Genet 1988; 43:A46.

    Google Scholar 

  210. Pilz DT, Matsumoto N, Minnerath S, Mills P, Gleeson JG, Allen KM, Walsh CA, Barkovich AJ, Dobyns WB, Ledbetter DH, Ross ME. LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Hum Mol Genet 1998; 7:2029–2037.

    Article  CAS  PubMed  Google Scholar 

  211. Ross ME, Allen KM, Srivastava AK, Featherstone T, Gleeson JG, Hirsch B, Harding BN, Andermann E, Abdullah R, Berg M, Czapansky-Bielman D, Flanders DJ, Guerrini R, Motte J, Mira AP, Scheffer I, Berkovic S, Scaravilli F, King RA, Ledbetter DH, Schlessinger D, Dobyns WB, Walsh CA. Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain. Hum Mol Genet 1997; 6:555–562.

    Article  CAS  PubMed  Google Scholar 

  212. Dobyns WB, Truwit CL, Ross ME, Matsumoto N, Pilz DT, Ledbetter DH, Gleeson JG, Walsh CA, Barkovich AJ. Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. Neurology 1999; 53:270–277.

    CAS  PubMed  Google Scholar 

  213. Pilz DT, Kuc J, Matsumoto N, Bodurtha J, Bernadi B, Tassinari CA, Dobyns WB, Ledbetter DH. Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. Hum Mol Genet 1999; 8:1757–1760.

    Article  CAS  PubMed  Google Scholar 

  214. Cardoso C, Leventer RJ, Dowling JJ, Ward HL, Chung J, Petras KS, Roseberry JA, Weiss AM, Das S, Martin CL, Pilz DT, Dobyns WB, Ledbetter DH. Clinical and molecular basis of classical lissencephaly: mutations in the LIS1 gene (PAFAH1B1). Hum Mutat 2002; 19:4–15.

    Article  CAS  PubMed  Google Scholar 

  215. Barkovich AJ, Guerrini R, Battaglia G, Kalifa G, N’Guyen T, Parmeggiani A, Santucci M, Giovanardi-Rossi P, Granata T, D’Incerti L. Band heterotopia: correlation of outcome with magnetic resonance imaging parameters. Ann Neurol 1994; 36:609–617.

    Article  CAS  PubMed  Google Scholar 

  216. Landrieu P, Husson B, Pariente D, Lacroix C. MRI-neuropathological correlations in type 1 lissencephaly. Neuroradiology 1998; 40:173–176.

    Article  CAS  PubMed  Google Scholar 

  217. Barkovich AJ, Jackson DE Jr, Boyer RS. Band heterotopias: a newly recognized neuronal migration anomaly. Radiology 1989; 171:455–458

    CAS  PubMed  Google Scholar 

  218. Gallucci M, Bozzao A, Curatolo P, Splendiani A, Cifani A, Passariello R. MR imaging of incomplete band heterotopia. AJNR Am J Neuroradiol 1991; 12:701–702.

    CAS  PubMed  Google Scholar 

  219. Berry-Kravis E, Israel J. X-linked pachygyria and agenesis of the corpus callosum: evidence for an X chromosome lissencephaly locus. Ann Neurol 1994; 36:229–233.

    Article  CAS  PubMed  Google Scholar 

  220. Dobyns WB, Berry-Kravis E, Havernick NJ, Holden KR, Viskochil D. X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. Am J Med Genet 1999; 86:331–337.

    Article  CAS  PubMed  Google Scholar 

  221. Bonneau D, Toutain A, Laquerriere A, Marret S, Saugier-Veber P, Barthez MA, Radi S, Biran-Mucignat V, Rodriguez D, Gelot A. X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings. Ann Neurol 2002; 51:340–349.

    Article  PubMed  Google Scholar 

  222. Kitamura K, Yanazawa M, Sugiyama N, Miura H, Iizuka-Kogo A, Kusaka M, Omichi K, Suzuki R, Kato-Fukui Y, Kamiirisa K, Matsuo M, Kamijo S, Kasahara M, Yoshioka H, Ogata T, Fukuda T, Kondo I, Kato M, Dobyns WB, Yokoyama M, Morohashi K. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet 2002; 32:359–369.

    Article  CAS  PubMed  Google Scholar 

  223. Hong SE, Shugart YY, Huang DT, Shahwan SA, Grant PE, Hourihane JO, Martin ND, Walsh CA. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet 2000; 26:93–96.

    Article  CAS  PubMed  Google Scholar 

  224. Kerner B, Graham JM Jr, Golden JA, Pepkowitz SH, Dobyns WB. Familial lissencephaly with cleft palate and severe cerebellar hypoplasia. Am J Med Genet 1999; 87:440–445.

    Article  CAS  PubMed  Google Scholar 

  225. Dobyns WB, Kirkpatrick JB, Hittner HM, Roberts RM, Kretzer FL. Syndromes with lissencephaly. II: Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly. Am J Med Genet 1985; 22:157–195.

    Article  CAS  PubMed  Google Scholar 

  226. Barkovich AJ. Imaging of the cobblestone lissencephalies. AJNR Am J Neuroradiol 1996; 17:615–618.

    CAS  PubMed  Google Scholar 

  227. Aida N, Tamagawa K, Takada K, Yagishita A, Kobayashi N, Chikumaru K, Iwamoto H. Brain MR in Fukuyama congenital muscular dystrophy. AJNR Am J Neuroradiol 1996; 17:605–613.

    CAS  PubMed  Google Scholar 

  228. Barkovich AJ. Neuroimaging manifestations and classification of congenital muscular dystrophies. AJNR Am J Neuroradiol 1998; 19:1389–1396.

    CAS  PubMed  Google Scholar 

  229. Dobyns WB, Patton MA, Stratton RF, Mastrobattista JM, Blanton SH, Northrup H. Cobblestone lissencephaly with normal eyes and muscle. Neuropediatrics 1996; 27:70–75.

    Article  CAS  PubMed  Google Scholar 

  230. van der Knaap MS, Smit LM, Barth PG, Catsman-Berrevoets CE, Brouwer OF, Begeer JH, de Coo IF, Valk J. Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities. Ann Neurol 1997; 42:50–59.

    Article  PubMed  Google Scholar 

  231. Beltran-Valero De Bernabe D, Currier S, Steinbrecher A, Celli J, Van Beusekom E, Van Der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, Van Bokhoven H, Brunner HG. Mutations in the O-Mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet 2002; 71:1033–1043.

    Article  PubMed  Google Scholar 

  232. Rhodes RE, Hatten HP Jr, Ellington KS. Walker-Warburg syndrome. AJNR Am J Neuroradiol 1992; 13:123–126.

    CAS  PubMed  Google Scholar 

  233. Gelot A, Billette de Villemeur T, Bordarier C, Ruchoux MM, Moraine C, Ponsot G. Developmental aspects of type II lissencephaly. Comparative study of dysplastic lesions in fetal and post-natal brains. Acta Neuropathol (Berl) 1995; 89:72–84.

    Article  CAS  PubMed  Google Scholar 

  234. Dobyns WB. Classification of the cerebro-oculo-muscular syndrome(s). Brain Dev 1993; 15:242–244.

    Article  CAS  PubMed  Google Scholar 

  235. Toda T, Segawa M, Nomura Y, Nonaka I, Masuda K, Ishihara T, Sakai M, Tomita I, Origuchi Y, Suzuki M [corrected to Sakai M, et al. Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31–33. Nat Genet 1993;5:283–286.

    Article  CAS  PubMed  Google Scholar 

  236. Yoshioka M, Kuroki S. Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy. Am J Med Genet 1994; 53:245–250.

    Article  CAS  PubMed  Google Scholar 

  237. Fukuyama Y, Osawa M, Suzuki H. Congenital progressive muscular dystrophy of the Fukuyama type — clinical, genetic and pathological considerations. Brain Dev 1981; 3:1–29.

    CAS  PubMed  Google Scholar 

  238. Aida N, Yagishita A, Takada K, Katsumata Y. Cerebellar MR in Fukuyama congenital muscular dystrophy: polymicrogyria with cystic lesions. AJNR Am J Neuroradiol 1994; 15:1755–1759.

    CAS  PubMed  Google Scholar 

  239. Cormand B, Avela K, Pihko H, Santavuori P, Talim B, Topaloglu H, de la Chapelle A, Lehesjoki AE. Assignment of the muscle-eye-brain disease gene to 1p32–p34 by linkage analysis and homozygosity mapping. Am J Hum Genet 1999; 64:126–135.

    Article  CAS  PubMed  Google Scholar 

  240. Santavuori P, Somer H, Sainio K, Rapola J, Kruus S, Nikitin T, Ketonen L, Leisti J. Muscle-eye-brain disease (MEB). Brain Dev 1989; 11:147–153.

    CAS  PubMed  Google Scholar 

  241. Valanne L, Pihko H, Katevuo K, Karttunen P, Somer H, Santavuori P. MRI of the brain in muscle-eye-brain (MEB) disease. Neuroradiology 1994; 36:473–476.

    Article  CAS  PubMed  Google Scholar 

  242. Santavuori P, Valanne L, Autti T, Haltia M, Pihko H, Sainio K. Muscle-eye-brain disease: clinical features, visual evoked potentials and brain imaging in 20 patients. Eur J Paediatr Neurol 1998; 2:41–47.

    Article  CAS  PubMed  Google Scholar 

  243. Barkovich AJ, Kuzniecky RI. Gray matter heterotopia. Neurology 2000; 55:1603–1608.

    CAS  PubMed  Google Scholar 

  244. Guerrini R, Dravet C, Raybaud C, Roger J, Bureau M, Battaglia A, Livet MO, Gambarelli D, Robain O. Epilepsy and focal gyral anomalies detected by MRI: electroclinico-morphological correlations and follow-up. Dev Med Child Neurol 1992; 34:706–718.

    Article  CAS  PubMed  Google Scholar 

  245. Fox JW, Lamperti ED, Eksioglu YZ, Hong SE, Feng Y, Graham DA, Scheffer IE, Dobyns WB, Hirsch BA, Radtke RA, Berkovic SF, Huttenlocher PR, Walsh CA. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron 1998; 21:1315–1325.

    Article  CAS  PubMed  Google Scholar 

  246. Gorlin JB, Yamin R, Egan S, Stewart M, Stossel TP, Kwiatkowski DJ, Hartwig JH. Human endothelial actin-binding protein (ABP-280, nonmuscle filamin): a molecular leaf spring. J Cell Biol 1990; 111:1089–1105.

    Article  CAS  PubMed  Google Scholar 

  247. Dobyns WB, Guerrini R, Czapansky-Beilman DK, Pierpont ME, Breningstall G, Yock DH Jr, Bonanni P, Truwit CL. Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome. Neurology 1997; 49:1042–1047.

    CAS  PubMed  Google Scholar 

  248. Guerrini R, Dobyns WB. Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation. Neurology 1998; 51:499–503.

    CAS  PubMed  Google Scholar 

  249. Sheen VL, Dixon PH, Fox JW, Hong SE, Kinton L, Sisodiya SM, Duncan JS, Dubeau F, Scheffer IE, Schachter SC, Wilner A, Henchy R, Crino P, Kamuro K, DiMario F, Berg M, Kuzniecky R, Cole AJ, Bromfield E, Biber M, Schomer D, Wheless J, Silver K, Mochida GH, Berkovic SF, Andermann F, Andermann E, Dobyns WB, Wood NW, Walsh CA. Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. Hum Mol Genet 2001; 10:1775–1783.

    Article  CAS  PubMed  Google Scholar 

  250. Harding B. Gray matter heterotopia. In: Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin BG, Pfanner P (eds) Dysplasias of Cerebral Cortex and Epilepsy. Philadelphia: Lippincott-Raven, 1996:81–88.

    Google Scholar 

  251. Barkovich AJ, Kjos BO. Gray matter heterotopias: MR characteristics and correlation with developmental and neurologic manifestations. Radiology 1992; 182:493–499.

    CAS  PubMed  Google Scholar 

  252. Poussaint TY, Fox JW, Dobyns WB, Radtke R, Scheffer IE, Berkovic SF, Barnes PD, Huttenlocher PR, Walsh CA. Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings. Pediatr Radiol 2000; 30:748–755.

    Article  CAS  PubMed  Google Scholar 

  253. Barkovich AJ. Morphologic characteristics of subcortical heterotopia: MR imaging study. AJNR Am J Neuroradiol 2000; 21:290–295.

    CAS  PubMed  Google Scholar 

  254. Barkovich AJ. Subcortical heterotopia: a distinct clinicoradiologic entity. AJNR Am J Neuroradiol 1996; 17:1315–1322.

    CAS  PubMed  Google Scholar 

  255. Simonetti L, Elefante R, Tortori-Donati P. Anomalie della migrazione neuroblastica. In: Tortori-Donati P, Taccone A, Longo M (eds) Malformazioni Cranio-Encefaliche. Neuroradiologia. Turin: Minerva Medica, 1996:237–262.

    Google Scholar 

  256. Thompson JE, Castillo M, Thomas D, Smith MM, Mukherji SK. Radiologic-pathologic correlation — Polymicrogyria. AJNR Am J Neuroradiol 1997; 18:307–312.

    CAS  PubMed  Google Scholar 

  257. Barkovich AJ, Hevner R, Guerrini R. Syndromes of bilateral symmetrical polymicrogyria. AJNR Am J Neuroradiol 1999; 20:1814–1821.

    CAS  PubMed  Google Scholar 

  258. Piao X, Basel-Vanagaite L, Straussberg R, Grant PE, Pugh EW, Doheny K, Doan B, Hong SE, Shugart YY, Walsh CA. An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2–21. Am J Hum Genet 2002; 70:1028–1033.

    Article  CAS  PubMed  Google Scholar 

  259. Villard L, Nguyen K, Cardoso C, Martin CL, Weiss AM, Sifry-Platt M, Grix AW, Graham JM Jr, Winter RM, Leventer RJ, Dobyns WB. A locus for bilateral perisylvian polymicrogyria maps to Xq28. Am J Hum Genet 2002; 70:1003–1008.

    Article  CAS  PubMed  Google Scholar 

  260. Barkovich AJ, Lindan CE. Congenital cytomegalovirus infection of the brain: imaging analysis and embryologic considerations. AJNR Am J Neuroradiol 1994; 15:703–715.

    CAS  PubMed  Google Scholar 

  261. Barkovich AJ, Rowley H, Bollen A. Correlation of prenatal events with the development of polymicrogyria. AJNR Am J Neuroradiol 1995; 16(4 Suppl):822–827.

    CAS  PubMed  Google Scholar 

  262. Marques Dias MJ, Harmant-van Rijckevorsel G, Landrieu P, Lyon G. Prenatal cytomegalovirus disease and cerebral microgyria: evidence for perfusion failure, not disturbance of histogenesis, as the major cause of fetal cytomegalovirus encephalopathy. Neuropediatrics 1984; 15:18–24.

    Article  CAS  PubMed  Google Scholar 

  263. Guerrini R, Barkovich AJ, Sztriha L, Dobyns WB. Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome. Neurology 2000;54:909–913.

    CAS  PubMed  Google Scholar 

  264. Harding B, Copp A. Malformations. In: Graham DI, Lantos PI (eds) Greenfield’s Neuropathology, 6th edn. London: Arnold, 1997:397–533.

    Google Scholar 

  265. Cellerini M, Mascalchi M, Salvi F, Muscas GC, Dal Pozzo G. MRI of congenital Foix-Chavany-Marie syndrome. Pediatr Radiol 1995;25:316–317.

    Article  CAS  PubMed  Google Scholar 

  266. Pascual-Castroviejo I, Pascual-Pascual SI, Viano J, Martinez V, Palencia R. Unilateral polymicrogyria: a common cause of hemiplegia of prenatal origin. Brain Dev 2001;23:216–222.

    Article  CAS  PubMed  Google Scholar 

  267. Kuzniecky R, Andermann F, Guerrini R. Congenital bilateral perisylvian syndrome: study of 31 patients. The CBPS Multicenter Collaborative Study. Lancet 1993;341:608–612.

    Article  CAS  PubMed  Google Scholar 

  268. Kuzniecky R, Andermann F, and the CBPS Study Group. The conenital bilateral perisylvian syndrome: imaging findings in a multicenter study. AJNR Am J Neuroradiol 1994;15:139–144.

    CAS  PubMed  Google Scholar 

  269. Gropman AL, Barkovich AJ, Vezina LG, Conry JA, Dubovsky EC, Packer RJ. Pediatric congenital bilateral perisylvian syndrome: clinical and MRI features in 12 patients. Neuropediatrics 1997;28:198–203.

    Article  CAS  PubMed  Google Scholar 

  270. Van Bogaert P, David P, Gillain CA, Wikler D, Damhaut P, Scalais E, Nuttin C, Wetzburger C, Szliwowski HB, Metens T, Goldman S. Perisylvian dysgenesis. Clinical, EEG, MRI and glucose metabolism features in 10 patients. Brain 1998;121:2229–2238.

    Article  PubMed  Google Scholar 

  271. Borgatti R, Triulzi F, Zucca C, Piccinelli P, Balottin U, Carrozzo R, Guerrini R. Bilateral perisylvian polymicrogyria in three generations. Neurology 1999;52:1910–1913.

    CAS  PubMed  Google Scholar 

  272. Guerreiro MM, Andermann E, Guerrini R, Dobyns WB, Kuzniecky R, Silver K, Van Bogaert P, Gillain C, David P, Ambrosetto G, Rosati A, Bartolomei F, Parmeggiani A, Paetau R, Salonen O, Ignatius J, Borgatti R, Zucca C, Bastos AC, Palmini A, Fernandes W, Montenegro MA, Cendes F, Andermann F. Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment. Ann Neurol 2000;48:39–48.

    Article  CAS  PubMed  Google Scholar 

  273. Guerrini R, Dubeau F, Dulac O, Barkovich AJ, Kuzniecky R, Fett C, Jones-Gotman M, Canapicchi R, Cross H, Fish D, Bonanni P, Jambaque I, Andermann F. Bilateral parasagittal parietooccipital polymicrogyria and epilepsy. Ann Neurol 1997;41:65–73.

    Article  CAS  PubMed  Google Scholar 

  274. Montenegro MA, Guerreiro MM, Lopes-Cendes I, Cendes F. Bilateral posterior parietal polymicrogyria: a mild form of congenital bilateral perisylvian syndrome? Epilepsia 2001;42:845–849.

    Article  CAS  PubMed  Google Scholar 

  275. Aicardi J. Aicardi syndrome. In: Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin BG, Pfanner P (eds) Dysplasias of Cerebral Cortex and Epilepsy. Philadelphia: Lippincott-Raven, 1996:211–216.

    Google Scholar 

  276. Pavone L, Rizzo R, Pavone P, Curatolo P, Dobyns WB. Diffuse polymicrogyria associated with congenital hydrocephalus, craniosynostosis, severe mental retardation, and minor facial and genital anomalies. J Child Neurol 2000;15:493–495.

    Article  CAS  PubMed  Google Scholar 

  277. Duckett S. Pediatric Neuropathology. Philadelphia: Lippincott Williams & Wilkins, 1995.

    Google Scholar 

  278. Packard AM, Miller VS, Delgado MR. Schizencephaly: correlations of clinical and radiologic features. Neurology 1997;48:1427–1434.

    CAS  PubMed  Google Scholar 

  279. Barkovich AJ, Kjos BO. Schizencephaly: correlation of clinical findings with MR characteristics. AJNR Am J Neuroradiol 1992;13:85–94.

    CAS  PubMed  Google Scholar 

  280. Hayashi N, Tsutsumi Y, Barkovich AJ. Morphological features and associated anomalies of schizencephaly in the clinical population: detailed analysis of MR images. Neuroradiology 2002;44:418–427.

    Article  CAS  PubMed  Google Scholar 

  281. Brunelli S, Faiella A, Capra V, Nigro V, Simeone A, Cama A, Boncinelli E. Germline mutation in the homeobox gene EMX2 in patients with severe schizencephaly. Nature Genet 1996;12:94–96.

    Article  CAS  PubMed  Google Scholar 

  282. Hung PC, Wang HS, Yeh YS, Lui TN, Lee ST. Coexistence of schizencephaly and intracranial arteriovenous malformation in an infant. AJNR Am J Neuroradiol 1996;17:1921–1922.

    CAS  PubMed  Google Scholar 

  283. Barkovich AJ, Norman D. MR imaging of schizencephaly. AJR Am J Roentgenol 1988;150:1391–1396.

    CAS  PubMed  Google Scholar 

  284. Raybaud C, Girard N, Levrier O, Peretti-Viton P, Manera L, Farnarier P. Schizencephaly: correlation between the lobar topography of the cleft(s) and absence of the septum pellucidum. Childs Nerv Syst 2001;17:217–222.

    Article  CAS  PubMed  Google Scholar 

  285. Marciano S, Gambarelli D, Roussel M, Gire C, Raybaud C, Girard N. Challenge and resolution. Int J Neuroradiol 1999;5:43–50.

    Google Scholar 

  286. Volpe JJ. Neurology of the Newborn, 4th edn. Philadelphia: Saunders, 2001.

    Google Scholar 

  287. Barkovich AJ, Peck WW. MR of Zellweger syndrome. AJNR Am J Neuroradiol 1997;18:1163–1170.

    CAS  PubMed  Google Scholar 

  288. Moroni I, Bugiani M, Bizzi A, Castelli G, Lamantea E, Uziel G. Cerebral white matter involvement in children with mitochondrial encephalopathies. Neuropediatrics 2002;33:79–85.

    Article  CAS  PubMed  Google Scholar 

  289. Barkovich AJ, Peacock W. Sublobar dysplasia. A new malformation of cortical development. Neurology 1998;50:1383–1387.

    CAS  PubMed  Google Scholar 

  290. Hallonet ME, Le Douarin NM. Tracing neuroepithelial cells of the mesencephalic and metencephalic alar plates during cerebellar ontogeny in quail-chick chimaeras. Eur J Neurosci 1993;5:1145–1155.

    Article  CAS  PubMed  Google Scholar 

  291. Alvarez Otero R, Sotelo C, Alvarado-Mallart RM. Chick/quail chimeras with partial cerebellar grafts: an analysis of the origin and migration of cerebellar cells. J Comp Neurol 1993;333:597–615.

    Article  CAS  PubMed  Google Scholar 

  292. Yachnis AT, Rorke LB. Neuropathology of Joubert syndrome. J Child Neurol 1999;14:655–659.

    Article  CAS  PubMed  Google Scholar 

  293. Yachnis AT. Rhombencephalosynapsis with massive hydrocephalus: case report and pathogenetic considerations. Acta Neuropathol (Berl) 2002;103:301–304.

    Article  PubMed  Google Scholar 

  294. Blake JA. The roof and lateral recesses of the fourth ventricle, considered morphologically and embryologically. J Comp Neurol 1900;10:79–108.

    Article  Google Scholar 

  295. Altman NR, Naidich TP, Braffman BH. Posterior fossa malformations. AJNR Am J Neuroradiol 1992;13:691–724.

    CAS  PubMed  Google Scholar 

  296. Berry M, Bannister LH, Standring M. Nervous system. In: Williams PL (ed) Gray’s Anatomy, 38th edn. Edinburgh: Churchill Livingstone, 1999:1011–1065.

    Google Scholar 

  297. O’Rahilly R, Muller F. The meninges in human development. J Neuropathol Exp Neurol 1986;45:588–608.

    Article  PubMed  Google Scholar 

  298. Raybaud C. [Cystic malformations of the posterior fossa. Abnormalities associated with the development of the roof of the fourth ventricle and adjacent meningeal structures]. J Neuroradiol 1982;9:103–133.

    CAS  PubMed  Google Scholar 

  299. Tortori-Donati P, Longo M, Fondelli MP, Cama A, Carini S, Rossi A. Malformazioni del cervelletto. In: Tortori-Donati P, Taccone A, Longo M (eds) Malformazioni cranio-encefaliche. Neuroradiologia. Turin: Minerva Medica, 1996:159–207.

    Google Scholar 

  300. Sidman RL, Rakic P. Development of the human nervous system. In: Haymaker W, Adams R (eds) Histology and Histopathology of the Nervous System. Springfield: Thomas, 1982.

    Google Scholar 

  301. Costa C, Hauw JJ. Pathology of the cerebellum, brain stem, and spinal cord. In: Duckett S (ed) Pediatric Neuropathology. Baltimore: Williams & Wilkins, 1995:217–238.

    Google Scholar 

  302. Benda CE. The Dandy-Walker syndrome or the so-called atresia of the foramen of Magendie. J Neuropathol Exp Neurol 1954;13:14–29.

    CAS  PubMed  Google Scholar 

  303. Dandy WE, Blackfan KD. Internal hydrocephalus. An experimental, clinical and pathological study. Am J Dis Child 1914;8:406–482.

    Google Scholar 

  304. Taggart TK Jr, Walker AE. Congenital atresia of the foramina of Luschka and Magendie. Arch Neurol Psychiatry 1942;48:583–612.

    Google Scholar 

  305. Harwood-Nash DC, Fitz CR. Neuroradiology in Infants and Children, vol.3. St. Louis: Mosby, 1976:1014–1019.

    Google Scholar 

  306. Barkovich AJ, Kjos BO, Norman D, Edwards MS. Revised classification of posterior fossa cysts and cystlike malformations based on the results of multiplanar MR imaging. AJR Am J Roentgenol 1989;153:1289–1300.

    CAS  PubMed  Google Scholar 

  307. Kumar R, Jain MK, Chhabra DK. Dandy-Walker syndrome: different modalities of treatment and outcome in 42 cases. Childs Nerv Syst 2001;17:348–352.

    Article  CAS  PubMed  Google Scholar 

  308. Miyamori T, Okabe T, Hasegawa T, Takinami K, Matsumoto T. Dandy-Walker syndrome successfully treated with cystoperitoneal shunting-case report. Neurol Med Chir (Tokyo) 1999;39:766–768.

    Article  CAS  Google Scholar 

  309. Maria BL, Zinreich SJ, Carson BC, Rosenbaum AE, Freeman JM. Dandy-Walker syndrome revisited. Pediatr Neurosci 1987;13:45–51.

    Article  CAS  PubMed  Google Scholar 

  310. Morava E, Adamovich K, Czeizel AE. Dandy-Walker malformation and polydactyly: a possible expression of hydrolethalus sindrome. Clin Genet 1996;49:211–215.

    Article  CAS  PubMed  Google Scholar 

  311. Leonardi ML, Pai GS, Wilkes B, Lebel RR. Ritscher-Schinzel cranio-cerebello-cardiac (3C) sindrome: report of four new cases and review. Am J Med Genet 2001;102:237–242.

    Article  CAS  PubMed  Google Scholar 

  312. Berker M, Oruckaptan HH, Oge HK, Benli K. Neurocutaneous melanosis associated with Dandy-Walker malformation. Case report and review of the literature. Pediatr Neurosurg 2000;33:270–273.

    Article  CAS  PubMed  Google Scholar 

  313. Barkovich AJ, Frieden IJ, Williams ML. MR of neurocutaneous melanosis. AJNR Am J Neuroradiol 1994;15:859–867.

    CAS  PubMed  Google Scholar 

  314. Chaloupka JC, Wolf RJ, Varma PK. Neurocutaneous melanosis with the Dandy-Walker malformation: a possible rare pathoetiologic association. Neuroradiology 1996;38:486–489.

    Article  CAS  PubMed  Google Scholar 

  315. Frieden IJ, Reese V, Cohen D. PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Arch Dermatol 1996;132:307–311.

    Article  CAS  PubMed  Google Scholar 

  316. Rossi A, Bava GL, Biancheri R, Tortori-Donati P. Posterior fossa and arterial abnormalities in patients with facial capillary haemangioma: presumed incomplete phenotypic expression of PHACES syndrome. Neuroradiology 2001;43:934–940.

    Article  CAS  PubMed  Google Scholar 

  317. Peters V, Penzien JM, Reiter G, Korner C, Hackler R, Assmann B, Fang J, Schaefer JR, Hoffmann GF, Heidemann PH. Congenital disorder of glycosylation IId (CDG-IId) — A new entity: clinical presentation with Dandy-Walker malformation and myopathy. Neuropediatrics 2002;33:27–32.

    Article  CAS  PubMed  Google Scholar 

  318. Humbertclaude VT, Coubes PA, Leboucq N, Echenne BB. Familial Dandy-Walker malformation and leukodystrophy. Pediatr Neurol 1997;16:326–328.

    Article  CAS  PubMed  Google Scholar 

  319. Tortori-Donati P, Fondelli MP, Rossi A, Cama A, Carini S, Piatelli GL, Ravegnani M. Malformazioni cistiche della fossa cranica posteriore. Riv Neuroradiol 1994;7:199–207.

    Google Scholar 

  320. Bentson JR, Alberti J. The fourth ventricle. In: Newton TH, Potts DG (eds) Radiology of the Skull and Brain. Ventricles and Cisterns. St. Louis: CV Mosby, 1978:3303–3362.

    Google Scholar 

  321. Strand RD, Barnes PD, Poussaint TY, Estroff JA, Burrows PE. Cystic retrocerebellar malformations: unification of the Dandy-Walker complex and the Blake’s pouch cyst. Pediatr Radiol 1993;23:258–260.

    Article  CAS  PubMed  Google Scholar 

  322. Tortori-Donati P, Fondelli MP, Rossi A, Carini S. Cystic malformations of the posterior cranial fossa originating from a defect of the posterior membranous area. Mega cisterna magna and persisting Blake’s pouch: two separate entities. Childs Nerv Syst 1996;12:303–308.

    Article  CAS  PubMed  Google Scholar 

  323. Rossi A, Catala M, Di Comite R, Biancheri R, Cama A, Tortori-Donati P. Persistence of the Blake’s pouch: an embryogenetic theory for the occurrence of infraretrocerebellar “cysts” associated with normal cerebellum and tetraventricular hydrocephalus [Abstr]. Proceedings of the 41st Meeting of the American Society of Neuroradiology, 2003:135–136.

    Google Scholar 

  324. Calabrò F, Arcuri T, Jinkins JR. Blake’s pouch cyst: an entity within the Dandy-Walker continuum. Neuroradiology 2000;42:290–295.

    Article  PubMed  Google Scholar 

  325. Gonsette R, Potvliege R, Andre-Balòisaux G, Stenuit J. La méga grande citerne: étude clinique, radiologique et anatomopathologique. Acta Neurol Belg 1968;68:559–570.

    CAS  Google Scholar 

  326. Joubert M, Eisenring JJ, Andermann F. Familial dysgenesis of the vermis: a syndrome of hyperventilation, abnormal eye movements and retardation. Neurology 1968;18:302–303.

    CAS  PubMed  Google Scholar 

  327. Maria BL, Hoang KB, Tusa RJ, Mancuso AA, Hamed LM, Quisling RG, Hove MT, Fennell EB, Booth-Jones M, Ringdahl DM, Yachnis AT, Creel G, Frerking B. “Joubert syndrome” revisited: key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol 1997;12:423–430.

    Article  CAS  PubMed  Google Scholar 

  328. Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB. Clinical nosologic and genetic aspects of Joubert and related syndromes. J Child Neurol 1999;14:660–666.

    Article  CAS  PubMed  Google Scholar 

  329. Satran D, Pierpont ME, Dobyns WB. Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome. Am J Med Genet 1999;86:459–469.

    Article  CAS  PubMed  Google Scholar 

  330. Blair IP, Gibson RR, Bennett CL, Chance PF. Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1. Am J Med Genet 2002;107:190–196.

    Article  PubMed  Google Scholar 

  331. Maria BL, Quisling RG, Rosainz LC, Yachnis AT, Gitten J, Dede D, Fennell E. Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance. J Child Neurol 1999;14:368–376.

    Article  CAS  PubMed  Google Scholar 

  332. Friede RL, Boltshauser E. Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome. Dev Med Child Neurol 1978;20:758–763.

    Article  CAS  PubMed  Google Scholar 

  333. Maria BL, Boltshauser E, Palmer SC, Tran TX. Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol 1999;14:583–591.

    Article  CAS  PubMed  Google Scholar 

  334. Gitten J, Dede D, Fennell E, et al. Neurobehavioral development in Joubert syndrome. J Child Neurol 1998;13:391–397.

    Article  CAS  PubMed  Google Scholar 

  335. Steinlin M, Schmid M, Landau K, Boltshauser E. Follow-up in children with Joubert syndrome. Neuropediatrics 1997;28:204–211.

    Article  CAS  PubMed  Google Scholar 

  336. Quisling RG, Barkovich AJ, Maria BL. Magnetic resonance features and classification of central nervous system malformations in Joubert syndrome. J Child Neurol 1999;14:628–635.

    Article  CAS  PubMed  Google Scholar 

  337. Maria BL, Bozorgmanesh A, Kimmel KN, Theriaque D, Quisling RG. Quantitative assessment of brainstem development in Joubert syndrome and Dandy-Walker syndrome. J Child Neurol 2001;16:751–758.

    Article  CAS  PubMed  Google Scholar 

  338. Truwit CL, Barkovich AJ, Shanahan R, Maroldo TV. MR imaging of rhombencephalosynapsis: report of three cases and review of the literature. AJNR Am J Neuroradiol 1991;12:957–965.

    CAS  PubMed  Google Scholar 

  339. Romanengo M, Tortori-Donati P, Di Rocco M. Rhombencephalosynapsis with facial anomalies and probable autosomal recessive inheritance: a case report. Clin Genet 1997;52:184–186.

    Article  CAS  PubMed  Google Scholar 

  340. Montull C, Mercader JM, Peri J, Martinez Ferri M, Bonaventura I. Neuroradiological and clinical findings in rhombencephalosynapsis. Neuroradiology 2000;42:272–274.

    Article  CAS  PubMed  Google Scholar 

  341. Utsunomiya H, Takano K, Ogasawara T, Hashimoto T, Fukushima T, Okazaki M. Rhombencephalosynapsis: cerebellar embryogenesis. AJNR Am J Neuroradiol 1998;19:547–549.

    CAS  PubMed  Google Scholar 

  342. Jellinger KA. Rhombencephalosynapsis. Acta Neuropathol (Berl) 2002;103:305–306.

    Article  PubMed  Google Scholar 

  343. Garfinkle WB. Aventriculy: a new entity. AJNR Am J Neuroradiol 1997;17:1649–1650.

    Google Scholar 

  344. Aydingoz U, Cila A, Aktan G. Rhombencephalosynapsis associated with hand anomalies. Br J Radiol 1997;70:764–766.

    CAS  PubMed  Google Scholar 

  345. Manzanares M, Trainor PA, Ariza-McNaughton L, Nonchev S, Krumlauf R. Dorsal patterning defects in the hindbrain, roof plate and skeleton in the dreher (dr(J)) mouse mutant. Mech Dev 2000;94:147–156.

    Article  CAS  PubMed  Google Scholar 

  346. Millonig JH, Millen KJ, Hatten ME. The mouse Dreher gene Lmx1a controls formation of the roof plate in the vertebrate CNS. Nature 2000;403(6771):764–769.

    Article  CAS  PubMed  Google Scholar 

  347. Costa C, Harding B, Copp AJ. Neuronal migration defects in the Dreher (Lmx1a) mutant mouse: role of disorders of the glial limiting membrane. Cereb Cortex 2001;11:498–505.

    Article  CAS  PubMed  Google Scholar 

  348. Friede RL. Uncommon syndromes of cerebellar vermis aplasia. II: Tecto-cerebellar dysraphia with occipital encephalocele. Dev Med Child Neurol 1978;20:764–772.

    Article  CAS  PubMed  Google Scholar 

  349. Gardner RJ, Coleman LT, Mitchell LA, et al. Near-total absence of the cerebellum. Neuropediatrics 2001;32:62–68.

    Article  CAS  PubMed  Google Scholar 

  350. Velioglu SK, Kuzeyli K, Zzmenoglu M. Cerebellar agenesis: a case report with clinical and MR imaging findings and a review of the literature. Eur J Neurol 1998;5:503–506.

    Article  PubMed  Google Scholar 

  351. Barth PG. Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev 1993;15:411–422.

    Article  CAS  PubMed  Google Scholar 

  352. Barth PG. Pontocerebellar hypoplasia-how many types? Eur J Paediatr Neurol 2000;4:161–162.

    Article  CAS  PubMed  Google Scholar 

  353. Stromme P, Maehlen J, Strom EH, Torvik A. [The carbohydrate deficient glycoprotein syndrome]. Tidsskr Nor Laegeforen 1991;111:1236–1237.

    CAS  PubMed  Google Scholar 

  354. de Koning TJ, de Vries LS, Groenendaal F, et al. Pontocerebellar hypoplasia associated with respiratory-chain defects. Neuropediatrics 1999;30:93–95.

    Article  PubMed  Google Scholar 

  355. Squier MV. Development of the cortical dysplasia of type II lissencephaly. Neuropathol Appl Neurobiol 1993;19:209–213.

    Article  CAS  PubMed  Google Scholar 

  356. Uhl M, Pawlik H, Laubenberger J, Darge K, Baborie A, Korinthenberg R, Langer M. MR findings in pontocerebellar hypoplasia. Pediatr Radiol 1998;28:547–551.

    Article  CAS  PubMed  Google Scholar 

  357. Goasdoué P, Rodriguez D, Moutard ML, Robain O, Lalande G, Adamsbaum C. Pontoneocerebellar hypoplasia: definition of MR features. Pediatr Radiol 2001;31:613–618.

    Article  PubMed  Google Scholar 

  358. Boltshauser E, Steinlin M, Martin E, Deonna T. Unilateral cerebellar aplasia. Neuropediatrics 1996;27:50–53.

    Article  CAS  PubMed  Google Scholar 

  359. Wang PJ, Maeda Y, Izumi T, Yajima K, Hara M, Kobayashi N, Fukuyama Y. An association of subtotal cerebellar agenesis with organoid nevus-a possible new variety of neurocutaneous syndrome. Brain Dev 1983;5:503–508.

    CAS  PubMed  Google Scholar 

  360. Serrano Gonzalez C, Prats Vinas JM. [Unilateral aplasia of the cerebellum in Aicardi’s syndrome] Neurologia 1998;13:254–256.

    CAS  PubMed  Google Scholar 

  361. Boltshauser E. Joubert syndrome: more than lower cerebellar vermis hypoplasia, less than a complex brain malformation [letter]. Am J Med Genet 2002;109:332.

    Article  PubMed  Google Scholar 

  362. Soto-Ares G, Delmaire C, Deries B, Vallee L, Pruvo JP. Cerebellar cortical dysplasia: MR findings in a complex entity. AJNR Am J Neuroradiol 2000;21:1511–1519.

    CAS  PubMed  Google Scholar 

  363. Nowak DA, Trost HA. Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma): a malformation, hamartoma or neoplasm? Acta Neurol Scand 2002;105:137–145.

    Article  CAS  PubMed  Google Scholar 

  364. Padberg GW, Schot JD, Vielvoye GJ, Bots GT, de Beer FC. Lhermitte-Duclos disease and Cowden disease: a single phakomatosis. Ann Neurol 1991;29:517–523.

    Article  CAS  PubMed  Google Scholar 

  365. Robinson S, Cohen AR. Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis. Neurosurgery 2000;46:371–383.

    Article  CAS  PubMed  Google Scholar 

  366. Demaerel P. Abnormalities of cerebellar foliation and fissuration: classification, neurogenetics and clinicoradiological correlations. Neuroradiology 2002;44:639–646.

    Article  CAS  PubMed  Google Scholar 

  367. Sasaki M, Ehara S, Watabe T. Cerebellar polymicrogyria [letter]. AJNR Am J Neuroradiol 1997;18:394–396.

    CAS  PubMed  Google Scholar 

  368. Soto-Ares G, Devisme L, Jorriot S, Deries B, Pruvo JP, Ruchoux MM. Neuropathologic and MR imaging correlation in a neonatal case of cerebellar cortical dysplasia. AJNR Am J Neuroradiol 2002;23:1101–1104.

    PubMed  Google Scholar 

  369. Demaerel P, Wilms G, Marchal G. Rostral vermian cortical dysplasia: MRI. Neuroradiology 1999;41:190–194.

    Article  CAS  PubMed  Google Scholar 

  370. Sasaki M, Oikawa H, Ehara S, Tamakawa Y, Takahashi S, Tohgi H. Disorganised unilateral cerebellar folia: a mild form of cerebellar cortical dysplasia? Neuroradiology 2001;43:151–155.

    Article  CAS  PubMed  Google Scholar 

  371. Demaerel P, Lagae L, Casaer P, Baert AL. MR of cerebellar cortical dysplasia. AJNR Am J Neuroradiol 1998;19:984–986.

    CAS  PubMed  Google Scholar 

  372. Pascual-Castroviejo I, Gutierrez M, Morales C, Gonzalez-Mediero I, Martinez-Bermejo A, Pascual-Pascual SI. Primary degeneration of the granular layer of the cerebellum. A study of 14 patients and review of the literature. Neuropediatrics 1994;25:183–190.

    Article  CAS  PubMed  Google Scholar 

  373. Bodensteiner JB, Schaefer GB, Keller GM, Thompson JN, Bowen MK. Macrocerebellum: neuroimaging and clinical features of a newly recognized condition. J Child Neurol 1997;12:365–368.

    Article  CAS  PubMed  Google Scholar 

  374. Rossi A, Catala M, Biancheri R, Di Comite R, Tortori-Donati P. MR imaging of brain-stem hypoplasia in horizontal gaze palsy with progressive scoliosis. AJNR Am J Neuroradiol 2004;25:1046–1048.

    PubMed  Google Scholar 

  375. Mamourian AC, Miller G. Neonatal pontomedullary disconnection with aplasia or destruction of the lower brain stem: a case of pontoneocerebellar hypoplasia? AJNR Am J Neuroradiol 1994;15:1483–1485.

    CAS  PubMed  Google Scholar 

  376. Sarnat HB, Benjamin DR, Siebert JR, Kletter GB, Cheyette SR. Agenesis of the mesencephalon and metencephalon with cerebellar hypoplasia: putative mutation in the EN2 gene. Report of 2 cases in early infancy. Pediatr Dev Pathol 2002;5:54–68.

    Article  PubMed  Google Scholar 

  377. Uematsu J, Ono K, Yamano T, Shimada M. Development of corticospinal tract fibers and their plasticity. II. Neonatal unilateral cortical damage and subsequent development of the corticospinal tract in mice. Brain Dev 1996;18:173–178.

    Article  CAS  PubMed  Google Scholar 

  378. Schachenmayr W, Friede RL. Dystopic myelination with hypertrophy of pyramidal tract. J Neuropathol Exp Neurol 1978;37:34–44.

    Article  CAS  PubMed  Google Scholar 

  379. Milhorat TH, Chou MW, Trinidad EM, Kula RW, Mandell M, Wolpert C, Speer MC. Chiari I malformation redefined: clinical and radiological findings for 364 symptomatic patients. Neurosurgery 1999;44:1005–1017.

    Article  CAS  PubMed  Google Scholar 

  380. Ehara S, Shimamura T. The semantics of terminology: distinguishing Arnold-Chiari malformations from Chiari malformations. J Bone Joint Surg 2002;84A:321.

    Google Scholar 

  381. Chiari H. Über veränderungen des kleinhirns infolge von hydrocephalie des grosshirns. Dtsch Med Wochenschr 1891;17:1172–1175.

    Article  Google Scholar 

  382. Nishikawa M, Sakamoto H, Hakuba A, Nakanishi N, Inoue Y. Pathogenesis of Chiari malformation: a morphometric study of the posterior cranial fossa. J Neurosurg 1997;86:40–47.

    Article  CAS  PubMed  Google Scholar 

  383. Turgut M. Chiari type I malformation in two monozygotic twins. Br J Neurosurg 2001;15:279–280.

    Article  CAS  PubMed  Google Scholar 

  384. Cavender RK, Schmidt JH. Tonsillar ectopia and Chiari malformations: monozygotic triplets. J Neurosurg 1995;82:497–500.

    Article  CAS  PubMed  Google Scholar 

  385. Tortori-Donati P, Cama A, Fondelli MP, Rossi A. Le malformazioni di Chiari. In: Tortori-Donati P, Taccone A, Longo M (eds) Malformazioni cranio-encefaliche. Neuroradiologia. Turin: Minerva Medica, 1996:209–236.

    Google Scholar 

  386. Elster AD, Chen MYM. Chiari I malformations: clinical and radiological reappraisal. Radiology 1992;183:347–353.

    CAS  PubMed  Google Scholar 

  387. Park JK, Gleason PL, Madsen JR, Goumnerova LC, Scott RM. Presentation and management of Chiari I malformation in children. Pediatr Neurosurg 1997;26:190–196.

    Article  CAS  PubMed  Google Scholar 

  388. Pujol J, Roig C, Capdevila A, Pou A, Marti-Vilalta JL, Kulisevsky J, Escartin A, Zannoli G. Motion of the cerebellar tonsils in Chiari type I malformation studied by cine phase-contrast MRI. Neurology 1995;45:1746–1753.

    CAS  PubMed  Google Scholar 

  389. Oldfield EH, Muraszko K, Shawker TH, Patronas NJ. Pathophysiology of syringomyelia associated with Chiari I malformation of the cerebellar tonsils. Implications for diagnosis and treatment. J Neurosurg 1994;80:3–15.

    Article  CAS  PubMed  Google Scholar 

  390. Nakamura N, Iwasaki Y, Hida K, Abe H, Fujioka Y, Nagashima K. Dural band pathology in syringomyelia with Chiari type I malformation. Neuropathology 2000;20:38–43.

    Article  CAS  PubMed  Google Scholar 

  391. Castillo M, Wilson JD. Spontaneous resolution of a Chiari I malformation: MR demonstration. AJNR Am J Neuroradiol 1995;16:1158–1160.

    CAS  PubMed  Google Scholar 

  392. Klekamp J, Iaconetta G, Samii M. Spontaneous resolution of Chiari I malformation and syringomyelia: case report and review of the literature. Neurosurgery 2001;48:664–667.

    Article  CAS  PubMed  Google Scholar 

  393. Welch K, Shillito J, Strand R, Fischer EG, Winston KR. Chiari I “malformations”-an acquired disorder? J Neurosurg 1981;55:604–609.

    Article  CAS  PubMed  Google Scholar 

  394. Sathi S, Stieg PE. “Acquired” Chiari I malformation after multiple lumbar punctures: case report. Neurosurgery 1993;32:306–309.

    Article  CAS  PubMed  Google Scholar 

  395. Chumas PD, Armstrong DC, Drake JM, Kulkarni AV, Hoffman HJ, Humphreys RP, Rutka JT, Hendrick EB. Tonsillar herniation: the rule rather than the exception after lumboperitoneal shunting in the pediatric population. J Neurosurg 1993;78:568–573

    Article  CAS  PubMed  Google Scholar 

  396. Lazareff JA, Kelly J, Saito M. Herniation of cerebellar tonsils following supratentorial shunt placement. Childs Nerv Syst 1998;14:394–397.

    Article  CAS  PubMed  Google Scholar 

  397. Atkinson JL, Weinshenker BG, Miller GM, Piepgras DG, Mokri B. Acquired Chiari I malformation secondary to spontaneous spinal cerebrospinal fluid leakage and chronic intracranial hypotension syndrome in seven cases. J Neurosurg 1998;88:237–242.

    Article  CAS  PubMed  Google Scholar 

  398. Lee M, Rezai AR, Wisoff JH. Acquired Chiari-I malformation and hydromyelia secondary to a giant craniopharyngioma. Pediatr Neurosurg 1995;22:251–254.

    Article  CAS  PubMed  Google Scholar 

  399. Sheehan JM, Jane JA Sr. Resolution of tonsillar herniation and syringomyelia after supratentorial tumor resection: case report and review of the literature. Neurosurgery 2000;47:233–235.

    Article  CAS  PubMed  Google Scholar 

  400. Payner TD, Prenger E, Berger TS, Crone KR. Acquired Chiari malformations: incidence, diagnosis, and management. Neurosurgery 1994;34:429–434.

    Article  CAS  PubMed  Google Scholar 

  401. Meadows J, Kraut M, Guarnieri M, Haroun RI, Carson BS. Asymptomatic Chiari Type I malformations identified on magnetic resonance imaging. J Neurosurg 2000;92:920–926.

    Article  CAS  PubMed  Google Scholar 

  402. Wu YW, Chin CT, Chan KM, Barkovich AJ, Ferriero DM. Pediatric Chiari I malformations. Do clinical and radiologic features correlate? Neurology 1999;53:1271–1276.

    CAS  PubMed  Google Scholar 

  403. Bunc G, Vorsic M. Presentation of a previously asymptomatic Chiari I malformation by a flexion injury to the neck. J Neurotrauma 2001;18:645–648.

    Article  CAS  PubMed  Google Scholar 

  404. Leong WK, Kermode AG. Acute deterioration in Chiari type 1 malformation after chiropractic cervical manipulation. J Neurol Neurosurg Psychiatry 2001; 70:816–817.

    Article  CAS  PubMed  Google Scholar 

  405. Ball WS Jr, Crone KR. Chiari I malformation: from Dr Chiari to MR imaging. Radiology 1995;195:602–604.

    PubMed  Google Scholar 

  406. Christophe C, Dan B. magnetic resonance imaging cranial and cerebral dimensions: is there a relationship with Chiari I malformation? A preliminary report in children. Europ J Paediatr Neurol 1999;3:15–24.

    Article  CAS  Google Scholar 

  407. Aboulezz AO, Sartor K, Geyer CA, Gado MH. Position of cerebellar tonsils in the normal population and in patients with Chiari malformation: a quantitative approach with MR imaging. J Comput Assist Tomogr 1985;9:1033–1036.

    Article  CAS  PubMed  Google Scholar 

  408. Mikulis DJ, Diaz O, Egglin TK, Sanchez R. Variance of the position of the cerebellar tonsils with age: preliminary report. Radiology 1992;183:725–728.

    CAS  PubMed  Google Scholar 

  409. Cama A, Tortori-Donati P, Piatelli GL, Fondelli MP, Andreussi L. Chiari complex in children: neuroradiological diagnosis, neurosurgical treatment and proposal of a new classification (312 cases). Eur J Pediatr Surg 1995;5:35–38.

    Article  PubMed  Google Scholar 

  410. Du Boulay GH, Shah S, Currie JC, logue V. The macheanism of hydromyelia in Chiari type I malformation. Br J Radiol 1974;47:579–587.

    Article  PubMed  Google Scholar 

  411. Bhadelia RA, Bogdan AR, Wolpert SM, Lev S, Appignani BA, Heilman CB. Cerebrospinal fluid flow waveforms: analysis in patients with Chiari I malformation by means of gated phase-contrast MR imaging velocity measurements. Radiology 1995;196:195–202.

    CAS  PubMed  Google Scholar 

  412. Wolpert SM, Bhadelia RA, Bogdan AR, Cohen AR. Chiari I malformations: assessment with phase-contrast velocity MR. AJNR Am J Neuroradiol 1994;15:1299–1308.

    CAS  PubMed  Google Scholar 

  413. Hofmann E, Warmuth-Metz M, Bendszus M, Solymosi L. Phase-contrast MR imaging of the cervical CSF and spinal cord: volumetric motion analysis in patients with Chiari I malformation. AJNR Am J Neuroradiol 2000;21:151–158.

    CAS  PubMed  Google Scholar 

  414. Hamilton J, Blaser S, Daneman D. MR imaging in idiopathic growth hormone deficiency. AJNR Am J Neuroradiol 1998;19:1609–1615.

    CAS  PubMed  Google Scholar 

  415. Triulzi F, Scotti G, di Natale B, Pellini C, Lukezic M, Scognamiglio M, Chiumello G. Evidence of a congenital midline brain anomaly in pituitary dwarfs: a magnetic resonance imaging study in 101 patients. Pediatrics 1994;93:409–416.

    CAS  PubMed  Google Scholar 

  416. Ellis SJ, Crockard A, Barnard RO. Klinefelter’s syndrome, cerebral germinoma, Chiari malformation, and syrinx: a case report. Neurosurgery 1986;18:220–222.

    Article  CAS  PubMed  Google Scholar 

  417. Shaw CM, Alvord EC Jr. Hydrocephalus. In: Duckett S (ed) Pediatric neuropathology. Baltimore: Williams & Wilkins, 1995:168–179.

    Google Scholar 

  418. Tortori-Donati P, Rossi A, Cama A. Spinal dysraphism: a review of neuroradiological features with embryological correlations and proposal for a new classification. Neuroradiology 2000;42:471–491.

    Article  CAS  PubMed  Google Scholar 

  419. McLone DG, Knepper PA. The cause of Chiari II malformation: a unified theory. Pediatr Neurosci 1989;15:1–12.

    Article  CAS  PubMed  Google Scholar 

  420. Wolpert SM, Scott RM, Platenberg C, Runge VM. The clinical significance of hindbrain herniation and deformity as shown on MR images of patients with Chiari II malformation. AJNR Am J Neuroradiol 1988;9:1075–1078.

    CAS  PubMed  Google Scholar 

  421. Narayan P, Mapstone TB, Tubbs RS, Grabb PA, Frye T. Clinical significance of cervicomedullary deformity in Chiari II malformation. Pediatr Neurosurg 2001;35:140–144.

    Article  CAS  PubMed  Google Scholar 

  422. McLone DG, Naidich TP. Developmental morphology of the subarachnoid space, brain vasculature, and contiguous structures, and the cause of the Chiari II malformation. AJNR Am J Neuroradiol 1992;13:463–482.

    CAS  PubMed  Google Scholar 

  423. Tubbs RS, Dockery SE, Salter G, Elton S, Blount JP, Grabb PA, Oakes WJ. Absence of the falx cerebelli in a Chiari II malformation. Clin Anat 2002;15:193–195.

    Article  PubMed  Google Scholar 

  424. Boltshauser E, Schneider J, Kollias S, Waibel P, Weissert M. Vanishing cerebellum in myelomeningocoele. Europ J Paediatr Neurol 2002;6:109–113.

    Article  Google Scholar 

  425. Kudryk BT, Coleman JM, Murtagh FR, Arrington JA, Silbiger ML. MR imaging of an extreme case of cerebellar ectopia in a patient with Chiari II malformation. AJNR Am J Neuroradiol 1991;12:705–706.

    CAS  PubMed  Google Scholar 

  426. Chung CJ, Castillo M, Fordham L, Mukherji S, Boydston W, Hudgins R. Spinal intradural cerebellar ectopia. AJNR Am J Neuroradiol 1998;19:897–899.

    CAS  PubMed  Google Scholar 

  427. Naidich TP, McLone DG, Fulling F. The Chiari II malformation. Part IV. The hindbrain deformity. Neuroradiology 1983;25:179–197.

    Article  CAS  PubMed  Google Scholar 

  428. Muller J. Congenital malformations of the brain. In: Rosenberg RN (ed) The Clinical Neurosciences. New York: Churchill, 1983.

    Google Scholar 

  429. Snyder WE Jr, Luerssen TG, Boaz JC, Kalsbeck JE. Chiari III malformation treated with CSF diversion and delayed surgical closure. Pediatr Neurosurg 1998;29:117–120.

    Article  PubMed  Google Scholar 

  430. Chiari H. Über veränderungen des kleinhirns, des pons und der medullaoblongata infolge von congenitales hydrocephalie des grosshirns. Dtsch Akad Wiss, Wien 1896;63–71.

    Google Scholar 

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  1. Department of Pediatric Neuroradiology, G. Gaslini Children’s Research Hospital, Genoa, Italy

    Paolo Tortori-Donati MD (Head), Andrea Rossi MD (Senior Staff Neuroradiologist) & Roberta Biancheri MD, PhD (Consultant Child Neurologist)

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Tortori-Donati, P., Rossi, A., Biancheri, R. (2005). Brain Malformations. In: Pediatric Neuroradiology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-26398-5_4

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