Malformations of the midbrain and hindbrain: A retrospective study and review of the literature

Cerebellum

Volumn 8, Issue 3, 2009, Pages 355-365

  Alkan, Ozlem ^a   Kizilkilic, Osman ^b   Yildirim, Tulin ^a  

^a BASKENT UNIVERSITY   (Turkey)

^b ISTANBUL UNIVERSITY   (Turkey)

Author keywords

Cerebellum; Hindbrain; Magnetic resonance imaging; Malformation; Midbrain

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BRAIN MALFORMATION; CEREBELLUM DISEASE; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; CHILD; CLINICAL ARTICLE; CONSANGUINITY; DANDY WALKER SYNDROME; EMBRYOLOGY; FEMALE; FETUS; FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; GENETIC COUNSELING; HUMAN; INFANT; MALE; MENTAL DEFICIENCY; MESENCEPHALON MALFORMATION; MOLAR TOOTH; MOTOR DYSFUNCTION; NEWBORN; POSTERIOR FOSSA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; RECURRENCE RISK; RETROSPECTIVE STUDY; RHOMBENCEPHALON MALFORMATION; RHOMBENCEPHALOSYNAPSIS; SCHOOL CHILD; TOOTH MALFORMATION;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CONGENITAL ABNORMALITIES; FEMALE; FETUS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MESENCEPHALON; RETROSPECTIVE STUDIES; RHOMBENCEPHALON; TOMOGRAPHY SCANNERS, X-RAY COMPUTED; YOUNG ADULT;

EID: 69549120015     PISSN: 14734222     EISSN: 14734230     Source Type: Journal    
DOI: 10.1007/s12311-009-0104-x     Document Type: Article

References (50)

1. P Demaerel 2002 Abnormalities of cerebellar foliation and fissuration: classification, neurogenetics and clinicoradiological correlations Neuroradiology 44 639 646
2. G Soto-Ares B Joyes MP Lemaitre L Vallee JP Pruvo 2003 MRI in children with mental retardation Pediatr Radiol 33 334 345
3. S Patel AJ Barkovich 2002 Analysis and classification of cerebellar malformations Am J Neuroradiol 23 1074 1087
4. HB Sarnat L Flores-Sarnat 2003 Etiological classification of CNS malformations: integration of molecular genetics and morphological criteria Epileptic Disord 5 Suppl 2 S35 S43
5. MA Parisi WB Dobyns 2003 Human malformations of the midbrain and hindbrain: review and proposed classification scheme Mol Genet Metab 80 36 53
6. VY Wang HY Zoghbi 2001 Genetic regulation of cerebellar development Nat Rev Neurosci 2 484 491
7. KJ Millen JH Millonig RJ Wingate J Alder ME Hatten 1999 Neurogenetics of the cerebellar system J Child Neurol 14 574 581
8. ME Hallonet MA Teillet NM Le Douarin 1990 A new approach to the development of the cerebellum provided by the quail-chick marker system Development 108 19 31
9. ME Hallonet NM Le Douarin 1993 Tracing neuroepithelial cells of the mesencephalic and metencephalic alar plates during cerebellar ontogeny in quail-chick chimaeras Eur J Neurosci 5 1145 1155
10. AL Joyner 1996 Engrailed, Wnt and Pax genes regulate midbrain-hindbrain development Trends Genet 12 15 20
11. T Jaspan 2008 New concepts on posterior fossa malformations Pediatr Radiol 38 409 414
12. AJ Barkovich KJ Millen WBA Dobyns 2007 Developmental classification of malformations of the brainstem Ann Neurol 62 625 639
13. P Demaerel C Morel L Lagae G Wilms 2004 Partial rhombencephalosynapsis AJNR Am J Neuroradiol 25 29 31
14. D Goldowitz K Hamre 1998 The cells and molecules that make a cerebellum Trends Neurosci 21 375 382
15. H Utsunomiya K Takano T Ogasawara T Hashimoto T Fukushima M Okazaki 1998 Rhombencephalosynapsis: cerebellar embryogenesis AJNR Am J Neuroradiol 19 547 549
16. Sidman RL, Rakic P (1982) Development of the human central nervous system. In: Haymaker W, Adams RD (eds) Histology and histopathology of the nervous system. Thomas, Springfield, III, pp 3-145
17. HB Sarnat 2000 Molecular genetics classification of central nervous system malformations J Child Neurol 15 675 687
18. T Nagai J Aruga S Takada T Gunther R Sporle K Schughart K Mikoshiba 1997 The expression of the mouse Zic1, Zic2, and Zic3 gene suggests an essential role for Zic genes in body pattern formation Dev Biol 182 299 313
19. F Muntoni M Brockington DJ Blake S Torelli SC Brown 2002 Defective glycosylation in muscular dystrophy Lancet 360 1419 1421
20. T Toda M Segawa Y Nomura, et al. 1993 Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33 Nat Genet 5 283 286
21. K Kobayashi Y Nakahori M Miyake, et al. 1998 An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy Nature 394 388 392 (Pubitemid 28373837)
22. D Beltran-Valero de Bernabe S Currier A Steinbrecher, et al. 2002 Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome Am J Hum Genet 71 1033 1043
23. B Cormand K Avela H Pihko, et al. 1999 Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping Am J Hum Genet 64 126 135
24. M Joubert JJ Eisenring JP Robb F Andermann 1969 Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation Neurology 19 813 825
25. JG Gleeson LC Keeler MA Parisi, et al. 2004 Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes Am J Med Genet 125 125 134
26. PL Beales N Elcioglu AS Woolf D Parker FA Flinter 1999 New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey J Med Genet 36 437 446
27. CP Chen 2007 Meckel syndrome: genetics, perinatal findings, and differential diagnosis Taiwan J Obstet Gynecol 46 9 14
28. RG Quisling AJ Barkovich BL Maria 1999 Magnetic resonance imaging features and classification of central nervous system malformations in Joubert syndrome J Child Neurol 14 628 635
29. EM Valente F Brancati B Dallapiccola 2008 Genotypes and phenotypes of Joubert syndrome and related disorders Eur J Med Genet 51 1 23
30. SJ Ansley JL Badano OE Blacque, et al. 2003 Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome Nature 425 628 633
31. MI Ferrante A Zullo A Barra, et al. 2006 Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification Nat Genet 38 112 117
32. MA Parisi CL Bennett ML Eckert, et al. 2004 The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome Am J Hum Genet 75 82 91
33. EM Valente SE Marsh M Castori 2005 Distinguishing the four genetic causes of Jouberts syndrome-related disorders Ann Neurol 57 513 519
34. MN Hart N Malamud WG Ellis 1972 The Dandy-Walker syndrome. A clinicopathological study based on 28 cases Neurology 22 771 780
35. AJ Barkovich BO Kjos D Norman MS Edwards 1989 Revised classification of posterior fossa cysts and cystlike malformations based on the results of multiplanar MR imaging AJR Am J Roentgenol 153 1289 1300 (Pubitemid 20006556)
36. Raybaud C, Girard N, Sevely A, Leboucq N (1996) Neuroradiologie pediatrique (I). In: Raybaud C, Girard N, Sevely A, Leboucq N (eds) Radiodiagnostic-neuroradiologie-appariel locomoteur. Elsevier, Paris, p 26
37. Barkovich AJ (2005) Congenital malformations of the brain and skull. In: Barkovich AJ (ed) Pediatric neuroimaging, 4th edn. Lippincott Williams and Wilkins, Philadelphia, pp 291-440
38. P Tortori-Donati MP Fondelli A Rossi S Carini 1996 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 12 303 308
39. SS Rengachary I Watanabe 1981 Ultrastructure and pathogenesis of intracranial arachnoid cysts J Neuropathol Exp Neurol 40 61 83
40. K Bonnevie A Brodal 1946 Hereditary hydrocephalus in the house mouse. VI. The development of cerebellar anomalies during fetal life with notes on the normal development of the mouse cerebellum Lkr Norske Vidensk Akad Oslo 1 Matj-nat KI 4 4 60
41. MD Nelson Jr K Maher FH Gilles 2004 A different approach to cysts of the posterior fossa Pediatr Radiol 34 720 732
42. I Grinberg H Northrup H Ardinger C Prasad WB Dobyns KJ Millen 2004 Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation Nat Genet 36 1053 1055
43. N Boddaert O Klein N Ferguson, et al. 2003 Intellectual prognosis of the Dandy-Walker malformation in children: the importance of vermian lobulation Neuroradiology 45 320 324
44. MS Patel LE Becker A Toi DL Armstrong D Chitayat 2006 Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5? Am J Med Genet A 140 594 603
45. HJ Donkelaar P Wesseling M Lammens WO Renier RA Mullaart HO Thijssen 2001 Development and the developmental disorders of human brain. I. Early development of the cerebrum Ned Tijdschr Geneeskd 145 345 353 (Pubitemid 32174260)
46. VT Ramaekers G Heimann J Reul A Thron J Jaeken 1997 Genetic disorders and cerebellar structural abnormalities in childhood Brain 120 1739 1751
47. V Chizhikov KJ Millen 2003 Development and malformations of the cerebellum in mice Mol Genet Metab 80 54 65
48. G Soto-Ares C Delmaire B Deries L Vallee JP Pruvo 2000 Cerebellar cortical dysplasia: MR findings in a complex entity AJNR Am J Neuroradiol 21 1511 1519
49. G Soto-Ares L Devisme S Jorriot B Deries JP Pruvo MM Ruchoux 2002 Neuropathologic and MR imaging correlation in a neonatal case of cerebellar cortical dysplasia AJNR Am J Neuroradiol 23 1101 1104
50. L Sztriha JG Johansen 2005 Spectrum of malformations of the hindbrain (cerebellum, pons, and medulla) in a cohort of children with high rate of parental consanguinity Am J Med Genet A 135 134 141