Neurodevelopmental outcomes in children with cerebellar malformations: A systematic review

Developmental Medicine and Child Neurology

Volumn 51, Issue 4, 2009, Pages 256-267

  Bolduc, Marie Eve ^a   Limperopoulos, Catherine ^a,b  

^a MCGILL UNIVERSITY   (Canada)

^b MONTREAL CHILDREN S HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADVERSE OUTCOME; BRAIN DEVELOPMENT; BRAIN MALFORMATION; BRAIN VENTRICLE DILATATION; CAUSAL ATTRIBUTION; CEREBELLUM AGENESIS; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; CHILD; CHILD DEVELOPMENT; CISTERNA MAGNA; COGNITIVE DEFECT; COMMUNICATION DISORDER; CORPUS CALLOSUM AGENESIS; DANDY WALKER SYNDROME; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; EYE MOVEMENT DISORDER; FUNCTIONAL STATUS; HUMAN; JOUBERT SYNDROME; LANGUAGE DISABILITY; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEUROPATHOLOGY; PONS ANGLE; PRIORITY JOURNAL; REVIEW; RHOMBENCEPHALOSYNAPSIS; SYSTEMATIC REVIEW;

CEREBELLAR DISEASES; CEREBELLUM; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; PREGNANCY; RETROSPECTIVE STUDIES;

EID: 63049083462     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2008.03224.x     Document Type: Review

References (71)

1. Boltshauser E. Cerebellum-small brain but large confusion: A review of selected cerebellar malformations and disruptions. Am J Med Genet 2004; 126A:376-85.
2. Sandalcioglu IE, Gasser T, van de Nes JAP, Menken U, Stolke D, Wiedemayer H. Fusion of the cerebellar hemispheres ventral to the brainstem: A rare hindbrain-related malformation. Childs Nerv Syst 2006; 22:73-77.
3. Metropolitan Atlanta Congenital Defects Program, 2005.
4. Ecker JL, Shipp TD, Bromley B, Benacerraf B. The sonographic diagnosis of Dandy-Walker and Dandy-Walker variant: Associated findings and outcomes. Prenat Diag 2000; 20:328-32.
5. Forzano F, Mansour S, Ierrullo A, Homfray T, Thilaganathan B. Posterior fossa malformation in fetuses: A report of 56 further cases and a review of the literature. Prenat Diag 2007; 27:495-501.
6. Steinlin M, Styger M, Boltshauser E. Cognitive impairments in patients with congenital nonprogressive cerebellar ataxia. Neurology 1999; 53:966-73.
7. Middleton FA, Strick PL. Cerebellar projections to the prefrontal cortex of the primate. J Neurosci 2001; 21:700-12.
8. Tamada T, Miyauchi S, Imamizu H, Yoshioka T, Kawato M. Cerebro-cerebellar functional connectivity revealed by the laterality index in tool-use learning. Neuroreport 1999; 10:325-31.
9. Schmahmann JD, Pandya DN. The cerebrocerebellar system. Int Rev Neurobiol 1997; 41:31-60.
10. Schmahmann JD, Sherman JC. The cerebellar cognitive affective syndrome. Brain Dev 1998; 121:561-79.
11. Schmahmann JD. Disorders of the cerebellum: Ataxia, dysmetria of thought, and the cerebellar cognitive affective syndrome. J Neuropsychiatry Clin Neurosci 2004; 16:367-78.
12. Schmahmann JD, Weilburg JB, Sherman JC. The neuropsychiatry of the cerebellum -insights from the clinic. Cerebellum 2007; 6:254-67.
13. Gordon N. The cerebellum and cognition. Eur J Paediatr Neurol 2007; 11:232-34.
14. Barkovich AJ. Pediatric neuroimaging. Fourth edn. Philadelphia: Lippincott Williams & Wilkins, 2005.
15. Barkovich AJ, Kjos BO, Norman D, Edwards MS. Revised classification of posterior fossa cysts and cystlike malformations based on results of multiplanar MR imaging. Am J Neuroradiol 1989; 10:977-88.
16. Parisi MA, Dobyns WB. Human malformations of the midbrain and hindbrain: review and proposed classification scheme. Mol Genet Metab 2003; 80:36-53.
17. Boddaert N, Klein O, Ferguson N, et al. Intellectual prognosis of the Dandy-Walker malformation in children: The importance of vermian lobulation. Neuroradiology 2003; 45:320-24.
18. Kumar R, Jain MK, Chhabra DK. Dandy-Walker syndrome: Different modalities of treatment and outcome in 42 cases. Childs Nerv Syst 2001; 17:348-52.
19. Aletebi F, Fung K. Neurodevelopmental outcome after antenatal diagnosis of posterior fossa abnormalities. J Ultrasound Med 1999; 18:683-89.
20. Klein O, Pierre-Kahn A, Boddaert N, Parisot D, Brunelle F. Dandy-Walker malformation: Prenatal diagnosis and prognosis. Childs Nerv Syst 2003; 19:484-89.
21. Kölble N, Wisser J, Kurmanavicius J, et al. Dandy-Walker malformation: Prenatal diagnosis and outcome. Prenat Diag 2000; 20:318-27.
22. Has R, Ermis H, Yüksel A, et al. Dandy-Walker malformation: A review of 78 cases diagnosed by prenatal sonography. Fetal Diagn Ther 2004; 19:342-47.
23. Poot M, Kroes H, vd Wijst SE, et al. Dandy-Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33). Am J Med Genet 2007; 143a:1038-44.
24. Abdel-Salam GMH, Shehab M, Zaki MS. Isolated Dandy-Walker malformation associated with brain stem dysgenesis in male sibs. Brain Dev 2006; 28:529-33.
25. Long A, Moran P, Robson S. Outcome of fetal cerebral posterior fossa anomalies. Prenat Diag 2006; 26:707-10.
26. Limperopoulos C, Robertson RL, Estroff JA, et al. Diagnosis of inferior vermian hypoplasia by fetal magnetic resonance imaging: Potential pitfalls and neurodevelopmental outcome. Am J Obstet Gynecol 2006; 194:1070-76.
27. Haimovici JA, Doubilet PM, Benson CB, Frates MC. Clinical significance of isolated enlargement of the cisterna magna (>10mm) on prenatal sonography. J Ultrasound Med 1997; 16:731-34.
28. Zimmer EZ, Lowenstein L, Bronshtein M, Goldsher D, Aharon-Peretz J. Clinical significance of isolated mega cisterna magna. Arch Gynecol Obstet 2007; 276:487-490.
29. 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; 16:751-58.
30. Kumandas S, Akcakus M, Coskun A, Gumus H. Joubert syndrome: Review and report of seven new cases. Eur J Neurol 2004; 11:505-10.
31. Valente EM, Brancati F, Silhavy JL, et al. AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol 2006; 59:527-34.
32. Fennell EB, Gitten JC, Dede DE, Maria BL. Cognition, behavior, and development in Joubert syndrome. J Child Neurol 1999; 14:592-96.
33. Maria BL, Quisling RG, Rosainz LC, et al. Molar tooth sign in Joubert syndrome: Clinical, radiologic, and pathologic significance. J Child Neurol 1999; 14:368-76.
34. Romano S, Boddaert N, Desguerre I, et al. Molar tooth sign and superior vermian dysplasia: A radiological, clinical and genetic study. Neuropediatrics 2006; 37:42-45.
35. Gitten J, Dede D, Fennell E, Quisling R, Maria BL. Neurobehavioral development in Joubert syndrome. J Child Neurol 1998; 13:391-97.
36. Kumar J, Kumar A, Saha S. The molar tooth sign of Joubert syndrome. Arch Neurol 2007; 64:602-3.
37. Hodgkins PR, Harris CM, Shawkat FS, et al. Joubert syndrome: Long-term follow-up. Dev Med Child Neurol 2004; 46:694-99.
38. Torres M, Buceta M, Cajide M. Development of a child with Joubert syndrome. Span J Psychol 2001; 4:72-78.
39. Ray J, Majumder AG, Das D, Mukhopadhyay D, Mondol S. Joubert syndrome: A major brain malformation. J Indian Med Assoc 2007; 105:392-94.
40. Steinlin M, Schmid M, Landau K, Bolthauser E. Follow-up in children with Joubert syndrome. Neuropediatrics 1997; 28:204-11.
41. Braddock BA, Farmer JE, Iverson JM, Maria BL. Oromotor and communication findings in Joubert syndrome: Further evidence of multisystem apraxia. J Child Neurol 2006; 21:160-73.
42. Chemli J, Abroug M, Tlili K, Harbi A. Rhombencephalosynapsis diagnosed in childhood: Clinical and MRI findings. Eur J Pediatr Surg 2007; 11:35-38.
43. Toelle SP, Yalcinkaya C, Nocer N, et al. Rhombencephalosynapsis: clinical findings and neuroimaging in 9 children. Neuropediatrics 2002; 33:209-14.
44. Utsunomiya H, Takano K, Ogasawara T, Hashimoto T, Fukushima T, Okazaki M. Rhombencephalosynapsis: Cerebellar embryogenesis. Am J Neuroradiol 1998; 19:547-49.
45. Aydingoz U, Cila A, Aktan G. Rhombencephalosynapsis associated with hand anomalies. Br J Radiol 1997; 70:764-66.
46. Danon O, Elmaleh M, Boutakobza B, Fohlen M, Hadjnacer K, Hassan M. Rhombencephalosynapsis diagnosed in childhood: Clinical and MRI findings. Magn Reson Imaging 2000; 18:99-101.
47. Jellinger KA. Rhombencephalosynapsis. Acta Neuropathol 2002; 103:305-6.
48. Odemis E, Cakir M, Aynaci FM. Rhombencephalosynapsis associated with cutaneous pretibial hemangioma in an infant. J Child Neurol 2003; 18:225-28.
49. ten Donkelaar H, Lammens M, Thijssen HOM, Renier WO. Development and developmental disorders of the human cerebellum. J Neurol 2003; 250:1025-36.
50. Patel S, Barkovich AJ. Analysis and classification of cerebellar malformations. Am J Neuroradiol 2002; 23:1074-87.
51. Soto-Ares G, Delmaire C, Deries B, Vallee L, Pruvo JP. Cerebellar cortical dysplasia: MR findings in complex entity. Am J Neuroradiol 2000; 21:1511-19.
52. Wassmer E, Davies P, Whitehouse WP, Green SH. Clinical spectrum associated with cerebellar hypoplasia. Pediatr Neurol 2003; 28:347-51.
53. Yapici Z, Eraksoy M. Non-progressive congenital ataxia with cerebellar hypoplasia in three families. Acta Paediatr 2005; 94:248-53.
54. Tavano A, Grasso R, Gagliardi C, et al. Disorders of cognitive and affective development in cerebellar malformations. Brain 2007; 130:2646-60.
55. McCollom D, Rashidian J. Prenatal diagnosis of unilateral cerebellar hypoplasia. J Diagn Med Sonography. 2003; 19:120-23.
56. Ventura P, Presicci A, Perniola T, Campa MG, Margari L. Mental retardation and epilepsy in patients with isolated cerebellar hypoplasia. J Child Neurol 2006; 21:776-81.
57. Tavano A, Fabbro F, Borgatti R. Language and social communication in children with cerebellar dysgenesis. Folia Phoniatr Logop 2007; 59:201-9.
58. Bruck I, Antoniuk SA, De Carvalho Neto A. Cerebellar vermis hypoplasia -non-progressive congenital ataxia. Arq Neuropsiquiatr 2000; 58:897-900.
59. Koutsouraki E, Markou E, Karlovasitou A, Costa V, Baloyannis S. Clinical case: Vermis hypoplasia with features of Smith-Lemli-Optiz syndrome. Int J Neurosci 2007; 117:443-51.
60. Steinlin M, Klein A, Haas-Lude K, et al. Pontocerebellar hypoplasia type 2: Variability in clinical and imaging findings. Eur J Neurol 2007; 11:146-52.
61. Barth PG. Pontocerebellar hypoplasia -how many types ? Eur J Paediatr Neurol 2000; 4:161-62.
62. Barth PG, Aronica E, de Vries L, et al. Pontocerebellar hypoplasia type 2: A neuropathological update. Acta Neuropathol 2007; 114:373-86.
63. Dilber E, Aynaci FM, Ahmetoglu A. Pontocerebellar hypoplasia in two siblings with dysmorphic features. J Child Neurol 2002; 17:64-66.
64. Coppola G, Muras I, Pascotto A. Pontocerebellar hypoplasia type 2 (PCH2): Report of two siblings. Brain Dev 2000; 22:188-92.
65. Sans-Fito A, Campistol-Plana J, Mas-Salguero MJ, Poo-Arguelles P, Fernandez-Alvarez E. Pontocerebellar hypoplasia type 2 and Reye-like syndrome. J Child Neurol 2002; 17:132-34.
66. Velioglu SK, Kuzeyli K, Ozmenoglu M. Cerebellar agenesis: A case report with clinical and MR imaging findings and a review of the literature. Eur J Neurol 1998; 5:503-6.
67. Titomanlio L, Romano A, Del Giudice E. Cerebellar agenesis. Neurology 2005; 64:E21.
68. Gardner RJM, Coleman LT, Mitchell LA, et al. Near-total absence of the cerebellum. Neuropediatrics. 2001; 32:62-68.
69. Limperopoulos C, du Plessis AJ. Disorders of cerebellar growth and development. Curr Opin Pediatr 2006; 18:621-27.
70. Limperopoulos C, Robertson RLJ, Khwaja OS, et al. How accurately does current fetal imaging identify posterior fossa anomalies? Am J Roentgenol 2008; 190:1637-43.
71. Chugani HT, Muller R-A, Chugani DC. Functional brain reorganization in children. Brain Dev 1996; 18:347-56.