Malformations of the posterior fossa: Current perspectives

Seminars in Pediatric Neurology

Volumn 9, Issue 4, 2002, Pages 320-334

  Niesen, Charles E ^a  

^a CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN DEVELOPMENT; BRAIN FUNCTION; BRAIN GROWTH; BRAIN MALFORMATION; CEREBELLUM HYPOPLASIA; COGNITION; DANDY WALKER SYNDROME; DISEASE CLASSIFICATION; FORAMEN MAGNUM; HUMAN; HYPERTROPHY; JOUBERT SYNDROME; LANGUAGE; MOLECULAR GENETICS; ONTOGENY; POSTERIOR FOSSA MALFORMATION; REVIEW; RHOMBENCEPHALON;

EID: 0036926418     PISSN: 10719091     EISSN: None     Source Type: Journal    
DOI: 10.1053/spen.2002.32508     Document Type: Review

References (94)

1. Sarnat HB: Cerebral Dysgenesis. Embryology and Clinical Expression. New York, NY, Oxford University Press. 1992
2. Altman NR, Naidich, TP, Braffman BH: Posterior fossa malformations. Am J Neuroradiol 13:691-724, 1992
3. Peach B: Arnold-Chiari malformation: Anatomic features of 20 cases. Arch Neurol 12:613-621, 1965
4. Hart MN, Malamud M, Ellis WG: The Dandy-Walker syndrome: A clinicopathological study based on 28 cases. Neurology 22:771-780, 1972
5. Goldowitz D, Hamre K: The cells and molecules that make a cerebellum. Trends Neurosci 21:375-382, 1995
6. Schneider-Maunoury S, Gilardi-Hebenstreit P, Charnay P: How to build a vertebrate hindbrain: Lessons from genetics. CR Acad Sci (Paris) 321:819-834, 1998
7. Hatten ME, Heintz N: Mechanisms of neural patterning specification in the developing cerebellum, Annu Rev Neurosci 18:385-408, 1995
8. Hattern ME, Alder J, Qimmerman J, et al: Genes involved in cerebellar cell specification and differentiation. Curr Opin Neurobiol 7:40-47, 1997
9. Boltshauser E: Cerebellar imaging - An important signpost in paediatric neurology. Childs Nerv Syst 17:211-216, 2001
10. Barkovich AJ: Pediatric Neuroimaging (Ed 3). Lippincott Williams & Wilkins, Philadelphia, PA, 2000
11. Schmahmann JD: An emerging concept - The cerebellar contribution to higher function. Arch Neurol 48:1178-1187, 1991.
12. Courchesne E, Yeung-Courchesne R, Press GA, et al: Hypoplasia of cerebellar vermal lobules VI and VII in autism. N Engl J Med 318:1349-1354, 1988
13. van Dongen HR, Catsman-Berrevoets CE, van Mourik M: The syndrome of cerebellar mutism and subsequent dysarthria. Neurology 44:2040-2046, 1994
14. Loeser JD, Lemire RJ, Alvord EC: The development of the folia in the human cerebellar vermis. Anat Rec 173:109-114, 1972
15. Guthrie S: Patterning the hindbrain. Curr Opin Neurobiol 6:41-48, 1996
16. Joyner A: Engrailed. Wnt and Pax genes regulate midbrain-hindbrain development. Trends Genet 12:12-20, 1996
17. Salinas PC, Fletcher C. Copeland NG, et al: Maintenance of Wnt3 expression in Purkinje cells of the mouse cerebellum depends on interaction with granule cells. Development 120: 1277-1286, 1994
18. Cùrran, D'Arcangelo G: Role of reelin in the control of brain development. Brain Res Rev 26:285-294, 1998
19. Sarnat HB: Congenital malformations of the nervous system. Neuroimaging Clin North Am 11:57-77, 2001
20. Barkovitch AJ, Kuzniecky RI, Dobyns WB: Radiologic classification of malformations of cortical development. Curr Opin Neurol 14:145-149, 2001
21. Cai C, Oakes WJ: Hindbrain herniation syndromes: The Chiari malformations (I and II). Sem Ped Neurol 4:179-191, 1997
22. Cleland J: Contribution to the study of spina bifida, encephalocele, and anencephalus. J Anat Physiol 17:257-292, 1883
23. Chiari H: Über veränderugen des kleinhirns infolge von hydrocephalie des grosshims. Dtsch Med Wochenschr 17: 1172-1175, 1891
24. Chiari H: Über die veranderungen des kleinhirns des pons und der medulla oblongata in folge von congenitaler hydrocephalie des grosshirns. Denkschrift Akad Wissenschaften in Wien 63:71-116, 1896
25. Pascual J, Oterino A, Berciano J: Headache in type I Chiari malformation. Neurology 42:1519-1521, 1992
26. Nohria V, Oakes WJ: Chiari I malformation: A review of 43 patients. Pediatr Neurosurg 16:222-227, 1990
27. Gardner WJ: Anatomic features common to the Arnold-Chiari and Dandy-Walker malformations suggest a common origin. Clevel Clin Q 26:206-222, 1959
28. Marin-Padilla M, Marin-Padilla MT: Morphogenesis of experimentally induced Arnold-Chiari malformation. J Neurosci 50:29-55, 1981
29. Raybaud C: Cystic malformations of the posterior fossa: Abnormalities associated with development of the roof of the fourth ventricle and adjoint meningeal structures. J Neuroradiol 9:103-133, 1982
30. Dandy WE, Blackfan KD: Internal hydrocephalus: An experimental, clinical and pathological study. Am J Dis Child 8:406-482, 1914
31. Taggart TK, Walker AE: Congenital atresia of the foramina of Luschka and Magendie. Arch Neurol Psychiatry 48:583-612, 1942
32. Benda CE: The Dandy-Walker syndrome of the so-called atresia of the foramen of Magendie. J Neuropathol Exp Neurol 13:14-29, 1954
33. Osenbach RK, Menezez AH: Diagnosis and management of the Dandy-Walker malformation: 30 Years experience. Pediatr Neurosurg 18:179-189, 1992
34. Maria BL, Zinreich SJ, Carson BC, et al: Dandy-Walker syndrome revisited. Pediatr Neurosci 13:38-44, 1987
35. Joubert M, Eisenring JJ, Robb JF, et al: Familial agenesis of the cerebellar vermis: A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 19:813-825, 1969
36. Maria BL, Quisling RG, Rosainz LC, et al: Molar tooth sign in Joubert syndrome: Clinical, radiologic, and pathologic significance. J Child Neurol 14:368-376, 1999
37. Raynes HR, Shanske A, Goldberg S, et al: Joubert syndrome: Monozygotic twins with discordant phenotypes. J Child Neurol 14:649-654, 1999
38. Maria BL, Hoang KB, Tusa RJ, et al: Joubert syndrome revisited: Key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol 12:423-430, 1997
39. Friede RL: Uncommon syndromes of cerebellar vermis aplasia II. Tectocerebellar dysraphism with occipital encephalocele. Dev Med Child Neurol 20:764-772, 1978
40. Bordarier C, Aicardi J: Dandy-Walker syndrome and agenesis of the cerebellar vermis: Diagnostic problems and genetic counseling. Dev Med Child Neurol 32:285-294, 1990
41. Jaeken J, Van Den Berghe G: An infantile autistic syndrome characterized by the presence of succinyl purines in body fluids. Lancet 2:1058-1061, 1984
42. Harris CM, Hodgkins PR, Kriss A, et al: Familial congenital saccade initiation failure and isolated cerebellar vermis hypoplasia. Dev Med Child Neurol 40:775-779, 1998
43. Valmaggia C, Gottlob I: Periodic alternating nystagmus in two children with a similar, unusal phenotype. Pediatr Neurol 23:432-435, 2000
44. Jan JE, Kearney S, Groenveld M, et al: Speech, cognition and imaging studies in congenital ocular motor apraxia. Dev Med Child Neurol 40:95-99, 1998
45. Guerreiro MM, Camargo EE, Kato M, et al: Fragile X syndrome: Clinical, electroencephalographic and neuroimaging characteractistics. Argo Neuro Pisquit 56:18-23, 1998
46. Sabaratnem M: Pathological and neuropathological findings in two males with fragile X syndrome. J Intell Disabl Res 44:81-85, 2000
47. Obersteiner H: Ein kleinhirn ohae wurn. Arb Neurl Inst (Wien) 21:124-136, 1914
48. Truwit CL, Barkovich AJ, Shanahan R. et al: MR imaging of rhomboencephalosynapsis: Report of three cases and review of the literature. Am J Neuroradiol 12:957-965, 1991
49. Glickstein M: Cerebellar agenesis. Brain 117:1209-1212, 1994
50. Robain O, Dulac O, Lejeune J: Cerebellar hemispheric agenesis. Acta Neuropathol 74:202-206, 1987
51. Strefling AM, Urich H: Crossed cerebellar atrophy: An old problem revisited. Acta Neuropathol 2:164-177, 1943
52. Ramaekers VT, Heiman G, Reul J, et al: Genetic disorders and cerebellar structural abnormalities in childhood. Brain 120:1739-1751, 1997
53. Sarnat HB, Alcala H: Human cerebellar hypoplasia: A syndrome of diverse causes. Arch Neurol 37:300-305, 1980
54. Lesny I: Symmetrical hypogenesis of the cerebellum. Acta Neurol Scand 46:642-647, 1970
55. Mathews KD, Afifi AK, Hanson JW: Autosomal recessive cerebellar hypoplasia. J Child Neurol 4:189-193, 1989
56. Illarioshkin SN, Tanaka H, Markova ED, et al: X-linked non-progressive congenital cerebellar hypoplasia: Clinical description and mapping to chromosome Xq. Ann Neurol 40:75-83, 1996
57. Wichman A, Frank LM, Kelly TE: Autosomal recessive congenital cerebellar hypoplasia. Clin Genet 27:373-382, 1985
58. Norman RM: Primary degeneration of the granular layer of the cerebellum: An unusual form of familial cerebellar atrophy occurring early in life. Brain 63:365-379, 1940
59. Jervis GA: Early familial cerebellar degeneration. J Nerv Ment Dis 111:398-407, 1950
60. Mahmood F, King MD, Smyth OP, et al: Familial cerebellar hypoplasia and pancytopenia without chromosomal breakages. Neuropediatrics 29:302, 1998
61. Jaeken J, Carchon H: The carbohydrate-deficient syndrome: An overview. J Inherit Metab Dis 16:813-820, 1993
62. Shevell MI, Majnemer A: Clinical features of developmental disability associated with cerebellar hypoplasia. Pediatr Neurol 15:224-229, 1996
63. Steinlin M, Zangger B, Bolthauser E: Non-progressive congenital ataxia with or without cerebellar hypoplasia: A review of 34 subjects. Dev Med Child Neurol 40:148-154, 1998
64. Gullotta F, Rehder H, Gropp A: Descriptive neuropathology of chromosomal disorders in man. Hum Genet 57:337-344, 1981
65. Norman RM: Neuropathologic findings in trisomies 13-15 and 17-18 with special reference to the cerebellum. Dev Med Child Neurol 8:170-1277, 1966
66. Inagaki M, Ando Y, Mito T: Comparison of brain imaging and neuropathology in trisomy 18 and 13. Neuroradiology 29:474-479, 1987
67. Becker LE, Armstrong DL, Chan F: Dendritic atrophy in children with Down syndrome. Ann Neurol 20:520-526, 1986
68. Jaeken J, van Eijk HG, van der Heil C, et al: Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome. Clin Chim Acta 144:245-247, 1984
69. van Ommen CH, Peters M, Barth PG, et al: Carbohydrate-deficient glycoprotein syndrome type IA: A variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbance. J Pediatr 136:400-403, 2000
70. Flores-Sarnat L, Sarnat HB: Hemimegalencephaly, Part 1. J Child Neurol 17:373-384, 2002
71. Cole TRP, Hughes HE: Sotos syndrome. J Med Genet 27:571-576, 1990
72. Sutphen R, Diamond TM, Minton SE, et al: Severe Lhermitte-Duclos disease with unique germline mutation of PTEN. Am J Med Genet 82:290-293, 1999
73. de Leon GA, Grant JA, Darling CF: Monstrous crablike hypertrophy of the cerebellar vermis and its relationship with Lhermitte-Duclos disease. J Neurosurg 85:157-162, 1996
74. Boltshauser E, Steinlin M, Martin E, et al: Unilateral cerebellar aplasia. Neuropediatrics 27:50-53, 1996
75. Robinson RO, Trounce JQ, Janota I, et al: Late fetal pontine destruction. Pediatr Neurol 9:213-215, 1993
76. Sarnat HB, Benjamin DR, Siebert JR, et al: 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 5:54-68, 2002
77. Brower B: Hypoplasia pontocerebellaris. Psychiatr Neurol Bladen 6:461-469, 1924
78. Koster S: Two cases of hypoplasia ponto-neocerebellaris. Acta Psychiatr Neurol 1:47-83, 1926
79. Barth PG: Pontocerebellar hypoplasias: An overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev 15:411-422, 1993
80. Norman RM: Cerebellar hypoplasia in Werdnig-Hoffmann disease. Arch Dis Child 36:96-101, 1961
81. Peiffer J, Pfeiffer RA: Hypoplasia ponto-neocerebellaris. J Neurol 215:241-251, 1977
82. Albrecht S, Schneider MC, Belmont J, et al: Fatal infantile encephalopathy with olivopontocerebellar hypoplasia and microencephaly. Acta Neuropathol 85:394-399, 1993
83. Park SH, Becker-Catonia S, Gatti RA, et al: Congenital olivopontocerebellar atrophy - Report of two siblings with paleo and neocerebellar atrophy. Acta Neuropathol 96:315-321, 1998
84. de Koning TJ, de Vries LS, Groenendaal F, et al: Pontocerebellar hypoplasia associated with respiratory chain defects. Neuropediatrics 30:93-95, 1999
85. Pittella JEH, Nogueira AM: Pontoneocerebellar hypoplasia: Report of a case in a newborn and review of the literature. Neuropathology 9:33-38, 1990
86. Steinlin M, Blaser S, Bolthauser E: Cerebellar involvement in metabolic disorders: A pattern - Recognition approach. Neuroradiology 40:347-354, 1998
87. Appurkuttan B, Gillanders E, Juo SH, et al: Localization of a gene for Duane retrraction syndeome to chromosome 2q31. Am J Hum Genet 65:1639-1646, 1999
88. Cabot A, Rozet JM, Gerber, et al: A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp.4-p1.3. Am J Hum Genet 64:1141-1146, 1999
89. Richter RB: Unilateral congenial hypoplasia of the facial nucleus. J Neuropathol Exp Neurol 19:33-41, 1966
90. D'Cruz OF, Swisher CN, Jaradeh S, et al: Mobius syndrome: Evidence for a vascular etiology. J Child Neurol 8:26-265, 1993
91. Fiez JA: Cerebellar contribution to cognition. Neuron 16:13-15, 1996
92. Ciesielski KT, Yanofsky R, Ludwig RN, et al: Hypoplasia of the cerebellar vermis and cognitive deficits in survivors of childhood leukemia. Arch Neurol 51:985-993, 1994
93. Malm J, Kristensen B, Karlsson T, et al: Cognitive impairment in young adults with infratentorial infarcts. Neurology 51:433-440, 1998
94. Molinari M, Leggio MG, Solida A, et al: Cerebellum and procedural learning: Evidence from focal cerebellar lesions. Brain 120:1753-1762, 1997