Neuroradiological and neurofunctional examinations for patients with 22q112 deletion

Neuropediatrics

Volumn 42, Issue 6, 2011, Pages 215-221

  Mori, T ^a   Mori, K ^a   Fujii, E ^a   Toda, Y ^a   Miyazaki, M ^a   Harada, M ^a   Kagami, S ^a  

^a UNIVERSITY OF TOKUSHIMA   (Japan)

Author keywords

22q11.2 deletion syndrome; 123I iomazenil SPECT; 1H MRS; agyria; brain malformation; epilepsy; polymicrogyria

Indexed keywords

4 AMINOBUTYRIC ACID; IOMAZENIL I 123;

AGYRIA; ARTICLE; CASE REPORT; CEREBRAL ARTERY DISEASE; CHILD; CHROMOSOME DELETION; CHROMOSOME DELETION 22Q11.2; ELECTROENCEPHALOGRAM; EPILEPTIC DISCHARGE; FEMALE; HUMAN; HYPOPLASIA; INTERNAL CAROTID ARTERY; MALE; MICROGYRIA; MIDDLE CEREBRAL ARTERY; NEUROLOGIC EXAMINATION; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; POSTERIOR CEREBRAL ARTERY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; RADIODIAGNOSIS; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY;

CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; DIGEORGE SYNDROME; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; FLUMAZENIL; GAMMA-AMINOBUTYRIC ACID; HUMANS; HYDROGEN; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; TOMOGRAPHY, EMISSION-COMPUTED, SINGLE-PHOTON;

EID: 83655165118     PISSN: 0174304X     EISSN: 14391899     Source Type: Journal    
DOI: 10.1055/s-0031-1295479     Document Type: Article

References (32)

1. Botto L D, May K, Fernhoff P M et al. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics: 2003; 112 101 107 (Pubitemid 36792936)
2. Choi C G, Frahm J. Localized proton MRS of the human hippocampus: metabolite concentrations and relaxation times. Magn Reson Med: 1999; 41 204 207 (Pubitemid 29068055)
3. Cramer S C, Schaefer P W, Krishnamoorthy K S. Microgyria in the distribution of the middle cerebral artery in a patient with DiGeorge syndrome. J Child Neurol: 1996; 11 494 497 (Pubitemid 26412208)
4. Gerkes E H, Hordijk R, Dijkhuizen T et al. Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion. Eur J Med Genet: 2010; 53 344 346
5. Harada M, Miyoshi H, Uno M et al. Neuronal impairment of adult moyamoya disease detected by quantified proton MRS and comparison with cerebral perfusion by SPECT with Tc-99m HM-PAO: a trial of clinical quantification of metabolites. J Magn Reson Imaging: 1999; 10 124 129 (Pubitemid 29362425)
6. th edn. London Arnold: 1997; 397 533
7. Hauser W A. Epidemiology of epilepsy in children. In: Pellock J M, Dodson W E, Bourgeois B. editors. Pediatric epilepsy diagnosis and therapy. New York Demos Medical Publishing, Inc.: 2001; 81 96
8. Hirose S, Okada M, Kaneko S et al. Are some idiopathic epilepsies disorders of ion channels? A working hypothesis. Epilepsy Res: 2000; 41 191 204 (Pubitemid 30658042)
9. Jecobs K, Kharazia V, Prince D. Mechanisms underlying epileptogenesis in cortical malformation. Epilepsy Res: 1999; 36 165 188 (Pubitemid 29457579)
10. Kaminaga T, Kobayashi M, Abe T. Proton magnetic resonance spectroscopy in disturbances of cortical development. Neuroradiology: 2001; 43 575 580 (Pubitemid 32677194)
11. Kao A, Mariani J, McDonald-McGinn D M et al. Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion. Am J Med Genet A: 2004; 129 29 34 (Pubitemid 38989040)
12. Kawame H, Kurosawa K, Akatsuka A et al. Polymicrogyria is an uncommon manifestation in 22q11.2 deletion syndrome. Am J Med Genet: 2000; 94 77 78 (Pubitemid 30629362)
13. Kobrynski L J, Sullivan K E. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet: 2007; 370 1443 1452 (Pubitemid 47576169)
14. Kuzniecky R, Hetherington H, Pan J et al. Proton spectroscopic imaging at 4.1 tesla in patients with malformations of cortical development and epilepsy. Neurology: 1997; 48 1018 1024
15. Li L M, Cendes F, Bastos A C et al. Neuronal metabolic dysfunction in patients with cortical developmental malformations: a proton magnetic resonance spectroscopic imaging study. Neurology: 1998; 50 755 759
16. Lindsay E A, Vitelli F, Su H et al. Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice. Nature: 2001; 410 97 101 (Pubitemid 32225843)
17. McDonald-McGinn D M, Tonnesen M K, Laufer-Cahana A et al. Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! Genet Med: 2001; 3 23 29
18. McDonald-McGinn D M, Kirschner R, Goldmuntz E et al. The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns: 1999; 10 11 24 (Pubitemid 29121796)
19. McDonald-McGinn D M, Gripp K W, Kirschner R E et al. Craniosynostosis: another feature of the 22q11.2 deletion syndrome. Am J Med Genet A: 2005; 136 358 362 (Pubitemid 41076588)
20. Mescher M, Tannus A, Johnson M O et al. Solvent suppression using selective echo dephasing. J Magn Reson Series A: 1996; 123 226 229 (Pubitemid 126752021)
21. Mescher M, Merkle H, Kirsch J et al. Simultaneous in vivo spectral editing and water suppression. NMR Biomed: 1998; 11 266 272 (Pubitemid 28465190)
22. Morimoto K, Tamagami H, Matsuda K. Central-type benzodiazepine receptors and epileptogenesis: basic mechanisms and clinical validity. Epilepsia: 2005; 46 05 184 188 (Pubitemid 40962143)
23. z G, Terpstra M, Tk I et al. Proton MRS of the unilateral substantia nigra in the human brain at 4 tesla: detection of high GABA concentrations. Magn Reson Med: 2006; 55 296 301 (Pubitemid 43238097)
24. Marcorelles P, Laquerrire A, Adde-Michel C et al. Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes. Acta Neuropathol: 2010; 120 503 515
25. Robin N H, Taylor C J, McDonald-McGinn D M et al. Polymicrogyria and deletion 22q11.2 syndrome:window to the etiology of a common cortical malformation. Am J Med Genet A: 2006; 140 2416 2425 (Pubitemid 44684936)
26. Schaer M, Glaser B, Cuadra M B et al. Congenital heart disease affects local gyrification in 22q11.2 deletion syndrome. Dev Med Child Neurol: 2009; 51 746 753
27. Simister R J, McLean M A, Barker G J et al. Proton magnetic resonance spectroscopy of malformations of cortical development causing epilepsy. Epilepsy Res: 2007; 74 107 115 (Pubitemid 46667222)
28. Sullivan K E, Jawad A F, Randall P et al. Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes (DiGeorge syndrome/velocardiofacial syndrome). Clin Immunol Immunopathol: 1998; 86 141 146 (Pubitemid 28081550)
29. Terpstra M, Henry P G, Gruetter R. Measurement of reduced glutathione (GSH) in human brain using LCModel analysis of difference-edited spectra. Magn Reson Med: 2003; 50 19 23 (Pubitemid 36841855)
30. Woermann F G, McLean M A, Bartlett P A et al. Quantitative short echo time proton magnetic resonance spectroscopic imaging study of malformations of cortical development causing epilepsy. Brain: 2001; 124 427 436 (Pubitemid 32142414)
31. Yagi H, Furutani Y, Hamada H et al. Role of TBX1 in human del22q11.2 syndrome. Lancet: 2003; 362 1366 1373 (Pubitemid 37338337)
32. Yamamoto T, Sameshima K, Sekido K et al. Trigonocephaly in a boy with paternally inherited deletion 22q11.2 syndrome. Am J Med Genet A: 2006; 140 1302 1304 (Pubitemid 43835417)