Clinical, MRI, and pathological features of polymicrogyria in chromosome 22q11 deletion syndrome

American Journal of Medical Genetics

Volumn 127, Issue 3, 2004, Pages 313-317

  Sztriha, László ^a   Guerrini, Renzo ^b   Harding, Brian ^c   Stewart, Fiona ^d   Chelloug, Nora ^e   Johansen, Johan G ^a  

^a UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^b DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d ROYAL GROUP OF HOSPITALS TRUST   (United Kingdom)

^e LMM Laboratoire Marcel Merieux   (France)

Author keywords

22q11 deletion; Cerebral cortical malformation; Four layered polymicrogyria; Neuropathology

Indexed keywords

ARTICLE; BRAIN MALFORMATION; CARDIOVASCULAR MALFORMATION; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME DELETION; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; HISTOLOGY; HUMAN; MALE; MICROGYRIA; NEUROPATHOLOGY; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PATHOLOGY; PRIORITY JOURNAL;

EID: 2542481114     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30014     Document Type: Article

References (29)

1. Amor DJ, Leventer RJ, Hayllar S, Bankier A. 2000. Polymicrogyria associated with scalp and limb defects: Variant of Adams-Oliver syndrome. Am J Med Genet 93:328-334.
2. Barkovich AJ, Kjos BO. 1992. Nonlissencephalic cortical dysplasias: Correlation of imaging findings with clinical deficits. Am J Neuroradiol 13:95-103.
3. Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB. 2001. Classification system for malformations of cortical development. Update. Neurology 57:2168-2178.
4. Bingham PM, Zimmerman RA, McDonald-McGinn D, Driscoll D, Emanuel BS, Zackai E. 1997. Enlarged Sylvian fissures in infants with interstitial deletion of chromosome 22q11. Am J Med Genet 74:538-543.
5. Bingham PM, Lynch D, McDonald-McGinn D, Zackai E. 1998. Polymicrogyria in chromosome 22 deletion syndrome. Neurology 51:1500-1502.
6. Bird LM, Scambler P. 2000. Cortical dysgenesis in 2 patients with chromosome 22q11 deletion. Clin Genet 58:64-68.
7. Chow EWC, Zipursky RB, Mikulis DJ, Bassett AS. 2002. Structural brain abnormalities in patients with schizophrenia and 22q11 deletion syndrome. Biol Psychiatry 51:208-215.
8. Cooperstone BG, Friedman A, Kaplan BS. 1993. Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy. Am J Med Genet 47:250-254.
9. Cramer SC, Schaefer PW, Krishnamoorthy KS. 1996. Microgyria in the distribution of the middle cerebral artery in a patient with DiGeorge syndrome. J Child Neurol 11:494-496.
10. Devriendt K, Thienen MN, Swillen A, Fryns JP. 1996. Cerebellar hypoplasia in a patient with velo-cardio-facial syndrome. Dev Med Child Neurol 38:949-953.
11. Eliez S, Schmitt JE, White CD, Reiss AL. 2000. Children and adolescents with velocardiofacial syndrome: A volumetric MRI study. Am J Psychiatry 157:409-415.
12. Ferrer I, Cusi MV, Liarte A, Campistol J. 1986. A Golgi study of the polymicrogyric cortex in Aicardi syndrome. Brain Dev 8:518-525.
13. Ghariani S, Dahan K, Saint-Martin C, Kadhim H, Morsomme F, Moniotte S, Verellen-Dumoulin C, Sébire G. 2002. Polymicrogyria in chromosome 22q11 deletion syndrome. Europ J Paediatr Neurol 6:73-77.
14. Harding B, Copp AJ. 1997. Malformations. In: Graham DI, Lantos PL, editors. Greenfield's neuropathology, 6th edn. London: Arnold. pp 397-533.
15. Heather E, McDermid HE, Morrow BE. 2002. Genomic disorders on 22q11. Am J Hum Genet 70:1077-1088.
16. Kawame H, Kurosawa K, Akatsuka A, Ochiai Y, Mizuno K. 2000. Polymicrogyria is an uncommon manifestation in 22q11.2 deletion syndrome. Am J Med Genet 94:77-78.
17. Kraynack NC, Hostoffer RW, Robin NH. 1999. Agenesis of the corpus callosum associated with DiGeorge-velocardiofacial syndrome: A case report and review of the literature. J Child Neurol 14:754-756.
18. Lynch DR, McDonald-McGinn DM, Zackai EH, Emanuel BS, Driscoll DA, Whitaker LA, Fischbeck KH. 1995. Cerebellar atrophy in a patient with velocardiofacial syndrome. J Med Genet 32:561-563.
19. Mitnick RJ, Bello JA, Shprintzen RJ. 1994. Brain anomalies in velo-cardio-facial syndrome. Am J Med Genet 54:100-106.
20. Mitnick RJ, Bello JA, Golding-Kushner KJ, Argamaso RV, Shprintzen RJ. 1996. The use of magnetic resonance angiography prior to pharyngeal flap surgery in patients with velocardiofacial syndrome. Plast Reconstr Surg 97:908-919.
21. Moog U, de Die-Smulders C, Systermans JM, Cobben JM. 1997. Oculocerebrocutaneous syndrome: Report of three additional cases and aetiological considerations. Clin Genet 52:219-225.
22. Nickel RE, Pillers DA, Merkens M, Magenis RE, Driscoll DA, Emanuel BS, Zonana J. 1994. Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region. Am J Med Genet 52:445-449.
23. Piao X, Basel-Vanagaite L, Straussberg R, Grant PE, Pugh EW, Doheny K, Doan B, Hong SE, Shugart YY, Walsh CA. 2002. An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21. Am J Hum Genet 70:1028-1033.
24. Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brøndum-Nielsen K, Stewart F, Van Essen T, Patton M, Paterson J, Scambler PJ. 1997. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study. J Med Genet 34:798-804.
25. Scambler PJ. 2000. The 22q11 deletion syndromes. Hum Mol Genet 9:2421-2426.
26. Swillen A, Vogels A, Devriendt K, Fryns JP. 2000. Chromosome 22q11 deletion syndrome: Update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications. Am J Med Genet (Semin Med Genet) 97:128-135.
27. Sztriha L, Nork M. 2000. Bilateral frontoparietal polymicrogyria and epilepsy. Pediatr Neurol 22:240-243.
28. Villard L, Nguyen K, Cardoso C, Martin CL, Weiss AM, Sifry-Platt M, Grix AW, Graham JM, Winter RM, Leventer RJ, Dobyns WB. 2002. A locus for bilateral perisylvian polymicrogyria maps to Xq28. Am J Hum Genet 70:1003-1008.
29. Worthington S, Turner A, Elber J, Andrews PI. 2000. 22q11 deletion and polymicrogyria-Cause or coincidence. Clin Dysmorphol 9:193-197.