Congenital microcephaly with a simplified gyral pattern: Associated findings and their significance

American Journal of Neuroradiology

Volumn 32, Issue 6, 2011, Pages 1123-1129

  Adachi, Yuko ^a   Poduri, A ^b   Kawaguch, A ^c   Yoon, G ^d   Salih, M A ^e   Yamashita, F ^f   Walsh, C A ^b   Barkovich, A J ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c KURUME UNIVERSITY   (Japan)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

^e KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^f National Center Hospital of Neurology and Psychiatry   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

BASAL GANGLION; BRAIN SIZE; CHILD; CORPUS CALLOSUM AGENESIS; DEMYELINATING DISEASE; DISEASE ASSOCIATION; DISEASE SEVERITY; FEMALE; HUMAN; HYPOPLASIA; IMAGE ANALYSIS; INFANT; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD REVIEW; MICROCEPHALY; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PATIENT CODING; POSTERIOR FOSSA; PRESCHOOL CHILD; RETROSPECTIVE STUDY; REVIEW; SCHOOL CHILD; WHITE MATTER;

CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MICROCEPHALY; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY;

EID: 79959309121     PISSN: 01956108     EISSN: 1936959X     Source Type: Journal    
DOI: 10.3174/ajnr.A2440     Document Type: Review

References (25)

1. Warkany J, Lemire RJ, Cohen MM Jr. Mental Retardation and Congenital Malformations of the Central Nervous System. Chicago: Yearbook; 1981:28-30
2. Berg BO. Developmental disorders of the nervous system. In: Berg BO, ed. Principles of Child Neurology. New York: McGraw-Hill; 1996:665-90
3. Mochida GH, Walsh CA. Molecular genetics of human microcephaly. Curr Opin Neurol 2001;14:151-56 (Pubitemid 32281266)
4. Passemard S, Titomanlio L, Elmaleh M, et al. Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. Neurology 2009;73:962-69
5. Desir J, Cassart M, Van Bogaert P, et al. Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally. Am J Med Genet A 2008;146A:1439-43 (Pubitemid 351770208)
6. Peiffer A, Singh N, Leppert M, et al. Microcephaly with simplified gyral pattern in six related children. Am J Med Genet 1999;84:137-44 (Pubitemid 29201080)
7. Rajab A, Mansini MC, Mochida GH, et al. A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia. Am J Med Genet 2007;143A:2761-67 (Pubitemid 350228736)
8. Hashimoto K, Takeuchi Y, Kida Y, et al. Three siblings of fatal infantile encephalopathy with olivopontocerebellar hypoplasia and microcephaly. Brain Dev 1998;20:169-74 (Pubitemid 28224712)
9. Barth PG, Blennow G, Lenard HG, et al. The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): compiled data from 10 pedigrees. Neurology 1995;45:311-17
10. Gooding CA. Radiology of the skull and brain In: Newton TH, Potts DG, eds. The Skull. Vol 1. St. Louis: Mosby; 1971:141-43
11. van der Knaap MS, Wezel-Meijler G, Barth PG, et al. Normal gyration and sulcation in preterm and term neonates: appearance on MR images. Radiology 1996;200:389-96 (Pubitemid 26249889)
12. Barkovich AJ. Pediatric Neuroimaging. 4th ed. Philadelphia: Lippincott Williams & Wilkins; 2005:18-41
13. Childs AM, Ramenghi LA, Cornette L, et al. Cerebral maturation in premature infants: quantitative assessment using MR imaging. AJNR Am J Neuroradiol 2001;22:1577-82 (Pubitemid 32862273)
14. Barkovich AJ, Ferriero DM, Barr RM, et al. Microlissencephaly: a heterogeneous malformation of cortical development. Neuropediatrics 1998;29:113-19 (Pubitemid 28327876)
15. Barkovich AJ, Kuzniecky RI, Jacson GD, et al. A developmental and genetic classification for malformation of cortical development. Neurology 2005;65:1873-87 (Pubitemid 43970104)
16. Thornton GK, Woods CG. Primary microcephaly: do all roads lead to Rome? Trends Genet 2009;25:501-10
17. Van Essen DC. A tension-based theory of morphogenesis and compact wiring in the central nervous system. Nature 1997;385:313-18 (Pubitemid 27053095)
18. Hilgetag CC, Barbas H. Developmental mechanics of the primate cerebral cortex. Anat Embryol 2005;210:411-17 (Pubitemid 41752601)
19. Fischl B, Rajendran N, Busa E, et al. Cortical folding patterns and predicting cytoarchitecture. Cereb Cortex 2008;18:1973-80 (Pubitemid 352019918)
20. Toro R, Bornod Y. A morphogenetic model of the development of cortical convolutions. Cereb Cortex 2005;15:1900-13 (Pubitemid 41628331)
21. Friede RL. Developmental Neuropathology. 2nd ed. Berlin, Germany: Springer- Verlag; 1989:299-301
22. Tarrant A, Garel C, Germanaud D, et al. Microcephaly: a radiological review. Pediatr Radiol 2009;39:772-80
23. Woods CG, Bond J, Enard W. Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. Am J Hum Genet 2005;76:717-28 (Pubitemid 40563095)
24. Huttenlocher PR. Dendritic development in neocortex of children with mental defect and infantile spasms. Neurology 1974;24:203-10
25. Barkovich AJ, Kjos BO. Normal postnatal development of the corpus callosum as demonstrated by MR imaging. AJNR Am J Neuroradiol 1988;9:487-91