Band-like intracranial calcification with simplified gyration and polymicrogyria: A distinct "pseudo-TORCH" phenotype

American Journal of Medical Genetics, Part A

Volumn 146, Issue 24, 2008, Pages 3173-3180

  Briggs, T A ^a   Wolf, N I ^b   D'Arrigo, S ^c   Ebinger, F ^b   Harting, I ^b   Dobyns, W B ^d   Livingston, J H ^e   Rice, G I ^a   Crooks, D ^f   Rowland Hill, C A ^f   Squier, W ^g   Stoodley, N ^h   Pilz, D T ⁱ   Crow, Y J ^a,j  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

^d UNIVERSITY OF CHICAGO   (United States)

^e LEEDS GENERAL INFIRMARY   (United Kingdom)

^f HULL ROYAL INFIRMARY   (United Kingdom)

^g JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^h FRENCHAY HOSPITAL   (United Kingdom)

ⁱ UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^j ST MARY S HOSPITAL   (United Kingdom)

more..

Author keywords

Cytomegalovirus; Intracranial calcification; Polymicrogyria; Pseudo torch

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN CALCIFICATION; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; CYTOMEGALOVIRUS INFECTION; DEVELOPMENTAL DISORDER; FEMALE; HUMAN; INTRAUTERINE INFECTION; MALE; MICROCEPHALY; MICROGYRIA; PRIORITY JOURNAL; PSEUDO TORCH SYNDROME; SEIZURE;

ABNORMALITIES, MULTIPLE; BRAIN; BRAIN DISEASES; CALCINOSIS; CHILD; FATAL OUTCOME; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; PHENOTYPE; POSTMORTEM CHANGES; TOMOGRAPHY, X-RAY COMPUTED;

CYTOMEGALOVIRUS;

EID: 57149119935     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32614     Document Type: Article

References (36)

1. Aalfs CM, Hennekam RC. 1995. Differences between the Hoyeraal-Hreidarsson syndrome and an autosomal recessive congenital intrauterine infection-like syndrome. Am J Med Genet 58:385.
2. Aicardi J. 1998. Diseases of the Nervous System in childhood. 2nd edition. London: Mac Keith Press.
3. Aicardi J, Goutières F. 1984. A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol 15:49-54.
4. al-Mane K, al-Dayal F, McDonald P. 1998. Intracranial calcification in Raine syndrome: Radiological pathological correlation. Pediatr Radiol 28:820-823.
5. Barkovich A, Lindan C. 1994. Congenital cytomegalovirus infection of the brain: Imaging analysis and embryological considerations. Am J Neuroradiol 15:703-715.
6. Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB. 2005. A developmental and genetic classification for malformations of cortical development. Neurology 65:1873-1887.
7. Boppana SB, Fowler KB, Vaid Y, Hedlund G, Stagno S, Britt WJ, Pass RF. 1997. Neuroradiographic findings in the newborn period and long-term outcome in children with symptomatic congenital cytomegalovirus infection. Pediatrics 99:409-414.
8. Briggs TA, Abdel-Salam GMH, Balicki M, Baxter P, Bertini E, Bishop N, Browne BH, Chitayat D, Chong WK, Eid MM, Halliday W, Hughes I, Klusmann-Koy A, Kurian M, Nischall KK, Rice GI, Stephenson JPB, Surtees R, Talbot JF, Tehrani NN, Tolmie JL, Toomes C, van der Knaap MS, Crow YJ. 2008. Cerebroretinal microangiopathy with calcification and cysts (CRMCC). Am J Med Genet Part A 146A:182-190.
9. Burn J, Wickramasinghe HT, Harding B, Baraitser M. 1986. A syndrome with intracranial calcification and microcephaly in two sibs, resembling intrauterine infection. Clin Genet 30:112-116.
10. Chitayat D, Meagher-Villemure K, Mamer OA, O'Gorman A, Hoar DI, Silver K, Scriver CR. 1992. Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxybutyric aciduria. J Pediatr 121:86-89.
11. Coskun T, Besim A, Ozalp I, Eryilmaz M. 1990. Intracranial calcification in dihydropteridine reductase deficiency. Turk J Pediatr 32:259-264.
12. Crow YJ, Jackson AP, Roberts E, van Beusekom E, Barth P, Corry P, Ferrie CD, Hamel BC, Jayatunga R, Karbani G, Kálmánchey R, Kelemen A, King M, Kumar R, Livingstone J, Massey R, McWilliam R, Meager A, Rittey C, Stephenson JB, Tolmie JL, Verrips A, Voit T, van Bokhoven H, Brunner HG, Woods CG. 2000. Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21. Am J Hum Genet 67:213-221.
13. Crow YJ, Black DN, Ali M, Bond J, Jackson AP, Lefson M, Michaud J, Roberts E, Stephenson JB, Woods CG, Lebon P. 2003. Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: Implications for the pathogenesis of disorders of interferon alpha metabolism. J Med Genet 40:183-187.
14. Gardner RJ, Chow CW, Simpson I, Fink AM, Meagher SE, White SM. 2005. Severe fetal brain dysgenesis with focal calcification. Prenat Diagn 25:362-364.
15. Hayward JC, Titelbaum DS, Clancy RR, Zimmerman RA. 1991. Lissencephaly-pachygyria associated with congenital cytomegalovirus infection. J Child Neurol 6:109-114.
16. Jansen A, Andermann E. 2005. Genetics of polymicrogyria syndromes. J Med Genet 42:369-378.
17. Kalyanasundaram S, Dutta S, Narang A, Katariya S. 2003. Microcephaly with plate-like cortical calcification. Brain Dev 25:130-132.
18. Knoblauch H, Tennstedt C, Brueck W, Hammer H, Vulliamy T, Dokal I, Lehmann R, Hanefeld F, Tinschert S. 2003. Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome). Am J Med Genet Part A 120A:261-265.
19. Lago EG, Baldisserotto M, Hoefel Filho JR, Santiago D, Jungblut R. 2007. Agreement between ultrasonography and computed tomography in detecting intracranial calcifications in congenital toxoplasmosis. Clin Radiol 62:1004-1011.
20. Marques Dias MJ, Harmant-van Rijckevorsel G, Landrieu P, Lyon G. 1984. Prenatal cytomegalovirus disease and cerebral microgyria: Evidence for perfusion failure, not disturbance of histogenesis, as the major cause of fetal cytomegalovirus encephalopathy. Neuropediatrics 15:18-24.
21. Rapin I, Weidenheim K, Lindenbaum Y, Rosenbaum P, Merchant SN, Krishna S, Dickson DW. 2006. Cockayne syndrome in adults: Review with clinical and pathologic study of a new case. J Child Neurol 21:991-1006.
22. Reardon W, Hockey A, Silberstein P, Kendall B, Farag TI, Swash M, Stevenson R, Baraitser M. 1994. Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease. Am J Med Genet 52:58-65.
23. Renella R, Schaefer E, LeMerrer M, Alanay Y, Kandemir N, Eich G, Costa T, Ballhausen D, Boltshauser E, Bonafe L, Giedion A, Unger S, Superti-Furga A. 2006. Spondyloenchondrodysplasia with spasticity, cerebral calcification and immune dysregualtion: Clinical and radiographic delineation of a pleiotrophic disorder. Am J Med Genet Part A 140A:541-550.
24. Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, Vles JS, Voit T, Wassmer E, Weschke B, Whiteford ML, Willemsen MA, Zankl A, Zuberi SM, Orcesi S, Fazzi E, Lebon P, Crow YJ. 2007. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet 81:713-725.
25. Saillour Y, Zanni G, Des Portes V, Heron D, Guibaud L, Iba-Zizen MT, Pedespan JL, Poirier K, Castelnau L, Julien C, Franconnet C, Bonthron D, Porteous ME, Chelly J, Bienvenu T. 2007. Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia. J Med Genet 44:739-744.
26. Sakai T, Kikuchi F, Takashima S, Matsuda H, Watanabe N. 1997. Neuropathological findings in the cerebro-oculo-facio-skeletal (Pena-Shokeir II) syndrome. Brain Dev 19:58-62.
27. Samson JF, Barth PG, de Vries JI, Menko FH, Ruitenbeek W, van Oost BA, Jakobs C. 1994. Familial mitochondrial encephalopathy with fetal ultrasonographic ventriculomegaly and intracerebral calcifications. Eur J Pediatr 153:510-516.
28. Sanchis A, Cerveró L, Bataller A, Tortajada JL, Huguet J, Crow YJ, Ali M, Higuet LJ, Martínez-Frías ML. 2005. Genetic syndromes mimic congenital infections. J Pediatr 146:701-705.
29. Slee J, Lam G, Walpole I. 1999. Syndrome of microcephaly, microphthalmia, cataracts, and intracranial calcification. Am J Med Genet 84:330-333.
30. Smith RR. 1992. Neuroradiology of intracranial infection. Pediatr Neurosurg 18:92-104.
31. Steinlin M, Nadal D, Eich G, Martin E, Boltshauser E. 1996. Late intrauterine cytomegalovirus infection: Clinical and neuroradiological findings. Pediatr Neurol 15:249-253.
32. Stephenson JBP, Tolmie J, Heckmatt J, Tang S, Tatnall F, Lebon P. 1997. Aicardi-Goutières syndrome: Autoimmune clues to diagnosis and pathogenesis, and link to microcephaly intracranial calcification syndrome. Dev Med Child Neurol 39:15.
33. Thomas-Sohl KA, Vaslow DF, Maria BL. 2004. Sturge-Weber syndrome: A review. Pediatr Neurol 30:303-310.
34. Tovo PA, Gabiano C, Favro-Paris S, Palomba E, Gajno G. 1988. Brain atrophy with intracranial calcification following congenital HIV infection. Acta Paediatr Scand 77:776-779.
35. Vivarelli R, Grosso S, Cioni M, Galluzzi P, Monti L, Morgese G, Balestri P. 2001. Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: Diagnostic criteria. Brain Dev 23:18-23.
36. Watts P, Kumar N, Ganesh A, Sastry P, Pilz D, Levin AV, Chitayat D. 2008. Chorioretinal dysplasia, hydranencephaly, and intracranial calcifications: Pseudo-TORCH or a new syndrome? Eye 22:730-733.