Progressive leukoencephalopathy with intracranial calcification, congenital deafness, and developmental deterioration

American Journal of Medical Genetics, Part A

Volumn 155, Issue 11, 2011, Pages 2832-2837

  Kuki, Ichiro ^a   Kawawaki, Hisashi ^a   Okazaki, Shin ^a   Kimura Ohba, Shihoko ^a   Nakano, Tomoaki ^a   Fukushima, Hiroko ^a   Inoue, Takeshi ^a   Tomiwa, Kiyotaka ^a   Itoh, Masayuki ^b  

^a OSAKA CITY GENERAL HOSPITAL   (Japan)

^b NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

Author keywords

Congenital deafness; Developmental deterioration; Intracranial calcification; Leukoencephalopathy

Indexed keywords

GLIAL FIBRILLARY ACIDIC PROTEIN;

ARTICLE; AUTOPSY; BENIGN CHILDHOOD EPILEPSY; BLOOD VESSEL FISTULA; BRAIN ATROPHY; BRAIN BLOOD FLOW; BRAIN CALCIFICATION; BRAIN VENTRICLE DILATATION; CASE REPORT; CHILD; CLINICAL FEATURE; CONGENITAL DEAFNESS; DEMYELINATION; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; EPILEPTIC STATE; GLIOSIS; HUMAN; IMMUNOHISTOCHEMISTRY; INTELLECTUAL IMPAIRMENT; MALE; NEUROIMAGING; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROGRESSIVE MULTIFOCAL LEUKOENCEPHALOPATHY; SCHOOL CHILD; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY;

BRAIN; CALCINOSIS; CHILD; DEVELOPMENTAL DISABILITIES; FATAL OUTCOME; HEARING LOSS; HUMANS; INFANT; INTELLECTUAL DISABILITY; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MALE; MYELIN SHEATH; TOMOGRAPHY, X-RAY COMPUTED;

EID: 80054961326     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34256     Document Type: Article

References (24)

1. Adachi M, Kawanami T, Ohshima F, Hosoya T. 2006. MR findings of cerebral white matter in Cockayne syndrome. Magn Reson Med Sci 5:41-45.
2. 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.
3. Eichler F, Grodd W, Grant E, Sessa M, Biffi A, Bley A, Kohlschuetter A, Loes DJ, Kraegeloh-Mann I. 2009. Metachromatic leukodystrophy: A scoring system for brain MR imaging observations. Am J Neuroradiol 30:1893-1897.
4. Goutières F. 2005. Aicardi-Goutières syndrome. Brain Dev 27:201-206.
5. Goutières F, Aicardi J, Barth PG, Lebon P. 1998. Aicardi-Goutières syndrome: An update and results of interferon-alpha studies. Ann Neurol 44:900-907.
6. Kohlschütter A, Bley A, Brockmann K, Gärtner J, Krägeloh-Mann I, Rolfs A, Schöls L. 2010. Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults. Brain Dev 32:82-89.
7. Labrune P, Lacroix C, Goutières F, de Laveaucoupet J, Chevalier P, Zerah M, Husson B, Landrieu P. 1996. Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: A new progressive disorder due to diffuse cerebral microangiopathy. Neurology 46:1297-1301.
8. Lanzi G, Fazzi E, D'Arrigo S, Orcesi S, Maraucci I, Uggetti C, Bertini E, Lebon P. 2005. The natural history of Aicardi-Goutières syndrome: Follow-up of 11 Italian patients. Neurology 64:1621-1624.
9. Leegwater PAJ, Vermeulen G, Könst AA, Naidu S, Mulders J, Visser A, Kersbergen P, Mobach D, Fonds D, van Berkel CG, Lemmers RJ, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS. 2001. Subunits of the translation initiation factor eiF2B are mutant in leukoencephalopathy with vanishing white matter. Nat Genet 29:383-388.
10. Leuzzi V, Rinna A, Gallucci M, Di Capua M, Dionisi-Vici C, Longo D, Bertini E. 2000. Ataxia, deafness, leukodystrophy: Inherited disorder of the white matter in three related patients. Neurology 54:2325-2328.
11. Linnankivi T, Valanne L, Paetau A, Alafuzoff I, Hakumäki JM, Kivelä T, Lönnqvist T, Mäkitie O, Pääkkönen L, Vainionpää L, Vanninen R, Herva R, Pihko H. 2006. Cerebroretinal microangiopathy with calcifications and cysts. Neurology 67:1437-1443.
12. Loes DJ, Fatemi A, Melhem ER, Gupte N, Bezman L, Moser HW, Raymond GV. 2003. Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy. Neurology 61:369-374.
13. Rasmussen M, Skullerud K, Bakke SJ, Lebon P, Jahnsen FL. 2005. Cerebral thrombotic microangiopathy and antiphospholipid antibodies in Aicardi-Goutières syndrome-Report of two sisters. Neuropediatrics 36:40-44.
14. 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-Goutières syndrome. Am J Hum Genet 81:713-725.
15. Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BC, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W, Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson DB, Bonthron DT, Crow YJ. 2009. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet 41:829-832.
16. Scheper GC, van der Klok T, van Andel RJ, van Berkel CG, Sissler M, Smet J, Muravina TI, Serkov SV, Uziel G, Bugiani M, Schiffmann R, Krägeloh-Mann I, Smeitink JA, Florentz C, Van Coster R, Pronk JC, van der Knaap MS. 2007. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet 39:534-539.
17. Schiffmann R, van der Knaap MS. 2009. An MRI-based approach to the diagnosis of white matter disorders. Neurology 72:750-759.
18. Serkov SV, Pronin IN, Bykova OV, Maslova OI, Arutyunov NV, Muravina TI, Kornienko VN, Fadeeva LM, Marks H, Bönnemann C, Schiffmann R, van der Knaap MS. 2004. Five patients with a recently described novel leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate. Neuropediatrics 35:1-5.
19. Stephenson JB. 2008. Aicardi-Goutières syndrome (AGS). Eur J Paediatr Neurol 12:355-358.
20. Suzuki K. 2003. Globoid cell leukodystrophy (Krabbe's disease): Update. J Child Neurol 18:595-603.
21. Uggetti C, La Piana R, Orcesi S, Egitto MG, Crow YJ, Fazzi E. 2009. Aicardi-Goutières syndrome: Neuroradiologic findings and follow-up. Am J Neuroradiol 30:1971-1976.
22. Van der Knaap MS, Barth PG, Gabreëls FJ, Franzoni E, Begeer JH, Stroink H, Rotteveel JJ, Valk J. 1997. A new leukoencephalopathy with vanishing white matter. Neurology 48:845-855.
23. Van der Knaap MS, van der Voorn P, Barkhof F, Van Coster R, Krägeloh-Mann I, Feigenbaum A, Blaser S, Vles JS, Rieckmann P, Pouwels PJ. 2003. A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann Neurol 53:252-258.
24. Van der Voorn JP, Pouwels PJ, Vermeulen RJ, Barkhof F, van der Knaap MS. 2009. Quantitative MR imaging and spectroscopy in congenital cytomegalovirus infection and periventricular leukomalacia suggests a comparable neuropathological substrate of the cerebral white matter lesions. Neuropediatrics 40:168-173.