Journal of the Neurological Sciences
Volume 217, Issue 1 , Pages 107-110 , 15 January 2004

Progressive multifocal leukoencephalopathy in an adult patient with ICF syndrome

  • Monica Colucci

      Affiliations

    • Dipartimento di Neuroscienze, Oftalmologia e Genetica dell'Università di Genova, Via Antonio De Toni 5, I-16132 Genoa, Italy
    • ,
  • Leonardo Cocito

      Affiliations

    • Corresponding Author InformationCorresponding author. Tel.: +39-010-353-7040; fax: +39-010-353-8631.
    • Dipartimento di Neuroscienze, Oftalmologia e Genetica dell'Università di Genova, Via Antonio De Toni 5, I-16132 Genoa, Italy
    • ,
  • Elisabetta Capello

      Affiliations

    • Dipartimento di Neuroscienze, Oftalmologia e Genetica dell'Università di Genova, Via Antonio De Toni 5, I-16132 Genoa, Italy
    • ,
  • Gian Luigi Mancardi

      Affiliations

    • Dipartimento di Neuroscienze, Oftalmologia e Genetica dell'Università di Genova, Via Antonio De Toni 5, I-16132 Genoa, Italy
    • ,
  • Carlo Serrati

      Affiliations

    • Dipartimento di Neuroscienze, Oftalmologia e Genetica dell'Università di Genova, Via Antonio De Toni 5, I-16132 Genoa, Italy
    • ,
  • Paola Cinque

      Affiliations

    • Division of Infectious Diseases, San Raffaele Scientific Institute, Milan, Italy
    • ,
  • Angelo Schenone

      Affiliations

    • Dipartimento di Neuroscienze, Oftalmologia e Genetica dell'Università di Genova, Via Antonio De Toni 5, I-16132 Genoa, Italy
    • Center of Excellence for Biomedical Research, University of Genova, Genoa, Italy

Received 12 February 2003 ,Revised 29 July 2003 ,Accepted 12 August 2003.

References 

  1. Hansen RS, Wijmenga C, Luo P, Stanek AM, Canfield TK, Weemaes CM, et al.  The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. Proc. Natl. Acad. Sci. U. S. A. 1999;96:14412–14417
  2. Pezzolo A, Prigione I, Chiesa S, Castellano E, Gimelli G, Pistoia V. A novel case of immunodeficiency, centromeric instability, and facial anomalies (the ICF syndrome): immunologic and cytogenetic studies. Haematologica. 2002;87:329–331
  3. Gimelli G, Varone P, Pezzolo A, Lerone M, Pistoia V. ICF syndrome with variable expression in sibs. J. Med. Genet. 1993;30:429–432
  4. Cinque P, Vago L, Dahl H, Brytting M, Terreni MR, Fornara C, et al.  Polymerase chain reaction on cerebrospinal fluid for diagnosis of virus-associated opportunistic diseases of the central nervous system in HIV-infected patients. AIDS. 1996;10:951–958
  5. Aström KE, Mancall EL, Richardson EP. Progressive multifocal leukoencephalopathy: a hitherto unrecognized complication of chronic lymphatic leukaemia and Hodgkin's disease. Brain. 1958;81:93–111
  6. Angelini L, Pietrogrande MC, Delle Piane MR, Zibordi F, Cinque P, Maccagnano C, et al.  Progressive multifocal leukoencephalopathy in a child with hyperimmunoglobulin E recurrent infection syndrome and review of the literature. Neuropediatrics. 2001;32:250–255
  7. Haider S, Nafziger D, Gutierrez JA, Brar I, Mateo N, Fogle J. Progressive multifocal leukoencephalopathy and idiopathic CD4+ lymphocytopenia: a case report and review of reported cases. Clin. Infect. Dis. 2000;31:E20–E22
  8. De Luca A, Cingolani A, Linzalone A, Ammassari A, Murri R, Giancola ML, et al.  Improved detection of JC virus DNA in cerebrospinal fluid for diagnosis of AIDS-related progressive multifocal leukoencephalopathy. J. Clin. Microbiol. 1996;34:1343–1346
  9. Goodkin K, Wilkie FL, Concha M, Hinkin CH, Symes S, Baldewicz TT, et al.  Aging and neuro-AIDS conditions and the changing spectrum of HIV-1-associated morbidity and mortality. J. Clin. Epidemiol. 2001;54(Suppl. 1):S35–S43
  10. McGuire D, Barhite S, Hollander H, Miles M. JC virus DNA in cerebrospinal fluid of human immunodeficiency virus-infected patients: predictive value for progressive multifocal leukoencephalopathy. Ann. Neurol. 1995;37:395–399
  11. Hall CD. JC virus neurologic infection. In:  Dolin R,  Masur H,  Saag MS editor. AIDS Therapy. Edinburgh: Churchill Livingstone; 1999;p. 565–572
  12. Antinori A, Ammassari A, De Luca A, Cingolani A, Murri R, Scoppettuolo G, et al.  Diagnosis of AIDS-related focal brain lesions: a decision-making analysis based on clinical and neuroradiologic characteristics combined with polymerase chain reaction assays in CSF. Neurology. 1997;48:687–694
  13. Berger JR, Pall L, Lanska D, Whiteman M. Progressive multifocal leukoencephalopathy in patients with HIV infection. J. Neurovirology. 1998;4:59–68

PII: S0022-510X(03)00256-9

doi: 10.1016/j.jns.2003.08.009

Journal of the Neurological Sciences
Volume 217, Issue 1 , Pages 107-110 , 15 January 2004

Article Tools

* Image Usage & Resolution