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; received in revised form 29 July 2003; accepted 12 August 2003.

Abstract 

We report on a patient affected by ICF syndrome (immunodeficiency, centromeric instability of chromosomes 1, 9 and 16 and facial dysmorphism), who presented with slowing in mentation, mild right hemiparesis and focal motor seizures. MRI study of the brain suggested a diagnosis of progressive multifocal leukoencephalopathy (PML), which was confirmed by JC virus DNA detection on CSF by polymerase chain reaction (PCR). This is a unique case of adult infective neurological complication described in ICF Syndrome.

Keywords:  ICF syndrome, Progressive Multifocal Leukoencephalopathy, JC virus

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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

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