title: Progressive multifocal leukoencephalopathy in an adult patient with ICF syndrome.
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.
authors.affiliation: Dipartimento di Neuroscienze, Oftalmologia e Genetica dell'Università di Genova, Via Antonio De Toni 5, I-16132 Genoa, Italy.
authors.forename: Monica
authors.initials: M
authors.lastname: Colucci
authors.forename: Leonardo
authors.initials: L
authors.lastname: Cocito
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Capello
authors.forename: Gian Luigi
authors.initials: GL
authors.lastname: Mancardi
authors.forename: Carlo
authors.initials: C
authors.lastname: Serrati
authors.forename: Paola
authors.initials: P
authors.lastname: Cinque
authors.forename: Angelo
authors.initials: A
authors.lastname: Schenone
mesh_terms: D000163:Acquired Immunodeficiency Syndrome / Q000134:cerebrospinal fluid / Q000150:complications* / Q000821:virology; D000328:Adult; D004247:DNA / Q000378:metabolism; D005260:Female; D006801:Humans; D007577:JC Virus / Q000235:genetics / Q000302:isolation & purification; D007968:Leukoencephalopathy, Progressive Multifocal / Q000134:cerebrospinal fluid / Q000150:complications* / Q000821:virology; D008279:Magnetic Resonance Imaging; D016133:Polymerase Chain Reaction / Q000379:methods
chemical_list: D004247:DNA