title: Unusual MRI and pathologic findings of progressive multifocal leukoencephalopathy complicating adult Wiskott-Aldrich syndrome.
abstract: We present a long-surviving patient with Wiskott-Aldrich syndrome complicated by atypical progressive multifocal leukoencephalopathy (PML). MRI showed multiple tiny spots of Gd-DTPA-enhanced lesions on the T1-weighted image. Pathologic findings for brain biopsy were patchy demyelinated vascularized lesions infiltrated by a surprising number of eosinophils. The presence of polyomavirus JC was confirmed by in situ hybridization and polymerase chain reaction. PML should be included in the differential diagnosis when Gd-DTPA-enhanced spotty lesions are present in the white matter, especially in patients who have a mild immunologic defect.
authors.affiliation: Department of Neurology, Institute for Brain Research, Tokyo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Matsushima
authors.forename: K
authors.initials: K
authors.lastname: Nakamura
authors.forename: T
authors.initials: T
authors.lastname: Oka
authors.forename: N
authors.initials: N
authors.lastname: Tachikawa
authors.forename: T
authors.initials: T
authors.lastname: Sata
authors.forename: S
authors.initials: S
authors.lastname: Murayama
authors.forename: N
authors.initials: N
authors.lastname: Nukina
authors.forename: I
authors.initials: I
authors.lastname: Kanazawa
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D019786:Gadolinium DTPA; D006801:Humans; D007968:Leukoencephalopathy, Progressive Multifocal / Q000150:complications* / Q000175:diagnosis* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009942:Organometallic Compounds; D004369:Pentetic Acid / Q000031:analogs & derivatives; D014057:Tomography, X-Ray Computed; D014923:Wiskott-Aldrich Syndrome / Q000150:complications*
chemical_list: D009942:Organometallic Compounds; D004369:Pentetic Acid; D019786:Gadolinium DTPA