Unusual MRI and pathologic findings of progressive multifocal leukoencephalopathy complicating adult Wiskott-Aldrich syndrome.
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.
Matsushima
T
T
Department of Neurology, Institute for Brain Research, Tokyo, Japan.
Nakamura
K
K
Oka
T
T
Tachikawa
N
N
Sata
T
T
Murayama
S
S
Nukina
N
N
Kanazawa
I
I
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*
D009942:Organometallic Compounds; D004369:Pentetic Acid; D019786:Gadolinium DTPA