Progressive multifocal leukoencephalopathy in a 15-year-old boy with scleroderma and secondary amyloidosis.

Abstract

Progressive multifocal leukoencephalopathy (PML) is a rapidly progressive degenerative demyelinating disease that results from infection with JC virus. PML usually occurs in an immunocompromised individual, putatively attributable to reactivation of a latent JC virus. In childhood PML has been reported in individuals with acquired immunodeficiency syndrome (AIDS),1–3 Wiskott–Aldrich syndrome,4 and inherited immunodeficiencies.5,,6We report here a 15-year-old boy with generalized morphea, a form of limited cutaneous sclerodema, and secondary amyloidosis who developed PML. The rapid onset of his neurologic manifestations and the initial neuroimaging studies suggested acute disseminated encephalomyelitis (ADEM), and a brain biopsy was needed for the diagnosis of PML. A 15-year-old boy with scleroderma and amyloidosis was admitted for progressive ataxia, dysarthria, and weakness. His medical history was notable for generalized morphea confirmed by a skin biopsy at 3 years of age. He had severe cutaneous involvement and finger and toe contractures attributable to skin and soft tissue involvement. He was treated with prednisone andD-penicillamine for several years. All autoantibodies were negative, and immunologic work-up revealed normal complement and immunoglobulin levels but a low absolute T-cell count of 533 cells/μL. There was no evidence of active arthritis or recurrent infections. Two years before admission, he was diagnosed with secondary amyloidosis with serum amyloid A protein by liver biopsy. A concomitant skin biopsy showed no evidence of amyloid deposition and continued to be consistent with morphea. Proteinuria was noted. Prednisone was stopped, and chlorambucil (4 mg per day) was started. He responded well to the chlorambucil over the next several months with significant regression of amyloidosis-related clinical findings and marked dermatologic improvement. He was maintained on chlorambucil only. However, 2 months before admission the dosage had to be decreased from 4 mg to 3 mg daily because of leukopenia with a white …