1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-8-38-a 10.15844/pedneurbriefs-8-5-8 Degenerative-Demyelinating Diseases Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Multifocal Leukoencephalopathy http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 05 1994 01 06 2016 8 5 38 38 Copyright: © 1994 The Author(s) 1994 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Progressive multifocal leukoencephalopathy complicating Wiskott-Aldrich syndrome. Report of a case and review of the literature of progressive multifocal leukoencephalopathy with other inherited immunodeficiency states

A 15-year-old boy with Wiskott-Aldrich syndrome complicated by progressive multifocal leukoencephalopathy (PML) is reported from the University of Miami School of Medicine, FL, and the National Institute of Neurological Disorders and Stroke, Bethesda, MD.

 Progressive Multifocal Leukoencephalopathy Wiskott-Aldrich Syndrome Atypical Astocytes

A 15-year-old boy with Wiskott-Aldrich syndrome complicated by progressive multifocal leukoencephalopathy (PML) is reported from the University of Miami School of Medicine, FL, and the National Institute of Neurological Disorders and Stroke, Bethesda, MD. At age 4 months he developed thrombocytopenic purpura and with subsequent appearance of eczema and frequent pneumonia and otitis media, the diagnosis of Wiskott-Aldrich syndrome was made at age 7 years. At age 12 years he suffered a retroperitoneal hematoma, liver abscesses, followed by frequent infections, including viral pneumonia, herpes labialis, and Candida septicemia. Neuropsychiatric problems occurred at 14 years of age and progressed, with slurred speech, apathy, and right sided weakness. MRI revealed multiple high-intensity signal lesions in brain stem and cerebrum, including thalamus and basal ganglia. Brain biopsy confirmed PML, characterized by abnormal oligodendroglial nuclei, atypical astocytes, and foamy macrophages. Immunostaining with antibody against papovirus capsid antigen was positive. Bone marrow biopsy and peripheral blood lymphocytes were positive for JC virus DNA. At autopsy the brain showed multiple areas of demyelination. intranuclear inclusions, and a large left frontal hemorrhage. Survival from the time of onset of PML was 10 months. [1]

COMMENT. Wiscott-Aldrich syndrome is an inherited X-linked recessive immunodeficiency disease characterized by severe eczema, thrombocytopenia, and frequent infections. Patients usually die of infection, hemorrhage, or malignant neoplasm. This case report may be the first described with PML complicating the Wiscott-Aldrich syndrome.

PML is an opportunistic infection of the CNS with JC virus characterized by a rapidly progressive degenerative demyelinating disease. Immunodeficient states associated with PML include AIDS, lymphoma, leukemia, tuberculosis, systemic lupus, organ transplant and rarely, Wiskott-Aldrich syndrome. PML is a disease of adults and is very uncommon in children. An MRI of a 40 year-old man with AIDS and PML is presented by Weiss PJ and DeMarco JK under Images in Clinical Medicine, N Engl J Med April 1994;330:1197. PML changes are best seen on the T2-weighted image as high-intensity abnormalities in the white matter. On T1-weighted image, the lesions are low-intensity and not enhanced by gadolinium, which differentiates them from primary lymphoma of the CNS.

 Katz DA Berger JR Hamilton B Major EO Post MJ Progressive multifocal leukoencephalopathy complicating Wiskott-Aldrich syndrome. Report of a case and review of the literature of progressive multifocal leukoencephalopathy with other inherited immunodeficiency states Arch Neurol 1994 Apr 51 4 422 6 8155020 10.1001/archneur.1994.00540160128016