An adult case of leukoencephalopathy with intracranial calcifications and cysts.
We describe a 44-year-old woman with progressive headache, ataxia, and seizures in association with multifocal cerebral and cerebellar leukoencephalopathy, intracranial calcifications, and cysts. The cause of death was intracerebellar hemorrhage while taking warfarin. Pathologic features on biopsy included angiomatous-like blood vessels, intense gliosis, and Rosenthal fiber formation in the white matter. Genetic analyses did not identify any significant mutations in two candidate genes.
Corboy
John R
JR
Department of Neurology, Box B-183, University of Colorado at Denver and Health Sciences Center, 4200 E. Ninth Avenue, Denver, CO 80262, USA. john.corboy@uchsc.edu
Gault
Judith
J
Kleinschmidt-DeMasters
B K
BK
D000328:Adult; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D000925:Anticoagulants / Q000009:adverse effects; D001921:Brain / Q000098:blood supply / Q000473:pathology* / Q000503:physiopathology; D002114:Calcinosis / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D020863:Central Nervous System Cysts / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D002536:Cerebral Arteries / Q000473:pathology* / Q000503:physiopathology; D002561:Cerebrovascular Disorders / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D004252:DNA Mutational Analysis; D015140:Dementia, Vascular / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D018450:Disease Progression; D017809:Fatal Outcome; D005260:Female; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics; D020773:Headache Disorders; D006801:Humans; D020300:Intracranial Hemorrhages / Q000139:chemically induced / Q000473:pathology / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D009154:Mutation / Q000235:genetics; D020293:Vasculitis, Central Nervous System / Q000235:genetics / Q000473:pathology / Q000503:physiopathology
D000893:Anti-Inflammatory Agents; D000925:Anticoagulants; D005904:Glial Fibrillary Acidic Protein