作者: T. D. Bird , R. M. Koerker , B. J. Leaird , B. W. Vlcek , D. R. Thorning
DOI: 10.1212/WNL.33.1.81
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摘要: Progressive presenile dementia with lipomembranous polycystic osteodysplasia was first described by Jarvi and Hakola in an isolated region of Finland. We report the occurrence this disorder 4 10 siblings American family Czechoslovakian ancestry. Characteristics disease include multiple bone cysts pathologic fractures, progressive seizures abnormal EEG, calcification basal ganglia, death fourth to sixth decades. Autosomal-recessive inheritance is likely. Electronmicroscopy fat cells reveals peculiar membrane convolutions. Limited neuropathologic material has shown gliosis demyelination white matter, senile plaques, neurofibrillary tangles. Leukemia a intestinal motility may be associated findings. Prevalence unknown, partly because it confused Alzheimer fibrous dysplasia bone. Radiographs hands feet should part evaluation patients unexplained dementia.