期刊
JOURNAL OF THE NEUROLOGICAL SCIENCES
卷 326, 期 1-2, 页码 115-119出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.jns.2013.01.021
关键词
PLOSL; Central nervous system diseases; Dementia; TREM; Nasu Hakola disease; Microglia; Bone; Fracture; Osteoclast
We report the clinical case of a 43 year old Italian woman and her family with Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. PLOSL is a unique disease clinically characterized by a progressive presenile frontal-lobe dementia and multiple cystic bone lesions, typically leading to fractures of the limbs in the third decade of life. This rare recessively inherited disease is caused by mutations in one of two genes encoding different subunits of a receptor signalling complex, TYROBP and TREM2. In the present case fractures after microtrauma were not diagnosed, despite a radiological demonstration of the characteristic bone lesions in PLOSL. Further investigation led to the same diagnosis in her brother, with similar clinical presentation and the same mutation. Therefore a diagnosis of PLOSL should be considered id cases of presenile frontal-lobe dementia, even if the hallmark of pathological fractures is absent. (c) 2013 Elsevier B.V. All rights reserved.
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