title: Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL): a new report of an Italian woman and review of the literature.
abstract: We report the clinical case of a 43year 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 in cases of presenile frontal-lobe dementia, even if the hallmark of pathological fractures is absent.
authors: Neuro-Oncology Unit, Fondazione IRCCS Istituto Neurologico C. Besta, Via Celoria 11, 20133 Milan, Italy. VeronikaBock@gmx.de
authors: Veronika
authors: V
authors: Bock
authors: Andrea
authors: A
authors: Botturi
authors: Paola
authors: P
authors: Gaviani
authors: Elena
authors: E
authors: Lamperti
authors: Carmelo
authors: C
authors: Maccagnano
authors: Laura
authors: L
authors: Piccio
authors: Antonio
authors: A
authors: Silvani
authors: Andrea
authors: A
authors: Salmaggi
mesh_terms: D005260:Female; D006801:Humans; D008060:Lipodystrophy / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics*; D035781:Siblings; D013344:Subacute Sclerosing Panencephalitis / Q000175:diagnosis* / Q000235:genetics*