Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL): A new report of an Italian woman and review of the literature

Veronika Bock, Andrea Botturi, Paola Gaviani, Elena Lamperti, Carmelo MacCagnano, Laura Piccio, Antonio Silvani, Andrea Salmaggi

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

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 in cases of presenile frontal-lobe dementia, even if the hallmark of pathological fractures is absent.

Original languageEnglish
Pages (from-to)115-119
Number of pages5
JournalJournal of the Neurological Sciences
Volume326
Issue number1-2
DOIs
Publication statusPublished - 2013

Fingerprint

Frontal Lobe
Dementia
Bone and Bones
Spontaneous Fractures
Mutation
Siblings
Extremities
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Genes

Keywords

  • Bone
  • Central nervous system diseases
  • Dementia
  • Fracture
  • Microglia
  • Nasu Hakola disease
  • Osteoclast
  • PLOSL
  • TREM

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

@article{100d7db7e83c44abb9a1e569640ccaf8,
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 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 in cases of presenile frontal-lobe dementia, even if the hallmark of pathological fractures is absent.",
keywords = "Bone, Central nervous system diseases, Dementia, Fracture, Microglia, Nasu Hakola disease, Osteoclast, PLOSL, TREM",
author = "Veronika Bock and Andrea Botturi and Paola Gaviani and Elena Lamperti and Carmelo MacCagnano and Laura Piccio and Antonio Silvani and Andrea Salmaggi",
year = "2013",
doi = "10.1016/j.jns.2013.01.021",
language = "English",
volume = "326",
pages = "115--119",
journal = "Journal of the Neurological Sciences",
issn = "0022-510X",
publisher = "Elsevier",
number = "1-2",

}

TY - JOUR

T1 - Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL)

T2 - A new report of an Italian woman and review of the literature

AU - Bock, Veronika

AU - Botturi, Andrea

AU - Gaviani, Paola

AU - Lamperti, Elena

AU - MacCagnano, Carmelo

AU - Piccio, Laura

AU - Silvani, Antonio

AU - Salmaggi, Andrea

PY - 2013

Y1 - 2013

N2 - 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 in cases of presenile frontal-lobe dementia, even if the hallmark of pathological fractures is absent.

AB - 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 in cases of presenile frontal-lobe dementia, even if the hallmark of pathological fractures is absent.

KW - Bone

KW - Central nervous system diseases

KW - Dementia

KW - Fracture

KW - Microglia

KW - Nasu Hakola disease

KW - Osteoclast

KW - PLOSL

KW - TREM

UR - http://www.scopus.com/inward/record.url?scp=84875415321&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84875415321&partnerID=8YFLogxK

U2 - 10.1016/j.jns.2013.01.021

DO - 10.1016/j.jns.2013.01.021

M3 - Article

C2 - 23399524

AN - SCOPUS:84875415321

VL - 326

SP - 115

EP - 119

JO - Journal of the Neurological Sciences

JF - Journal of the Neurological Sciences

SN - 0022-510X

IS - 1-2

ER -