Literature DB >> 24777445

Membranous lipodystrophy: skeletal findings on CT and MRI.

O Kenechi Nwawka1, Robert Schneider, Manjula Bansal, Douglas N Mintz, Joseph Lane.   

Abstract

Membranous lipodystrophy, also known as Nasu-Hakola disease, is a rare hereditary condition with manifestations in the nervous and skeletal systems. The radiographic appearance of skeletal lesions has been well described in the literature. However, CT and MRI findings of lesions in the bone have not been documented to date. This report describes the radiographic, CT, MRI, and histopathologic skeletal findings in a case of membranous lipodystrophy. With corroborative pathologic findings, a diagnosis of membranous lipodystrophy on imaging allows for appropriate clinical management of disease manifestations.

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Year:  2014        PMID: 24777445     DOI: 10.1007/s00256-014-1887-5

Source DB:  PubMed          Journal:  Skeletal Radiol        ISSN: 0364-2348            Impact factor:   2.199


  19 in total

Review 1.  Membranous lipodystrophy. Case report and review of the literature.

Authors:  Manuel Fernández Prada; Santiago Muñoz-Fernández; Enrique Gil-Garay; Fernando López-Barea; Emilio Martín-Mola
Journal:  Joint Bone Spine       Date:  2003-09       Impact factor: 4.929

2.  A clinical and histopathological study of 22 patients with membranous lipodystrophy.

Authors:  S Ahn; M Yoo; S Lee; E Choi
Journal:  Clin Exp Dermatol       Date:  1996-07       Impact factor: 3.470

3.  Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13.

Authors:  P Pekkarinen; I Hovatta; P Hakola; O Järvi; M Kestilä; U Lenkkeri; R Adolfsson; G Holmgren; P O Nylander; L Tranebjaerg; J D Terwilliger; J Lönnqvist; L Peltonen
Journal:  Am J Hum Genet       Date:  1998-02       Impact factor: 11.025

4.  Nasu-Hakola disease in two Tunisian siblings: new radiological findings.

Authors:  M Chaabane; A Larnaout; R Sebai; S Nagi; S Touibi; F Hentati
Journal:  Neuroradiology       Date:  2000-05       Impact factor: 2.804

5.  CNS manifestations of Nasu-Hakola disease: a frontal dementia with bone cysts.

Authors:  J Paloneva ; T Autti; R Raininko; J Partanen; O Salonen; M Puranen; P Hakola; M Haltia
Journal:  Neurology       Date:  2001-06-12       Impact factor: 9.910

6.  Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia.

Authors:  H P Hakola
Journal:  Acta Psychiatr Scand Suppl       Date:  1972

7.  Membranous lipodystrophy of bone.

Authors:  C Wood
Journal:  Arch Pathol Lab Med       Date:  1978-01       Impact factor: 5.534

8.  Vascular changes and blood-brain barrier damage in the pathogenesis of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy).

Authors:  H Kalimo; P Sourander; O Järvi; P Hakola
Journal:  Acta Neurol Scand       Date:  1994-05       Impact factor: 3.209

9.  Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts.

Authors:  J Paloneva; M Kestilä; J Wu; A Salminen; T Böhling; V Ruotsalainen; P Hakola; A B Bakker; J H Phillips; P Pekkarinen; L L Lanier; T Timonen; L Peltonen
Journal:  Nat Genet       Date:  2000-07       Impact factor: 38.330

10.  Lipomembranous (membranocystic) fat necrosis. Clinicopathologic correlation of 38 cases.

Authors:  J L Snow; W P Su
Journal:  Am J Dermatopathol       Date:  1996-04       Impact factor: 1.533

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  2 in total

Review 1.  The Primary Microglial Leukodystrophies: A Review.

Authors:  Isidro Ferrer
Journal:  Int J Mol Sci       Date:  2022-06-06       Impact factor: 6.208

Review 2.  The Pathophysiological Role of Microglia in Dynamic Surveillance, Phagocytosis and Structural Remodeling of the Developing CNS.

Authors:  Cataldo Arcuri; Carmen Mecca; Roberta Bianchi; Ileana Giambanco; Rosario Donato
Journal:  Front Mol Neurosci       Date:  2017-06-19       Impact factor: 5.639

  2 in total

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