Unusual magnetic resonance imaging findings of cystic bone lesions in congenital generalized lipodystrophy
Cystic bone lesions are the hallmark of skeletal abnormalities in patients with congenital generalized lipodystrophy (CGL). However, their pathophysiology is still unclear and theories about their origin remain largely speculative. This article reports on a patient with CGL and cystic bone lesions,...
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Published in | Journal of postgraduate medicine Vol. 68; no. 4; pp. 236 - 238 |
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Main Authors | , , , |
Format | Journal Article |
Language | English |
Published |
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Wolters Kluwer India Pvt. Ltd
01.10.2022
Medknow Publications & Media Pvt. Ltd Wolters Kluwer - Medknow |
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Abstract | Cystic bone lesions are the hallmark of skeletal abnormalities in patients with congenital generalized lipodystrophy (CGL). However, their pathophysiology is still unclear and theories about their origin remain largely speculative. This article reports on a patient with CGL and cystic bone lesions, some of them with unusual magnetic resonance imaging (MRI) findings that include elevated signal intensity on T1-weighted images and fluid-fluid levels, the latter evolving to a more "classic" cystic appearance on follow-up. Even though similar findings were first described almost 30 years ago, little attention was given to them back then; furthermore, other than the present report, no other study has performed sequential exams to follow their evolution in serial MRI. The authors conduct a review of the literature, hypothesizing that these remarkable findings may reflect an intermediate stage in the process of cystification of the abnormal bone marrow, incapable to perform adipose conversion, lending factual support to the modern theories about this issue. |
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AbstractList | Cystic bone lesions are the hallmark of skeletal abnormalities in patients with congenital generalized lipodystrophy (CGL). However, their pathophysiology is still unclear and theories about their origin remain largely speculative. This article reports on a patient with CGL and cystic bone lesions, some of them with unusual magnetic resonance imaging (MRI) findings that include elevated signal intensity on T1-weighted images and fluid-fluid levels, the latter evolving to a more "classic" cystic appearance on follow-up. Even though similar findings were first described almost 30 years ago, little attention was given to them back then; furthermore, other than the present report, no other study has performed sequential exams to follow their evolution in serial MRI. The authors conduct a review of the literature, hypothesizing that these remarkable findings may reflect an intermediate stage in the process of cystification of the abnormal bone marrow, incapable to perform adipose conversion, lending factual support to the modern theories about this issue. |
Author | Machado, B Teixeira, A T de Oliveira, T C Natal, M |
AuthorAffiliation | 2 Unimed Sul Capixaba Hospital, Cachoeiro de Itapemirim, Brazil 1 Base Hospital of the Federal District, Brasilia, Brazil Tesla Diagnostic Imaging, Brasilia, Brazil |
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Cites_doi | 10.1007/BF00241817 10.1038/nrendo.2015.123 10.1148/rg.325115031 10.1007/s00256-004-0779-5 10.1007/s00256-016-2457-9 10.1016/j.jacl.2018.07.009 10.1007/s00256-011-1147-x 10.1007/s00256-007-0332-4 10.1210/jc.2016-2271 10.5152/dir.2017.17019 |
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Keywords | fluid levels magnetic resonance imaging Berardinelli-Seip syndrome congenital generalized lipodystrophy bone cysts |
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References | Kobashi (R1-20240831) 2007; 36 Altay (R4-20240831) 2017; 23 Capel (R7-20240831) 2018; 12 Patni (R5-20240831) 2015; 11 O'Donnell (R10-20240831) 2004; 33 Gupta (R2-20240831) 2017; 102 Fleckenstein (R3-20240831) 1992; 21 García (R8-20240831) 2011; 40 Teboul-Coré (R6-20240831) 2016; 45 Mannem (R9-20240831) 2012; 32 |
References_xml | – volume: 21 start-page: 381 year: 1992 ident: R3-20240831 article-title: The skeleton in congenital, generalized lipodystrophy: Evaluation using whole-body radiographic surveys, magnetic resonance imaging and technetium-99m bone scintigraphy publication-title: Skeletal Radiol doi: 10.1007/BF00241817 contributor: fullname: Fleckenstein – volume: 11 start-page: 522 year: 2015 ident: R5-20240831 article-title: Congenital generalized lipodystrophies – new insights into metabolic dysfunction publication-title: Nat Rev Endocrinol doi: 10.1038/nrendo.2015.123 contributor: fullname: Patni – volume: 32 start-page: 1523 year: 2012 ident: R9-20240831 article-title: AIRP best cases in radiologic-pathologic correlation: Intraosseous lipoma publication-title: Radiographics doi: 10.1148/rg.325115031 contributor: fullname: Mannem – volume: 33 start-page: 330 year: 2004 ident: R10-20240831 article-title: The prevalence and diagnostic significance of fluid–fluid levels in focal lesions of bone publication-title: Skeletal Radiol doi: 10.1007/s00256-004-0779-5 contributor: fullname: O'Donnell – volume: 45 start-page: 1495 year: 2016 ident: R6-20240831 article-title: Bone imaging findings in genetic and acquired lipodystrophic syndromes: An imaging study of 24 cases publication-title: Skeletal Radiol doi: 10.1007/s00256-016-2457-9 contributor: fullname: Teboul-Coré – volume: 12 start-page: 1420 year: 2018 ident: R7-20240831 article-title: MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue publication-title: J Clin Lipidol doi: 10.1016/j.jacl.2018.07.009 contributor: fullname: Capel – volume: 40 start-page: 1295 year: 2011 ident: R8-20240831 article-title: MRI signal changes of the bone marrow in HIV-infected patients with lipodystrophy: Correlation with clinical parameters publication-title: Skeletal Radiol doi: 10.1007/s00256-011-1147-x contributor: fullname: García – volume: 36 start-page: 999 year: 2007 ident: R1-20240831 article-title: Berardinelli-Seip lipodystrophy publication-title: Skeletal Radiol doi: 10.1007/s00256-007-0332-4 contributor: fullname: Kobashi – volume: 102 start-page: 363 year: 2017 ident: R2-20240831 article-title: Clinical features and management of non-HIV-related lipodystrophy in children: A systematic review publication-title: J Clin Endocrinol Metab doi: 10.1210/jc.2016-2271 contributor: fullname: Gupta – volume: 23 start-page: 428 year: 2017 ident: R4-20240831 article-title: Determining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy publication-title: Diagn Interv Radiol doi: 10.5152/dir.2017.17019 contributor: fullname: Altay |
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Title | Unusual magnetic resonance imaging findings of cystic bone lesions in congenital generalized lipodystrophy |
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