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Seipin-linked congenital generalized lipodystrophy type 2: a rare case with multiple lytic and pseudo-osteopoikilosis lesions
Congenital generalized lipodystrophy (CGL), or Berardinelli–Seip syndrome (BSCL), is a part of lipodystrophic syndromes that constitute a heterogeneous group of genetic or acquired generalized or partial body fat loss disorders. It is a rare autosomal recessive disease characterized by a near-absenc...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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SAGE Publications
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6906354/ https://www.ncbi.nlm.nih.gov/pubmed/31853371 http://dx.doi.org/10.1177/2058460119892407 |
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author | Yamamoto, Asako Kusakabe, Toru Sato, Kenji Tokizaki, Toru Sakurai, Keita Abe, Satoshi |
author_facet | Yamamoto, Asako Kusakabe, Toru Sato, Kenji Tokizaki, Toru Sakurai, Keita Abe, Satoshi |
author_sort | Yamamoto, Asako |
collection | PubMed |
description | Congenital generalized lipodystrophy (CGL), or Berardinelli–Seip syndrome (BSCL), is a part of lipodystrophic syndromes that constitute a heterogeneous group of genetic or acquired generalized or partial body fat loss disorders. It is a rare autosomal recessive disease characterized by a near-absence of adipose tissue from birth or early infancy and severe insulin resistance. CGL is classified as type 1–4, depending on the gene involved, and bone lytic lesion is found frequently in type 1 especially in long bones, but reported to be rare in type 2. Here we report an active lifestyle 25-year-old woman with type 2 CGL showing multiple bone lytic and pseudo-osteopoikilosis lesions in hands and feet. Radiograph bone survey showed no apparent abnormality in pelvic bone or axial skeletons. Bone marrow was completely absent and extra-skeletal general fat loss was also evident in whole-body magnetic resonance imaging sparing the orbital, axial, sole, and palmar regions. Radiographic bone survey is important even for type 2 CGL to find the change of bones to provide direction of preventing excessive overload or activity. |
format | Online Article Text |
id | pubmed-6906354 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | SAGE Publications |
record_format | MEDLINE/PubMed |
spelling | pubmed-69063542019-12-18 Seipin-linked congenital generalized lipodystrophy type 2: a rare case with multiple lytic and pseudo-osteopoikilosis lesions Yamamoto, Asako Kusakabe, Toru Sato, Kenji Tokizaki, Toru Sakurai, Keita Abe, Satoshi Acta Radiol Open Case Report Congenital generalized lipodystrophy (CGL), or Berardinelli–Seip syndrome (BSCL), is a part of lipodystrophic syndromes that constitute a heterogeneous group of genetic or acquired generalized or partial body fat loss disorders. It is a rare autosomal recessive disease characterized by a near-absence of adipose tissue from birth or early infancy and severe insulin resistance. CGL is classified as type 1–4, depending on the gene involved, and bone lytic lesion is found frequently in type 1 especially in long bones, but reported to be rare in type 2. Here we report an active lifestyle 25-year-old woman with type 2 CGL showing multiple bone lytic and pseudo-osteopoikilosis lesions in hands and feet. Radiograph bone survey showed no apparent abnormality in pelvic bone or axial skeletons. Bone marrow was completely absent and extra-skeletal general fat loss was also evident in whole-body magnetic resonance imaging sparing the orbital, axial, sole, and palmar regions. Radiographic bone survey is important even for type 2 CGL to find the change of bones to provide direction of preventing excessive overload or activity. SAGE Publications 2019-12-11 /pmc/articles/PMC6906354/ /pubmed/31853371 http://dx.doi.org/10.1177/2058460119892407 Text en © The Foundation Acta Radiologica 2019 https://creativecommons.org/licenses/by-nc/4.0/ Creative Commons Non Commercial CC BY-NC: This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage). |
spellingShingle | Case Report Yamamoto, Asako Kusakabe, Toru Sato, Kenji Tokizaki, Toru Sakurai, Keita Abe, Satoshi Seipin-linked congenital generalized lipodystrophy type 2: a rare case with multiple lytic and pseudo-osteopoikilosis lesions |
title | Seipin-linked congenital generalized lipodystrophy type 2: a rare
case with multiple lytic and pseudo-osteopoikilosis lesions |
title_full | Seipin-linked congenital generalized lipodystrophy type 2: a rare
case with multiple lytic and pseudo-osteopoikilosis lesions |
title_fullStr | Seipin-linked congenital generalized lipodystrophy type 2: a rare
case with multiple lytic and pseudo-osteopoikilosis lesions |
title_full_unstemmed | Seipin-linked congenital generalized lipodystrophy type 2: a rare
case with multiple lytic and pseudo-osteopoikilosis lesions |
title_short | Seipin-linked congenital generalized lipodystrophy type 2: a rare
case with multiple lytic and pseudo-osteopoikilosis lesions |
title_sort | seipin-linked congenital generalized lipodystrophy type 2: a rare
case with multiple lytic and pseudo-osteopoikilosis lesions |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6906354/ https://www.ncbi.nlm.nih.gov/pubmed/31853371 http://dx.doi.org/10.1177/2058460119892407 |
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