A case of papilledema in Camurati-Engelmann disease treated effectively with prednisolone
Camurati-Engelmann disease (CED) causes bone pain, muscle weakness, and cranial nerve symptoms due to abnormal thickening of the long bones of the limbs and the cortex of the skull. The pathophysiology of CED is a gain-of-function variant of transforming growth factor beta 1 (TGFB1). The ophthalmolo...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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The Japanese Society for Pediatric Endocrinology
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10288297/ https://www.ncbi.nlm.nih.gov/pubmed/37362159 http://dx.doi.org/10.1297/cpe.2023-0009 |
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author | Asai, Maho Gomi, Akira Ibaraki, Nobuhiro Watanabe, Hideaki Kikkawa, Ichiro Nakamata, Akihiro Tajima, Toshihiro |
author_facet | Asai, Maho Gomi, Akira Ibaraki, Nobuhiro Watanabe, Hideaki Kikkawa, Ichiro Nakamata, Akihiro Tajima, Toshihiro |
author_sort | Asai, Maho |
collection | PubMed |
description | Camurati-Engelmann disease (CED) causes bone pain, muscle weakness, and cranial nerve symptoms due to abnormal thickening of the long bones of the limbs and the cortex of the skull. The pathophysiology of CED is a gain-of-function variant of transforming growth factor beta 1 (TGFB1). The ophthalmological symptoms of CED are usually caused by increased intracranial pressure and optic canal stenosis. Here, we report the case of a patient in whom prednisolone was effective against papilledema caused by CED. In this case, when papilledema was observed in both fundi, the patient showed increased bone pain, fever, and elevated CRP and ALP levels. Brain magnetic resonance imaging (MRI) revealed a high short tau inversion recovery (STIR) signal in both optic nerves, suggesting edematous changes. Prednisolone ameliorated bone pain, fever, and papilledema, resulting in a slight improvement of the visual function of the right eye. Our results suggest that prednisolone may be effective in treating ophthalmologic symptoms in addition to bone pain in patients with CED. |
format | Online Article Text |
id | pubmed-10288297 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | The Japanese Society for Pediatric Endocrinology |
record_format | MEDLINE/PubMed |
spelling | pubmed-102882972023-06-24 A case of papilledema in Camurati-Engelmann disease treated effectively with prednisolone Asai, Maho Gomi, Akira Ibaraki, Nobuhiro Watanabe, Hideaki Kikkawa, Ichiro Nakamata, Akihiro Tajima, Toshihiro Clin Pediatr Endocrinol Case Report Camurati-Engelmann disease (CED) causes bone pain, muscle weakness, and cranial nerve symptoms due to abnormal thickening of the long bones of the limbs and the cortex of the skull. The pathophysiology of CED is a gain-of-function variant of transforming growth factor beta 1 (TGFB1). The ophthalmological symptoms of CED are usually caused by increased intracranial pressure and optic canal stenosis. Here, we report the case of a patient in whom prednisolone was effective against papilledema caused by CED. In this case, when papilledema was observed in both fundi, the patient showed increased bone pain, fever, and elevated CRP and ALP levels. Brain magnetic resonance imaging (MRI) revealed a high short tau inversion recovery (STIR) signal in both optic nerves, suggesting edematous changes. Prednisolone ameliorated bone pain, fever, and papilledema, resulting in a slight improvement of the visual function of the right eye. Our results suggest that prednisolone may be effective in treating ophthalmologic symptoms in addition to bone pain in patients with CED. The Japanese Society for Pediatric Endocrinology 2023-04-28 2023 /pmc/articles/PMC10288297/ /pubmed/37362159 http://dx.doi.org/10.1297/cpe.2023-0009 Text en 2023©The Japanese Society for Pediatric Endocrinology https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives (by-nc-nd) License. (CC-BY-NC-ND 4.0: http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ). |
spellingShingle | Case Report Asai, Maho Gomi, Akira Ibaraki, Nobuhiro Watanabe, Hideaki Kikkawa, Ichiro Nakamata, Akihiro Tajima, Toshihiro A case of papilledema in Camurati-Engelmann disease treated effectively with prednisolone |
title | A case of papilledema in Camurati-Engelmann disease treated effectively with
prednisolone |
title_full | A case of papilledema in Camurati-Engelmann disease treated effectively with
prednisolone |
title_fullStr | A case of papilledema in Camurati-Engelmann disease treated effectively with
prednisolone |
title_full_unstemmed | A case of papilledema in Camurati-Engelmann disease treated effectively with
prednisolone |
title_short | A case of papilledema in Camurati-Engelmann disease treated effectively with
prednisolone |
title_sort | case of papilledema in camurati-engelmann disease treated effectively with
prednisolone |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10288297/ https://www.ncbi.nlm.nih.gov/pubmed/37362159 http://dx.doi.org/10.1297/cpe.2023-0009 |
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