Spanu F, Saba L. Obesity and pericallosal lipoma in X-linked emery-dreifuss muscular dystrophy: A case report - Does Emerin play a role in adipocyte differentiation? World J Radiol 2018; 10(7): 78-82 [PMID: 30079154 DOI: 10.4329/wjr.v10.i7.78]
Corresponding Author of This Article
Fabio Spanu, MD, Surgeon, Department of Radiology, Azienda Ospedaliero Universitaria, Polo di Monserrato s.s. 554 Monserrato, Cagliari 09045, Italy. docfabio.spanu@gmail.com
Research Domain of This Article
Neurosciences
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Radiol. Jul 28, 2018; 10(7): 78-82 Published online Jul 28, 2018. doi: 10.4329/wjr.v10.i7.78
Obesity and pericallosal lipoma in X-linked emery-dreifuss muscular dystrophy: A case report - Does Emerin play a role in adipocyte differentiation?
Fabio Spanu, Luca Saba
Fabio Spanu, Luca Saba, Department of Radiology, Azienda Ospedaliero Universitaria, Cagliari 09045, Italy
Author contributions: Spanu F designed and wrote the report and collected the patient’s clinical data; Saba L provided the radiologic data, checked the case and reviewed the paper.
Conflict-of-interest statement: All authors have no conflicts of interest to report.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Fabio Spanu, MD, Surgeon, Department of Radiology, Azienda Ospedaliero Universitaria, Polo di Monserrato s.s. 554 Monserrato, Cagliari 09045, Italy. docfabio.spanu@gmail.com
Telephone: +39-705-1096242 Fax: +39-705-6092299
Received: April 25, 2018 Peer-review started: April 25, 2018 First decision: June 6, 2018 Revised: June 11, 2018 Accepted: June 27, 2018 Article in press: June 28, 2018 Published online: July 28, 2018
ARTICLE HIGHLIGHTS
Case characteristics
Spontaneous left arm weakness, objective vertigo, obesity.
Clinical diagnosis
Left arm downward drift associated with local joint pain.
A head NCCT revealed the presence of a left-sided hypodense peri-callosal curvilinear lesion; a CT Angiography ruled out vascular obstructions, while the thoracic scan showed two posterior extradural hypodense lesions at T1-T2. The MRI did not show diffusivity alterations: the curvilinear peri-callosal lesion appeared hyperintense in T1-W and hypointense at fat suppression sequences, without contrast enhancement, thus confirming the lipoma.
Treatment
Rest and painkillers.
Term explanation
Envelopathies: defects of proteins making up the nuclear envelope.
Experiences and lessons
A particular obesity pattern associated with cerebral-spinal lipomas may be related to the same gene defect in patients affected by the Emery-Dreifuss muscular dystrophy X-linked variant. In our case, lipomas may be considered incidental findings, whereas the patient’s symptoms could be related to an initial painful contracture, which is a typical hallmark of the disease.
