Case Report
Copyright ©The Author(s) 2018. Published by Baishideng Publishing Group Inc. All rights reserved.
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
Processing time: 96 Days and 16.5 Hours
Abstract

Emery dreifuss muscular dystrophy (EDMD) is a rare genetic syndrome consisting of tendon retractions, progressive muscle atrophy and cardiac involvement. We report a case of an obese patient affected by the familial X-linked form in which a pericallosal lipoma was found during investigation for a suspected acute vasculopathy. To date, EDMD has never been associated with cerebral lipomas and the X-linked form was never considered to be involved in lipodystrophic syndromes or non-muscular conditions. Our case confirms the variable expressivity of the disease and suggests a possible role of Emerin in the intranuclear regulation of signals for adipocyte cell differentiation.

Keywords: Familiar emery dreifuss muscular dystrophy; Emerin; Adipocyte differentiation; Pericallosal lipoma; Emery-dreifuss-distrophy

Core tip: To date, emery dreifuss muscular dystrophy has never been associated with cerebral lipomas, and the X-linked form was never considered to be involved in extra-muscular syndromes. We presented a case of a patient affected by the X-linked form with a particular adipose tissue distribution and a cerebral and spinal lipoma, thus suggesting a possible role of Emerin in the intranuclear regulation of signals for cell differentiation, or in lipidic intracellular dysmetabolism when absent.