Published online Jul 28, 2018. doi: 10.4329/wjr.v10.i7.78
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
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.
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.