Obesity and pericallosal lipoma in X-linked emery-dreifuss muscular dystrophy:A case report-Does Emerin play a role in adipocyte differentiation?  

作　　者：Fabio Spanu Luca Saba 

机构地区：[1]Department of Radiology,Azienda Ospedaliero Universitaria

出　　处：《World Journal of Radiology》2018年第7期78-82,共5页世界放射学杂志（英文版）（电子版）

摘　　要：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.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.

关 键 词：Familiar EMERY dreifuss muscular DYSTROPHY EMERIN ADIPOCYTE differentiation Pericallosal LIPOMA Emery-dreifuss-distrophy 

分 类 号：R[医药卫生]