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