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.
引文
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