The adult manifestation of GM1-Gangliosidosis – a case report

Introduction: The GM1-gangliosidosis is a lysosomal storage disease caused by a defect of beta galactosidase. Due to the enzyme defect, an accumulation of GM1 gangliosid occurs preferably in the central nervous system (CNS). Whereas the disease manifestation is typically seen in childhood, there are only few case reports of adult manifestation. Casuistics: We present the clinical course of a 47-years-old woman with an adult onset of GM1 gangliosidosis. In early 2009 the patient came with suspected stroke. She showed symptoms of a central paresis of the left leg. Medical history revealed a complete regredient bra…