Abstract
The authors report a rare case of type-1 Gaucher disease with neurological and haematological involvement. The first onset was epilepsy, the diagnosis of GD1 was then confirmed and the patient experienced parkinsonism. The biological analysis revealed monoclonal gammapathy and factor-II mutation. The patient's condition worsened due to cauda equina syndrome. Magnetic resonance imaging and surgery revealed an intra-thecal sacral cyst which, to our knowledge, has not been reported previously; therefore, when confronted with the fractures commonly observed in GD1, other unusual causes of spinal cord and root compression should not be overlooked.