Gaucher disease type 1

Gaucher disease type 1 (non-neuropathic) is the most common and least severe form of the disease.

Symptoms may begin early in life or in adulthood and mainly affect the liver, spleen, and bone. Enlarged liver and grossly enlarged spleen (together hepatosplenomegaly) are common; the spleen can rupture and cause additional complications. Skeletal weakness and bone disease may be extensive.

Hamlat et al., 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 gammopathy 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 authors 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 ¹⁾.