Areas Of Northern Sweden Research Articles

Neurological signs in a juvenile form of Gaucher's disease.

SummaryThe occurrence of progressive cerebral symptoms is described in a juvenile form of Gaucher's disease, in a clinical series assessed uniformly. This series is composed of six persons, still living, between the ages of 6 and 20, belonging to four related families, who all come from a limited area in northern Sweden. All 6 patients have shown the same clinical, his to pathological and his to chemical findings, and all have undergone splenectomy. Two spleens were chemically analysed. Their lipid content was typical of Gaucher's disease. All cases developed skeletal changes within 31/2 years of splenectomy.The cerebral signs consisted of mental retardation in 5 cases, psychotic behaviour disorders in 2 cases, generalised rigidity and jerky movement in 5, epilepsy in 3 and a pathological EEG in them all. Similar signs were not found among the children's relatives.The progressive mental and neurological symptoms indicate a diffuse, progressive encephalopathy, which affects the cortical and sub cortical grey matter. The authors think it likely that the cerebral signs have a vascular origin and are caused by deposition of cerebrosides in the adventitital cells of the cerebral blood vessels. Similar cerebral changes have been described in the infantile form of Gaucher's disease. Splenectomy performed at an early age may have been a provocative factor in the development of these hypothetical vascular changes and of the early skeletal changes.