CHRONIC GM1 GANGLIOSIDOSIS PRESENTING AS DYSTONIA - CLINICAL AND BIOCHEMICAL-STUDIES IN A NEW CASE

Clinical and biochemical findings in a patient affected by chronic GM1 gangliosidosis, presenting as progressive dystonia and mental deterio ration, are reported. The patient, a 13-year-old male, showed, at the age of 3 years, an impairment of gait with frequent falls, dysarthria and stuttering. At the age of 6, writing dystonia appeared and subsequ ently mental deterioration and dystonic postures of arms and legs beca me evident. The clinical features presented by this patient are simila r to those shown by the cases of adult/chronic GM1 gangliosidosis prev iously reported except for the early onset. This observation emphasize s the occurrence of dystonia as prominent symptom in chronic GM1 gangl iosidosis, underlining that this disease must be considered in the dia gnostic approach to the progressive dystonias of the early infancy.