ABSTRACT
Objective To explore the pathogenic course,clinical features and prognosis on hallervorden spatz disease(HSD).Methods To review and sum up clinical data of three patients of 1985 with HSD in one family,and followed up survey in 2001.Results The same parents had three(2 males,1 female) of six children who were suffered from HSD.Clinical features include bilateral pigmentary degeneration of the retina,optic atrophy and progressive dementia,and lay in bed after several years with convulsive seizure,opisthotonus,limb rigidity,hyperreflexia, pyramidal sign positive;they were suited therapy to the illness.2 cases for death,another case for progressive deterioration,the patient lost labour ability and couldn't take care of himself.Conclusion HSD is kindred hereditary disorder,major cases occur the symptoms before 20 years old (progressive deterioration).After attacking about 20 years the patients died.The HSD gene located on chromosome 20p12.3 p13.