A Scoring System for the Diagnosis of Lysosomal Storage Diseases: A Preliminary Study on the Basis of 100 Cases

Abstract

AbstractThe clinical records of 515 patients for the biochemical diagnosis of lysosomal diseases were reviewed with regard to 22 major clinical manifestations and laboratory data, and a comparative study was performed between lysosomal diseases (100 patients) and other nonlysosomal diseases with similar clinical manifestations (415 patients). The incidences of the 22 clinical findings were calculated in each group, and the relative ratio of the incidences in these 2 groups was designated as a positive sign index. The scores of this index were found to be specifically high in some clinical data of the patients with lysosomal storage diseases. The total scores clearly discriminated between these 2 disease groups, although there was a small overlap between them. This preliminary study can be expanded to diseases of other categories and assist the clinical diagnosis of rare diseases by general pediatricians.