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We observed a 3-month-old Japanese female infant with severe psychomotor retardation, coarse facial appearance, hepatosplenomegaly, and dysostosis multiplex. Only beta-galactosidase was found to be deficient when the routine lysosomal hydrolase assay was performed on the patient's lymphocytes at 6 months of age. At first GM1-gangliosidosis type 1 seemed the most likely diagnosis. Later, however, additional studies (hydrolase assay in cultured skin fibroblasts, urinary oligosaccharide analysis, genetic complementation study, etc.) revealed that biochemical data of this case were in agreement with those of severe infantile sialidosis. The only important exception was that alpha-neuraminidase in the patient's lymphocytes showed normal activity but abnormal pH dependence toward 4-methylumbellyferyl substrate. In addition, a severely damaged kidney suggested that his case may be classified as a unique type of severe infantile sialidosis (possible nephrosialidosis). These observations stress the importance of careful biochemical diagnosis of a case with GM1-gangliosidosis type 1 phenotype.
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