Skin biopsy: a useful tool in the diagnosis of lysosomal storage diseases

Abstract

In this report, the authors summarize their 19-year experience with over 200 biochemically proven cases of lysosomal storage diseases using electron microscopic screening of more than 950 skin biopsies. They found that electron microscopy (EM) is a highly sensitive, efficient, cost-effective, and rapid diagnostic screening tool for evaluation of lysosomal storage diseases in skin biopsies. Although EM is more expensive than a single enzyme assay, it can exclude more than 90% of cases in which lysosomal storage disease is being considered. EM is critical for diagnosis of neuronal ceroid lipofuscinosis and mucolipidosis IV and is the most cost-effective screening tool in patients with previously unrecognized storage diseases.