The Diagnostic Value of Isolated Urinary Mucopolysaccharides and of Lymphocyte Inclusions in Gargoylism

Abstract

A comparison has been made between the abnormal urinary mucopolysaccharide excretion and intracellular metachromatic lymphocyte inclusions in 11 patients with suggestive clinical and radiological symptoms of gargoylism. Seven patients excreted abnormal amounts of hyaluronidase-resistant sulphated mucopolysaccharides. All these patients had metachromatic inclusions in a proportion of their lymphocytes. The mucopolysaccharide excretion of the 4 remaining patients was both qualitatively and quantitatively similar to that of the normal subjects tested. No inclusions were found in the lymphocytes of these patients. A diagnosis of gargoylism had therefore to be discarded. The metachromatic lymphocyte inclusions seem to offer a diagnostic test which so far has been completely confirmed by the biochemical findings of abnormal urinary sulphated mucopolysaccharides.