A case of gargoylism with pathologic study

Abstract

A typical case of gargoylism with clinical, X-rays and pathological findings, occurring in an eleven year old boy is reported. An abnormal substance of mucopolysacharide character was present in RES, hepatic, cartilage and nervous cells. Histologically, this substance showed morphological variations which were interpreted as an indication of metabolic activity. The several morphological features of the case were correlated with clinical and X-rays data.