Gargoyle-like features in lysosomal diseases involving glycosaminoglycans

Excerpt

Lysosomal diseases are characterized by the accumulation of large undegraded substances in the lysosomes of cells of the body, causing a number of clinical abnormalities in various districts as central nervous system, bones, and skin. They all lead to marked craniofacial dysproportion, and the term “gargoyle” has been frequently used to sketch faces of these children, resembling the grotesque decorations of many buildings in Italy, France, Belgium, Greece, and Egypt. These sculptures in limestone or marble were firstly conceived as water drainpipes or gutters acting as rainsprouts, and their name is due to the “gurgling” sound of water, which went across them [1]. They were often depicted as monkeyish creatures, pygmy dragons, or combinations of real animals and humans and placed on mansions or as ornaments over fountains, rooftops (cover picture), medieval doorways, under balconies (Fig. 1), and near spires of Gothic cathedrals, where they were believed to scare off evil spirits.

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