I-Cell disease: an unusual cause of gingival enlargement

Dentists have specialised knowledge of the orofacial region and are well placed to identify the signs of general disease which occur in their child patients. A case report is presented in which a patient was diagnosed as suffering from I-Cell disease (mucolipidosis II). The provisional diagnosis of this genetic abnormality was initially made from the presenting gingival appearance. The identification of the oral abnormalities made an important contribution to the diagnosis of this fatal condition.