Riga-Fede disease associated with Fabry’s disease and Niemann-Pick C disease in a boy with microcephaly: A case report

摘要

A 16-month-old Saudi boy has microcephaly and three rare genetic diseases [Riga Fede disease (RFD), Niemann-Pick C disease, and Fabry disease. In the published literature, there is no reported case with these four associations, especially RFD affection of the dorsal surface of the tongue. It is also a clear demonstration of how the proper diagnosis and treatment could provide a better quality of life, ease pain, resources, and money saving. The difficult RDF ulcer was resolved by a conservative treatment, which was accomplished by smoothing sharp edges and removing mamelons of the lower primary incisors using a diamond bur in a high-speed dental handpiece. The aim of this report is to present and discuss steps of diagnosis and the effect of misdiagnosis on the management of a very rare case.