RESUMO
Gaucher disease (GD) is an autosomal recessive disorder characterized by the absence of glucosylceramidase. The accumulation of substrates of this enzyme in the cytoplasm of cells of the phagocytary system causes skeletal and hematologic disorders, and has oral repercussions. This report describes the findings of the oral cavity of an 8-year-old diagnosed with subtype I GD who has been receiving enzyme replacement therapy for the past 6 years without interruption. The report highlights that the child had none of the most common oral disease signs and symptoms, which demonstrates the importance of early diagnosis and continuous treatment. The article also emphasizes that it is important for dentists to recognize oral manifestations of GD (in order to assist in early diagnosis) and understand how to treat the likely oral health conditions of GD patients.
