Журнал генетических синдромов и генной терапии
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Unusual Enamel Hypoplasia Associated with Teeth Mobility in a 13 Year Old Girl with Wilson Disease

Nehal F. Hassib, Maie A. Mahmoud, Nevin M. Talaat and Tarek H. El-Badry

Wilson disease is an autosomal recessive disorder caused by mutations in the ATP7B gene. It is characterized by the progressive accumulation of copper in the body leading to liver cirrhosis and neuropsychological deterioration. This case may be the first one reported Wilson disease in association with remarkable enamel hypoplasia and teeth mobility leading to severe teeth destruction and pulp exposure. The objective of this investigation was to introduce the dental management for a 13 year old female patient with Wilson disease. The patients restored her smile and she was highly satisfied of the dental work. In conclusion, the dental management of patients with Wilson disease should become the focus of research because of the difficulty in patients’ management as our patient was suffering from dystonia restricting the mouth opening and in addition of being a mouth breather which affected the time and quality of the dental work