• An-Qi Liu, Li-Shu Zhang, Hao Guo, Mei-Ling Wu, Tian-Yi Li, Kun Xuan, and Ke-Wen Wei.
• State Key Laboratory of Military Stomatology and National Clinical Research Center for Oral Diseases and Shaanxi Clinical Research Center for Oral Diseases, Department of Preventive Dentistry, School of Stomatology.
• Medicine (Baltimore). 2020 Oct 9; 99 (41): e22508.

RationaleVitamin D-dependent rickets type I (VDDR-I) is a rare form of rickets, which is an autosomal recessive disease caused by 1α-hydroxylase enzyme deficiency. However, long-term dental management and microscopic morphology of teeth remain largely unclear.Patient ConcernsWe report the case of a 10-year-old Chinese boy complaining of yellowish-brown teeth with extensive caries.DiagnosesClinical and laboratory examinations were performed, and VDDR-I was confirmed. Scanning electron microscopy confirmed amelogenesis imperfecta.InterventionsThe patient had been taking drugs intervention for VDDR-I from the age of 3 years. The decayed teeth were treated, and metal-preformed crowns were placed to prevent further impairment. Sequence tooth extraction and remineralization therapy were also performed.OutcomesAfter 3 years of follow-up, the patient exhibited normal tooth replacement and an acceptable oral hygiene status. However, the new erupted teeth had amelogenesis imperfecta.LessonsThis case is the first to confirm amelogenesis imperfecta in a patient with VDDR-I that was not prevented by drug intervention. Importantly, it provides evidence that long-term dental intervention in patients with VDDR-I can result in an acceptable oral hygiene status. Therefore, early and long-term dental intervention is necessary in VDDR-I patients.

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