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Scholars Journal of Medical Case Reports | Volume-10 | Issue-11
Vitamin D Dependent Rickets Type IB as a Rare Cause of Rickets, Case Report and Literature Review
Amer O. AL Ali, Mohammed A. Soeid, Aiyl H. Nami, Mohammad Q. Masmali, Abdulaziz M. Safhi, Ahmad A. Majrabi, Marwah A. Agsam, Adil Alsumm, Mohammed A. Mahnashi, Norah A. Haltani, Haitham A. Muharraq, M
Published: Nov. 22, 2022 | 43 36
DOI: 10.36347/sjmcr.2022.v10i11.018
Pages: 1136-1140
Aim: The aim of this paper to report one case with vitamin D-dependent rickets, type IB. Methods: Diagnosis has been established based on physical examination, laboratory findings and radiological examination and confirmed by positive gentic mutation. Results: Here we report a 3 year old Saudi female who present with valgus deformity of the feet and delayed motor development with biochemical, radiological evidence of vitamin D disorders. Since vitamin D level was low she was assumed and treated as being due to vitamin D deficiency and treated with cholecalciferol / one alpha for 1 year, but there was no improvement, latter on referred to us where we did gentic study which show a positive gentic mutation at CYP27B1 confirming diagnosis of Vitamin D dependent Rickets 1B, and treatment with Calcitriol then patient show great improvement within 4 weeks, Alkaline phosphatase and PTH both drop to normal levels. Clinical and radiological evidence of the improvement was seen after 3 months of Calcitriol. Conclusions: In this paper, we raise the awareness that Rickets with low vitamin D25 level not always mean deficiency, especially if patient fail to improve with cholecalciferol, and in such case, a rare inherited disorder of Vitamin D activation and action should be looked for, and gentic study is helpful in such cases.