DOI: 10.36347/sjmcr.2023.v11i11.007

Pages: 1944-1948

Aim: The purpose of this paper is to describe one example of type Ia, vitamin D-dependent rickets. Methods: A diagnosis has been made based on physical examination, laboratory results, and radiographic examination. A positive gentic mutation has also been used to corroborate the diagnosis. Results: Here, we present a case of a 2-year-old Saudi girl who exhibits delayed motor development and valgus deformity of the feet together with biochemical and radiographic signs of vitamin D abnormalities. She was initially treated at a peripheral hospital for rickets as Vitamin D deficiency and given cholecalciferol for six months; however, there was little improvement. Later, she was referred to us, and we performed a genetic study that revealed a positive gentic mutation at CYP27B1, confirming the diagnosis of Vitamin D dependent Rickets 1a, and Calcitriol treatment followed. Within 4 weeks, the patient exhibits significant recovery, and both PTH and alkaline phosphatase levels return to normal. After three months of calcitriol treatment, clinical and radiological proof of the improvement was observed. Conclusions: In this research, we raise the knowledge that rickets is not always caused by vitamin deficiency and that early presentations should increase awareness of inherited causes of rickets such VDDR1a that do not react to cholecalciferol and gentic investigation is helpful in such cases.