A pediatric hypophosphatemic rickets on MRI , Tc - MDP 18 bone scan and F - FDG PET / CT
- Changyun Xu BA, Chao Ma, Yongli Bai
INTRODUCTION X-linked hypophosphatemia (XLH) is characterized by renal phosphate wasting with hypophosphatemia, short stature, and rachitic manifestations. CLINICAL PICTURE We describe a novel nonsense mutation in exon 3 of the PHEX gene (Glu(96)X (c.286G>T) causing XLH in a mother and daughter of Indian ancestry. The mother was noted to have concomitant vitamin D insufficiency. CONCLUSION Our report identifies a novel nonsense mutation in the PHEX gene causing XLH. It also highlights the fact that the presence of concomitant vitamin D insufficiency should not preclude the diagnosis of familial forms of hypophosphatemic rickets, especially if more than one family member is affected.