The case for today is a 7 year old girl with hypophosphatemic Rickets.
Genotyping is not available (no other family members affected here). After clinical and biochemical diagnosis, patients are treated with phosphorus and vitamin D.
This young girl was noted to have bowing of her legs at age 3 and was referred to the clinic by the orthopedic surgeons. Her Xrays at the time demonstrated bowing of the femur with the coarse trabecular pattern distally, as well as fraying of the metaphysis.
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| At diagnosis of hypophosphatemic rickets |
She has been taking 1gm of phosphorus 4 times daily as well as 1 alpha hydroxyl cholecalciferol (which is 25 hydroxylated in the liver; calcitriol is not available here). Her growth has been steady and her f/u Xrays showed marked improvement, with resolution of the coarse trabecular pattern.
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| Pre and post treatment Xrays |
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