A 6 years old with rickets

Author: Ira Shah
Case: - A 6 years old girl born of non consanguineous marriage presented with rachitic changes in limbs since 1½ years of age for which he has received multiple courses of vitamin D. There is no polyuria. He had fracture of right hand 1½ years back. His birth history and milestones are normal. On examination, he has frank rickets with knock knees. Other systems are normal. Investigations are depicted below:
• 25 {OH} Vitamin D3 = 32.5 {Normal}
• 1,25 dihydroxy Vitamin D3 = 52.2 {Normal}
• Calcium = 9.5 mg, dl, Phosphorus = 3.6 mg, dl
• Alkaline phosphatase = 414 IU, L {elevated}
• Serum parathyroid hormone = 24.2 {Normal}
• S. electrolytes, creatinine and blood gases = Normal
• X-Ray = Suggestive of fibrous dysplasia or ollier’s disease.

What is the diagnosis_?

Answer Discussion :
N Swapnacas
VIT D resistant Rickets
6 years ago
Hala AlRimawi
vitamin D risistance rickets
6 years ago

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