Vitamin D-resistant rickets

Case contributed by Dr. Roy Waknin

Presentation

Presented to the ED with wrist swelling.

Patient Data

Age: 8 months
Gender: Female

Radiographic imaging of right wrist at presentation

X-ray

The alignment is normal. Diffuse osteopenia.

Diffuse cortical thinning in the radial and ulnar shafts, metacarpals and in the visible proximal phalanges.

Cupping, fraying and splaying of the distal radial and ulnar metaphyses. 

Diffuse soft tissue prominence adjoining the distal radial and ulnar metaphyses due to cartilage overgrowth.

Radiographic imaging of right knee at presentation

X-ray

The alignment is normal. Diffuse osteopenia, mainly at the epiphyses.

Diffuse cortical thinning in the distal femoral and proximal tibial and fibular shafts.

Cupping, fraying and splaying of the distal femoral and proximal tibial and fibular metaphyses. 

Widened physis and zone of provisional calcification in the distal femur and proximal tibia.

Radiographic imaging of right knee at 2 weeks after treatment

X-ray

After 2 weeks of treatment, there is new bone formation in the zone of provisional calcification in the distal femur and proximal tibia, and is consistent with healing rickets.

Case Discussion

This 8-month-old female presented with wrist swelling. Radiographic imaging of the wrist and knee revealed characteristic signs of rickets, including metaphyseal cupping, fraying and splaying of the long bones.

Laboratory workup showed hypophosphatemia, mild hypocalcemia, and mildly reduced vitamin D levels. Given no signs of nutritional deficiency, the diagnosis of vitamin D-resistant rickets (X-linked hypophosphatemic rickets) was made.

She was treated with 1,25-dihydroxyvitamin D3 with rapid interval improvement and characteristic signs of healing with new bone formation in the zone of provisional calcification, as evident on knee imaging.

 

This case was submitted with supervision and input from:

Soni C Chawla, M.D.
Associate Professor
Department of Radiological Sciences
David Geffen School of medicine at UCLA
Olive View-UCLA Medical Center

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