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Old 03-22-2012
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Question Calcified Cartilage with Renal Tubular Acidosis!

A 4-month-old infant with bronchiolitis presents to the clinic. A pelvic scan is shown below. A bone biopsy showed persistence of calcified cartilage. The infant also had a mixed proximal and distal renal tubular acidosis requiring as much as 12 mEq/kg per day of sodium bicarbonate.

What is the most likely diagnosis?

Calcified Cartilage with Renal Tubular Acidosis!-osteopetrosis_pelvis_x-ray.png
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Old 03-22-2012
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Fanconi Syndrome?


there is osteoporosis / due loss of Ca /... maybe Hypophosphatemic rickets

and i see spina bifida too.
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Last edited by beka-CTS; 03-22-2012 at 03:48 AM.
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Old 03-22-2012
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osteopetrosis?
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Old 03-22-2012
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Case report 668. Carbonic anhydrase II deficiency syndrome (osteopetrosis associated with renal tubular acidosis and cerebral calcification).
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