Osteopetrorickets: case report.
We report the case of a baby girl who presented with rickets at 3 months. At the age of 5 months she was readmitted because of nystagmus and a diagnosis of osteopetrosis was made on the basis of clinical and radiological findings. Rickets is a paradoxical feature of osteopetrosis resulting from inability to maintain a normal calcium-phosphorus balance. In our patient the onset of rickets before other symptoms of osteopetrosis suggests a primary defect.


CONCLUSIONS
It is possible that patients with osteopetrosis and rickets (osteopetrorickets) represent a different mutation like the osteopetrosis mouse, which is the only animal mutation with rickets.
Di Rocco
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M
Istituto G. Gaslini, Pediatria II, Largo G Gaslini, Genova, Italy. majadirocco@ospedale-gaslini.ge.it
Buoncompagni
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Loy
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Dellacqua
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D000469:Alkaline Phosphatase / Q000097:blood; D000818:Animals; D015519:Bone Density; D016026:Bone Marrow Transplantation; D002118:Calcium / Q000097:blood / Q000652:urine; D003241:Consanguinity; D004195:Disease Models, Animal; D005260:Female; D006801:Humans; D007223:Infant; D051379:Mice; D009154:Mutation / Q000235:genetics; D009759:Nystagmus, Pathologic / Q000150:complications; D010022:Osteopetrosis / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000378:metabolism / Q000628:therapy; D010281:Parathyroid Hormone / Q000097:blood; D010758:Phosphorus / Q000097:blood; D012279:Rickets / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000378:metabolism / Q000628:therapy; D012307:Risk Factors; D014057:Tomography, X-Ray Computed; D014807:Vitamin D / Q000031:analogs & derivatives* / Q000097:blood
D010281:Parathyroid Hormone; D014807:Vitamin D; D010758:Phosphorus; C104450:25-hydroxyvitamin D; D000469:Alkaline Phosphatase; D002118:Calcium