Abstract
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. Conclusion: 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.
Original language | English |
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Pages (from-to) | 579-581 |
Number of pages | 3 |
Journal | European Journal of Pediatrics |
Volume | 159 |
Issue number | 8 |
DOIs | |
Publication status | Published - 2000 |
Keywords
- Osteopetrosis
- Rickets
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health