Osteopetrorickets: case report

Eur J Pediatr. 2000 Aug;159(8):579-81. doi: 10.1007/s004310000485.

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.

Publication types

  • Case Reports

MeSH terms

  • Alkaline Phosphatase / blood
  • Animals
  • Bone Density
  • Bone Marrow Transplantation
  • Calcium / blood
  • Calcium / urine
  • Consanguinity
  • Disease Models, Animal
  • Female
  • Humans
  • Infant
  • Mice
  • Mutation / genetics
  • Nystagmus, Pathologic / complications
  • Osteopetrosis / complications
  • Osteopetrosis / diagnostic imaging*
  • Osteopetrosis / genetics*
  • Osteopetrosis / metabolism
  • Osteopetrosis / therapy
  • Parathyroid Hormone / blood
  • Phosphorus / blood
  • Rickets / complications
  • Rickets / diagnostic imaging*
  • Rickets / genetics*
  • Rickets / metabolism
  • Rickets / therapy
  • Risk Factors
  • Tomography, X-Ray Computed
  • Vitamin D / analogs & derivatives*
  • Vitamin D / blood

Substances

  • Parathyroid Hormone
  • Vitamin D
  • Phosphorus
  • 25-hydroxyvitamin D
  • Alkaline Phosphatase
  • Calcium