Medical Genetics

European Journal of Pediatrics

, Volume 152, Issue 10, pp 818-821

First online:

Failure of calcitriol treatment in a patient with malignant osteopetrosis

  • E. M. van Lie PetersAffiliated withDepartment of Paediatrics, Academic Hospital Leyden
  • , D. C. AronsonAffiliated withDepartment of Paediatric Surgery, Academic Medical Centre
  • , V. EvertsAffiliated withExperimental Oral Biology Group, Laboratory of Cell Biology and Histology, University of Amsterdam
  • , L. J. DoorenAffiliated withDepartment of Paediatrics, Academic Hospital Leyden

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In an attempt to stimulate bone resportion, a 10-week-old infant with malignant infantile osteopetrosis was treated with high doses of calcitriol, a potent bone resorption stimulatory agent, combined with a low calcium diet to prevent hypercalcaemia. Although calcitriol administration was initiated at this very young age, our patient did not show any clinical, radiological, or histological improvement. Despite reports of positive results of this treatment in the literature, our patient did not reveal any signs of bone resorption. She eventually died from the complications of osteopetrosis at the age of 6 months after 88 days of therapy.

Key words

Malignant infantile osteopetrosis Calcitriol