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Related Experiment Videos

Pseudo-(tumor-induced) rickets.

M P Whyte1, M N Podgornik, V A Wollberg

  • 1Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St. Louis, Missouri, USA.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|August 14, 2001
PubMed
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A boy with severe muscle weakness and rickets, initially suspected to be tumor-induced, was successfully treated with phosphate and vitamin D. This case highlights a rare condition, pseudo-(tumor-induced) rickets, without an identifiable tumor.

Area of Science:

  • Pediatric Endocrinology
  • Nephrology
  • Metabolic Bone Disease

Background:

  • Tumor-induced rickets (TIR) is a rare paraneoplastic syndrome causing hypophosphatemia and rickets.
  • Diagnosis often involves identifying a phosphaturic mesenchymal tumor, which can be challenging.
  • This case presents a diagnostic dilemma in a pediatric patient with rickets and hypophosphatemia without a detectable tumor.

Observation:

  • An 8-year-old boy presented with progressive muscle weakness, diagnosed with hypophosphatemia and rickets.
  • Despite extensive investigations, no underlying tumor or other cause for renal phosphate wasting was found.
  • Initial treatment with 1,25-dihydroxyvitamin D3 and phosphate supplementation led to significant clinical and radiographic improvement.

Findings:

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  • The patient showed sustained improvement and normalization of phosphate levels and renal tubular reabsorption.
  • The condition resolved spontaneously as the patient matured, with normalization of bone and mineral homeostasis.
  • This unique presentation suggests a distinct entity, termed pseudo-(tumor-induced) rickets, mimicking TIR but lacking an identifiable neoplastic cause.

    • Implications:

    • Pseudo-(tumor-induced) rickets should be considered in the differential diagnosis of unexplained rickets and hypophosphatemia in children.
    • Early recognition can prevent prolonged, unnecessary investigations for neoplasms and guide appropriate medical management.
    • This case expands the understanding of phosphate-wasting disorders and their management in pediatric populations.