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Multiple Abusive Fractures in an Infant With a Concurrent Parathyroid Hormone-Related Peptide-Secreting Renal Tumor:
Samir S Keblawi1, Jason N Wright, Jeffrey P Otjen
1From the Multicare, Spokane.
Insights
Evaluating infants with unexplained fractures requires assessing for underlying bone fragility. A rare tumor secreting parathyroid hormone-related peptide (PTHrP) presented with abuse indicators, not bone insufficiency signs.
Area of Science:
- Pediatric Endocrinology
- Pediatric Oncology
- Forensic Pathology
Background:
- Child abuse evaluation necessitates identifying underlying bone fragility causes.
- Differential diagnosis for infant fractures includes metabolic bone diseases and abuse.
Observation:
- A 7-month-old infant with a mesoblastic nephroma secreting parathyroid hormone-related peptide (PTHrP) presented with hypercalcemia and hypophosphatemia.
- The infant exhibited multiple fractures, bruising, and classic metaphyseal lesions, inconsistent with bone insufficiency.
- Radiographic findings were highly suggestive of physical abuse, co-occurring with the hormone-secreting tumor.
Findings:
- Tumor-induced hyperparathyroidism (hyper PTH) did not manifest as demineralization or typical bone changes.
- Fracture patterns and bruising strongly indicated inflicted injury rather than bone fragility from hyper PTH.
- The case highlights the challenge of distinguishing abuse from medical conditions mimicking bone fragility.
Implications:
- Tumor-related hyperparathyroidism (PTHrP) should be considered in infants with unexplained fractures and bone fragility.
- Children with medical conditions predisposing to injury may also be victims of abuse.
- Integrated diagnostic approaches are crucial for accurate assessment in complex pediatric cases.
Background:
When evaluating an infant with unexplained fractures for child abuse, it is important to evaluate for possible causes of underlying bone fragility.
Case:
A 7-month-old infant was found to have a parathyroid hormone (PTH)-related peptide-secreting mesoblastic nephroma. In spite of having an elevated serum calcium, depressed serum phosphate, and high levels of PTH-related peptide, he had no demineralization or other hyper parathyroid-related bone changes. Instead, he had multiple classic metaphyseal lesions, fractures of differing ages including a proximal clavicle fracture, and current and past bruising. No fractures typical of bone insufficiency were present. These findings are highly indicative of abuse in addition to his hormone-secreting tumor.
Conclusions:
In spite of this child's abuse findings, endogenous or tumor-related hyper PTH should be in the differential of underlying bone fragility. Children with disorders that could cause injury susceptibility can also be abused.
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