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Primary Hyperparathyroidism Masquerading as Rickets.

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Primary hyperparathyroidism (PHPT) is rare in children and often misdiagnosed. This case highlights skeletal issues and the importance of suspecting PHPT in children with rickets unresponsive to supplements.

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Area of Science:

  • Pediatric Endocrinology
  • Skeletal Dysplasias
  • Endocrine Surgery

Background:

  • Primary hyperparathyroidism (PHPT) is uncommon in pediatric populations, frequently leading to diagnostic delays.
  • Common causes in children include hyperplasia, adenoma, or hereditary conditions, often presenting with nonspecific symptoms.

Observation:

  • A 17-year-old male presented with rare skeletal manifestations: genu valgum and bilateral femoral epiphyseal displacement.
  • Initial misdiagnosis as rickets, despite supplementation, prompted re-evaluation revealing hypercalcemia and elevated parathyroid hormone (PTH).
  • Imaging identified increased uptake in the left inferior thyroid lobe, consistent with parathyroid pathology.

Findings:

  • Surgical exploration and histopathology confirmed a parathyroid adenoma as the cause of PHPT.
  • The case illustrates how PHPT can mimic rickets, especially in pediatric patients.
  • Elevated calcium levels during or after supplementation in children diagnosed with rickets should prompt PHPT investigation.

Implications:

  • Early recognition of PHPT in children is crucial to prevent severe skeletal complications and misdiagnosis.
  • This case underscores the need for a high index of suspicion for PHPT in pediatric rickets cases with atypical presentations or poor treatment response.
  • Timely diagnosis and surgical intervention for parathyroid adenoma can resolve PHPT and associated skeletal abnormalities.