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Neurofibromatosis, pathological fracture and hypervitaminosis-D

Rakesh Mondal1, Madhumita Nandi, P K Chandra

  • 1Department of Pediatric Medicine, IPGMER and SSKM Hospital, Kolkata, West Bengal, India.

Indian Pediatrics
|November 5, 2010
PubMed

Insights

Pathologic fractures in children can signal rare conditions like neurofibromatosis. Misdiagnosing this as rickets and supplementing with Vitamin D can lead to dangerous hypervitaminosis D.

Area of Science:

  • Pediatric Orthopedics
  • Medical Genetics
  • Pediatric Endocrinology

Background:

  • Pathologic fractures in children present a diagnostic challenge, with diverse underlying etiologies.
  • Neurofibromatosis is a rare genetic disorder that can manifest with skeletal abnormalities, including pathologic fractures.

Observation:

  • A pediatric case presented with a pathologic fracture, initially suspected to be rickets.
  • The patient received Vitamin D supplementation based on the initial misdiagnosis.

Findings:

  • The underlying cause of the fracture was identified as neurofibromatosis.
  • Aggressive Vitamin D supplementation in this context resulted in iatrogenic hypervitaminosis D, a serious complication.

Implications:

  • Highlights the importance of considering rare genetic disorders in the differential diagnosis of pediatric pathologic fractures.
  • Underscores the potential dangers of misdiagnosis and inappropriate treatment, particularly concerning Vitamin D supplementation in children.
  • Emphasizes the need for thorough diagnostic evaluation to prevent iatrogenic complications in pediatric skeletal conditions.

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