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
Summary
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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