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Spiral Fracture in Young Infant Causing a Diagnostic Dilemma: Nutritional Rickets versus Child Abuse
Sonia Kaushal1, Manish Raisingani1, Raphael David1
1New York University School of Medicine, New York, NY, USA.
Insights
Nutritional rickets can occur in young infants, even without typical radiologic signs. Maternal and infant vitamin D deficiency can lead to fractures and bone disease.
Area of Science:
- Pediatrics
- Endocrinology
- Radiology
Background:
- Fractures in nonambulatory infants raise concerns for nonaccidental injury (NAI) or metabolic bone disease.
- Rickets, a form of metabolic bone disease, typically presents after six months but has been reported in younger infants.
Observation:
- An 11-week-old infant presented with a humerus fracture but no radiographic evidence of rickets.
- Biochemical tests revealed elevated alkaline phosphatase and parathyroid hormone (PTH), with low 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D levels.
- The infant's mother had low vitamin D levels and was noncompliant with prenatal vitamins and infant supplementation.
Findings:
- The clinical presentation and laboratory values were consistent with nutritional rickets due to maternal-fetal hypovitaminosis D.
- Treatment with ergocalciferol normalized laboratory values and healed the fracture.
- This case demonstrates nutritional rickets in an infant younger than six months without classic radiographic findings.
Implications:
- Rickets should be considered in young infants presenting with fractures, even without clear radiologic evidence.
- Adequate vitamin D supplementation during pregnancy and infancy is crucial to prevent maternal-fetal hypovitaminosis D.
- Early diagnosis and treatment of rickets are essential for bone health in infants.
Abstract:
Fractures are uncommon in young, nonambulatory infants. The differential diagnosis includes nonaccidental injury (NAI) and metabolic bone disease, including rickets. While rickets typically present after six months of age, multiple cases have been reported in younger infants. We report a case of an 11-week-old male infant who presented with a spiral fracture of the humerus and no radiologic evidence of rickets. A detailed psychosocial assessment failed to reveal any risk factors for NAI. The patient had elevated alkaline phosphatase and PTH with low 25 hydroxyvitamin D and 1,25 dihydroxyvitamin D levels. Additionally, the mother was noncompliant with prenatal vitamins, exclusively breastfeeding without vitamin D supplementation, and had markedly low vitamin D levels 15 weeks postpartum. The biochemical data and history were consistent with rickets. Given the diagnostic dilemma, the working diagnosis was rickets and the patient was started on ergocalciferol with subsequent normalization of his laboratory values and healing of the fracture. These findings are consistent with nutritional rickets largely due to maternal-fetal hypovitaminosis D. This case highlights that in young infants rickets should be considered even in the absence of positive radiologic findings. Additionally, it illustrates the importance of maintaining adequate vitamin D supplementation during pregnancy and early infancy.
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