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Neonatal Transphyseal Fracture
Joseph Junewick, MD FACR
over 7 years ago
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Hypophosphatemic Rickets

Case Detail

Anatomy: Musculoskeletal
Junewick
Joseph Junewick, MD FACR
Diagnostic Category: Metabolic
Created: over 7 years ago
Updated: over 7 years ago
Tags: PEDS
Modality/Study Types: CR
Activities:
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History

15 month old female with bowed legs. She was a full-term infant breast fed for first 6 weeks of life, then advanced to formula and solids. Otherwise no significant family history.


Case Images


Diagnosis

Hypophosphatemic Rickets

Clinical Notes

Phospate – 3.3 (L)
Calcium – 10 (N)
Alkaline Phosphatase 731 (H)
PTH 51 (H)
Vitamin D – 27 (N)

Findings

CR – Genu varum with metaphyseal cupping and flaring.

Discussion

Prematurity, x-linked hypophosphatemia, renal tubular diseased and tumor-induced rickects can all result in phosphate depletion and subsequently rickets. This case represents x-linked hypophospatemia (XLH) although since there was no family history this case represents a new spontaneous mutation. Girls are less severely affected compared to boys.

XLH is also known as vitamin D resistant rickets. Defective degradation of phosphotonin which inhibits resorption of phosphate by the renal tubules and also downregulates 1-alpha-hydroxylase which decreases calcitrol. Treatment with oral phosphate and vitamin D leads to healing of rickets and improved growth although may result in nephrocalcinosis.

Rachitic changes are seen in the rapidly growing bones; findings of secondary hyperparathyroidism are usually absent since calcium levels are normal. Bowing of the lower extremities with buttressing of the concave side is often seen. Looser zones are lucent lines perpendicular to the cortex at points of stress (these may or may not result in a stress fracture). Osteopenia is not as common in XLH as in other forms of rickets. Older patients may get calcification of joint capsules, enthesiopathic calcifications or premature hypertrophic skeletal hyperostosis.

Reference

Shore RM. Metabolic Bone Disease. Caffey’s Pediatric Diagnostic Imaging, 11th Ed. Mosby-Elsevier 2008.



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