Lab Studies:
Basic metabolic panel normal
<br>Calcium, Magnesium within normal limits. Phos 2.7 (L), Vit D normal, PTH 74 (H), ALP 556 (H). Urine: Calcium 2.5, Phos 63.8, Mag 5.0, Cr 46.9, Sodium 262.
Other Studies:
Bilateral knee x-ray: Prominent genu valgum with areas of lucency on the lateral aspect of the medial femoral condyle of the right knee, in addition to on the lateral aspect of the medial femoral condyle and on the medial aspect of the lateral femoral condyle of the left knee. <a href="CaseStudyImages/CS1TheKneediestPuzzl-1308.jpg" title="Case Photo #1" data-lity><b>Case Photo #1</b></a> <a href="CaseStudyImages/CS2CS1TheKneediestPu-1308.jpg" title="Case Photo #2" data-lity><b>Case Photo #2</b></a>
<br>Long Leg bilateral x-ray: 8 degrees of valgus on right axis and 10 degrees of valgus on the left axis. <a href="CaseStudyImages/CS3CS2CS1TheKneedies-1308.jpg" title="Case Photo #3" data-lity><b>Case Photo #3</b></a>
<br>Left knee MRI: Small joint effusion.
<br>Genetic: Heterozygous mutation in PHEX.
Consultations:
Pediatric Endocrinology
Click here to continue. Challenge yourself by writing down a revised, working diagnosis before moving to the next slide.