PMC8064789_01
(a) Short stature, (b) deformities of the lower limb with recent fibular fracture, and (c) MRI cervical spine showing ossification of the anterior longitudinal ligament from C3 to C6 and posterior longitudinal ligaments from C2 to C4 (arrows).
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Due to his short stature of 127 cm and deformed limbs (Figure 1), he had been labelled as having achondroplasia all through his younger years.
Family pedigree of the patient showing affected individuals.
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Given this strong family history (Figure 2), the strong possibility that our patient was suffering from a hereditary hypophosphatemic disorder was raised.
The patient's short neck as indicated by the span of <2 fingerbreadths.
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The operation was technically difficult with limited access due to the inability to extend the patient's rigid neck (Figure 3).
Laboratory trend after parathyroidectomy. (a) Serum calcium and phosphate trend. (b) Serum iPTH trend. (c) Serum creatinine trend.
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He needed continuous intravenous calcium gluconate infusion for 4 days with concurrent high dose of oral calcium carbonate (CaCo3) and calcitriol (Figure 4).
Section showing nodular proliferation of chief cells and oxyphilic cells. The component cells show a palisaded arrangement around blood vessels. (a) Low power. (b) Medium power. (c) High power (H&E, x20): oxyphilic cells show round-to-ovoid nuclei with abundant granular eosinophilic cytoplasm. (d) Chief cells (H&E, x20): chief cells show round nuclei and amphophilic cytoplasm. No nuclear pleomorphism or increased mitotic activity is seen.
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PHEX gene deletion around exon 14 and the breakpoint (ATAGG) of the deletion.
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A novel, previously unreported pathogenic deletion of entire exon 14 (104 bp) as well as partial deletions of IVS13 and IVS14 of the PHEX gene was observed, confirming XLH (Figure 6).