Hypophosphatemic rickets: An unexplained early feature of craniometaphyseal dysplasia.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 37654679.
- Also identified by DOI 10.1016/j.bonr.2023.101707 and PMC identifier 10466911.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
Craniometaphyseal dysplasia (CMD) is an infrequently occurring skeletal dysplasia often caused by a mutation in <i>ANKH</i>. The most common features are early and progressive hyperostosis of craniofacial bones, which may cause obstruction of cranial nerves, and metaphyseal flaring of long bones. Rarely, rickets has been associated with CMD, occurring early in the course of the disease. We report an infant with CMD who presented with elevated serum alkaline phosphatase activity and low serum phosphorus at age 1 month and radiographic changes of rickets at 3 months of age. Further biochemical investigations revealed a high tubular reabsorption of phosphate and suppressed FGF23 level congruent with a deficit of phosphorus availability. Therapy with phosphorus was started at 4 months of age; calcitriol was subsequently added upon emergence of secondary hyperparathyroidism. A heterozygous pathogenic variant in <i>ANKH</i> c.1124_1126del (p.Ser375del) was identified. At 19 months of age therapy was discontinued in view of the corrected biochemical profile and radiographic improvement of rickets. ©The Authors. All rights reserved.