The first neonatal case of Juvenile Paget disease with homozygous deletion in the TNFRSF11B gene.

J Pediatr Endocrinol MetabMay 12, 2026 (epub)
Case ReportMedical GeneticsPediatrics

Erbu Yarci, Betul Turen, Didem Ozturk Yarci et al.

✦ AI-curated · Sources linked

Case in brief

A male newborn, born at 31 1/7 weeks gestation, presented with respiratory distress and varus deformity of the lower extremities. Radiographic findings revealed diffuse osteosclerosis in long bones. Notably, serum alkaline phosphatase levels increased rapidly, prompting further investigation. Chromosomal microarray analysis identified a homozygous deletion in the TNFRSF11B gene, confirming a diagnosis of Juvenile Paget disease.

Diagnostic / clinical pearl

Juvenile Paget disease should be considered in neonates presenting with bone deformities and significant increases in alkaline phosphatase levels.

Source

PubMed · PMID 42112796

Published in J Pediatr Endocrinol Metab. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

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