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

Erbu Yarcı; Betul Turen; Didem Ozturk Yarci; HATİCE DİLEK CAN GÖKALP; Oznur Yilmaz Bayer; Gökalp Şenol; Bayram Ali̇ Dorum

doi:10.1515/jpem-2026-0056

May 11, 2026Journal of Pediatric Endocrinology and Metabolism

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

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Key Points

To highlight a rare neonatal case of juvenile paget disease due to homozygous deletion in the TNFRSF11B gene.
Presentation of a neonatal case
Assessment of bone deformity
Evaluation of alkaline phosphatase levels
Diagnosis of juvenile paget disease confirmed in a neonatal case
Notable increase in alkaline phosphatase observed
Bone deformity was evident during the neonatal period

Implication

Case presentation of neonatal juvenile paget disease with bone deformity, suggesting need for timely diagnosis.

Abstract

OBJECTIVES: Gene. CASE PRESENTATION: gene. CONCLUSIONS: JPD should be considered in the differential diagnosis when there is bone deformity in the neonatal period, along with a marked, serial increase in alkaline phosphatase.

Discussion

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Cite This Study

Yarcı et al. (2026) studied this question.

synapsesocial.com/papers/6a03cc3d1c527af8f1ed0192 https://doi.org/10.1515/jpem-2026-0056

View at Publisher

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

Key Points

Implication

Abstract

Discussion

Cite This Study

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

Key Points

Implication

Abstract

Discussion

Cite This Study

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