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

OBJECTIVES

Juvenile Paget disease (JPD) is a very rare autosomal recessive inherited bone metabolism disorder caused by osteoprotegerin (OPG) deficiency. Patients are mostly diagnosed in infancy or early childhood. Here, we report the first JPD diagnosed in the neonatal period, depending on severe clinical and radiological findings caused by a homozygous deletion in the TNFRSF11B Gene.

CASE PRESENTATION: A male newborn with a gestational age of 311/7 weeks, hospitalized for prematurity and respiratory distress, was found to have varus deformity in the proximal part of the lower extremities, and conventional radiography showed diffuse osteosclerosis, especially in the long bones. During follow-up, a rapid and progressive increase in serum alkaline phosphatase (ALP) levels was observed, and the bone-specific ALP level was found to be high. Chromosomal microarray analysis showed 251,4 kilobase homozygous deletion in the 8q24.12 region encoding the TNFRSF11B 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.