1. Idiopathic juvenile osteoporosis in a child: a four-year follow-up with review of literature
- Author
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Ravindra Kumar, Rakhi Malhotra, Rajesh Khadgawat, and Aashima Dabas
- Subjects
Male ,0301 basic medicine ,Pediatrics ,medicine.medical_specialty ,Endocrinology, Diabetes and Metabolism ,Osteoporosis ,030209 endocrinology & metabolism ,Asymptomatic ,03 medical and health sciences ,0302 clinical medicine ,Endocrinology ,Back pain ,Humans ,Medicine ,Child ,Index case ,business.industry ,LRP5 ,medicine.disease ,Radiography ,Low Density Lipoprotein Receptor-Related Protein-5 ,030104 developmental biology ,Mutation ,Pediatrics, Perinatology and Child Health ,Primary osteoporosis ,IDIOPATHIC JUVENILE OSTEOPOROSIS ,Presentation (obstetrics) ,medicine.symptom ,business ,Osteoporotic Fractures - Abstract
Objectives Childhood osteoporosis is an uncommon condition that usually develops secondary to underlying disease states. Idiopathic juvenile osteoporosis or early onset osteoporosis is a rare cause of primary osteoporosis in childhood associated with mutations in “bone fragility” genes. Case presentation The index case presented with upper back pain and was detected to have multiple vertebral fractures. Further workup for the cause revealed a homozygous benign mutation in low-density lipoprotein receptor-related protein 5, which was also detected in the mother who remained asymptomatic till presentation. The child was successfully treated with intravenous zoledronate. Conclusions The case report describes the management approach and four-year follow-up of the child.
- Published
- 2021
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