Idiopathic juvenile osteoporosis in a child: a four-year follow-up with review of literature
-
Aashima Dabas
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.
-
Research funding: No funding was received for the work stated in the manuscript.
-
Author contribution: RK – conceptualization and analysis of work, critically revising; AD – writing the manuscript draft and analysis; RM and RKu – design of the manuscript, collection, and interpretation of data. All authors have read and approved the contents.
-
Competing interest: No competing interests stated by any author.
-
Ethical approval: This research has complied with all relevant national regulations and institutional policies and has been approved by the authors' institutional review board or equivalent committee.
-
Informed consent: Informed consent was obtained from parents of the index case included in the study.
References
1. Galindo-Zavala, R, Bou-Torrent, R, Magallares-López, B, Mir-Perelló, C, Palmaou-Fontana, N, Sevilla-Perez, P, et al.. Expert panel consensus recommendations for diagnosis and treatment of secondary osteoporosis in children. Pediatr Rheumatol 2020;18:20. https://doi.org/10.1186/s12969-020-0411-9.Suche in Google Scholar PubMed PubMed Central
2. Nasomyont, N, Hornung, LN, Gordon, CM, Wasserman, H. Outcomes following intravenous bisphosphonate infusion in pediatric patients: a 7-year retrospective chart review. Bone 2019;121:60–7. https://doi.org/10.1016/j.bone.2019.01.003.Suche in Google Scholar PubMed
3. Genant, HK, Jergas, M, Palermo, L, Nevitt, M, Valentin, RS, Black, D, et al.. Comparison of semiquantitative visual and quantitative morphometric assessment of prevalent and incident vertebral fractures in osteoporosis the Study of Osteoporotic Fractures Research Group. J Bone Miner Res 1996;11:984–96. https://doi.org/10.1002/jbmr.5650110716.Suche in Google Scholar PubMed
4. Baroncelli, GI, Vierucci, F, Bertelloni, S, Erba, P, Zampollo, E, Giuca, MR. Pamidronate treatment stimulates the onset of recovery phase reducing fracture rate and skeletal deformities in patients with idiopathic juvenile osteoporosis: comparison with untreated patients. J Bone Miner Metabol 2013;31:533–43. https://doi.org/10.1007/s00774-013-0438-9.Suche in Google Scholar PubMed
5. Caetano da Silva, C, Ricquebourg, M, Orcel, P, Fabre, S, Funck-Brentano, T, Cohen-Solal, M,et al.. More severe phenotype of early-onset osteoporosis associated with recessive form of LRP5 and combination with DKK1 or WNT3A. Mol Genet Genom Med 2021;9:e1681. https://doi.org/10.1002/mgg3.1681.Suche in Google Scholar PubMed PubMed Central
6. Gene, LRP5. LDL receptor related protein 5 (plus strand). Reference SNP (rs) report; 2021. Available from: https://www.ncbi.nlm.nih.gov/snp/rs545382 [Accessed 25 Mar 2021].Suche in Google Scholar
7. Stürznickel, J, Rolvien, T, Delsmann, A, Butscheidt, S, Barvencik, F, Mundlos, S, et al.. Clinical phenotype and relevance of LRP5 and LRP6 variants in patients with early-onset osteoporosis (EOOP). J Bone Miner Res 2021;36:271–82. https://doi.org/10.1002/jbmr.4197.Suche in Google Scholar PubMed
8. Saraff, V, Sahota, J, Crabtree, N, Sakka, S, Shaw, NJ, Högler, W. Efficacy and treatment costs of zoledronate versus pamidronate in paediatric osteoporosis. Arch Dis Child 2018;103:92–4. https://doi.org/10.1136/archdischild-2017-313234.Suche in Google Scholar PubMed
9. Melchior, R, Zabel, B, Spranger, J, Schumaker, R. Effective parenteral clodronate treatment of a child with severe juvenile idiopathic osteoporosis. Eur J Pediatr 2005;164:22–7. https://doi.org/10.1007/s00431-004-1541-7.Suche in Google Scholar PubMed
10. Papakonstantinou, O, Sakalidou, M, Atsali, E, Bizimi, V, Mendrinou, M, Alexopoulou, E, et al.. Radiographic and MR imaging findings of the spine after bisphosphonate treatment, in a child with idiopathic juvenile osteoporosis. Case Rep Radiol 2015;2015:1–4.https://doi.org/10.1155/2015/727510.Suche in Google Scholar PubMed PubMed Central
© 2021 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Review Article
- An endocrine perspective on menstrual suppression for adolescents: achieving good suppression while optimizing bone health
- Original Articles
- Anthropometric, metabolic, and reproductive outcomes of patients with central precocious puberty treated with leuprorelin acetate 3-month depot (11.25 mg)
- Evaluation of the resilience of the girls with central precocious puberty treated with gonadotropin-releasing hormone analog
- The effect of GnRH stimulation on AMH regulation in central precocious puberty and isolated premature thelarche
- Association of the apoptotic marker APO1/Fas with children’s predisposing factors for metabolic syndrome and with mean platelet volume
- Serum adiponectin, body adiposity and metabolic parameters in obese Egyptian children with Down syndrome
- Urinary iodine and thyroglobulin are useful markers in infants suspected of congenital hypothyroidism based on newborn screening
- Comparison of plasmapheresis with medical apheresis in terms of efficacy and cost in the acute treatment of hypertriglyceridemia in children with lipoprotein lipase deficiency
- Clinical, biochemical and genotypical characteristics in biotinidase deficiency
- High uric acid levels in overweight and obese children and their relationship with cardiometabolic risk factors: what is missing in this puzzle?
- Optimizing pediatric histrelin implantation to improve success rates in clinic without sedation
- Determinants of ultra-processed food consumption in Brazilian children and adolescents with type 1 diabetes mellitus: a cross-sectional study
- The prevalence, immune profile, and clinical characteristics of children with celiac disease and type 1 diabetes mellitus in the state of Qatar
- Case Reports
- A rare and preventable aetiology of neurodevelopmental delay and epilepsy: familial glucocorticoid deficiency
- Giant plurihormonal pituitary adenoma in a child – case study
- The usefulness of copeptin for the diagnosis of nephrogenic diabetes insipidus in infancy: a case report
- A novel synonymous homozygous variant [c.2538G>A (p.Thr846Thr)] in TRPM6 in a patient with hypomagnesemia with secondary hypocalcemia
- Idiopathic juvenile osteoporosis in a child: a four-year follow-up with review of literature
Artikel in diesem Heft
- Frontmatter
- Review Article
- An endocrine perspective on menstrual suppression for adolescents: achieving good suppression while optimizing bone health
- Original Articles
- Anthropometric, metabolic, and reproductive outcomes of patients with central precocious puberty treated with leuprorelin acetate 3-month depot (11.25 mg)
- Evaluation of the resilience of the girls with central precocious puberty treated with gonadotropin-releasing hormone analog
- The effect of GnRH stimulation on AMH regulation in central precocious puberty and isolated premature thelarche
- Association of the apoptotic marker APO1/Fas with children’s predisposing factors for metabolic syndrome and with mean platelet volume
- Serum adiponectin, body adiposity and metabolic parameters in obese Egyptian children with Down syndrome
- Urinary iodine and thyroglobulin are useful markers in infants suspected of congenital hypothyroidism based on newborn screening
- Comparison of plasmapheresis with medical apheresis in terms of efficacy and cost in the acute treatment of hypertriglyceridemia in children with lipoprotein lipase deficiency
- Clinical, biochemical and genotypical characteristics in biotinidase deficiency
- High uric acid levels in overweight and obese children and their relationship with cardiometabolic risk factors: what is missing in this puzzle?
- Optimizing pediatric histrelin implantation to improve success rates in clinic without sedation
- Determinants of ultra-processed food consumption in Brazilian children and adolescents with type 1 diabetes mellitus: a cross-sectional study
- The prevalence, immune profile, and clinical characteristics of children with celiac disease and type 1 diabetes mellitus in the state of Qatar
- Case Reports
- A rare and preventable aetiology of neurodevelopmental delay and epilepsy: familial glucocorticoid deficiency
- Giant plurihormonal pituitary adenoma in a child – case study
- The usefulness of copeptin for the diagnosis of nephrogenic diabetes insipidus in infancy: a case report
- A novel synonymous homozygous variant [c.2538G>A (p.Thr846Thr)] in TRPM6 in a patient with hypomagnesemia with secondary hypocalcemia
- Idiopathic juvenile osteoporosis in a child: a four-year follow-up with review of literature
