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mljgoums 2024, 18(5): 12-13 |
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Ansari Q, Jain A, Randad K, Singh V, Sarkate A. Infantile presentation of osteoporosis-pseudoglioma syndrome: A Case Report. mljgoums 2024; 18 (5) :12-13
URL: http://mlj.goums.ac.ir/article-1-1733-en.html
URL: http://mlj.goums.ac.ir/article-1-1733-en.html
1- Department of Pediatrics, TNMC and BYL Nair Hospital, Mumbai, India , ansari.qudsiya31@gmail.com
2- Department of Pediatrics, TNMC and BYL Nair Hospital, Mumbai, India
2- Department of Pediatrics, TNMC and BYL Nair Hospital, Mumbai, India
Abstract: (463 Views)
Osteoporosis-pseudoglioma syndrome (OPPG) is a rare disorder characterized by severe osteoporosis and vision impairment, due to mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. This autosomal recessive disorder is characterized by fractures, bone fragility, and pseudoglioma with blindness in infancy. Herein, we present a rare case of OPPG syndrome in an infant who, at 80 days of life (DOL), exhibited multiple fractures without any ophthalmic findings at the time of presentation. This is relatively earlier presentation of the symptoms as fractures are more commonly seen after two years of life.
Research Article: Case Report |
Subject:
Laboratory Sciences
Received: 2023/10/10 | Accepted: 2024/04/6 | Published: 2025/04/16 | ePublished: 2025/04/16
Received: 2023/10/10 | Accepted: 2024/04/6 | Published: 2025/04/16 | ePublished: 2025/04/16
References
1. Biha N, Ghaber SM, Hacen MM, Collet C. Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in LRP5. Case Rep Genet 2016; 2016: 9814928. [View at Publisher] [DOI] [PMID] [Google Scholar]
2. McDowell CL, Moore JD. Multiple fractures in a child: the osteoporosis pseudoglioma syndrome. A case report. J Bone Joint Surg Am. 1992; 74(8): 1247-9. [View at Publisher] [DOI] [PMID] [Google Scholar]
3. Tüysüz B, Bursalı A, Alp Z, Suyugül N, Laine CM, Mäkitie O. Osteoporosis-pseudoglioma syndrome: three novel mutations in the LRP5 gene and response to bisphosphonate treatment. Horm Res Paediatr. 2012; 77(2): 115-20. [View at Publisher] [DOI] [PMID] [Google Scholar]
4. Gong Y, Vikkula M, Boon L, Liu J, Beighton P, Ramesar R, et al. Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Am J Hum Genet. 1996; 59(1): 146-51. [View at Publisher] [PMID] [Google Scholar]
5. Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM, et al. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell. 2001; 107(4): 513-23. [View at Publisher] [DOI] [PMID] [Google Scholar]
6. Hartikka H, Mäkitie O, Männikkö M, Doria AS, Daneman A, Cole WG, et al. Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children. J Bone Miner Res. 2005; 20(5): 783-9. [View at Publisher] [DOI] [PMID] [Google Scholar]
7. Ai M, Heeger S, Bartels CF, Schelling DK, Osteoporosis-Pseudoglioma Collaborative Group. Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. Am J Hum Genet. 2005; 77(5): 741-53. [View at Publisher] [DOI] [PMID] [Google Scholar]
8. Streeten EA, McBride D, Puffenberger E, Hoffman ME, Pollin TI, Donnelly P, et al. Osteoporosis-pseudoglioma syndrome: Description of 9 new cases and beneficial response to bisphosphonates. 2008; 43(3): 584–90. [View at Publisher] [DOI] [PMID] [Google Scholar]
9. Homaei A, Chegini V, Saffari F. Clinical response to treatment with teriparatide in an adolescent with osteoporosis-pseudoglioma syndrome (OPPG): A case report. Int J Endocrinol Metab. 2022; 20(2): e121031. [View at Publisher] [DOI] [PMID] [Google Scholar]
10. Papadopoulos I, Bountouvi E, Attilakos A, Gole E, Dinopoulos A, Peppa M, et al. Osteoporosis-pseudoglioma syndrome: clinical, genetic, and treatment-response study of 10 new cases in Greece. Eur J Pediatr. 2019; 178(3): 323-9. [View at Publisher] [DOI] [PMID] [Google Scholar]
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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.