Efficacy of denosumab therapy for a 12-year-old female patient with Williams syndrome with osteoporosis and history of fractures: a case report
Abstract Background A decrease in bone mineral density is common in patients with Williams syndrome. However, appropriate management for osteoporosis in Williams syndrome patients has not been established. We report the case of a 12-year-old female patient with Williams syndrome, who underwent denos...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2021-12-01
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| Series: | Journal of Medical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13256-021-03175-9 |
| _version_ | 1818363115122720768 |
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| author | Masashi Uehara Yukio Nakamura Takako Suzuki Noriko Sakai Jun Takahashi |
| author_facet | Masashi Uehara Yukio Nakamura Takako Suzuki Noriko Sakai Jun Takahashi |
| author_sort | Masashi Uehara |
| collection | DOAJ |
| description | Abstract Background A decrease in bone mineral density is common in patients with Williams syndrome. However, appropriate management for osteoporosis in Williams syndrome patients has not been established. We report the case of a 12-year-old female patient with Williams syndrome, who underwent denosumab treatment for osteoporosis. Case presentation A 12-year-old Japanese female patient with Williams syndrome was shown to have very low bone mineral density. Bone mineral density was evaluated before treatment and at 5, 9, 17, 23, and 29 months of treatment by dual-energy X-ray absorptiometry. After denosumab therapy for 29 months, lumbar and total hip bone mineral density values had increased by 51.6% and 37.6%, respectively. No new fractures occurred during the observation period. Conclusions To the best of our knowledge, this is the first experience with denosumab treatment in Williams syndrome patients with osteoporosis. Based on our findings, denosumab may be an effective treatment option for Williams syndrome patients with osteoporosis. |
| first_indexed | 2024-12-13T21:43:20Z |
| format | Article |
| id | doaj.art-8845be0b69884b6d9efd36e6a389e70e |
| institution | Directory Open Access Journal |
| issn | 1752-1947 |
| language | English |
| last_indexed | 2024-12-13T21:43:20Z |
| publishDate | 2021-12-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj.art-8845be0b69884b6d9efd36e6a389e70e2022-12-21T23:30:29ZengBMCJournal of Medical Case Reports1752-19472021-12-011511610.1186/s13256-021-03175-9Efficacy of denosumab therapy for a 12-year-old female patient with Williams syndrome with osteoporosis and history of fractures: a case reportMasashi Uehara0Yukio Nakamura1Takako Suzuki2Noriko Sakai3Jun Takahashi4Department of Orthopaedic Surgery, Shinshu University School of MedicineDepartment of Orthopaedic Surgery, Shinshu University School of MedicineDepartment of Human Nutrition, Faculty of Human Nutrition, Tokyo Kasei Gakuin UniversityDepartment of Orthopaedic Surgery, Nagano Children’s HospitalDepartment of Orthopaedic Surgery, Shinshu University School of MedicineAbstract Background A decrease in bone mineral density is common in patients with Williams syndrome. However, appropriate management for osteoporosis in Williams syndrome patients has not been established. We report the case of a 12-year-old female patient with Williams syndrome, who underwent denosumab treatment for osteoporosis. Case presentation A 12-year-old Japanese female patient with Williams syndrome was shown to have very low bone mineral density. Bone mineral density was evaluated before treatment and at 5, 9, 17, 23, and 29 months of treatment by dual-energy X-ray absorptiometry. After denosumab therapy for 29 months, lumbar and total hip bone mineral density values had increased by 51.6% and 37.6%, respectively. No new fractures occurred during the observation period. Conclusions To the best of our knowledge, this is the first experience with denosumab treatment in Williams syndrome patients with osteoporosis. Based on our findings, denosumab may be an effective treatment option for Williams syndrome patients with osteoporosis.https://doi.org/10.1186/s13256-021-03175-9Bone mineral densityDenosumabFractureWilliams syndromeOsteoporosis |
| spellingShingle | Masashi Uehara Yukio Nakamura Takako Suzuki Noriko Sakai Jun Takahashi Efficacy of denosumab therapy for a 12-year-old female patient with Williams syndrome with osteoporosis and history of fractures: a case report Journal of Medical Case Reports Bone mineral density Denosumab Fracture Williams syndrome Osteoporosis |
| title | Efficacy of denosumab therapy for a 12-year-old female patient with Williams syndrome with osteoporosis and history of fractures: a case report |
| title_full | Efficacy of denosumab therapy for a 12-year-old female patient with Williams syndrome with osteoporosis and history of fractures: a case report |
| title_fullStr | Efficacy of denosumab therapy for a 12-year-old female patient with Williams syndrome with osteoporosis and history of fractures: a case report |
| title_full_unstemmed | Efficacy of denosumab therapy for a 12-year-old female patient with Williams syndrome with osteoporosis and history of fractures: a case report |
| title_short | Efficacy of denosumab therapy for a 12-year-old female patient with Williams syndrome with osteoporosis and history of fractures: a case report |
| title_sort | efficacy of denosumab therapy for a 12 year old female patient with williams syndrome with osteoporosis and history of fractures a case report |
| topic | Bone mineral density Denosumab Fracture Williams syndrome Osteoporosis |
| url | https://doi.org/10.1186/s13256-021-03175-9 |
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