Windswept Deformity

A Rare Skeletal Manifestation in an Adolescent with Primary Hyperparathyroidism

Authors

DOI:

https://doi.org/10.15605/jafes.039.02.10

Keywords:

primary hyperparathyroidism, skeletal manifestations, genu valgus, genu varus, wind-swept deformity

Abstract

Primary hyperparathyroidism (PHPT) in adolescents is rare and has severe manifestations as compared to adults. Skeletal involvement in primary hyperparathyroidism in the form of deformities like genu valgus, genu varus and cubitus varus is rare and limited to case reports and case series. There is only one case of genu varus with genu valgus on the contralateral extremity (windswept deformity) that has been reported to date in the literature.  We report the case of a 19-year-old male who presented with isolated progressive bending of his legs at the knee (windswept deformity) for three years. He was found to have hypercalcemia, hypophosphatemia,  high alkaline phosphatase, high intact parathyroid hormone (iPTH), normal 25-hydroxy vitamin D level and a normal kidney function test. A diagnosis of primary hyperparathyroidism was made. On imaging studies, a left inferior parathyroid adenoma was localized and was successfully removed surgically. Serum calcium and iPTH normalized post-operatively. The patient is being planned for corrective osteotomy after stabilization of alkaline phosphatase levels.

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Author Biographies

Pankaj Ferwani, Jawaharlal Nehru Medical College

Assistant Professor, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research,Sawangi, Wardha, Maharashtra, India

Bhushan Jajoo, Jawaharlal Nehru Medical College

Assistant Professor, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research,Sawangi, Wardha, Maharashtra, India

Sandeep Shrivastava, Jawaharlal Nehru Medical College

Professor, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research,Sawangi, Wardha, Maharashtra, India

References

Alagaratnam S, Kurzawinski TR. Aetiology, diagnosis and surgical treatment of primary hyperparathyroidism in children: New trends. Horm Res Paediatr. 2015. https://pubmed.ncbi.nlm.nih.gov/25966652. https://doi.org/10.1159/000381622.

Pashtan I, Grogan RH, Kaplan SP, et al. Primary hyperparathyroidism in adolescents: The same but different. Pediatr Surg Int. 2013;29(3):275-9. https://pubmed.ncbi.nlm.nih.gov/23184264. https://doi.org/10.1007/s00383-012-3222-3.

Silverberg SJ, Walker MD, Bilezikian JP. Asymptomatic primary hyperparathyroidism. J Clin Densitom. 2013;16(1):14-21. https://pubmed.ncbi.nlm.nih.gov/23374736. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3987990. https://doi.org/10.1016/j.jocd.2012.11.005.

Bhadada SK, Arya AK, Mukhopadhyay S, et al. Primary hyperparathyroidism: Insights from the Indian PHPT registry. J Bone Miner Metab. 2018;36(2):238-45. https://pubmed.ncbi.nlm.nih.gov/28364324. https://doi.org/10.1007/s00774-017-0833-8.

Jansen NJ, Dockx RBM, Witlox AM, Straetemans S, Staal HM. Windswept deformity a disease or a symptom? A systematic review on the aetiologies and hypotheses of simultaneous genu valgum and varum in children. Children (Basel). 2022;9(5):703. https://pubmed.ncbi.nlm.nih.gov/35626880. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9140164. https://doi.org/10.3390/children9050703.

Sharma L, Song J, Felson DT, Cahue S, Shamiyeh E, Dunlop DD. The role of knee alignment in disease progression and functional decline in knee osteoarthritis. JAMA. 2001;286(2):188-95. https://pubmed.ncbi.nlm.nih.gov/11448282. https://doi.org/10.1001/jama.286.2.188. Erratum in JAMA. 2001;15;286(7):792

Harman CR, van Heerden JA, Farley DR, Grant CS, Thompson GB, Curlee K. Sporadic primary hyperparathyroidism in young patients: A separate disease entity? Arch Surg. 1999;134(6):651-5. https://pubmed.ncbi.nlm.nih.gov/10367876. https://doi.org/10.1001/archsurg.134.6.651.

Boro H, Khatiwada S, Alam S, et al. The spectrum of manifestations of primary hyperparathyroidism in children and adolescents. Pediatr Endocrinol Diabetes Metab. 2022;28(3):178-87. https://pubmed.ncbi.nlm.nih.gov/35942826. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10214945. https://doi.org/10.5114/pedm.2022.118315.

Ramkumar S, Kandasamy D, Vijay MK, Tripathi M, Jyotsna VP. Genu valgum and primary hyperparathyroidism in children. Int J Case Rep Images. 2014;5(6):401-7. https://doi.org/10.5348/ijcri-201455-CS-10041.

de Silva NL, Jayalath MD, Sampath WKC, Perera R, Karunathilake C. Primary hyperparathyroidism in an adolescent presenting with genu valgus progressing to extensive bone disease; A case report. BMC Endocr Disord. 2023;31;23(1):71. https://pubmed.ncbi.nlm.nih.gov/37004024. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10064545. https://doi.org/10.1186/s12902-023-01328-z.

Dikova MI, Petkova B, Alexiev V. Skeletal deformity in children with primary hyperparathyroidism. Acta Chir Orthop Traumatol Cech. 2021;88(5):375-8. English. https://pubmed.ncbi.nlm.nih.gov/34738897.

Lee SP, Chai ST, Loh LT, Ali NM. Bilateral genu valgum in an adolescent with primary hyperparathyroidism: A case report and review of literature. J ASEAN Fed Endocr Soc. 2020;35(2):220-3. https://pubmed.ncbi.nlm.nih.gov/33442194. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784213. https://doi.org/10.15605/jafes.035.02.07.

Yanrismet Y, Tridjaja B. Genu valgum as a rare clinical manifestation in a child with primary hyperparathyroidism: a case report. Arch Dis Child. 2019;104(Suppl 3):A276. https://doi.org/10.1136/archdischild-2019-epa.646.

Rao KS, Agarwal P, Reddy J. Parathyroid adenoma presenting as genu valgum in a child: A rare case report. Int J Surg Case Rep. 2019;59:27–30. https://pubmed.ncbi.nlm.nih.gov/31102836. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6525286. https://doi.org/10.1016/j.ijscr.2019.03.063.

Paruk IM, Pirie FJ, Motala AA. Rickets mimicker: A report of two cases of primary hyperparathyroidism in adolescence. J Endocrinol Metab Diabetes South Africa. 2019;24(1):23–7. https://doi.org/10.1080/16089677.2018.1546365.

Khan KA, Qureshi SU. Primary hyperparathyroidism masquerading as rickets. J Coll Physicians Surg Pak. 2019;29(9):891-4. https://pubmed.ncbi.nlm.nih.gov/31455490. https://doi.org/10.29271/jcpsp.2019.09.891.

George GS, Raizada N, Jabbar PK, Chellamma J, Nair A. Slipped capital femoral epiphysis in primary hyperparathyroidism - Case report with literature review. Indian J Endocrinol Metab. 2019;23(4):491-4. https://pubmed.ncbi.nlm.nih.gov/31741912. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6844161. https://doi.org/10.4103/ijem.IJEM_306_19.

Kamath S, Shenoy J, Kini K, Shetty K, Pai K. Primary hyperparathyroidism presenting as bilateral genu valgum. Int J Health Allied Sci. 2018;7(2):114. https://doi.org/10.4103/ijhas.IJHAS_69_1.

Pradhan R, Agarwal A, Gupta SK. PHPT masquerading as rickets in children and presenting with rare skeletal manifestations: Report of three cases and review of literature. Indian J Endocrinol Metab. 2018;22(5):705-9. https://pubmed.ncbi.nlm.nih.gov/30294584. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6166568. https://doi.org/10.4103/ijem.IJEM_54_18.

Arambewela MH, Liyanarachchi KD, Somasundaram NP, Pallewatte AS, Punchihewa GL. Case report: Rare skeletal manifestations in a child with primary hyperparathyroidism. BMC Endocrine Disorders. 2017;17(1):45. https://pubmed.ncbi.nlm.nih.gov/28732535. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5521059. https://doi.org/10.1186/s12902-017-0197-z.

Zil-e-Ali A, Latif A, Rashid A, Malik A, Khan HA. Presentation of parathyroid adenoma with genu valgum and thoracic deformities. J Pak Med Assoc. 2016;66(1):101-3. https://pubmed.ncbi.nlm.nih.gov/26712192.

Sharma S, Kumar S. Bilateral genu valgum: an unusual presentation of juvenile primary hyperparathyroidism. Oxf Med Case Reports. 2016;2016(7):141-3. https://pubmed.ncbi.nlm.nih.gov/27471596. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4962889. https://doi.org/10.1093/omcr/omw023.

Ganie MA, Raizada N, Chawla H, Singh AK, Aggarwala S, Bal CS. Primary hyperparathyroidism may masquerade as rickets-osteomalacia in Vitamin D-replete children. J Pediatr Endocrinol Metab. 2016;29(10):1207–13. https://pubmed.ncbi.nlm.nih.gov/27710917. https://doi.org/10.1515/jpem-2016-0018.

Ratnasingam J, Tan ATB, Vethakkan SR, et al. Primary hyperparathyroidism: A rare cause of genu valgus in adolescence. J Clin Endocrinol Metab. 2013;98(3):869–70. https://pubmed.ncbi.nlm.nih.gov/23337722. https://doi.org/10.1210/jc.2012-3839.

Dutta D, Kumar M, Das RN, et al. Primary hyperparathyroidism masquerading as rickets: Diagnostic challenge and treatment outcomes. J Clin Res Pediatr Endocrinol. 2013;5(4):266-9. https://pubmed.ncbi.nlm.nih.gov/24379038. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3890227. https://doi.org/10.4274/Jcrpe.1060.

Walczyk A, Szalecki M, Kowalska A. Primary hyperparathyroidism: A rare endocrinopathy in children. Two case reports. Endokrynol Pol. 2011;62(4):346–50. https://pubmed.ncbi.nlm.nih.gov/21879476.

Menon PSN, Madhavi N, Mukhopadhyaya S, Padhy AK, Bal CS, Sharma LK. Primary hyperparathyroidism in a 14-year-old girl presenting with bone deformities. J Paediatr Child Health. 1994;30(5):441–3. https://pubmed.ncbi.nlm.nih.gov/7833084. https://doi.org/10.1111/j.1440-1754.1994.tb00698.x.

Kauffmann C, Leroy B, Sinnassamy P, Carlioz H, Gruner M, Bensman A. A rare cause of bone pain in children: Primary hyperparathyroidism caused by adenoma. Arch Fr Pediatr. 1993;50(9):771–4. https://pubmed.ncbi.nlm.nih.gov/8060206.

Rapaport D, Ziv Y, Rubin M, Huminer D, Dintsman M. Primary hyperparathyroidism in children. J Pediatr Surg. 1986;21(5):395–7. https://pubmed.ncbi.nlm.nih.gov/3712190. https://doi.org/10.1016/s0022-3468(86)80505-x.

Lloyd HM, Aitken RE, Ferrier TM. Primary hyperparathyroidism resembling rickets of late onset. Br Med J. 1965;2(5466):853–6. https://pubmed.ncbi.nlm.nih.gov/5827800. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1846345. https://doi.org/10.1136/bmj.2.5466.853.

Balch HE, Spiegel EH, Upton AL, Kinsell LW. Hyperparathyroidism: Report of 2 cases with some relatively unusual manifestations. J Clin Endocrinol Metab. 1953;13(6):733–8. https://pubmed.ncbi.nlm.nih.gov/13061594. https://doi.org/10.1210/jcem-13-6-733.

McClure RD, Lam CR. End-results in the treatment of hyperparathyroidism. Ann Surg. 1945;121(4):454–69. https://pubmed.ncbi.nlm.nih.gov/17858584. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1618130. https://doi.org/10.1097/00000658-194504000-00006.

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Published

2024-07-31

How to Cite

Ferwani, P., Bhushan Jajoo, & Sandeep Shrivastava. (2024). Windswept Deformity: A Rare Skeletal Manifestation in an Adolescent with Primary Hyperparathyroidism. Journal of the ASEAN Federation of Endocrine Societies, 39(2), 86–91. https://doi.org/10.15605/jafes.039.02.10

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Section

Case Reports