Primary hyperparathyroidism in an adolescent girl masquerading as rickets: A diagnostic challenge
Author(s): Dr. Sushant Nadkarni, Dr. Suryakanth K and Dr. AA Hosangadi
Abstract: Introduction: Primary heperparathyroidism usually presents at 5th-6th decade of life with its classical triad of ‘stones, bones and groans. It is uncommon in children and adolescents which when presented at this age can mimic rickets and leads to misdiagnosis.Materials and Methods: Case was of 14 year old girl who presented with bilateral progressive genu valgus deformity with proportionate short stature and difficulty in walking. Preliminary x-rays of both knee joints showed tibio-femoral angles of 19° right and 17° left respectively and x-rays of bilateral wrists and ankle showed features consistent with rickets. Biochemical evaluation showed normal serum calcium levels initially which was elevated after vitamin D supplementation that was given for sub-optimal vitamin D levels. Serum parathormone levels were significantly elevated at presentation and even after vitamin D and calcium supplementation. Urine calcium and phosphate levels were within normal range. Four-dimensional [4D] CT of neck revealed hypodense, heterogenously enhancing well defined lesion posterosuperior to left thyroid gland suggesting parathyroid adenoma. Ultrasound guided aspiration was done which confirmed parathyroid adenoma histologically. Patient underwent left superior parathyroidectomy. Conclusion: Evaluation of rickets by clinical, radiological, biochemical and histological parameters led to the diagnosis of primary hyperparathyroidism which was due to parathyroid adenoma. Hence, skeletal deformity resembling rickets in adolescents entails detailed evaluation to unmask parathyroid adenoma for the appropriate diagnosis and treatment
Dr. Sushant Nadkarni, Dr. Suryakanth K, Dr. AA Hosangadi. Primary hyperparathyroidism in an adolescent girl masquerading as rickets: A diagnostic challenge. Int J Case Rep Orthop 2024;6(2):10-13. DOI: 10.22271/27078345.2024.v6.i2a.213