Khan Kamran Amir, Qureshi Sameed Ullah
Department of Internal Medicine, Northwest General Hospital, Peshawar, Pakistan.
Department of Medicine, Northwest General Hospital, Peshawar, Pakistan.
J Coll Physicians Surg Pak. 2019 Sep;29(9):891-894. doi: 10.29271/jcpsp.2019.09.891.
Primary hyperparathyroidism (PHPT) is common among adults. However, its incidence is rare among children associated invariably with delay in diagnosis. In children, it is caused by hyperplasia, adenoma or related hereditary disorders. Herein, a 17-year male with PHPT presented with rare skeletal manifestations of genu valgum and bilateral epiphyseal displacement of femur. Investigations done three years ago reported hypocalcemia and vitamin-D deficiency. He was diagnosed with rickets and received plenty of calcium and vitamin D supplements. Due to lack of clinical improvement following the supplementation, re-evaluation revealed hypercalcemia, elevated vitamin D levels and elevated parathyroid hormone (PTH). A 99mTc-sestamibi scan reported increased uptake in the left inferior lobe of the thyroid gland. Surgical removal of the parathyroid gland was done and histopathology revealed parathyroid adenoma. Rickets in the setting of PHPT can masquerade as PHPT. In a patient with rickets, hypercalcemia at presentation or following the calcium and vitamin supplementations, should warn the physicians to rule out PHPT.
原发性甲状旁腺功能亢进症（PHPT）在成年人中很常见。然而，其在儿童中的发病率很低，且诊断往往延迟。在儿童中，它是由增生、腺瘤或相关遗传性疾病引起的。在此，一名17岁的PHPT男性患者出现了罕见的骨骼表现，即膝外翻和双侧股骨骨骺移位。三年前的检查报告显示低钙血症和维生素D缺乏。他被诊断为佝偻病，并接受了大量的钙和维生素D补充剂。由于补充后临床症状没有改善，重新评估发现高钙血症、维生素D水平升高和甲状旁腺激素（PTH）升高。99mTc-甲氧基异丁基异腈扫描报告显示甲状腺左下叶摄取增加。进行了甲状旁腺手术切除，组织病理学显示为甲状旁腺腺瘤。PHPT背景下的佝偻病可能会伪装成PHPT。对于患有佝偻病的患者，就诊时或补充钙和维生素后出现高钙血症，应提醒医生排除PHPT。
