IMPE Abstracts

Introduction: Childhood hyperparathyroidism is very uncommon having the incidence of 1 – 2.5 per 100,000. It is mostly manifested after 10 years of age and has been transmitted as autosomal dominant fashion clinical presentation is very unusual such as headache, abdominal pain, nausea, vomiting, constipation, polyuria, and polydipsia. Brown tumors are focal bone lesions encountered in patient with uncontrolled hyperparathyroidism. Overall diagnosis of this rare disease poses great challenges in identification and management of the disease.

Case Report: 14 years old male child presented in our endocrinology department at NICH hospital with numbness of upper and lower limbs. He was short heighted with widening of distal phalanges, gross bowing, and deformity of both upper limbs. He has history of delayed dentition and dental carries. His blood investigations show serum calcium 16 mg/dl (8.6 – 10.2 mg/dl), serum magnesium 1.15mg/dl (1.8 – 2.6 mg/dl), iPTH 127 pg/ml (16 – 87 pg/ml), serum vitamin D2 99 ng/ml (30 – 150 ng/ml) serum phosphorus 3 mg/dl (4 – 7 mg/dl), and alkaline phosphatase 944 iu/L (54 – 367 iu/L). Thyroid profile was unremarkable. Ultrasound KUB reveals medullary nephrocalcinosis. Spot urinary calcium / creatinine ratio is 0.2. Skeletal surveys shows sub periosteal bone resorbtion of phalanges of both hands, distal clavicular resorption & multiple punched out lesions were identified on X-ray skull (salt and pepper appearance). X-ray abdomen was suggestive of nephrocalcinosis. Overall there was markedly reduced bone density with multiple brown tumors (lytic lesions), pathological fractures, & acro-osteolysis raising the concern of metabolic bone disease likely Primary Hyperparathyroidism. Ultrasound neck shows enlarged bilateral parathyroid gland. Parathyroid scintigarphy was negative for any functioning parathyroid adenoma in neck or superior mediastinum. Genetic panel was not sent because of unaffordability issue. Patient was managed with bisphosphonates and surgical resection of parathyroid glands were planned.

Conclusion: Because of Rarity this disease is very difficult to diagnosis but if recognized early, the prognosis is good when extensive osseous lesions are present, deformities may be permanent. A search for other affected family members is indicated.