Rickets mimicker: a report of two cases of primary hyperparathyroidism in adolescence

Abstract

The presentation of primary hyperparathyroidism (PHPT) in most Western countries has evolved from the classic description of 'stones, bones, and groans' to becoming increasingly asymptomatic as a result of more frequent serum calcium screening. However, many developing countries are still reporting predominantly symptomatic PHPT with the classic complications of skeletal disease and nephrolithiasis still being quite common. Furthermore, the exact prevalence of PHPT in children is not known but it is thought to be uncommon and the clinical presentation and outcomes in this subgroup of patients are not well described in the literature. Two cases of PHPT occurring in adolescent boys are reported. Both cases initially presented with chronic bone pain involving the lower limbs and had a long delay before the diagnosis of PHPT was confirmed. They developed progressive deformities of the lower limbs, which resembled rickets clinically. Radiological features were also suggestive of rickets. However, biochemistry confirmed parathyroid hormone mediated hypercalcaemia in both cases and after parathyroid surgery a parathyroid adenoma was confirmed histologically as the aetiology of hypercalcaemia. Therefore, PHPT occurring in adolescence may have a clinical presentation almost identical to that of rickets. All patients presenting with skeletal deformities including a rickets phenotype must have serum calcium and phosphate levels measured as part of the diagnostic workup.

The spectrum of manifestations of primary hyperparathyroidism in children and adolescents

“… In pediatric and juvenile PHPT, there is more extensive and severe musculoskeletal involvement. Primary hyperparathyroidism may masquerade as rickets in children and adolescents which has earlier been reported in a few case reports [ 4 – 9 ]. In our cohort, 50% patients presented with rachitic manifestations with genu valgum being the most predominant phenomenon.…”

“…The literature on pediatric PHPT is so far limited to a few case reports and case series [4][5][6][7][8][9].…”

Primary Hyperparathyroidism in Young and Adolescents: Alike or Unlike Adult Hyperparathyroidism? - A Series from South India

“…[ 17 ] Another report of 2 adolescent boys from South Africa also noted bone pain involving lower limbs resembling rickets. [ 18 ] A French multicenter experience suggested the use of long-term cinacalcet in hypercalcemia identified in these 18 young patients with an average age of 10 years. [ 19 ]…”

Primary hyperparathyroidism in an adolescent presenting with genu valgus progressing to extensive bone disease; a case report

“…Fractures have been observed only in two patients. One was a 17-year-old boy who initially presented at 14 years of age with lower limb pain and bilateral genu valgus [11]. At the diagnosis, his corrected calcium was 3.02 mmol/L.…”