Rare Presentation of Severe Pediatric Rickets

Primary hyperparathyroidism (PHPT) is an uncommon endocrine disorder in children. In contrast to adults, children with PHPT typically present with signs or symptoms of hypercalcemia, including skeletal complications. Genetic testing for familial and/or syndromic forms of hyperparathyroidism is important since PHPT may occur as a hereditary familial disease or sporadically due to a de novo germline mutation. Childhood PHPT can result from either a single adenoma, as seen in the majority of cases, or, to a lesser degree, parathyroid hyperplasia. Parathyroidectomy is the treatment of choice and surgery is often curative. There is an increased risk of postoperative hungry bone syndrome due to the fact that PHPT is generally more severe in the pediatric age group. In this chapter, we describe a rare case of severe rickets as the main presenting symptom of PHPT and review in detail its presentation, diagnosis, and management. This case highlights the need to pursue a comprehensive laboratory workup for potential etiologies of rickets.