title: Primary hyperparathyroidism masquerading as rickets: diagnostic challenge and treatment outcomes.
abstract: Primary hyperparathyroidism (PHPT) is extremely uncommon among children and is more likely to be associated with genetic syndromes, multiglandular involvement, and more severe symptoms. Rickets can very rarely be the presenting feature of PHPT in children. Rickets was diagnosed in a 12-year-old girl presenting with short stature, genu valgum, eversion deformity at the ankle joints, and flat feet. Radiograms showed generalized osteopenia, widening of the distal ends of the long bones along with splaying, cupping and fraying. Biochemical evaluation revealed low serum calcium (7.8 mg/dL), low phosphorus (1.4 mg/dL), vitamin-D deficiency [25-hydroxy-vitamin-D (25(OH)D): 8.7 ng/mL], and elevated intact parathyroid hormone (PTH, 811 pg/mL). Re-evaluation due to lack of clinical improvement following vitamin-D and calcium supplementation revealed hypercalcemia 11.9 mg/dL, normal 25(OH)D 41 ng/mL, persistence of elevated PTH 632 pg/mL. A 99mTc-sestamibi scan showed increased uptake at the lower pole of the right lobe of the thyroid. A right inferior parathyroidectomy was performed. Histopathology revealed chief cell type parathyroid adenoma. Last evaluated 4 months after surgery, the bone pains and proximal weakness had resolved, with significant improvement in the patient's quality of life. Rickets in the setting of PHPT often masks the classical phenotype of PHPT. In a child with rickets, lack of improvement following vitamin-D supplementation, hypercalcemia at presentation or following vitamin-D supplementation are warning signs which necessitate further evaluation to rule out PHPT.
authors.affiliation: IPGMER and SSKM Hospital, Department of Endocrinology and Metabolism, Calcutta, India. E-mail: deepdutta2000@yahoo.com.
authors.forename: Deep
authors.initials: D
authors.lastname: Dutta
authors.forename: Manoj
authors.initials: M
authors.lastname: Kumar
authors.forename: Ram Narayan
authors.initials: RN
authors.lastname: Das
authors.forename: Saumik
authors.initials: S
authors.lastname: Datta
authors.forename: Dibakar
authors.initials: D
authors.lastname: Biswas
authors.forename: Sujoy
authors.initials: S
authors.lastname: Ghosh
authors.forename: Satinath
authors.initials: S
authors.lastname: Mukhopadhyay
authors.forename: Subhankar
authors.initials: S
authors.lastname: Chowdhury
mesh_terms: D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D049950:Hyperparathyroidism, Primary / Q000175:diagnosis* / Q000628:therapy; D016105:Parathyroidectomy; D011788:Quality of Life; D012279:Rickets / Q000175:diagnosis* / Q000628:therapy; D016896:Treatment Outcome