Diagnosis and treatment of Primary Hyperparathyroidism in a 14 years old girl: a rare disease misdiagnosed.

A 14 year old girl presented to her local hospital in North Africa with hip and knee pain. She has been well until 2 years previously but then she became weak and was unable to walk. Genu valgum and bilateral slipped femoral epiphyses were diagnosed and underwent a series of bilateral orthopaedic operations.

Subsequently she was found to have a high blood calcium (2.9 mmol/l) and PTH (>263, hypercalciuria (urine Ca/Creatinine ratio 3.73) and low Vitamin D (13 nmol/l). 

She was transferred to London, UK where she was diagnosed with Primary Hyperparathyroidism, the skeletal survey showed vertebral compression fractures, low bone density and other multiple skeletal abnormalities. Renal ultrasound showed no kidney stones and Sanger sequencing of MEN1 gene did not identify mutation.    

Sestamibi CT SPECT scan showed single, enlarged right lower parathyroid adenoma. At operation abnormal parathyroid gland was removed.

 Postoperative recovery was excellent with no complications apart from severe hypocalcaemia which required large doses of alfa calcidol and calcium. Histology showed….

  Five months after parathyroidectomy she was well and able to walk. Her calcium and PTH were normal and there was an improvement of bone mineralisation on Dexa scan and healing of vertebral compression fractures on X rays.