Neurofibromatosis type 1 and primary hyperparathyroidism with spinal deformity and osteoporosis

The association of Neurofibromatosis type 1 (NF1) and primary hyperparathyroidism (PHPT) is a well described but very rare entity. This association supports the hypothesis of a variant of multi-endocrine neoplasia syndrome. We report a 52-year-old woman with NF1, PHPT and spinal deformity. She had cutaneous lesions of neurofibromatosis. X-ray imaging has shown severe kyphoscoliosis and bone mineral density measurement has revealed severe osteoporosis. Significant increases in blood calcium and parathormon level were measured. Parathyroid adenoma was determined by ultrasound and MIBI scan. Hyperparathyroidism and hypercalcaemia resolved after surgical removal of adenoma. The general condition of the patient was improved significantly after two months of medical and physical therapy. All NF1 patients who have severe skeletal deformities, osteoporosis, and motor activity loss should be investigated for the concurrence of PHPT.