A 19-year-old Caucasian male presented for assessment of subacute right knee pain and bilateral hip discomfort with exertion during military recruit training. He reported a history of foot and wrist fractures during childhood and chronic backache. The patient’s family history was notable for two brothers with a constellation of fractures including clavicular, foot, and wrist fractures. Radiographs of the right knee and pelvis demonstrated femoral meta-diaphyseal widening and cortical thickening, respectively. Radiographs of the cervical, thoracic, and lumbar spine showed diffuse vertebral body endplate sclerosis “rugger jersey spine appearance.” Initial laboratory studies including serum calcium, alkaline phosphatase, albumin, 25-hydroxy vitamin D, parathyroid hormone and complete blood count were all normal. DXA scan showed Z-scores of + 0.5 at femoral neck, + 1.4 total hip, and 0.0 at lumbar spine.

References:
Palagano E, Menale C, Sobacchi C, Villa A. Genetics of Osteopetrosis. Curr Osteoporos Rep. 2018;16:13-25.
Wu CC, Econs MJ, DiMeglio LA, et al. Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group. J Clin Endocrinol Metab. 2017;102(9):3111-3123.
Moore JB, Hoang TD, Shwayhat AF. Osteopetrosis. Mil Med. 2017;182(3): e1886-e1888.