MON-747 - Beyond Focal Disease: Early Onset Diffuse Skeletal Paget Disease

Paget disease of bone is the second most prevalent disorder of bone remodeling after osteoporosis. It globally affects 1.5% to 8.3% of individuals, with the highest being European men over the age of 55. Paget disease is generally asymptomatic and found incidentally by X-Ray or routine laboratory evaluation noting an elevated alkaline phosphatase. When the disease has been active for an extended period, clinical manifestations include skeletal pain, deformities, & fractures. Here we present a case of Paget disease in a young male.
A 36-year-old White male presented to the emergency room with neck stiffness, intermittent headaches, and progressive difficulty walking for two months. His physical examination was unremarkable except for the difficulty walking. Initially had an X-ray of the cervical spine revealing a cotton-wool appearance of the skull base. Laboratory workup at the time was significant for Calcium 9.4 mg/dL (8.7-10.2 mg/dL), Albumin 4.2 g/dL (4.1-5.1 g/dL), Alkaline Phosphatase 4047 IU/L (47-123 IU/L), 25-Hydroxy Vitamin D < 4.0 ng/mL (30-100 ng/mL), Phosphorus 4.1 mg/dL (2.8-4.1 mg/dL), Parathyroid Hormone 46 pg/mL (15-65 pg/mL). Later, a CT scan showed diffusely abnormal bones characterized by hyperostosis and well-defined lytic and sclerotic lesions throughout the calvarium, the visualized skull base, and visualized facial bones. MRI showed skull hyperostosis with speckled appearance in keeping with circumferential mass effect on the brain parenchyma resulting in diffuse ventricular narrowing and effacement of the basal cisterns. Bone scintigraphy showed increased radiotracer uptake throughout the skull, face, bilateral clavicles, sternum, right hemipelvis, bilateral humeri, bilateral tibia, and feet. He received Vitamin D supplementation to achieve normal levels before getting zoledronic acid infusion 5 mg.
This case illustrates an atypical presentation of Paget disease of bone, characterized by early onset and diffuse skeletal involvement. While Paget disease is classically focal and diagnosed later in life, this case emphasizes the need to consider it in younger patients presenting with markedly elevated alkaline phosphatase and extensive mixed lytic–sclerotic bone changes. Early recognition, correction of contributing metabolic abnormalities such as severe vitamin D deficiency, and timely initiation of potent antiresorptive therapy are essential to reducing disease activity and preventing irreversible skeletal deformity and neurologic compromise.

*Unless otherwise noted, all abstracts presented at ENDO must not be released to the press or the public until the date and time of presentation. For oral presentations, the abstracts are embargoed until the session begins. The Endocrine Society reserves the right to lift the embargo on specific abstracts that are selected for promotion prior to or during ENDO.*