A Case Series of Two Bone Disorders: Rare Presentations
Year: 2025
Type: article
Study design: Case Report
Abstract: Osteopetrosis, also known as “marble bone disease,” is a group of rare genetic disorders caused by osteoclast failure, which ranges widely in severity. Osteopetrosis presents with a varied spectrum ranging from craniofacial abnormalities such as frontal bossing and nerve compression, visual defects to organomegaly and anemia attributed to extramedullary hematopoiesis due to bone marrow failure, which can be life-threatening. Similarly, hypercalcemia can trigger acute pancreatitis, with primary hyperparathyroidism being the most common cause. While rare, hypercalcemia from multiple myeloma can also lead to this condition. Herein, we present two interesting cases with unusual presenting complaints pertaining to these respective disorders, where timely diagnosis and intervention were lifesaving.
Authors: Ruhi Khan, Rafyat Ara, Saif Quaiser, Bareerah Obaid, Ahmad Alam
Language: English
Topic: Bone Metabolism and Diseases
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W7116077480