Mcluckey Morgan,  Forbes-amrhein Monica

Final Pr. ID: Poster #: EDU-063

Osteopetrosis is a rare disorder characterized by osteosclerosis throughout the axial and appendicular skeleton. Abnormally functioning osteoclasts lead to deficient osseous remodeling and overly dense, brittle bones with crowding of the bone marrow space. Multiple different genetic abnormalities underlie this condition, resulting in varying penetrance and heterogeneous disease patterns. Imaging is critical to diagnosis and characterization. The aim of this exhibit is to familiarize the pediatric radiologist with this rare disease through a discussion of the clinical presentation, characteristic imaging findings (with special attention paid to the differences among infantile, adolescent, and adult forms), complications, and available forms of management. We will emphasize the central role of imaging in diagnosis, as well as detection of complications and monitoring changes after treatment. Read More

Authors:  Mcluckey Morgan , Forbes-amrhein Monica

Keywords:  Osteopetrosis

Kumar Ishan,  Aggarwal Priyanka,  Verma Ashish

Final Pr. ID: Poster #: CR-041

Diffuse osteosclerosis in pediatric patients can present diagnostic challenges due to overlapping features with conditions such as osteopetrosis, dysosteosclerosis, and pyknodysostosis. A 1-year-old male infant, born to non-consanguineous parents presented with global developmental delays, motor and speech impairments, and distinct craniofacial abnormalities. Notable features included macrocephaly, midfacial hypoplasia, and the presence of wormian bones. Clinical examination noted prominent veins over the skull, marked sutural markings, and wide wrists. Laboratory tests indicated anisocytic hypochromic anemia. An MRI of the brain demonstrated asymmetric ventriculomegaly, with deposits identified in the right orbits. The patient's family history included a sibling who had a history of Type 1 diabetes mellitus and juvenile idiopathic arthritis, who passed away at the age of three.
Radiographic evaluation revealed diffuse osteosclerosis of the vertebrae and ribs, a “bone within bone” appearance in both ilia, and bilateral femora showed Erlenmeyer flask deformity. Additional findings included diphyseal sclerosis with focal segmental cortical thickening in both tibiae and patchy sclerosis observed in the metaphysis. Similar findings were seen in metacarpals. Read More

Authors:  Kumar Ishan , Aggarwal Priyanka , Verma Ashish

Keywords:  Osteopetrosis, X-Ray, Histiocytosis