Teaching NeuroImage: Histopathologically Confirmed Intracranial Enchondroma/Low-Grade Chondrosarcoma and IDH1-Mutated Diffuse Glioma in Ollier Disease

A 3-year-old girl presented with leg deformities diagnosed as enchondromatosis (Ollier disease), which is a rare, sporadic, skeletal disorder characterized by hamartomatous growth of cartilage cells within metaphyses of long bones. In 2008, fluid-attenuated inversion recovery signal hyperintensity in her left frontal lobe (Figure, A) and skull-base enchondroma (Figure, B) were discovered. Her enchondromatosis required amputation of digits that were heavy and unusable (Figure, C and D). In 2017, surveillance imaging revealed enlargement of the frontal tumor, leading to craniotomy for a WHO grade 2 astrocytoma. Ollier disease is associated with IDH mutations1 and patients must be monitored for sarcomatous transformation of enchondromas and extraosseous malignancies including gliomas.2

Read article at journal's website

Related Articles

Responses

Your email address will not be published. Required fields are marked *