Title : Ollier’s disease with grade II astrocytoma case report and brief review of astrocytoma
Abstract:
Ollier’s disease is a dysplasia of cartilage characterized by multiple enchondromas. Previous literature did not observe the concurrence of Ollier’s disease and gliomas, however, the presence of these two comorbidities is now becoming evident. In patients with Ollier’s disease, isocitrate dehydrogenase 1 (IDH1) and isocitrate dehydrogenase 2 (IDH2) mutations were shown to be a predisposing factor to the development of astrocytomas in conjunction with subsequent mutations in ATP-dependent helicase ATRX (ATRX) and tumor protein p53 (TP53). We present a case report of a 21-year-old male with an adolescent diagnosis of Ollier’s disease who developed a grade II astrocytoma in early adulthood. The patient presented to the emergency room with seizures, was given anti-seizure medication, and later underwent chemotherapy and resection of the astrocytomas. A literature review showed 12 additional patients diagnosed with Ollier’s disease who were subsequently diagnosed with a grade II astrocytoma later in life. We conclude this case report with a discussion of the genetics of Ollier’s disease and emphasize the importance of performing routine cranial magnetic resonance imaging (MRI) in these patients.