Ollier's disease (enchondromatosis) is a dysplasia of cartilage characterized by multiple enchondromas. Current evidence supports a measurable prevalence of concurrent gliomas in patients with Ollier's disease. 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 adenosine triphosphate (ATP)-dependent helicase ATRX (ATRX) and tumor protein p53 (TP53). We present the case report of a 21-year-old man 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. After reviewing the genetics behind Ollier's disease, the importance of performing routine cranial magnetic resonance imaging (MRI) in these patients becomes apparent.
Vail et al. (Tue,) studied this question.