Brain and skull base MRI findings in patients with Ollier-Maffucci disease: A series of 12 patient-cases

- Ollier-Maffucci patients have IDH-mutated chondromas, as consequence of a somatic mosaicism.
- This mosaicism also predisposes these patients to gliomas and skull base chondrosarcomas.
- We confirmed that screening MRI evidenced a high rate of brain or skull base abnormalities in Ollier-Maffucci patients.
- This result warrant to monitor these patients with cerebral MRI at regular time interval.

ObjectivesTo estimate the prevalence rate of silent cranial and intracranial lesions in a series of Ollier-Maffucci patients.Patients and methodsCerebral MRI was routinely performed in Ollier-Maffucci patients followed-up in our tertiary centers. Patients with previous history of skull base or intracranial tumors were excluded from the study. Clinical and radiological datas were retrospectively collected. The occurrence rate and nature of abnormal cerebral MRIs were determined.ResultsTwelve patients were included. A glioma-looking lesion was found in one patient (8%), while skull base lesions were evidenced in 3 others (25%). A regular MRI follow-up was recommended for each patient, with a time interval varying between 1 year and 3 years depending on the likelihood of tumoral evolutivity, as infered from the MRI findings.ConclusionAll in all, the high rate of intracranial and skull base lesions with a malignant potential warrants to include cerebral MRI in the routine follow-up of Ollier-Maffucci patients.