A Case of Ollier & #39;s Disease with P53 Mutation Positive and IDH1 (R132H) Negative Multicentric Gliomas

Y Nishtha, B Maya, Safal S Shetty, VH Ganaraj, P Nupur, TC Yasha, M NetravathiNeurology India 2020 68(3):657-659Ollier disease is a rare nonhereditary disorder characterized by multiple enchondromas (enchondromatosis). To report a rare case of Ollier disease with gliomas and its mutation analysis. We hereby report a young lady who presented with seizures. She had a past history of multiple bony swellings in the right foot (operated) and swelling over the anterior chest wall for the past 15 years. MRI brain revealed multiple expansile T2/FLAIR hyperintense lesions in right superior and middle frontal gyri, left basifrontal lobe, and left precuneus in the cortical–subcortical location suggestive of glioma. She underwent biopsy which revealed left basifrontal anaplastic astrocytoma, not otherwise specified, WHO grade III, IDH1 (R132H) negative, P53 mutation positive, and ATRX loss of expression. We hereby report a rare case of Ollier disease with multicentric intracranial glioma—IDH1 (R132H) negative, P53 mutation positive, and ATRX loss of expression.

Source: Neurology India - July 5, 2020 Category: Neurology Authors: Y Nishtha B Maya Safal S Shetty VH Ganaraj P Nupur TC Yasha M Netravathi Source Type: research