Background: Maffucci syndrome is a rare genetic disorder associated with the development of multiple enchondromas and soft tissue cavernous hemangiomas, as well as an increased risk of malignant tumors. Case Description: Here we report a case of Maffucci syndrome in a patient who presented with a giant left frontal lobe tumor. Molecular genetic analysis of the tumor revealed an isocitrate dehydrogenase (IDH) mutation p.R132H (c.395C>A) mutation in the IDH1 gene and a heterozygous duplication of the CDKN2A genes. Conclusions: The presence of an IDH1 mutation is notable because this mutation is frequently seen in glial tumors and other neoplasms, and its co-occurrence with Maffucci syndrome may represent a novel risk factor for the development of gliomas. This case underscores the importance of genetic testing in patients with Maffucci syndrome who present with central nervous system tumors, as well as the need for further research to understand the relationship between IDH1 mutations and the development of gliomas in this population.

Pineal region tumors are classically presented with vertical gaze palsy, hypothalamic symptoms, or, more often, hydrocephalus, by obstructing the aqueduct. This case report describes a patient with obstructive hydrocephalus and a hearing loss as an initial complaint of pineal region tumor. The patient started to behave aggressively after falling and stopped hearing what his family was saying. Although he could read and speak, most of the time he was not able to understand where he is and attempted multiple times to escape from the hospital. Detailed neurological examination was significant only for slight horizontal nystagmus. The first operation was the placement of external ventricular drainage and the second one was tumor removal. Aggressive behavior stopped after the first operation and hearing loss completely resolved after tumor removal.