title: Maffucci syndrome associated with a pituitary adenoma and a probable brainstem tumor.
abstract: Malignancies are a common feature of Maffucci syndrome, with chondrosarcomas being the most common tumor type. The authors present the first case of Maffucci syndrome associated with a pituitary adenoma and a probable brainstem glioma and review the literature concerning intracranial tumors related to this disease. They report the case of a 35-year-old woman with Marfucci syndrome (diagnosed when she was 22 years old) who presented with complaints of decreased visual acuity and visual field defect. Neuroimaging revealed a pituitary macroadenoma and a suspected brainstem tumor. The macroadenoma was partially removed. There were no postoperative complications and the patient experienced rapid improvement in visual acuity. On follow-up examination 2 years later, the lesion in the pons showed the same dimensions. No sarcomatous changes of enchondromas or hemangiomas occurred. To the authors' knowledge, including the present case, only 7 cases of Maffucci syndrome associated with glioma and 7 cases associated with pituitary adenoma have been reported in the literature. This report emphasizes that patients with this disease are at a higher risk for primary intracranial tumors and reinforces the concept of the multiplicity of tumors that may arise in this syndrome. It also underscores the importance of early diagnosis, regular clinical surveillance, and follow-up studies of these patients.
authors.affiliation: Department of Neuroradiology, Hospital de Santa Maria, Lisbon, Portugal. joruivo@gmail.com
authors.forename: Joana
authors.initials: J
authors.lastname: Ruivo
authors.forename: João Lobo
authors.initials: JL
authors.lastname: Antunes
mesh_terms: D000328:Adult; D020295:Brain Stem Neoplasms / Q000150:complications* / Q000175:diagnosis / Q000601:surgery; D019299:Decompression, Surgical; D004687:Enchondromatosis / Q000150:complications* / Q000175:diagnosis / Q000601:surgery; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009378:Neoplasms, Multiple Primary / Q000150:complications* / Q000175:diagnosis / Q000601:surgery; D009408:Nerve Compression Syndromes / Q000175:diagnosis / Q000601:surgery; D009897:Optic Chiasm / Q000473:pathology; D009901:Optic Nerve Diseases / Q000175:diagnosis / Q000601:surgery; D010911:Pituitary Neoplasms / Q000150:complications* / Q000175:diagnosis / Q000601:surgery; D011149:Pons; D014786:Vision Disorders / Q000175:diagnosis / Q000209:etiology / Q000601:surgery