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Show Maffucci Syndrome and Intracranial Chondrosarcomas: A Case Report Featuring Spontaneous Resolution of Sixth Nerve Palsy Monique Munro, MD, Fiona Costello, MD, FRCPC, David Burrowes, MD, Ryan Yau, MD, FRCSC Abstract: Maffucci syndrome is a rare disease process characterized by enchondromatosis with cutaneous he-mangiomatosis. We report a 20-year-old woman with Maffucci syndrome with a 5-day history of diplopia. She was found to have a left sixth nerve palsy due to a para-sellar chondrosarcoma. Three weeks later, the patient's diplopia spontaneously resolved. This unusual clinical course prompted us to review frequency of sixth nerve palsy with skull base neoplasms and the phenomenon of spontaneous resolution of diplopia. Journal of Neuro-Ophthalmology 2015;35:41-44 doi: 10.1097/WNO.0000000000000151 © 2014 by North American Neuro-Ophthalmology Society Maffucci syndrome is a rare congenital mesenchymal dysplasia characterized by multiple enchondromas and subcutaneous hemangiomas (1-3) and first described by Angelo Maffucci in 1881. In a 2007 review, 209 cases of Maffucci syndrome had been documented in the literature (4). The cause of this syndrome remains unknown but seems to be nonhereditary, has no gender or racial predi-lection, and karyotypes are normal (2). The enchondromas develop asymmetrically from cartilaginous remnants in the physeal growth plates and predominantly affect long or flat bones (2-5). Patients tend to be severely affected with gross deformities and shortening of the extremities and are often diagnosed as children when bony development is most rapid (3). Clinical findings are typically present at birth or develop in the first year of life in 25% of patients and are seen in nearly 9% by puberty (4). Abnormal cartilaginous proliferation usually arrests when growth ceases and the main complication thereafter is sarcomatous degeneration of the enchondromas and development of systemic malig-nancies (3,5-7). The reported incidence of sarcomatous transformation of enchondromas is 15% (8). Systemic malignancies, predominantly ovarian, pancreatic, and cen-tral nervous system, have been reported in up to 25% of patients. Schwartz et al (9), using life-table analysis, calcu-lated that 100% of patients will develop a malignancy in their lifetime, rendering close surveillance mandatory for all patients (1,3-5,8,10). Among 200 reported cases of malignancies associated with Maffucci Syndrome, less than 10% were located in the skull base, and less than half of these were chondrosarcomas (10). Although chondrosarcomas frequently occur in patients with Maffucci syndrome, intracranial chondrosar-comas are rare, with only 15 cases of skull base chondro-sarcomas reported in association with Maffucci syndrome (3-5,7,10-18). Sixth nerve palsy is a frequent neuro-ophthalmic abnormality in patients with skull base chondrosarcomas (19). Yet, most progress due to mass effect and rarely dem-onstrate spontaneous improvement (3). We document such a case in a patient with Maffucci syndrome. CASE REPORT A 20-year-old woman reported a 5-day history of constant diplopia, which was worsening in severity. She had been diagnosed with Maffucci syndrome 6 years previously with manifestations including left forearm medial deviation, bony changes affecting the hands, and vascular masses of the left toes. She also had a history of ovarian cancer, which Section of Ophthalmology (MM, FC, RY), Department of Surgery, University of Calgary, Calgary, Alberta, Canada; Departments of Clinical Neurosciences (FC) and Radiology (DB), University of Calgary, Calgary Alberta, Canada; and Mitchell Eye Centre, Southern Alberta Eye Center, Calgary, Alberta, Canada. The authors report no conflicts of interest. Address correspondence to Ryan Yau, MD, FRCSC, 5340 1 Street SW, Calgary, AB T2H 0C8, Canada; E-mail: rjhyau@gmail.com Munro et al: J Neuro-Ophthalmol 2015; 35: 41-44 41 Original Contribution Copyright © North American Neuro-Ophthalmology Society. Unauthorized reproduction of this article is prohibited. had been treated with oophorectomy and chemotherapy. Her ocular history was unremarkable. At presentation, visual acuity was 20/20 bilaterally with normal pupillary findings. Ocular motility revealed limited abduction of the left eye and a 14 prism diopter esotropia in primary position. External examination was unremarkable without evidence of proptosis. Confrontational visual field testing was normal, and fundus examination was unremark-able. The remainder of the neurologic examination was within normal limits. Brain magnetic resonance imaging disclosed a mass lesion centered within the left lateral wall of the sella, superior to the main portion of the clivus, and extending to the anterior and posterior clinoids with the dura displaced superiorly. The lesion measured approximately 16 mm in anteroposterior diameter by 17 mm in transverse diameter by 15 mm in the craniocaudal diameter (Fig. 1). Brain parenchyma, major intracranial vascular structures, white matter, and remaining bones were normal. Based on the imaging findings, the lesion was presumed to be composed of chondroid-type matrix arising from bone, most likely chondrosarcoma. At a follow-up appointment 3 weeks later, the patient described complete resolution of diplopia despite receiving no treatment. Because of concern for malignant potential, the patient underwent tumor resection through an endo-scopic transnasal approach. Pathology confirmed a Grade 2 chondrosarcoma (Fig. 2). Three months later, she remained free of diplopia. Extraocular movements were normal, and no other neurological deficits were present. DISCUSSION Neoplasm is a frequent cause of sixth nerve palsy. In a study of 46 patients with skull base tumors done by Pallini et al (20), all patients presented with this cranial nerve palsy. Similarly, Volpe et al (19) found 24/50 patients (49%) with skull base chordoma or chondrosarcoma presented with ocular sypmtoms as the initial manifesta-tion. Sixth nerve palsy was most common, affecting 22 patients (46%) with chordomas and 23 (47%) with chondrosarcomas. Chondrosarcomas occurring at the skull base account for only 6% of skull base tumors, with 0.15% of all intracranial chondrosarcomas (21,22). The most common sites occur at synchondroses, specifically the spheno-occipital and spheno-petrosal junctions (22). Involvement of the sixth nerve may be due to stretch or compression (22-24). The sixth nerve is particularly vulnerable to stretch in its portion from the pontomedullary junction to the dural entry point of the cavernous sinus and subject to compression within the cavernous sinus where it lies in close proximity to the internal carotid artery. Chondrosarcomas are characterized by a slow growth pattern with a soft consistency and potentially can stretch and/or compress the sixth nerve to varying degrees (22). Balcer et al (5) reported a patient with Maffucci syn-drome with intermittent diplopia. Volpe and Lessel (25) described 7 patients with skull base lesions (menin-gioma, chordoma, chondrosarcoma) who experienced improvement in their sixth nerve palsies to varying de-grees. This variable clinical course with periods of spon-taneous improvement in patients with parasellar lesions was noted by Thomas and Yoss (26) over 4 decades ago. Intermitted diplopia has been attributed to a variety of mech-anisms including remyelination, axonal regeneration, tran-sient compression with restoration of impaired blood flow, slippage of a nerve previously stretched by a tumor, or immune responses to the tumor (25). In summary, Maffucci syndrome should be considered when cranial nerve palsies develop in the presence of unusual bone changes and subcutaneous hemangiomas (1,5,10,11,23). Sixth nerve palsy has been documented as one of the most frequent initial findings of an intracranial FIG. 1. Magnetic resonance imaging. Coronal magnetization prepared rapid gradient echo (MPRAGE) images, before (A) and after (B) intravenous contrast show heterogeneous enhancement of a left parasellar lesion (arrow). C. 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