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Show Journal of Neuro- Opluhalmology 19( 1): 62- 66, 1999. © 1999 Lippincott Williams & Wilkins, Inc., Philadelphia Neuro- Ophthalmologic Manifestations of Maffucci's Syndrome and Oilier's Disease Laura J. Balcer, M. D., Steven L. Galetta, M. D., Patients with Oilier's disease ( multiple skeletal enchondromas) and Maffucci's syndrome ( multiple enchondromas associated with subcutaneous hemangiomas) may develop skull base chondrosarcomas or low- grade astrocytomas as a delayed consequence of these disorders. We report three patients with Oilier's disease and Maffucci's syndrome who had diplopia as the initial manifestation of intracranial tumors. Since patients with Maffucci's syndrome and Ollier's disease are at risk for the delayed development of brain and systemic neoplasms, neuro-ophthalmologists must be aware of the need for long- term surveillance in patients affected by these conditions. Key Words: Astrocytoma- Chondrosarcoma- Diplopia- Maffucci's syndrome- Ollier's disease. Maffucci's syndrome is a rare, nonfamilial disorder characterized by multiple enchondromas ( cartilaginous tumors) and subcutaneous hemangiomas ( 1- 4). Patients with Maffucci's syndrome and Ollier's disease ( multiple enchondromas without hemangiomas), are often diagnosed during childhood when bony deformities of the limbs and other skeletal structures develop ( 1- 4). Since the major distinction between Maffucci's syndrome and Ollier's disease is the presence versus absence of cutaneous hemangiomas, these congenital disorders are thought to comprise a continuum of mesodermal dysplasias ( 1- 4). Fewer than 200 cases of Maffucci's syndrome have been reported in the literature since this disorder was first described a century ago. Malignant transformation of enchondromas occurs frequently in Maffucci's syndrome and Ollier's disease ( 1- 4), resulting in chondrosarcomas. Patients with these syndromes are also at high risk for the development of other benign or malignant tumors, including pituitary ad- Manuscript received June 1, 1998; accepled December 2, 1998. From the Division of Ncuro- ophthalmology ( L. J. B., S. L. G., G. T. L.), Departments of Neurology and Ophthalmology, Hospital of the University of Pennsylvania, Scheie Eye Institute; University of Pennsylvania School of Medicine, Philadelphia; and the Departments of Neurology and Ophthalmology ( W. T. C.), Kellogg Eye Center, University of Michigan, Ann Arbor, U. S. A. Address correspondence and reprint requests to Dr. Laura J. Balcer, Department of Neurology, 3 East Gates, 3400 Spruce Street, Philadelphia, PA 19104, U. S. A. Wayne T. Cornblath, M. D., and Grant T. Liu, M. D. enoma, astrocytoma, and ovarian and pancreatic carcinoma ( 1- 5). Systemic malignancies may be present in up to 25% of patients with Maffucci's syndrome ( 4). Intracranial tumors in patients with Maffucci's syndrome and Ollier's disease often present with neuro-ophthalmologic signs and symptoms, including diplopia and visual loss. Sixth nerve palsy has been described in several reports, frequently as the initial manifestation of brain stem astrocytoma ( 6) and skull base chondrosarcoma ( 5,7- 11). Optic neuropathies ( 9,12- 14) and chiasmal syndromes ( 15) have also been reported in patients with sellar enchondromas, chondrosarcomas, and orbital hemangiomas. Given the potential for intracranial and systemic malignancies in patients with Maffucci's syndrome and Ollier's disease, recognition of these uncommon disorders by neuro- ophthalmologists may be extremely important. We report the neuro- ophthalmologic, radiographic, and pathologic findings in three patients with Maffucci's syndrome and Ollier's disease. All had developed diplopia as the initial manifestation of intracranial tumors. CASE REPORTS During 1994 and 1995, two patients with previously diagnosed Ollier's disease and one patient with Maffucci's syndrome were evaluated for symptoms of binocular horizontal diplopia. The clinical characteristics of these patients are summarized in Table 1. At the time of initial neuro- ophthalmologic evaluation, the patients ranged in age from 13 to 31 years. Two of the patients were female. Patient 1 had a history of facial hemangioma and therefore met diagnostic criteria for Maffucci's syndrome. All three patients had been diagnosed with Ollier's disease during early childhood. Case 1 In August 1994, a 31- year- old man was evaluated for a 6- month history of progressive left- side weakness, intermittent right facial pain, and blurred vision. Ollier's disease had been diagnosed when he was 2 years of age, and he had undergone numerous orthopedic procedures 62 MAFFUCCI'S SYNDROME AND OILIER'S DISEASE 63 TABLE 1. Neuro- ophthalmologic findings and tumor pathology Patient Age Sex Examination findings Intracranial tumor pathology 1 3J M Right Vlth nerve palsy Left hemiparesis Optic disc swelling Right Horner's syndrome 2 23 F Right Vlth nerve palsy Right peripheral Vllth nerve palsy 3 13 F Left Vlth nerve palsy Left V,- V2 facial sensory loss Chondrosarcoma-skull base Astrocytoma- frontal, brainstem Astrocytoma- pons Chondrosarcoma-skull base for enchondromas and bony deformities. A below- the-knee amputation had been performed at age 12. In 1986, a hemangioma had been removed from his face; the patient was then diagnosed with Maffucci's syndrome at that time. He also had a history of intermittent horizontal diplopia which had begun in 1987. An MR1 of the brain had demonstrated a right skull- base mass; pathology of the mass following craniotomy was consistent with echondroma. Neuro- ophthalmologic examination in August 1994 revealed visual acuity of 20/ 25 in the right eye and 20/ 20 in the left. There was anisocoria and mild right ptosis, consistent with Horner's syndrome. A right abduction deficit was present, and bilateral optic disc swelling was noted. His speech was dysarthria There was left- sided hemiparesis with hyperreflexia and an extensor plantar response. A hemangioma was noted on the dorsum of the left hand and fifth finger. An MRI of the brain revealed multiple areas of abnormal signal intensity on T2- weighted images in the medulla, pons, frontal lobes, left temporoparietal region, and right occipital lobe ( Fig. 1A). Tl- weighted MR images also demonstrated a large enhancing mass arising from the right petrous bone and compressing the ventrolateral brain stem ( Fig. 1C). Stereotactic biopsy of the right frontal lobe lesion revealed low- grade astrocytoma ( Fig. IB); pathology of the petrous mass, debulked by Flu. i . Patient l . ( A) Axial I ^- weighted magnetic resonance image demonstrating multiple areas of abnormal increased signal intensity. ( B) Stereotactic biopsy of the right frontal lobe lesion revealed low- grade astrocytoma. ( C) Axial T1 - weighted magnetic resonance image with gadolinium showing enhancing mass arising from right petrous bone. ( D) Pathology of the petrous mass revealed low- grade chondrosarcoma. 64 L. J. BALCER ET AL. craniotomy, was consistent with low- grade chondrosarcoma ( Fig. ID). After surgery, the left hemiparesis improved. Evaluation for other systemic malignancies at that time was unrcvealing. Case 2 A 23- year- old woman was examined in October 1995 for a history of progressive binocular horizontal diplopia. As in the case of Patient 1, Ollier's disease had been diagnosed in childhood, and the patient had undergone multiple surgical procedures to correct knee deformities. In 1988, she had presented with mild headache, fatigue, and diplopia. An MRI performed at that time revealed enlargement and abnormal increased signal intensity within the pons on T2- weighted images ( Fig. 2A). This area did not enhance on Tl- weighted images and was consistent radiographically with a low- grade astrocytoma. She received hyperfractionated radiotherapy with some improvement of the double vision and slight decrease in size of the pontine tumor. At the time of examination in October 1995, the patient reported a 2- month history of worsening binocular horizontal diplopia. Visual acuities were 20/ 20 + 2 in both eyes. Pupils, color vision, and confrontation visual fields were normal. A marked right abduction deficit was noted; Maddox rod testing confirmed a 40- to 45- D esotropia in primary gaze which increased to more than 45 D in right gaze. The remainder of the examination was remarkable for right peripheral seventh nerve palsy and left- sided hyperreflexia. No cutaneous hemangiomas were present. A skeletal survey confirmed the presence of multiple areas of increased density in the femurs ( Fig. 2B) and in the right iliac bone, consistent with enchondromas. Case 3 In November 1994, a 13- year- old girl presented with a 3- week history of progressive binocular horizontal diplopia on left gaze, left facial numbness, and dizziness. She reported a brief episode of similar diplopia that had occurred 1.5 years earlier. Ollier's disease had been diagnosed at age 2 years following a motor vehicle accident. Multiple lengthening procedures had been performed on her left leg. On neuro- ophthalmologic examination, there was a complete left abduction deficit. Visual acuities were 20/ 20 in both eyes. Pupils, confrontation visual fields, and findings in fundus examination were normal. Facial sensation was decreased in the V, and V2 distributions on the left. An MRI of the brain demonstrated a 4.5 x 3.5 x 3.2- cm enhancing skull base tumor arising from the left clivus and sellar region ( Fig. 3A). There was extension of the FIG. 2. Case 2. ( A) Axial T2- weighted magnetic resonance image demonstrating enlargement and abnormal increased signal intensity within the pons, consistent with low- grade astrocytoma. ( B) Roentgenogram of right femur showing expansive lesion in proximal lateral femoral condyle ( arrow), representing an enchondroma. J Neiim- Oplillmlnml, Vol. 19. No. I, 1999 MAFFUCCI'S SYNDROME AND OLLFER'S DISEASE 65 mass into the left cavernous sinus with compression of the left brain stem and elevation of the optic chiasm. Biopsy of the tumor at craniotomy revealed low- grade chondrosarcoma. DISCUSSION Patients with Maffucci's syndrome and Ollier's disease may have diplopia or other neuro- ophthalmologic signs as initial features of intracranial enchondromas, chondrosarcomas, or astrocytomas. These tumors occur infrequently in patients with Maffucci's syndrome and Ollier's disease ( 5- 25). Of the 172 reported patients with Maffucci's syndrome, only 6 ( 5,8,13,17,19) had skull base chondrosarcomas. Astrocytomas have been described in approximately eight cases of Maffucci's syndrome ( 1,20). Skull base chondrosarcomas ( 9,10,21), enchondromas ( 11,15,22), and astrocytomas ( 6,14,23- 25) are likewise rare among patients with Ollier's disease. In the follow- up and surveillance of patients with Maffucci's syndrome and Ollier's disease, a history of horizontal diplopia consistent with sixth nerve palsy should especially be sought. Sixth nerve palsy is the most frequently described neuro- ophthalmologic finding among patients with these disorders ( 5- 11) and was present in all of our patients. Volpe et al. ( 26) found that among 49 patients with skull base chondrosarcomas, 23 ( 47%) had abducens nerve palsies at the time of diagnosis. Therefore, the relatively frequent occurrence of sixth nerve palsy as an initial sign of intracranial tumors in patients with Maffucci's syndrome and Ollier's disease is not surprising. The potential for sarcomatous degeneration of enchondromas and for the development of other systemic malignancies ( 1- 5) makes close follow- up and surveillance mandatory for all patients with Ollier's disease and Ma- FIG. 3. Patient 3. Coronal T1- weighted magnetic resonance image demonstrating enhancing mass arising from left middle fossa. Pathology of the mass revealed low- grade chondrosarcoma. ffucci's syndrome. Magnetic resonance or computed tomographic scanning should be performed promptly in patients with Ollier's disease or Maffucci's syndrome who develop new or worsening neuro- ophthalmologic findings. Periodic neuro- ophthalmologic examinations and neuroimaging studies may also be appropriate in such patients. REFERENCES 1. Albregts AE, Rapini RP. Malignancy in Maffucci's syndrome. 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