Maffucci's Syndrome and Intracranial Chondrosarcoma

Abstract

In 1881, Maffucci described the syndrome bearing his name.1 It is a rare mesodermal disorder consisting of multiple enchondromata and hemangiomata. Nineteen years later, Ollier described enchondromatosis without the hemangiomata, a disease which would later bear his name. CASE REPORTA 42-year-old black female presented to our institution with a 2-year history of progressive headaches, hemifacial spasms on the right, and ataxia. Neurologic examination revealed that she was lethargic with evidence of papilledema, multiple cranial nerve palsies, long tract findings, and cerebellar dysfunction. The preoperative bilateral auditory evoked response (BAER) and audiogram were abnormal, with sensory neural hearing loss on the right with evidence of retrocochlear involvement. A computerized tomographic (CT) scan and magnetic resonance imaging (MRI) scans with contrast revealed a very large tumor in the posterior fossa extending along the petrous ridge, superiorly through and into the posterior aspect of the cavernous sinus and extending well above the posterior clinoids into the diencephalon (Figs. 1, 2, 3). The tumor measured over 6 cm and was calcified irregularly. The tumor extended into the posterior fossa with deformation of the cerebellum and pons with compression of the neural axis with associated hydrocephalus. The tumor also extended above the tentorium with compression of the midbrain. The patient was treated with high doses of steroids and then underwent the first of her staged operations. The patient underwent a petrosal approach which provided access for both pre-and retrosigmoid routes to the tumor. A very large, extensively calcified tumor with spicules of bone was encountered. The tumor was shown to press against the pons and cerebellum, encircle the ninth and tenth cranial nerves, and completely surround the seventh and eighth nerve complex. The tumor extended from the petrous ridge to the petrous apex, completely surrounding the fifth and sixth cranial nerves and extending superiorly to press against the midbrain and third and fourth cranial nerves. The tumor also extended well above to the posterior clinoids. An arachnoid plane was developed between the tumor and the pons such that the tumor could be removed. With an incision through the tentorium via a presigmoid route, additional tumor was removed also from the midbrain and around the third and fourth cranial nerves. A gross total resection was achieved through this approach with 49

Spinal drop metastasis from grade I skull base chondrosarcoma

“…19 Though extremely rare, malignant transformation of skull base chondrosarcoma has been reported, particularly with the mesenchymal subtype. 20 The case presented here describes the first report of CSF dissemination in a patient with a low-grade conventional type chondrosarcoma.…”

18‐Year‐Old Woman with a Dural Mass

“…Intracranial chondromas may occur at any age, although they are most frequently seen in younger individuals with a peak in the third decade . They are usually solitary lesions but may be a component of Maffucci's syndrome (multiple enchondromata and hemangiomata) or Ollier's disease (enchondromatosis without hemangiomata) . In both of these syndromes, the chondromas may undergo malignant transformation.…”

Maffucci' s syndrome complicated by intracranial chondrosarcoma: two new illustrative cases

“…Since these tumors occur in areas derived from cartilaginous matrix, the intracranial lesions invariably arise at the skull base, that is embryologically derived from cartilage. The sphenoid bone was found to be the most common site of enchondromas of the skull in both Maffucci , s syndrome and Ollier's disease 16,17 .…”