The behavior of an enchondroma in Maffucci syndrome tends to be more locally
aggressive, and its malignant transformation to a chondrosarcoma is the most severe complication associated with the disease. The reported incidence of secondary chondrosarcomas (malignant progression of enchondromas) in all locations is highly variable, ranging in the literature from 5% to 55%, mainly due to the paucity of cases.8 and 9Case Illustration
History and Examination
A 22-year-old man with Maffucci syndrome was referred for neurosurgical evaluation of a skull buy Q-VD(OMe)-OPh lesion discovered on a head computed tomography scan after a generalized tonic clonic seizure.
The patient had short stature, leg length discrepancies, and bowing deformity, and had developed multiple asymmetric palpable nodular masses on his upper extremities. The skin of his hand showed areas of bluish discoloration consistent with hemangiomas and phlebectasia (Figure 1), which had been present since childhood. On neurologic examination, there was a left temporal visual field deficit but no other neurologic findings.
Figure 1. (A) Preoperative coronal T1-weighted image with gadolinium. (B) Preoperative sagittal T1-weighted image with gadolinium. (C, D) Preoperative axial T1-weighted images with gadolinium. (E, F) Hand deformity secondary to enchondromas and skin hemangiomas.Figure optionsDownload full-size imageDownload high-quality image (881 K)Download as PowerPoint slide
Radiologic Investigation
The radiologic investigation with a head computed tomography scan showed a large skull base bone lesion involving the clivus, petrous apex, and sphenoid sinus, with extension to the nasal cavity and suprasellar region. Magnetic resonance imaging demonstrated an intra- and extradural heterogeneous lesion, iso-/hypointense on T1-weighted images, hyperintense in T2-weighted images, with moderate heterogeneous contrast enhancement. The optic apparatus was dislocated superiorly due to the mass effect of the suprasellar component of the tumor (Figure 1).
Operation
A one-stage expanded EEA and skull base reconstruction was performed as described previously.26 We used the navigation system for intraoperative orientation due to the destruction of the bone anatomy of the ventral skull base. The surgical goal of decompression of the optic apparatus was successfully achieved with subtotal resection of the tumor (Figure 2).
Figure 2. Intraoperative images. (A, B) Tumor drilling and dissection. (C) Navigation of the suprasellar region. (D) Optic apparatus decompression. (E, F) Reconstruction of the skull base with fascia lata, cartilage, and mucosal nasal septal flap.Figure optionsDownload full-size imageDownload high-quality image (775 K)Download as PowerPoint slide
Postoperative Course
The postoperative course was uneventful with visual improvement and the patient was discharged home after 5 days. The patient presented with cerebrospinal fluid rhinorrhea on postoperative day 10, due to dislocation of the mucosal nasal septal flap. He underwent re-operation to reposition the flap and recovered uneventfully.