A journey with Maffucci syndrome: From skull base chondrosarcoma to multiorgan management: A case report and literature review

Abstract

Maffucci syndrome is a very infrequently occurring genetic disorder. The 2 classic findings are enchondromas and hemangiomas with a high propensity to become malignant, leading to the formation of chondrosarcomas. In this study, we present the case of a 30-year-old male patient diagnosed with chondrosarcoma at the base of the skull related to Maffucci syndrome who presented with disturbances in visual perception and a palsy of the cranial nerve VI. His imaging studies confirmed the diagnosis; treatment included subtotal resection followed by radiation therapy. The following is the case that epitomizes the dreaded complications of Maffucci syndrome and the need for multidisciplinary, attentive follow-up to find early signs of malignant transformation.