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

TL;DR

This case report describes a rare genetic disorder called Maffucci syndrome leading to a skull base tumor and highlights the importance of multidisciplinary care.

Contribution

The novelty lies in presenting a rare case of Maffucci syndrome with skull base chondrosarcoma and cranial nerve complications.

Findings

A 30-year-old male with Maffucci syndrome developed a skull base chondrosarcoma.

Treatment involved subtotal resection and radiation therapy.

The case emphasizes the need for multidisciplinary follow-up to detect malignancy early.

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.

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