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

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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Journal
Radiology Case Reports
Published
2025-05-02
DOI
https://doi.org/10.1016/j.radcr.2025.04.027
Primary Topic
Bone Tumor Diagnosis and Treatments
Type
article
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article

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

Ahmed Abdelfattah Bayomy Nofal, Aseel Eid, Jehad Khamaysa, Zaid Sawaftah et al.
Radiology Case Reports
Bone Tumor Diagnosis and Treatments
article

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

Ahmed Abdelfattah Bayomy Nofal, Aseel Eid, Jehad Khamaysa, Zaid Sawaftah, Omar Sawafta, Somaya Al Kiswani, Jana Dibas, Nader Sarhan
article en

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.

Radiology Case ReportsVol. 20(7)
An-Najah National University (PS), King Hussein Cancer Center (JO)
Openalex Percentile: Top 85%
Bone Tumor Diagnosis and Treatments
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A journey with Maffucci syndrome: From skull base chondrosarcoma to multiorgan management: A case report and literature review — Ahmed Abdelfattah Bayomy Nofal, Aseel Eid, et al. · Radiology Case Reports (2025) | TGRS Research Map | TGRS