Maffucci’s syndrome: clinical and radiological features of a rare condition

Abstract

Maffucci’s syndrome is a rare congenital non-inherited condition, characterized by multiple enchondromata, cutaneous haemangiomata and more recently spindle-cell haemangioma-endotheliomata. It is associated with an increased risk of malignancy including intracranial chondrosarcomas. Early diagnosis is crucial; screening patients with Ollier’s disease is recommended.

The treatment of choice for these intracranial cartilaginous tumours is complete surgical excision but this is often difficult to achieve due to difficult access and relationships with neurovascular structures. An alternative treatment is proton-beam therapy.

We report a case of Maffucci’s syndrome; illustrating the typical clinical and radiological features as well as the known complications of the condition.