Radiological Pearls in Imaging of Maffucci Syndrome- A Case Report

Abstract

Maffucci syndrome is a congenital mesodermal dysplasia. The disease is characterised by the presence of multiple soft tissue haemangiomas or slow flow venous malformations and enchondromas and was first described in 1881. This report aims to discuss the clinical and radiological findings of Maffucci syndrome in a 29-year-old female patient who presented with swelling in the right foot and foot deformity. The subsequent history taking and different imaging modalities helped to reach the diagnosis. On Ultrasonography (USG), phleboliths were visible and on Computed Tomography (CT), few calcific foci were noted in planter aspect of right foot in subcutaneous and intermuscular plane with soft tissue enhancement. Hence this case report showed that Maffucci syndrome can present as deformity of limb, multiple soft tissue swellings or with cranial nerve palsy which may suggest an intracranial lesion and close follow-up of patients is required as there are high chances of malignant transformation. Patient in this case was referred to the Neurosurgery Department and later on lost to follow-up.