Deformity Correction and Limb Lengthening in Maffucci Syndrome - A Case Report

?Maffucci syndrome (MS) is a rare disorder with enchondromatosis associated with multiple hemangiomas in soft tissue and internal organs. Enchondromas in the long bone lead to limb length discrepancy, deformity, and pathological fractures that usually need corrective osteotomies and limb lengthening.

A female in her late adolescence with MS presented with significant varus deformity of the distal femur and left lower limb shortening of 11.5 cm. She underwent an acute correction of the varus with a distal femur osteotomy and gradual femoral lengthening using a monolateral fixator. She sustained a pathological fracture through the regenerate, needing an intramedullary nail stabilisation during follow-up. At a 2-year follow-up, the patient was left with a residual shortening of 5 cm, corrected with a shoe raise. She could walk full weight bearing and independently with her day-to-day activities and function.

MS can present with significant limb length discrepancy and angular deformities. This case aims to inform clinicians of the diagnosis and management of this rare condition and highlight the importance of regular follow-up after complex surgery, and the impact coronavirus disease-19 lockdowns had on the inability of patients to do so.