Case Report: Renal impairment and bilateral cataracts in a patient with Maffucci syndrome

Abstract

Maffucci syndrome is a sporadic, non-hereditary condition that is characterized by the presence of multiple skeletal and vascular lesions. We present the case of a 37-year-old man who complained of multiple swellings on the hands, face and wrists affecting the quality of his life. Bilateral cataract and renal impairment were two other features identified in our patient. Renal impairment was likely due to renal vascular malformation, as all other causes of renal compromise were ruled out. Radiographic images showed multiple radiolucent areas in both hands. Multiple enchondromas with pathologic confirmation of skin lesions as cavernous haemangiomas confirmed the diagnosis of Maffucci syndrome in our patient. The patient was referred to the orthopaedic department for osteotomy. Currently, the patient is on dialysis and no other complications have been observed in follow-up visits. This is the first report of Maffucci syndrome which discusses renal involvement. Regular screening of renal functions in patients with Maffucci syndrome could prevent renal complications.