Background: MRS/MFS is a rare multisystem disorder with a poor prognosis. The high mortality rate of this syndrome is related to the severity of the associated gastrointestinal, pancreatic, and hepatobiliary conditions, as most of them are not amenable to conventional medical and surgical treatments.
Methods: We report the case of a Romani girl with all the key clinical features of MRS/MFS, and a review of cases reported in the literature.