Graves' orbitopathy in a patient with adrenoleukodystrophy after bone marrow transplantation

Objective: For many years. the treatment of X-linked childhood cerebral adrenoleukodystrophy (XALD) consisted of hydrocortisone replacement and a mixture of short chain-fatty acids, known as 'Lorenzo's oil'. Recently. bone marrow, transplantation (BMT) has also been used. Case report: We report the case of a patient affected by XALD who developed Graves' hyperthyroidism (GH) and Graves' orbitopathy (GO) after BMT and who we could follow-up for 6.5 years afterwards. Evidence synthesis: A boy affected by XALD was treated at the age of 6 years. with a whole BMT front his sister. One year after BMT. the transplanted patient presented TSH at the lower normal Value and 3 years later he developed thyrotoxicosis. After it further 2 years. the patient developed GO, which showed clinical evidence of reactivation 5 years after its onset as a consequence of an attempt to treat thyrotoxicosis by means of I-131 (300 MBq). Seven years after BMT. the donor showed alterations of thyroid autoimmunity and 1 year thereafter she developed GH. She never presented GO during it Subsequent 5 year follow-up Conclusions: This case illustrates that autoimmunity originating Front it pre-symptomatic donor can be transferred into the host during allogeneic stem cell transplantation. In cases where autoimmune phenomena are recognized in the donor prior to donation. alternative donors or T-cell manipulation of the graft might be considered