Endocrine Abstracts

Introduction: Adrenaleukodystrophy is an X linked disorder associated with functional defect of very long fatty acid (VLFCA) oxidation leading to accumulation of VLFCA in the white matter of brain and adrenal cortex. It usually presents with adrenal insufficiency and neurological problems and has association with other autoimmune conditions reported so far including vitiligo, ulcerative colitis. We report a case of adrenaleukodystrophy, vitiligo and hypothyroidism.

Case: A 60-year-old male was diagnosed with idiopathic epilepsy at the age 15 was referred to neurology clinic with right foot drop at the age of 20. MRI scan showed marked high signal changes in white matter in occipito-parietal regions bilaterally extending temporal regions, internal capsule and cerebellar peduncles consistent with degenerative disease. After long work up his VLFCA were found to be abnormally elevated. Genetic screening showed Deletion 2252-15del14, affecting the intron 8 splice receptor on X chromosome. Family screening was done. He was referred to our Endocrine clinic with symptoms of hypothyroidism and elevated TSH12.mIU/l and borderline T₄ of 10.3 pmol/l which was confirmed on repeat. Examination revealed small palpable goitre and marked vitiligo. His microsomal antibodies were just positive. He was started on thyroxin and continued on it. Later he was diagnosed with adrenal insufficiency and is currently on hydrocortisone and fludrocortisone.

Conclusion: Hypothyroidism in association with adrenaleukodystrophy and vitiligo is not reported so far. There is one case report in literature with adrenal myeloneuropathy with hypothyroidism but not vitiligo. It is difficult to establish the cause of hypothyroidism in this case whether it is due to adrenaleukodystrophy perse or due to autoimmune process as his microsomal antibodies were slightly positive. This case highlights the importance of looking for other autoimmune diseases in adrenaleukodystrophy as they have been reported increasingly.