X-LINKED ADRENOLEUKODYSTROPHY: AN OVERLOOKED DIAGNOSIS IN ADDISON'S DISEASE

X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal fatty acid beta-oxidation disorder. ABCD1 located at Xq28 is the causative gene.In males,X-ALD is considered to be a frequent cause of Addison's disease (AD).We report the case of an 11-year-old boy who presented with AD and cutaneous hyperpigmentation.He had been diagnosed with pulmonary tuberculosis at eight months.At the age of seven years, he was diagnosed with AD. MRI revealed megalencephaly and butterfly-shaped hyperintensities in the frontal region. This prompted us to consider the possibility of X-ALD. Sequencing of ABCD1 revealed a de novo missense mutation (c.1201C>T;p.Arg401Trp). One year later, after suffering two recurrent episodes of grand-mal seizures followed by loss of vision and speech,the patient became stuporous and remained in this state until death at the age of 13.Identification of X-ALD in children during early stages would give them an opportunity for better treatment/management options.