A Tanzanian Boy with Molecularly Confirmed X‐Linked Adrenoleukodystrophy

Abstract

Adrenoleukodystrophy (ALD) is an X‐linked peroxisomal disorder with classical features, which can be also recognised in a low resource setting. It had been described in various populations across the globe, but very few cases have been reported from Africa. In a boy with features of a progressive central nervous system condition and adrenal failure, ABCD1 gene screening was performed based on a clinical history and basic radiological features which were compatible with ALD. A common ABCD1 mutation was identified in this patient, which is the first report of genetically confirmed ALD in Sub‐Saharan Africa. ALD is likely under recognised in those areas where there is no neurologist. This genetic confirmation widens geographical distribution of ABCD1 ‐associated disease, and illustrates recognisability of this disorder, even when encountered in a low‐resource environment.