A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy

Abstract EN

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.