Adrenoleukodystrophy in a Nigerian boy: A case report and review of literature

Abstract

Adrenoleukodystrophy (ALD) is a hereditary, X-linked metabolic disorder with autosomal recessive traits. It arises from mutation in ABCD1 gene on chromosome Xq28. This mutation leads to demyelination of the nervous system, adrenal insufficiency and accumulation of Long Chain Fatty Acids (LCFA). The long chain fatty acids accumulates in tissues throughout the body but the most severely affected tissues are the myelin in the central nervous system, the adrenal cortex and the Leydig cells in the testes. The phenotypic presentations are highly variable which may lead to delayed recognition and misdiagnosis. Most young patients with ALD develop seizures and progressive neurological deficits. It may initially manifest with alterations of behaviour, hearing, vision, speech, gait and in more advanced cases, it results in generalized hypertension, dysphagia and loss of cognitive and motor function. We report a case of adrenoleukodystrophy in a Nigerian boy and also review the existing literature on the condition to increase the awareness and knowledge of this disorder.