The X-linked adrenoleukodystrophy. Case report and review of the literature

Abstract

This review presents a rare clinical case of adrenoleukodystrophy in the current context. Adrenoleukodystrophy (ADL) is a rare peroxisomal disorder which is X-linked and presents with multiple manifestations that are often progressive and cannot be detected before or during birth leaving the disease manifestations to develop over time. Case description: The case is about a 13-year-old male patient who since the age of 6 years was brought to consultation by his parents for presenting abrupt changes in his development with loss in muscle tone and progressive cognitive impairment. During the first consultation, complementary examinations were performed in order to find the cause of the problem, and he was referred to multiple specialties, although at the beginning there was no clear diagnosis. The results of a DNA screening in Germany confirmed the diagnosis of the disease and the examination showed that the gene was transmitted by inheritance from the maternal family. Conclusion: An early diagnosis will help to treat the pathology early, in addition to monitoring the family that is a carrier of the gene will help to determine the previous existence of possible new cases, in addition to the need to review and update the literature on the pathology.