X-linked adrenoleukodystrophy: literature review, description of clinical cases

X-linked adrenoleukodystrophy (X-ALD) is an orphan hereditary disease belonging to the group of peroxisomal diseases with an X-linked recessive type of inheritance, associated with mutations in the ABCD1 gene, characterized by combined damage to the nervous system and adrenal glands. The article provides a review of the literature on this nosology with a description of the etiopathogenesis, clinical picture, diagnostic methods, differential diagnosis and treatment options for this disease. The article describes clinical cases of three patients who were hospitalized in the neurological department № 2 of Pavlov University between 2018 and 2024, based on their complaints, neurological examination data, and laboratory and instrumental diagnostic methods, they were diagnosed with X-ALD. In all the presented clinical cases, more than 3 years passed from the onset of the first symptoms to the final diagnosis, which is due to the difficulty of diagnosing X-ALD at early stages due to the polymorphism of the clinical picture: from classical manifestations of encephalopathy to infrequently encountered manifestations of myelopathy and polyneuropathic syndrome in this nosology. In this regard, timely diagnosis of the disease is important, since effective disease-modifying treatment methods can only be effective if therapy is started in a timely manner.