Introduction: Adrenoleukodystrophy (ALD) is an X-linked genetic progressive disease affecting the nervous system, the adrenal cortex and the testicles. It is caused by a mutation in ABCD1 (ATP- binding cassette transporter) gene that encodes a protein, responsible for the transportation of very long chain fatty acids (VLCFAs) into the peroxisomes, where they are disposed into the process of beta-oxidation. The defective gene impairs the peroxisomal fatty acid degradation, which results in accumulation of VLCFAs in the body`s tissue. ALD is a heterogeneous disorder, which clinically presents with several distinct phenotypes, which differ in the onset of the disease, the manifestation and the severity of symptoms. As this is an X-linked disorder, it affects mainly men, whereas women experience milder symptoms.
Methods and materials: The case report describes a 38-years old male with a history of Addison`s disease for which he is prescribed with hormone replacement therapy. He was admitted to the neurological clinic with complaints of stiffness in the cervical region and lower extremities, causing staggering, difficulties in walking and disrupted sleep. The symptoms have deteriorated severely throughout the years, demonstrating the neurodegenerative character of ALD.
Results: Computed Tomography reveals atrophic changes in the myelon, distal of Th1 (thoracic vertebrae) reducing the transversal size up to 4.5mm. On Electromyelography there is evidence for a demyelinating polyneuropathy of the lower extremities and anterior root damage. The genealogic examination - taking into consideration the clinical and genealogical data for peroxisomal assembly disease, concludes the patient has ALD. A course of physiotherapy combined with corticosteroids is well-tolerated and the patient`s neurologic status has improved.
Conclusion: ALD is considered a rare condition but its rapid progression, especially in the juvenile forms, can result in a vegetative state and paraparesis. Thus, clarifying the diagnosis in early stages, has a crucial role in the disease`s progression and manifestation.
