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Adrenoleukodystrophy - a case report

Kristiyana Dimitrova, Mihaela Ruseva, Natalia Dencheva, Daniela Arabadzhieva, Ivan Angelov

Abstract

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.


Keywords

adrenoleukodystrophy; genetic disease; neurodegenerative




DOI: http://dx.doi.org/10.14748/ssvs.v2i0.4664

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