Loes Score in X-linked Adrenoleukodystrophy, Correlating with Neurological Symptoms: A Retrospective Analysis

Background and Aims: X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder caused by mutations in the ABCD1 gene, results in beta-oxidation defect within the peroxisomes and leading to the accumulation of very long chain fatty acids. In his research, Loes et al. ( AJNR Am J Neuroradiol . 1994;15(9):1761–6) developed a magnetic resonance imaging (MRI) scoring system on the basis of the anatomical location and involvement of white matter fibres to predict clinical outcomes. The primary objective of our study is to establish a clinical correlation between the Loes score and the neurological symptoms observed in patients with X-ALD. Materials and Methods: In our institution, during the study period from 2018 to 2024, 18 patients diagnosed with molecularly and genetically confirmed X-ALD were retrospectively evaluated. Clinical symptoms at presentation and MRI brain findings were assessed with the Loes score. Results: Among 18 patients, 10 patients presented without neurological symptoms, with only one of them showing a higher Loes score (>10). Of 8 patients with neurological symptoms, 5 had a Loes score higher than 10. Also, 6 patients with lower Loes score (<4), had no neurological symptoms. The Loes score has a higher sensitivity (87.50%) and a negative predictive value (85.70%) with lower specificity for detecting neurological symptoms. Conclusion: The Loes score acts as a preliminary predictor of neurological involvement in paediatric X-ALD cases. Early diagnosis and treatment with haematopoietic stem cell transplantation and continuous monitoring with MRI study play a crucial role in the patient’s prognosis and survival.