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Introduction: X-linked adrenoleukodystrophy (X-ALD) is the most-common peroxisomal inborn error of metabolism. Currently, the only effective treatment in the cerebral phenotype is allogeneic hematopietic stem-cell transplantation (HSCT) in selected cases meeting the outcome criteria by Peters C. et al. The aim of this study was to present a working model for the assessment of X-ALD patients in a multidisciplinary team consisting of neurologists and specialists in inborn errors of metabolism, bone-marrow transplantation, imaging, endocrinology, cognition and mental health.

Material and methods: Of 25 patients seen, 16 were symptomatic and nine asymptomatic with elevated plasma very long chain fatty acids. Neurofunctional (Raymond scale),neuroradiological (Loes score), and cognitive (WISC IV) criteria were assessed. Criteria for HSCT were according to Peter C et al (BLOOD, 2011).

Results: Of the 15 symptomatic patients, 11 HSCT was not indicated because of advanced disease. All patients received symptomatic treatment (hormone-replacement therapy). Four  were candidates for HSCT. Two received HSCT (one died 9 months after transplantation) and two possible donors are looked for. Of the presymptomatic patients (10), five received preventive dietary treatment (Lorenzo’s oil and diet). One patient with endocrinological manifestations (pure Addison’s) is also under control.

Conclusion: We consider that X-ADL patients should be evaluated by a multidisciplinary team from disease onset to provide adequate management and follow-up of the disease and its comorbidities as well as family counseling. Unfortunately most of the cases do not meet requirements for HSCT because of advanced disease

childhood cerebral adrenoleukodystrophy,