X-Linked Adrenoleukodystrophy: A Heterogeneous Peroxisomal Disorder you Should Not Miss

• Autor(a) principal: Lopes das Neves, Pedro
• Data de Publicação: 2024
• Outros Autores: Durães, João, Monteiro, Isabel, Diogo, Luísa, Macário, Maria do Carmo
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• DOI: 10.46531/sinapse/CC/220057/2022
• Texto Completo: https://doi.org/10.46531/sinapse/CC/220057/2022
• topic: Adrenoleukodystrophy/ diagnosis; Adrenoleukodystrophy/ genetics; Adrenoleukodystrophy/ therapy; Adrenoleucodistrofia/ diagnóstico; Adrenoleucodistrofia/genética; Adrenoleucodistrofia/ tratamento

X-linked adrenoleukodystrophy (X-ALD) is a rare peroxisomal disease caused by a mutation in gene ABCD1, impairing peroxisomal b-oxidation of very long-chain fatty acids. It has a heterogeneous clinical presentation that may difficult the diagnosis, with three main phenotypes: an Addison syndrome-like phenotype with adrenal insufficiency; a myeloneuropathic form, which progresses as a spastic paraparesis; a cerebral form with potentially extensive brain demyelination. Females can present with a phenotype resembling the myeloneuropathic form, but with a slow progression. Prompt recognition and diagnosis are essential, as allogenic hematopoietic stem cell transplantation can be offered for the cerebral form of the disease, the phenotype with the worst prognosis. We present four clinical cases of patients followed in our neurometabolic reference centre with X-ALD, highlighting different clinical presentations, diagnostic workup, management and possible clues for the diagnosis.