Visual loss as first clinical manifestation of X-linked adrenoleukodystrophy

• Autor(a) principal: Ferreira,Maria Angélica Tosi
• Data de Publicação: 2019
• Outros Autores: Gonzales,João Francisco de Oliveira, Correia,Elisa Pacheco Estima, Rosa,Rosana Cardoso Manique, Zen,Paulo Ricardo Gazzola, Rosa,Rafael Fabiano Machado
• Tipo de documento: Relatório
• Idioma: eng
• Título da fonte: Revista Brasileira de Oftalmologia (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802019000600403
• topic: Adrenoleukodystrophy; Peroxisomal disorders; Vision disorders; Blindness, cortical; Magnetic resonance imaging

Abstract X-linked adrenoleukodystrophy (X-ALD) represents a group of diseases characterized by the accumulation of very long chain fattyacids (VLCFAs) in the tissues. Its clinical manifestations are usually manifold. Visual changes may be present, but they often appear later in the disease. We describe here the case of a 9-year-old boy with X-ALD, whose first symptom was visual loss, which began at 8 years of age. His ophthalmologic evaluation revealed no alterations. Shortly thereafter, he suffered a head injury. The magnetic resonance imaging of brain revealed findings that led to the suspicion of X-ALD. The plasma VLCFA dosage confirmed this diagnosis. This report aims toshow that in cases of visual loss with a normal ophthalmic examination, a high index of suspicion should be given for conditions suchas X-ALD, since it affects the cortical routes related to vision. Fundoscopy findings appear late in X-ALD.