We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Visual loss as first clinical manifestation of X-linked adrenoleukodystrophy.
- Authors
Tosi Ferreira, Maria Angélica; de Oliveira Gonzales, João Francisco; Estima Correia, Elisa Pacheco; Manique Rosa, Rosana Cardoso; Gazzola Zen, Paulo Ricardo; Machado Rosa, Rafael Fabiano
- Abstract
X-linked adrenoleukodystrophy (X-ALD) represents a group of diseases characterized by the accumulation of very long chain fatty acids (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 to show that in cases of visual loss with a normal ophthalmic examination, a high index of suspicion should be given for conditions such as X-ALD, since it affects the cortical routes related to vision. Fundoscopy findings appear late in X-ALD.
- Subjects
ADRENOLEUKODYSTROPHY; MAGNETIC resonance imaging; PEROXISOMAL disorders; VISION disorders; BRAIN imaging
- Publication
Revista Brasileira de Oftalmologia, 2019, Vol 78, Issue 6, p403
- ISSN
0034-7280
- Publication type
Article
- DOI
10.5935/0034-7280.20190170