|Year : 2021 | Volume
| Issue : 4 | Page : 881
X-linked adrenoleukodystrophy – Garland in the brain seen through the eye
Basitali Lakhani1, Priya Sivakumar2
1 Department of General Ophthalmology, Aravind Eye Care, Puducherry, India
2 Neuro Ophthalmology and Low Vision Services, Aravind Eye Care, Puducherry, India
|Date of Web Publication||09-Oct-2021|
Dr. Priya Sivakumar
M.S Ophthalmology, Department of Neuro Ophthalmology and Low Vision Services, Aravind Eye Care, Puducherry - 605 007
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Lakhani B, Sivakumar P. X-linked adrenoleukodystrophy – Garland in the brain seen through the eye. Indian J Ophthalmol Case Rep 2021;1:881
A 4-year-old boy presented with progressive defective vision. His bilateral visual acuity was 2/60 with afferent pupillary defect and disc pallor [Figure 1]a. Magnetic Resonance Imaging (MRI) brain revealed bilateral parieto-occipital T2-weighted-Fluid-Attenuated Inversion Recovery (T2/FLAIR) hyper-intensities with garland-shaped enhancement [Figure 1]b classical of X-linked adrenoleukodystrophy, confirmed by elevated serum very long-chain fatty acid (VLCFA).
|Figure 1: (a) Fundus photo showing pale disc and (b) MRI brain showing 'Garland' sign|
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An inherited mutation in ABCD1 gene on X-chromosome leads to accumulation of VLCFA in adrenal cortex, testis and white matter of brain leading to adrenal insufficiency, hypogonadism, visual impairment, hyperactivity, poor school performance and neuro-degeneration., Early hematopoietic stem-cell transplantation is the only therapeutic approach to arrest cerebral demyelination.,
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There are no conflicts of interest.
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