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 Table of Contents  
OPHTHALMIC IMAGE
Year : 2021  |  Volume : 1  |  Issue : 4  |  Page : 881

X-linked adrenoleukodystrophy – Garland in the brain seen through the eye


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 Publication09-Oct-2021

Correspondence Address:
Dr. Priya Sivakumar
M.S Ophthalmology, Department of Neuro Ophthalmology and Low Vision Services, Aravind Eye Care, Puducherry - 605 007
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_690_21

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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

How to cite this URL:
Lakhani B, Sivakumar P. X-linked adrenoleukodystrophy – Garland in the brain seen through the eye. Indian J Ophthalmol Case Rep [serial online] 2021 [cited 2021 Oct 28];1:881. Available from: https://www.ijoreports.in/text.asp?2021/1/4/881/327704



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.[1],[2] Early hematopoietic stem-cell transplantation is the only therapeutic approach to arrest cerebral demyelination.[3],[4]

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Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Wray SH, Cogan DG, Kuwabara T, Schaumburg HH, Powers JM. Adrenoleukodystrophy by disease of the eye and optic nerve. Am J Ophthalmol 1976;82:480-5.  Back to cited text no. 1
    
2.
Engelen M, Kemp S, Poll-The B-T. X-linked adrenoleukodystrophy: Pathogenesis and treatment. Curr Neurol Neurosci Rep 2014;14:486.  Back to cited text no. 2
    
3.
Traboulsi EI, Maumenee IH. Ophthalmologic manifestations of X-linked childhood adrenoleulcodystrophy. Ophthalmology 1987;94:47-52.  Back to cited text no. 3
    
4.
Engelen M, Kemp S, de Visser M, van Geel BM, Wanders RJ, Aubourg P, et al. X-linked adrenoleukodystrophy (X-ALD): Clinical presentation and guidelines for diagnosis, follow-up and management. Orphanet J Rare Dis 2012;7:51.  Back to cited text no. 4
    


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