Indian Journal of Ophthalmology - Case Reports

OPHTHALMIC IMAGE
Year
: 2021  |  Volume : 1  |  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

Correspondence Address:
Dr. Priya Sivakumar
M.S Ophthalmology, Department of Neuro Ophthalmology and Low Vision Services, Aravind Eye Care, Puducherry - 605 007
India




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;1:881-881


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 Nov 27 ];1:881-881
Available from: https://www.ijoreports.in/text.asp?2021/1/4/881/327704


Full Text



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}

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]

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

References

1Wray 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.
2Engelen M, Kemp S, Poll-The B-T. X-linked adrenoleukodystrophy: Pathogenesis and treatment. Curr Neurol Neurosci Rep 2014;14:486.
3Traboulsi EI, Maumenee IH. Ophthalmologic manifestations of X-linked childhood adrenoleulcodystrophy. Ophthalmology 1987;94:47-52.
4Engelen 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.