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adrenoleukodystrophy

Adrenoleukodystrophy

A 45-year-old Caucasian woman presented with chronic bilateral, painless, progressive, peripheral vision loss. She was found to have bilateral optic atrophy and non-enhancing multifocal white matter lesions on magnetic resonance imaging of the brain. Cerebrospinal fluid analysis showed elevated myelin basic protein. She was diagnosed as the carrier state of X-linked adrenoleukodystrophy (X-ALD). X-ALD can mimic the clinical and radiographic features of multiple sclerosis in a female carrier. This is the first case report of bilateral optic atrophy in a female X-ALD carrier in the English ophthalmic literature 1).

1)
Shamim MM, Vickers A, Lee AG, Costello F. The X Factor. Surv Ophthalmol. 2018 Dec 3. pii: S0039-6257(18)30308-4. doi: 10.1016/j.survophthal.2018.11.003. [Epub ahead of print] PubMed PMID: 30521817.
adrenoleukodystrophy.txt · Last modified: 2018/12/08 13:05 by administrador