An unusual presentation of X-linked adrenoleukodystrophy
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چکیده
منابع مشابه
An unusual presentation of X-linked adrenoleukodystrophy
UNLABELLED X-linked adrenoleukodystrophy (X-ALD) is a rare genetic condition caused by mutations in the ABCD1 gene that result in accumulation of very long chain fatty acids (VLCFAs) in various tissues. This leads to demyelination in the CNS and impaired steroidogenesis in the adrenal cortex and testes. A 57-year-old gentleman was referred for the assessment of bilateral gynaecomastia of 6 mont...
متن کاملX linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy.
X linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal metabolism, biochemically characterised by accumulation of saturated very long chain fatty acids. Accumulation of these fatty acids is associated with cerebral demyelination, peripheral nerve abnormalities, and adrenocortical and testicular insufficiency. The lowest estimated birth incidence is one per 100,000. At lea...
متن کاملRecurrent Anion Gap Acidosis: An Unusual Presentation of X-Linked Adrenoleukodystrophy in a Five-year-old Male
We are presenting a five-year-old male with recurrent anion gap acidosis. During his last admission, it was detected that he had elevated VLCFA and the evaluation discovered that he had X-linked Adrenooleukodystrophy. He had the Addisonian only phenotype without any clinical or radiographic CNS findings. We were unable to find any other reports of this presentation of ALD. If the work-up of rec...
متن کامل[X linked retinoschisis, unusual presentation: strabismus].
CASE REPORT X linked retinoschisis is a recessively inherited degenerative retinopathy. We report two cases that debuted with an unusual presentation (strabismus) in early childhood (months). Both of them presented with vitreous veils in the retinal periphery. Mutation in the XLRS1 gene was detected in both cases. DISCUSSION X linked retinoschisis is one of the leading causes of macular degen...
متن کاملPathophysiology of X-linked adrenoleukodystrophy☆
Currently the molecular basis for the clinical heterogeneity of X-linked adrenoleukodystrophy (X-ALD) is poorly understood. The genetic bases for all different phenotypic variants of X-ALD are mutations in the gene encoding the peroxisomal ATP-binding cassette (ABC) transporter, ABCD1 (formerly adrenoleukodystrophy protein, ALDP). ABCD1 transports CoA-activated very long-chain fatty acids from ...
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ژورنال
عنوان ژورنال: Endocrinology, Diabetes & Metabolism Case Reports
سال: 2015
ISSN: 2052-0573
DOI: 10.1530/edm-15-0098