Adrenoleukodystrophy- Images
نویسندگان
چکیده
منابع مشابه
Adrenoleukodystrophy: case report.
Adrenoleukodystrophy (ALD) is an X-linked neurodegenerative disorder associated with progressive central demyelination and adrenal insufficiency1. It was first described by Siemerling and Creutzfeldt2 in 1923 as “bronzed sclerosing encephalomyelitis. In 1970, Biaw assigned the now generally used term adrenoleukodystrophy. It is believed to be peroxisomal disease and biochemically characterized ...
متن کاملUnusual brain images of a boy with adolescent cerebral X-linked adrenoleukodystrophy presenting with exhibitionism
RATIONALE The respective involvements of both the thalamus and exhibitionism in cerebral X-linked adrenoleukodystrophy (X-ALD) have not been reported. PATIENT CONCERNS An 11-year-old boy initially presented with exhibitionism and progressive neurobehavioral symptoms. He subsequently developed transient urinary and fecal incontinence, and an unwillingness to eat or communicate. DIAGNOSES We ...
متن کاملAdrenoleukodystrophy: heterogeneity in two brothers.
A man with hypoadrenalism died from a rapidly progressive pseudobulbar palsy, due to adult onset adrenoleukodystrophy. This diagnosis suggested that his brother, with a longstanding spastic paraparesis, suffered from adrenomyeloneuropathy. Both cases were confirmed biochemically. The heterogeneity of expression of this x-linked disorder is described, with the consequent difficulty in diagnosis ...
متن کاملInflammation in X - linked Adrenoleukodystrophy
Project Description: Cells compute by processing external stimuli according to their internal state, abiding to rules that remain poorly understood (Rubens et al., 2016). Cell fate decisions are the key for constructing a multicellular organism. Errors, bias or aberrant delays in making such decisions can lead to neoplasia or in extreme cases, tumorigenesis. Our key question is how cells make d...
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: Indian Journal of Radiology and Imaging
سال: 2005
ISSN: 0971-3026
DOI: 10.4103/0971-3026.29145