DrVirgo
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Topics: 1096
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C?
White matter disorder Adrenoleukodystrophy. regression, loss of milestones, optic atrophy
The disease is due to an X-linked inheritance of peroxisomes that cannot properly process long chain fatty acids in the brain.The disease is characteristically seen in males.
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| robin082006
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| kpmle2
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C) Xes of long chain FA's
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| dr_arc
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does sound like adrenoleuko but can it present without any adrenal manifestations. that was one reson why i was thinkng abt abetalipoproteinemias and the consequent vit E def which acan cause similar symptoms, but maternal history and other features seem to point to adrenoleuko, still wondering abt the lack of adrenal insuff features.anyone?
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