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Published on: October 21, 2014
Rare Spontaneous Attenuation of Childhood Inflammatory Cerebral Adrenoleukodystrophy
Hyoung Won Choi1, Gerald Vincent Raymond2, Weston Miller3
1Division of Pediatric Neurology, Department of Neurology, University of Minnesota, Minneapolis, Minnesota, United States.
Abstract:
X-linked adrenoleukodystrophy (ALD) is a neurodegenerative peroxisomal disorder with variable clinical phenotypes. Childhood cerebral ALD (CCALD) is at the most severe end of the disease spectrum. In CCALD, the clinical manifestations include increasing deficits in behavior, vision, hearing, coordination, and motor function, as well as seizures. Without treatment, CCALD often results in apparent vegetative state within 1 to 2 years of appearance of initial signs and symptoms. We present the case of a boy with classic inflammatory CCALD who exhibited spontaneous attenuation in disease progression. While extremely rare, spontaneous arrest of disease progression may occur in boys with inflammatory CCALD.
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