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.
Keywords
cerebral adrenoleukodystrophy - inflammatory - spontaneous arrest
