Rare Spontaneous Attenuation of Childhood Inflammatory Cerebral Adrenoleukodystrophy

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.

Fig. 1

Brain MRI at the age of 9 years. (A) T2-weighted image shows a symmetric and confluent demyelinating lesion within the parieto-occipital lobes. (B) T1-weighted image post gadolinium administration demonstrates contrast enhancement at the leading edge of demyelinating lesion. MRI, magnetic resonance imaging.

Fig. 2

Brain MRI at the age of 12 years. (A) T2-weighted image shows demyelinating lesion and cerebral volume loss. (B) T1-weighted image post gadolinium administration demonstrates resolution of contrast enhancement.