J Pediatr Neurol
DOI: 10.1055/s-0039-1677805
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Rare Spontaneous Attenuation of Childhood Inflammatory Cerebral Adrenoleukodystrophy

Hyoung Won Choi
1  Division of Pediatric Neurology, Department of Neurology, University of Minnesota, Minneapolis, Minnesota, United States
,
Gerald Vincent Raymond
2  Division of Pediatric Neurology, Department of Pediatrics and Neurology, Penn State University, Hershey, Pennsylvania, United States
,
Weston Miller
3  Division of Pediatric Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, United States
› Author Affiliations
Further Information

Publication History

14 November 2018

02 January 2019

Publication Date:
29 January 2019 (eFirst)

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.