TY - JOUR
T1 - Rare Spontaneous Attenuation of Childhood Inflammatory Cerebral Adrenoleukodystrophy
AU - Choi, Hyoung Won
AU - Raymond, Gerald Vincent
AU - Miller, Weston
N1 - Publisher Copyright:
© 2020 by Georg Thieme Verlag KG, Stuttgart New York.
PY - 2020/4/1
Y1 - 2020/4/1
N2 - 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.
AB - 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.
KW - cerebral adrenoleukodystrophy
KW - inflammatory
KW - spontaneous arrest
UR - http://www.scopus.com/inward/record.url?scp=85083095090&partnerID=8YFLogxK
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U2 - 10.1055/s-0039-1677805
DO - 10.1055/s-0039-1677805
M3 - Article
C2 - 32774083
AN - SCOPUS:85083095090
SN - 1304-2580
VL - 18
SP - 106
EP - 109
JO - Journal of Pediatric Neurology
JF - Journal of Pediatric Neurology
IS - 2
ER -