Five men with arresting and relapsing cerebral adrenoleukodystrophy

• Published in: Journal of neurology Vol. 268; no. 3; pp. 936 - 940
• Main Authors: Carlson, Aaron M., Huffnagel, Irene C., Verrips, Aad, van der Knaap, Marjo S., Engelen, Marc, Van Haren, Keith
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.03.2021; Springer Nature B.V
• Subjects: Adrenoleukodystrophy; Adrenoleukodystrophy - genetics; Adrenoleukodystrophy - therapy; Adult; Arrests; Demyelination; Hematopoietic Stem Cell Transplantation; Humans; Inflammation; Lesions; Male; Medicine; Medicine & Public Health; Neurology; Neuroradiology; Neurosciences; Original Communication; Patients; Phenotype; Phenotypes; Recurrence; Stem cell transplantation; Transplants & implants; Vigilance; Demyelinating diseases; ALD (adrenoleukodystrophy); Leukoencephalopathy; Peroxisomal disorders; Hematopoietic stem-cell transplantation
• ISSN: 0340-5354; 1432-1459
• DOI: 10.1007/s00415-020-10225-7

Background X-linked adrenoleukodystrophy (ALD) is the most common genetic peroxisomal disorder with an estimated prevalence of 1:15,000. Approximately two-thirds of males with ALD manifest the inflammatory demyelinating cerebral phenotype (cALD) at some disease stage, in which focal, inflammatory lesions progress over months to years. Hematopoietic stem-cell transplantation can permanently halt cALD progression, but it is only effective if initiated early. Although most cALD lesions progress relentlessly, a subset may spontaneously arrest; subsequent reactivation of these arrested lesions has not been previously detailed. Objective We describe a novel arresting-relapsing variant of cALD. Methods Salient clinical and radiographic studies were reviewed and summarized for cALD patients with episodic deteriorations. Results We report a series of five unrelated men with spontaneously arrested cALD lesions that subsequently manifested signs of clinical and radiologic lesion progression during longitudinal follow-up. In three of five patients, functional status was too poor to attempt transplant by the time the recurrence was identified. One patient experienced reactivation followed by another period of spontaneous arrest. Conclusions These cases emphasize the need for continued clinical and radiologic vigilance for adult men with ALD to screen for evidence of new or reactivated cALD lesions to facilitate prompt treatment evaluation.