Five men with arresting and relapsing cerebral adrenoleukodystrophy
- PDF / 925,126 Bytes
- 5 Pages / 595.276 x 790.866 pts Page_size
- 34 Downloads / 179 Views
ORIGINAL COMMUNICATION
Five men with arresting and relapsing cerebral adrenoleukodystrophy Aaron M. Carlson2 · Irene C. Huffnagel3 · Aad Verrips4 · Marjo S. van der Knaap3 · Marc Engelen3 · Keith Van Haren1 Received: 4 June 2020 / Revised: 9 September 2020 / Accepted: 11 September 2020 © Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract 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. Keywords Demyelinating diseases · ALD (adrenoleukodystrophy) · Peroxisomal disorders · Leukoencephalopathy · Hematopoietic stem-cell transplantation
Introduction X-linked adrenoleukodystrophy (ALD) is the most common genetic peroxisomal disorder (1:15,000) [1]. ALD is caused by mutations in a single gene, ABCD1, which result
* Keith Van Haren [email protected] 1
Department of Pediatric Neurology, Lucille‑Packard Children’s Hospital, Stanford University School of Medicine, Stanford, CA, USA
2
Department of Neurology, University of Colorado, Denver, CO, USA
3
Department of Pediatric Neurology, Emma Children’s Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands
4
Department of Neurology, Canisius-Wilhelmina Hospital, Nijmegen, The Netherlands
in accumulation of very long-chain fatty acids in neuroendocrine and immune tissues. Two-thirds of ALD males will develop an inflammatory, cerebral demyelinating phenotype (cALD) characterized by expanding, contrast-enhancing white matter lesions that share histologic similarities with multiple sclerosis lesions [2]. Most cALD lesions enlarge relentlessly with accompanying disability and death. Hematopoietic stem-cell transplantation (hSCT) ca
Data Loading...
