Department of Neurology, University of Colorado, Denver, CO, USA.
Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
J Neurol. 2021 Mar;268(3):936-940. doi: 10.1007/s00415-020-10225-7. Epub 2020 Sep 29.
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.
We describe a novel arresting-relapsing variant of cALD.
Salient clinical and radiographic studies were reviewed and summarized for cALD patients with episodic deteriorations.
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.
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.
X 连锁肾上腺脑白质营养不良（ALD）是最常见的遗传过氧化物酶体疾病，估计患病率为 1:15000。大约三分之二的 ALD 男性在疾病的某个阶段会表现出炎症性脱髓鞘脑表型（cALD），其中局灶性炎症性病变在数月至数年内进展。造血干细胞移植可以永久性阻止 cALD 的进展，但只有在早期启动时才有效。尽管大多数 cALD 病变持续进展，但一部分可能会自发停止；这些静止病变的后续重新激活尚未详细描述。
我们描述了一种新的 cALD 发作缓解变异型。
回顾并总结了具有发作性恶化的 cALD 患者的显著临床和影像学研究。
我们报告了五例无关联的男性患者，他们的 cALD 病变自发停止，随后在纵向随访中表现出临床和影像学病变进展的迹象。在五例患者中的三例中，复发时功能状态太差，无法进行移植。一名患者经历了再激活，随后又出现了一段自发静止期。
这些病例强调了需要对患有 ALD 的成年男性进行持续的临床和影像学监测，以筛查新的或再激活的 cALD 病变的证据，从而促进及时的治疗评估。
