MRI surveillance of boys with X‐linked adrenoleukodystrophy identified by newborn screening: Meta‐analysis and consensus guidelines,Journal of Inherited Metabolic Disease

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MRI surveillance of boys with X‐linked adrenoleukodystrophy identified by newborn screening: Meta‐analysis and consensus guidelines
Journal of Inherited Metabolic Disease ( IF 4.2 ) Pub Date : 2020-12-29 , DOI: 10.1002/jimd.12356
Eric J Mallack _{1,

2} , Bela R Turk ₃ , Helena Yan ₁ , Carrie Price ₃ , Michelle Demetres ₁ , Ann B Moser ₃ , Catherine Becker ₂ , Kim Hollandsworth ₃ , Laura Adang ₄ , Adeline Vanderver ₄ , Keith Van Haren ₅ , Maura Ruzhnikov ₅ , Joanne Kurtzberg ₆ , Gustavo Maegawa ₇ , Paul J Orchard ₈ , Troy C Lund ₈ , Gerald V Raymond ₃ , Molly Regelmann ₉ , Joseph J Orsini ₁₀ , Elisa Seeger ₁₁ , Stephan Kemp ₁₂ , Florian Eichler ₂ , Ali Fatemi ₃

Affiliation

Department of Pediatrics, Division of Child Neurology, Weill Cornell Medical College, NewYork-Presbyterian Hospital, New York, New York, USA.
Department of Neurology, Harvard Medical School, Massachusetts General Hospital, Boston, Massachusetts, USA.
Division of Neurogenetics and The Moser Center for Leukodystrophies, Kennedy Krieger Institute, Johns Hopkins University, Baltimore, Maryland, USA.
Division of Neurology, Perelman School of Medicine at the University of Pennsylvania, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Department of Neurology, Stanford University School of Medicine, Lucile Packard Children's Hospital, Stanford, California, USA.
Department of Pediatrics, Duke University School of Medicine, Duke Children's Hospital and Health Center, Durham, North Carolina, USA.
Department of Pediatrics, Division of Genetics and Metabolism, University of Florida College of Medicine, University of Florida Health Shands Children's Hospital, Gainesville, Florida, USA.
Department of Pediatrics, Division of Bone Marrow Transplantation, University of Minnesota Children's Hospital, Minneapolis, Minnesota, USA.
Department of Pediatrics, Division of Endocrinology & Diabetes, Children's Hospital at Montefiore, Bronx, New York, USA.
Newborn Screening Program, NY State Department of Health, New York, New York, USA.
Aidan Jack Seeger Foundation, Brooklyn, New York, USA.
Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands.

Among boys with X‐Linked adrenoleukodystrophy, a subset will develop childhood cerebral adrenoleukodystrophy (CCALD). CCALD is typically lethal without hematopoietic stem cell transplant before or soon after symptom onset. We sought to establish evidence‐based guidelines detailing the neuroimaging surveillance of boys with neurologically asymptomatic adrenoleukodystrophy.

中文翻译：

通过新生儿筛查发现患有 X 连锁肾上腺脑白质营养不良的男孩的 MRI 监测：荟萃分析和共识指南

在患有 X 连锁肾上腺脑白质营养不良的男孩中，有一部分会发展为儿童脑性肾上腺脑白质营养不良 (CCALD)。如果在症状出现之前或症状出现后不久不进行造血干细胞移植，CCALD 通常是致命的。我们试图建立循证指南，详细说明患有神经系统无症状肾上腺脑白质营养不良的男孩的神经影像学监测。

更新日期：2020-12-29

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