Eric J Mallack1,2, Bela R Turk3, Helena Yan1, Carrie Price3, Michelle Demetres1, Ann B Moser3, Catherine Becker2, Kim Hollandsworth3, Laura Adang4, Adeline Vanderver4, Keith Van Haren5, Maura Ruzhnikov5, Joanne Kurtzberg6, Gustavo Maegawa7, Paul J Orchard8, Troy C Lund8, Gerald V Raymond3, Molly Regelmann9, Joseph J Orsini10, Elisa Seeger11, Stephan Kemp12, Florian Eichler2, Ali Fatemi3. 1. Department of Pediatrics, Division of Child Neurology, Weill Cornell Medical College, NewYork-Presbyterian Hospital, New York, New York, USA. 2. Department of Neurology, Harvard Medical School, Massachusetts General Hospital, Boston, Massachusetts, USA. 3. Division of Neurogenetics and The Moser Center for Leukodystrophies, Kennedy Krieger Institute, Johns Hopkins University, Baltimore, Maryland, USA. 4. Division of Neurology, Perelman School of Medicine at the University of Pennsylvania, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. 5. Department of Neurology, Stanford University School of Medicine, Lucile Packard Children's Hospital, Stanford, California, USA. 6. Department of Pediatrics, Duke University School of Medicine, Duke Children's Hospital and Health Center, Durham, North Carolina, USA. 7. 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. 8. Department of Pediatrics, Division of Bone Marrow Transplantation, University of Minnesota Children's Hospital, Minneapolis, Minnesota, USA. 9. Department of Pediatrics, Division of Endocrinology & Diabetes, Children's Hospital at Montefiore, Bronx, New York, USA. 10. Newborn Screening Program, NY State Department of Health, New York, New York, USA. 11. Aidan Jack Seeger Foundation, Brooklyn, New York, USA. 12. Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands.
Abstract
BACKGROUND: 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. METHODS: To establish the most frequent age and diagnostic neuroimaging modality for CCALD, we completed a meta-analysis of relevant studies published between January 1, 1970 and September 10, 2019. We used the consensus development conference method to incorporate the resulting data into guidelines to inform the timing and techniques for neuroimaging surveillance. Final guideline agreement was defined as >80% consensus. RESULTS: One hundred twenty-three studies met inclusion criteria yielding 1285 patients. The overall mean age of CCALD diagnosis is 7.91 years old. The median age of CCALD diagnosis calculated from individual patient data is 7.0 years old (IQR: 6.0-9.5, n = 349). Ninety percent of patients were diagnosed between 3 and 12. Conventional MRI was most frequently reported, comprised most often of T2-weighted and contrast-enhanced T1-weighted MRI. The expert panel achieved 95.7% consensus on the following surveillance parameters: (a) Obtain an MRI between 12 and 18 months old. (b) Obtain a second MRI 1 year after baseline. (c) Between 3 and 12 years old, obtain a contrast-enhanced MRI every 6 months. (d) After 12 years, obtain an annual MRI. CONCLUSION: Boys with adrenoleukodystrophy identified early in life should be monitored with serial brain MRIs during the period of highest risk for conversion to CCALD.
BACKGROUND: 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. METHODS: To establish the most frequent age and diagnostic neuroimaging modality for CCALD, we completed a meta-analysis of relevant studies published between January 1, 1970 and September 10, 2019. We used the consensus development conference method to incorporate the resulting data into guidelines to inform the timing and techniques for neuroimaging surveillance. Final guideline agreement was defined as >80% consensus. RESULTS: One hundred twenty-three studies met inclusion criteria yielding 1285 patients. The overall mean age of CCALD diagnosis is 7.91 years old. The median age of CCALD diagnosis calculated from individual patient data is 7.0 years old (IQR: 6.0-9.5, n = 349). Ninety percent of patients were diagnosed between 3 and 12. Conventional MRI was most frequently reported, comprised most often of T2-weighted and contrast-enhanced T1-weighted MRI. The expert panel achieved 95.7% consensus on the following surveillance parameters: (a) Obtain an MRI between 12 and 18 months old. (b) Obtain a second MRI 1 year after baseline. (c) Between 3 and 12 years old, obtain a contrast-enhanced MRI every 6 months. (d) After 12 years, obtain an annual MRI. CONCLUSION: Boys with adrenoleukodystrophy identified early in life should be monitored with serial brain MRIs during the period of highest risk for conversion to CCALD.
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