MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines.
Abstract
<h4>Background</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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.<h4>Conclusion</h4>Boys with adrenoleukodystrophy
identified early in life should be monitored with serial brain MRIs during the period
of highest risk for conversion to CCALD.
Type
Journal articleSubject
HumansAdrenoleukodystrophy
Magnetic Resonance Imaging
Neonatal Screening
Child
Child, Preschool
Infant
Infant, Newborn
Male
Consensus Development Conferences as Topic
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https://hdl.handle.net/10161/24557Published Version (Please cite this version)
10.1002/jimd.12356Publication Info
Mallack, Eric J; Turk, Bela R; Yan, Helena; Price, Carrie; Demetres, Michelle; Moser,
Ann B; ... Fatemi, Ali (2021). MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn
screening: Meta-analysis and consensus guidelines. Journal of inherited metabolic disease, 44(3). pp. 728-739. 10.1002/jimd.12356. Retrieved from https://hdl.handle.net/10161/24557.This is constructed from limited available data and may be imprecise. To cite this
article, please review & use the official citation provided by the journal.
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Show full item recordScholars@Duke
Joanne Kurtzberg
Jerome S. Harris Distinguished Professor of Pediatrics
Dr. Kurtzberg is an internationally renowned expert in pediatric hematology/oncology,
pediatric blood and marrow transplantation, umbilical cord blood banking and transplantation,
and novel applications of cord blood and birthing tissues in the emerging fields of
cellular therapies and regenerative medicine. Dr. Kurtzberg serves as the Director
of the Marcus Center for Cellular Cures (MC3), Director of the Pediatric Transplant
and Cellular Therapy Program, Director of the Carolina

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