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MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and
Eric J Mallack1,2, Bela R Turk3, Helena Yan1
1Department of Pediatrics, Division of Child Neurology, Weill Cornell Medical College, NewYork-Presbyterian Hospital, New York, New York, USA.
Insights
Boys with X-linked adrenoleukodystrophy should undergo regular MRI surveillance for early detection of childhood cerebral adrenoleukodystrophy (CCALD). Guidelines recommend serial MRIs from infancy through adolescence to monitor for CCALD development.
Area of Science:
- Neurology
- Pediatrics
- Medical Imaging
Background:
- X-linked adrenoleukodystrophy (X-ALD) can lead to childhood cerebral adrenoleukodystrophy (CCALD) in a subset of affected boys.
- CCALD is a rapidly progressive and often fatal neurological disorder without timely hematopoietic stem cell transplant.
- Current management lacks standardized neuroimaging surveillance guidelines for asymptomatic X-ALD patients at risk for CCALD.
Purpose of the Study:
- To establish evidence-based guidelines for neuroimaging surveillance in boys with neurologically asymptomatic X-ALD.
- To determine the optimal timing and neuroimaging modalities for detecting CCALD.
- To inform clinical practice regarding the monitoring of at-risk pediatric patients.
Main Methods:
- A meta-analysis of relevant studies published between 1970 and 2019 was conducted to identify the age and diagnostic imaging for CCALD.
- The consensus development conference method was employed to integrate meta-analysis data into surveillance guidelines.
- Expert panel consensus exceeding 80% was required for guideline finalization.
Main Results:
- The meta-analysis included 123 studies with 1285 patients, revealing a median age of CCALD diagnosis at 7.0 years (IQR: 6.0-9.5).
- Approximately 90% of patients were diagnosed between 3 and 12 years of age.
- Conventional MRI, primarily T2-weighted and contrast-enhanced T1-weighted sequences, was the most frequent modality. Expert consensus (95.7%) was reached on surveillance parameters, including serial MRIs from 12-18 months, annually thereafter, and every 6 months between 3-12 years.
Conclusions:
- Boys diagnosed with X-ALD require vigilant neuroimaging surveillance.
- Serial brain MRIs are crucial during the highest-risk period for CCALD conversion.
- Established guidelines provide a framework for early detection and management of 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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