Provide expert guidelines for the MRI surveillance of boys with Adrenoleukodystrophy (ALD) during childhood.

ALD is an X-linked peroxisomal disorder due to mutations in ABCD1 gene.  35-40% of all affected males will present with progressive childhood cerebral ALD (CCALD).  Hematopoietic stem cell transplantation is most effective in the presymptomatic period of CCALD, prior to onset of neurological symptoms. Newborn screening (NBS) for ALD has provided the opportunity to identify and monitor boys from birth.  However, the timing and frequency of MRI surveillance for conversion to cerebral disease remains unclear.

A national, multi-center work-group of clinicians with expertise in ALD, NBS faculty, and advocacy representatives was assembled to provide informed consensus guidelines based on the currently available evidence.

Surveillance Guidelines: (1) Perform a baseline brain MRI between 12 and 18 months of age. (2) Perform the second MRI 1 year after the baseline. (3) Beginning at age 3, obtain an MRI every 6 months until age 12. (4) Obtain an annual MRI after the age of 12. (5) To limit gadolinium (GAD) exposure and duration of sedation, MRIs should be read in real-time to assess for a cerebral lesion, if a lesion or questionable lesion is seen, then GAD should be applied. GAD should be administered if no real-time reading capability is available in those children requiring sedation. (6)  Strong emphasis should be placed on family education in order to maintain the surveillance schedule, and avoid loss to follow-up.

Boys with ALD identified early in life should be closely monitored with serial brain MRIs during the period of highest risk for conversion to CCALD.