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MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy

Afonso P Liberato1, Eric J Mallack1, Razina Aziz-Bose1

  • 1From the Department of Radiology, Division of Neuroradiology (A.P.L., P.A.C.), Department of Neurology (E.J.M., R.A.-B., A.L., P.L.M., F.S.E.), and Department of Biostatistics (D.H.), Harvard Medical School, Massachusetts General Hospital, Boston; and Department of Pediatrics, Division of Child Neurology (E.J.M.), Weill Cornell Medical College, New York-Presbyterian Hospital, New York.

Neurology
|March 24, 2019
PubMed
Abstract

Insights

Brain MRI in asymptomatic childhood cerebral adrenoleukodystrophy (CCALD) shows lesions in 60% of boys. Lesion growth is faster in younger patients and slows with age, highlighting the need for early diagnosis and treatment.

Area of Science:

  • Neurology
  • Pediatric Radiology
  • Genetic Disorders

Background:

  • Childhood cerebral adrenoleukodystrophy (CCALD) is a rare genetic disorder affecting the brain's white matter.
  • Early detection and understanding of CCALD progression are critical for effective management.
  • Brain MRI is a key diagnostic tool for assessing disease severity and progression.

Purpose of the Study:

  • To characterize brain MRI findings in asymptomatic boys with CCALD.
  • To describe the development and progression patterns of brain lesions in this cohort.
  • To identify factors influencing lesion growth rate.

Main Methods:

  • Retrospective review of 219 brain MRIs from 47 asymptomatic boys with confirmed CCALD (2001-2015).
  • Analysis of lesion characteristics including contrast enhancement, volume, and Loes score.
  • Estimation of lesion growth rate using a linear mixed effect model.

Main Results:

  • Brain lesions were present in 60% of asymptomatic boys (median Loes score 3.0).
  • Contrast enhancement was observed in 79% of patients with lesions.
  • Fifty percent of patients showed lesion progression; growth rate was inversely correlated with age and faster in early-stage lesions (splenium, genu of corpus callosum, brainstem).

Conclusions:

  • This study describes CCALD lesion development in asymptomatic boys, revealing significant findings even before symptom onset.
  • Understanding early lesion patterns is vital for optimizing treatment strategies in children identified through newborn screening.
  • The findings underscore the importance of serial MRI monitoring for assessing disease activity and guiding therapeutic interventions.

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