Hypoperfusion predicts lesion progression in cerebral X-linked adrenoleukodystrophy.

[adrenomyeloneuropathy]

Magnetic resonance imaging sequences such as diffusion and spectroscopy have been well studied in X-linked adrenoleukodystrophy , but no data exist on magnetic resonance perfusion imaging . Since inflammation is known to modulate the microcirculation , we investigated the hypothesis that changes in the local perfusion might be one of the earliest signs of lesion development . Twenty patients with different phenotypes of adrenoleukodystrophy and seven age-matched controls were evaluated between 2006 and 2011 . Fluid attenuated inversion recovery , post-contrast T (1 )-weighted and normalized dynamic susceptibility contrast magnetic resonance perfusion cerebral blood volume maps were co -registered , segmented when cerebral lesion was present , and normalized cerebral blood volume values were analysed using a Food and Drug Association approved magnetic resonance perfusion software (NordicICE ). Clinical and imaging data were reviewed to determine phenotype and status of progression . All eight patients with cerebral adrenoleukodystrophy had an average 80 % decrease in normalized cerebral blood volume at the core of the lesion (P < 0 .0001 ). Beyond the leading edge of contrast enhancement cerebral perfusion varied , patients with progressive lesions showed an average 60 % decrease in normalized cerebral blood volume (adults P < 0 .05 ; children P < 0 .001 ), while one child with arrested progression normalized cerebral blood volume in this region . In six of seven patients with cerebral adrenoleukodystrophy lesions and follow-up imaging (2 -24 month interval period ), we found progression of contrast enhancement into the formerly hypoperfused perilesional zone . Asymptomatic , adrenomyeloneuropathy and female heterozygote patients had no significant changes in cerebral perfusion . Our data indicate that decreased brain magnetic resonance perfusion precedes leakage of the blood -brain barrier as demonstrated by contrast enhancement in cerebral adrenoleukodystrophy and is an early sign of lesion progression .