Abstract
Cerebral metabolic disturbances in patients with childhood adrenoleukodystrophy (ALD)
were assessed by quantitative localized proton MRS. Patient monitoring by follow-up
MRS studies served to identify putative markers for disease onset and progression.
Whereas normal-appearing white matter of neurologically asymptomatic patients is characterized
by slightly elevated concentrations of choline-containing compounds (Cho), an increase
of both Cho and myo-inositol (Ins) seems to indicate the onset of demyelination. Markedly
elevated concentrations of Cho, Ins, and glutamine in affected white matter reflect
active demyelination and glial proliferation. A simultaneous reduction of the concentrations
of N-acetylaspartate and glutamate is consistent with neuronal damage or loss. The
observation of elevated lactate is in line with inflammation and/or macrophage infiltration.
The more severe metabolic disturbances in cerebral ALD correspond to progressive demyelination,
neuroaxonal loss and gliosis leading to clinical deterioration and eventually death.
The detection of MRS abnormalities before the onset of neurological symptoms may help
in the selection of patients for bone marrow transplantation (BMT). Stabilization
and partial reversal of metabolic abnormalities is demonstrated in a patient after
BMT.
Key words
ALD - Proton MRS - Brain metabolites - White matter lesion - Bone marrow transplantation
