An identical syndrome of cerebral leukoencephalopathy and megalencephaly with infantile onset was discovered in 8 children, including 2 siblings. Neurological findings were initially normal or near normal, despite megalencephaly and magnetic resonance imaging (MRI) evidence of severe white matter affection. Slowly progressive ataxia and spasticity developed, while intellectual functioning was preserved for years after onset of the disorder. MRI characteristics included diffuse abnormality in signal intensity and swelling of the cerebral hemispheral white matter with cyst-like spaces in the frontoparietal and anterior-temporal subcortical areas. MR spectra were relatively mildly abnormal. Screening for inborn errors, especially those that cause either megalencephaly or white matter disease or both was negative. A distinguishing feature of the present disorder is the apparently severe abnormality of the cerebral white matter as demonstrated by MRI, which contrasts with the remarkably slow course of functional deterioration.

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A novel noninvasive magnetic resonance imaging (MRI) method was developed to determine in vivo blood oxygen saturation and its changes during motor cortex activation in small cerebral veins. Specifically, based on susceptibility measurements in the resting states, pial veins were found to have a mean oxygen saturation of Yrest=0.544+/-0.029 averaged over 14 vessels in 5 volunteers. During activation, susceptibility measurements revealed an oxygen saturation change of DeltaYsusc=0.14+/-0.02. Independent evaluation from blood flow velocity measurements yielded a value of DeltaYflow=0.14+/-0.04 for this change. These results validate the blood oxygenation level-dependent (BOLD) model in functional MRI (fMRI).

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