Figure 2

Magnetic resonance imaging of the brain in HIBCH deficiency. (a) Patient 2 at 9 months: axial T2 weighted image (left panel) shows bilateral symmetrical signal hyperintensity within the globi pallidi (arrows) accompanied by signal hyperintensity on diffusion weighted image (middle panel) and low signal on ADC map (right panel) in keeping with restricted diffusion which is beginning to pseudonormalise on ADC map. The features are those of a subacute neurometabolic insult. In addition there is some generalised non-specific lack of cerebral volume with prominence of the cerebral sulci and delay in myelin maturation. (b) Patient 3 at 11 months: axial T2 (far left) shows bilateral symmetrical signal hyperintensity and swelling in the globi pallidi (arrows) with restricted diffusion (diffusion weighted image middle panel, ADC map right panel) consistent with cytotoxic oedema. The imaging pattern is suggestive of an acute neurometabolic insult.