Fig. 1

Subjects 1 and 3 display brain, liver, and muscle abnormalities. a Diffusion-weighted (B1000) MRI showing restricted diffusion of the medial occipital cortex and underlying white matter at 6 months of age in subject 1 at the time of initial presentation. b Fluid-attenuated inversion recovery (FLAIR) MRI for subject 1 at 15 months notable for marked cerebral volume loss. c Short tau inversion recovery (STIR) shows symmetric high signal in the posterior compartments of the legs of subject 1 at 12 months of age. Subject 1 has microvesicular steatosis of the liver; light microscopy hematoxylin and eosin (d) and electron microscopy (e). Note the lipid accumulations marked by the arrows in e. f–h Muscle biopsies from control (f), subject 1 (g), and subject 3 (h) were stained with hematoxylin and eosin. Dystrophic features are present in subjects 1 and 3. The size bar denotes 50 μm in d and f–h. The size bar denotes 5 μm in e