PMC7184788_01
Colonic histology and brain MRI. a Colonic biopsy showing active inflammation and neuroganglion cell nests in rectal submucosa. HE stain, magnification x40. b Colonic biopsy showing multiple round eosinophilic intracytoplasmic inclusions of megalomitochondria in submucosal ganglionic cells. HE stain, magnification x200. c Axial T2 FSE brain MRI showing hyperintensity within the periventricular white matter anteriorly (blue arrows) but more so posteriorly (orange arrows) with minimal and faint extension to the subcortical areas in both frontal lobes (red arrow). d Axial T2 FLAIR brain MRI showing hyperintensity within the periventricular white matter anteriorly (blue arrows) but more so posteriorly (orange arrows).
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F1
Ganglion cells were seen in the submucosal plexus showing features of intracytoplasmic eosinophilic inclusions consistent with megamitochondria (Fig. 1a, b). T2 FLAIR hyperintensity within the periventricular white matter, more so posteriorly, with minimal faint extension to the subcortical areas in both frontal lobes and in both temporoparietal areas (Fig. 1c, d).