PMC6358571_01
Pretreatment histological and radiological findings of the initial lower gastrointestinal (GI) biopsies revealed normal terminal ileum (not shown) and patchy moderate chronic active colitis with granulomas showing (A) ascending colon with moderate chronic active colitis with granuloma and (B) rectum with erosion and granuloma (hematoxylin and eosin stained). (C) Axial magnetic resonance imaging (MRI) T2WI and (D) fluid-attenuated inversion recovery (FLAIR) images show bilateral symmetrical hyperintense signal in the periventricular, deep, and subcortical white matter with sparing of the corpus callosum and internal capsule.
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F2
Subsequent histological examination of the lower GI biopsies revealed normal ileal mucosa and moderately active chronic colitis, with patchy granulomatous inflammation in the cecum and ascending, transverse, and descending colon (Figure 2). Magnetic resonance imaging (MRI) of the brain showed diffusely abnormal white-matter signal extending to involve the U-fibers (Figure 2).
Post-treatment histological and radiological findings of the lower GI biopsies after homocystinuria therapy revealed significant improvement. Focal chronic active inflammation with foreign body giant cell reaction in the colon is noted. Normal mucosa is seen in (A) the terminal ileum and (B) the ascending colon (hematoxylin and eosin stained). (C) Axial MRI T2WI and (D) FLAIR images show the progression of the bilateral, symmetrical, hyperintense signal involving the white matter, corpus callosum, internal capsule, external capsule, and extreme capsule. Hypointense signal is noted in the ventral part of the thalami.
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F3
A third colonoscopy showed significant improvement of her pancolitis, and succeeding colonic biopsies showed normal ileal mucosa and mild active chronic colitis (Figure 3). Repeat brain MRI 1 year later showed interval worsening of bilateral, symmetrical, and diffusely abnormal white-matter signal intensity involving the U-fibers, deep white matter, internal capsule, and spinothalamic tract (Figure 3).