PMC6390236_01
The patient's enlarged right Achilles tendon (arrow), which indicated xanthoma (A). Funduscopic examination showed mild swelling in the nasal side of the right optic disc (B). Humphrey 30-2 visual field examination revealed a cecocentral scotoma in the right eye (C). OCT of the right eye demonstrated intact thickness of the retinal nerve fiber layer (RNFL) in the macula (D) and increased thickness of the peripapillary RNFL (E). Fluorescein angiography exhibited profuse dye leakage on the right optic disc (B).
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Achilles, patella, and triceps, which indicated xanthoma (Figure 1(A)). A neuroophthalmological examination showed corrected visual acuities of 20/125 in the right eye and 20/30 in the left eye. Funduscopic examination showed mild swelling in the nasal side of the right optic disc (Figure 1(B)); the left eye was normal. Humphrey 30-2 visual field examination showed a cecocentral scotoma in the right eye (Figure 1(C)). Optical coherence tomography (OCT) of the right eye showed intact thickness of the retinal nerve fiber layer (RNFL) in the macula (Figure 1(D)), while the peripapillary RNFL thickness had increased. Fundus fluorescein angiography (FAG) showed mild leakage on the nasal side of the right optic disc (Figure 1(F)).
Brain magnetic resonance imaging revealed the following: bilateral swelling of optic nerves on T1-weighted images (a) with enhancement (arrows) on gadolinium-enhanced T1-weighted (b) and T1 weighted fat-suppressed images (c), enlarged fourth ventricle and cerebellar atrophy (d), and hyperintensities in the bilateral dentate nuclei (arrows, (e)) on T2-weighted images; FLAIR images demonstrated hyperintensities in the bilateral dentate nuclei and pyramidal tract (arrows, (f)).
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Brain magnetic resonance imaging (MRI) revealed bilateral swelling in the optic nerves on T1-weighted images (Figure 2(a)) and enhancement on gadolinium-enhanced T1-weighted and T1-weighted fat-suppressed images (Figures 2(b) and 2(c)), suggesting optic neuritis. Furthermore, T2-weighted images showed an enlarged fourth ventricle, atrophy of the cerebellum, and hyperintensities in the bilateral dentate nuclei (Figures 2(d) and 2(e)); fluid-attenuated inversion recovery images demonstrated hyperintensities in the bilateral dentate nuclei and the pyramidal tract (Figure 2(f)).