A 6-year-old boy complained of droopy eyelids and double vision for 2 months. There was no associated fever and headache nor any history of vision loss, developmental delay, or movement disorder. The ptosis improved, but the double vision persisted. Routine brain CT showed no pathological findings. The boy had 2 siblings, none of whom exhibited any similar symptoms. The neuro-ophthalmological examination revealed that the boy was alert and oriented. His best-corrected visual acuity was 20/20 bilaterally. Pupils were round and equal, and both reacted briskly to light. Funduscopic examination showed slight temporal pallor of the bilateral optic disc (Fig. 1A). There was no ptosis, but the horizontal and vertical extraocular motility was dramatically limited (Fig. 1B). A convergence-retraction nystagmus was observed while attempting up-gaze and down-gaze (see video, Supplemental Digital Content, http://links.lww.com/WNO/ A635). Other neurological examinations, including cranial nerves, FIG. 1. A. Fundus photographs showing bilateral optic disc with temporal pallor. B. External photographs of the 9 cardinal gaze positions showing both horizontal and vertical eye movement dysfunction. C. MRI T2-Flair revealing longitudinal dorsal hyperintensity lesions from cerebellar peduncles, pontine, midbrain, up to medial thalamus. D and E. Brain MRI sequence showing the lesions with a reduced signal in T1WI, hyperintensity in T2WI, without enhancement on T1WI after gadolinium; no hemorrhage on SWI, with marginal diffusion restriction on DWI, and the lesions showing a dramatic hyperperfusion on ASL.
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