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A 16-month-old white boy born to a mother who had biopsy-proven cutaneous juvenile xanthogranuloma (JXG) at the age of 9 months came in for a consultation with a history of six cutaneous lesions (figure 1A) on the face and the trunk. This was consistent with JXG and was confirmed by a skin biopsy (figure 1B). Owing to a lack of systemic involvement, we decided to not treat the patient at this time. Routine ophthalmologic screening between 16 and 34 months was normal. At 36 months of age, he was referred to the emergency ophthalmologic department because of a sudden bilateral visual loss of 3-day duration. His initial best-corrected visual acuity was “counts fingers in both eyes.” Slit lamp examination was normal, but fundus examination revealed bilateral optic disc swelling. Physical examination revealed hepatomegaly, splenomegaly and persistence of JXG dermatologic lesions, but neither lymph node nor café-au-lait spots were found. Visual evoked potentials to flash stimulation were unrecordable. The photopic flash electroretinograms were normal. A lumbar puncture and magnetic resonance imaging (MRI) were performed (figure 2).
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