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History: The patient is a four year old white male with a long
history of recurrent pyogenic infections. He also has a history of photophobia
and mild developmental delay. He was in his usual state of health when he
developed fevers and right sided weakness. MRI and CT scans revealed white
matter lesions with enhancement. A brain biopsy revealed a lymphohistiocytic
infiltrate. During this time, EBV titers revealed seroconversion.
Physical Examination: The physical exam revealed a slightly obese
4 year old boy with a light, creamy complexion. He has light blue eyes,
very light blond hair (Figs. A,B), and no evidence of nystagmus. Opthalomologic
exam revealed decreased retinal pigmentation.
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