Optic nerve and cortical atrophy in a patient with hyper-IgM syndrome

A case of a 7-year-old male with X-linked hyper-IgM syndrome who developed cerebellar cortical atrophy and optic nerve atrophy following a brief febri le illness is discussed. After an episode of gastroenteritis, he experience d cognitive deterioration, progressive ataxia, dysarthria, cerebellar eye s igns, and bilateral optic nerve atrophy that stabilized after seven months. Although we believe that he had direct neural infection, extensive microbi ologic, immunologic, and radiologic investigations failed to identify a def inite etiology to explain his neurologic abnormalities. This is, to our kno wledge, the first reported neuro-ophthalmic disease associated with the hyp er-IgM syndrome.