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BILATERAL OPTIC NEUROPATHY RESPONSIVE TO STEROIDS IN A PATIENT WITH HYPER-IMMUNOGLOBULIN-D-SYNDROME

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KLAWE C., George J., Broehl A., Maschke M.
Medicina Internacia Revuo
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2013
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vol. 25
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issue 100
96- 98
EN
We present the case of a young woman with hyper-IgD syndrome (HIDS) due to heterozygous V377I and I268T mutations, who developped a bilateral optic neuritis. While the CSF was normal and no NMO-antibodies where detected, she showed signs of systemic inflammation with a raised CRP. The bilateral optic neuritis responded to 5 days of high-dosage corticosteroids in due course. To our knowledge this is until now the first case of such complaints described in a patient with HIDS.
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