Bilateral optic neuropathy responsive to steroids in a patient with hyper-immunoglobulin-d-syndrome
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Keywords

Hyper-IgD-syndrome
hereditary periodic fever
bilateral optic neuritis
steroid-responsiveness
chronic inflammatory optic neuritis

How to Cite

1.
Klawe C, Broehl A, George J, Maschke M, Broehl A. Bilateral optic neuropathy responsive to steroids in a patient with hyper-immunoglobulin-d-syndrome. mir [Internet]. 30Jun.2013 [cited 23Jan.2019];(100):96-9. Available from: http://interrev.com/mir/index.php/mir/article/view/88

Abstract

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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