Med.Inter.Rev. 2013, 100, 96-99.

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

Christoph Klawe1., Jennifer George1., Annika Broehl1., Matthias Maschke1.

1.Departemento de NeŇ≠rologio kaj NeŇ≠rofiziologio, Malsanulejo de la Karitataj Fratoj, Trier, Germanio


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.
Keywords: Hyper-IgD-syndrome, hereditary periodic fever, bilateral optic neuritis, steroid-responsiveness, chronic inflammatory optic neuritis

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