No. 100 (2013), Articles
No. 100 (2013)

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

Articles
Published 2013-06-30
Christoph Klawe
Departemento de Neŭrologio kaj Neŭrofiziologio, Malsanulejo de la Karitataj Fratoj, Trier, Germanio
Annika Broehl
Departemento de Neŭrologio kaj Neŭrofiziologio, Malsanulejo de la Karitataj Fratoj, Trier, Germanio
Jennifer George
Departemento de Neŭrologio kaj Neŭrofiziologio, Malsanulejo de la Karitataj Fratoj, Trier, Germanio
Matthias Maschke
Departemento de Neŭrologio kaj Neŭrofiziologio, Malsanulejo de la Karitataj Fratoj, Trier, Germanio
Annika Broehl
Departemento de Neŭrologio kaj Neŭrofiziologio, Malsanulejo de la Karitataj Fratoj, Trier, Germanio
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Keywords

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

How to Cite

1.
Bilateral optic neuropathy responsive to steroids in a patient with hyper-immunoglobulin-d-syndrome. MIR [Internet]. 2013 Jun. 30 [cited 2026 Jan. 20];(100):96-9. Available from: https://interrev.com/mir/index.php/mir/article/view/88
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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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