CINCA-Syndrome – A rare cause of unilateral papilledema and loss of vision

A unilateral vision loss with papilledema is seldom seen during childhood. Possible causes are an optic neuritis, a cns-tumor in the orbital region or a vasculitis. A 12 year old boy with unilateral vision loss and unimpaired consciousness is referred to us from the rheumatological department Suffering under a CINCA-Syndrome (chronic infantile neurologic, cutaneous, articular syndrome) with deafness, growth and mental retardation he is currently treated with Methotrexate. A visual response could only be elicited to light perception in the left temporal visual field. There were no signs of an increased CSF opening-pressure or a systemic or cns-infection. Left VEPs could not elicited, MRI showed an optic nerve sheath process with a signal disturbance leading up to the chiasma. Intravenous methylprednisolone for five days and salicylic acid lead to a partial improvement of the reduced visual acuity (visus: 0.2) and a modest enlargement of the visual field. CINCA-Syndrome is a autoinflammatory disease beginning in the neonatal period. It is characterised by cutaneous symptoms, recurrent fever and a chronic joint manifestation. Within the cns papilledema, optic neuritis, meningitis and sensorineural deafness can occur. Bouts of repeated autoinflammartory attacks with vasculitis can lead to permanent cns-lesions. Heterozygous missense mutations in exon 3 of the CIAS1 gene coding for Cryopyrin protein have been associated with CINCA Syndrome leading to a decreased apotosis of inflammatory cell and an upregulation of interleukin 1. Recurrent fever episodes, a broad organ specific symptomatology and confirmed mutation in CIAS1-Gene are the basis for the definition of CINCA-Syndrome. Faced with a unilateral vision loss as part of a rheumatological disease such as a CINCA-Syndrome Anakinra (Interleukin 1- receptor antagonist) should be considered as a potential neuroprotective remedy.