Susac-Syndrom

Abstract

Susac syndrome, named after John Susac, the first to describe this condition, is characterized by the clinical triad of encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss. Although certainly a rare disease, Susac syndrome needs to be considered in the differential diagnosis of a broad variety of diseases. The pathogenesis is not yet clear. Autoimmune processes leading to damage and inflammation-related occlusion of the microvessels in brain, retina, and inner ear are thought to play a causal role. The diagnosis is based primarily on the clinical presentation, the documentation of branch retinal artery occlusion by fluorescence angiography, and characteristic findings on cerebral MRI. Usually, immunosuppressive therapy is required, though controlled therapy trials are missing so far. The intention of this review article is to raise awareness of this disease among neurologists, psychiatrists, ophthalmologists, and ENT specialists as a high number of unreported cases probably exists. Accordingly, the focus is on the clinical presentation and the diagnostic approach.

Susac syndrome: diverse clinical findings and treatment

“…If not suspected of having the syndrome, the diagnosis may be delayed. Once the diagnosis is made, close neurologic, otorhinolaryngologic, and ophthalmologic follow-up examinations are very important (3) since the damage could be irreversible. A specific routine for the management of this disease has not been described and approaches can be didactically divided into two strategies, namely the management of complications and the prevention of recurrences.…”

“…Autoimmune processes leading to the damage and inflammation-related occlusion of the microvessels in the brain, retina, and inner ear may play a causal role (2) . Electroencephalogram, audiometry, fluorescein angiography (FA), and magnetic resonance imaging (MRI) of the brain sensitively detects the lesions (3) . Retinal abnormalities may have different clinical features.…”

Optische Kohärenztomografie in der Neurologie – Methodik und Anwendung in Forschung und Klinik

“…Beim Susac-Syndrom (SuS) handelt es sich um ein sehr seltenes wahrscheinlich immunologisch vermitteltes Krankheitsbild des ZNS, das durch die typische klinische Trias aus Enzephalopathie, retinalen arteriellen Gefäßverschlüssen und Innenohrschwerhörigkeit charakterisiert ist [126][127][128][129][130][131]. Mutmaßlich sind MS-Fehldiagnosen häufig, was aufgrund der fehlenden Wirksamkeit mancher MS-Immunmodulatoren problematisch ist [132].…”

Ultrahigh field MRI in clinical neuroimmunology: a potential contribution to improved diagnostics and personalised disease management

“…Susac syndrome is an orphan disease that was first described by John Susac in 1979 as a clinical triad consisting of loss of vision, hearing loss, and encephalopathy that can present with headache or seizures [ 133 ]. It is considered a small vessel disease causing microinfarctions and damage to the cochlea, retina, and brain [ 133 – 140 ]. Susac syndrome is often a monophasic disease, but relapsing-remitting disease courses were described [ 135 , 141 ].…”