A 25-year-old woman was referred to our service to confirm the presence of Susac syndrome due to bilateral visual loss.
The patient had a history of balance disorders, ataxia, fecal and urinary incontinence, and left-sided hearing loss for four years, and was receiving corticosteroids, corticosteroid withdrawal and anticoagulants.
Neurological examination revealed spastic paraparesis, tendon hyperreflexia and genitourinary dysfunction.
Blood tests including blood count, general biochemistry, erythrocyte sedimentation rate, angiotensin-converting enzyme and coagulation were normal.
Serum levels of loos, human immunodeficiency virus, herpes simplex, hepatitis B and C, C-reactive protein, rheumatoid factor, lupus anticoagulant, antinuclear antibodies, anticardiolipin, and antiphospholipid were negative.
Chest radiography, electrocardiogram, echocardiography and cranial computed tomography showed no abnormalities.
Cerebrospinal fluid (CSF) was clear in appearance and with normal opening pressure, with slight increase of proteins, and rest of normal formula.
The serology in CSF for borrelia, Epstein - cytomegalovirus and louis virus, besides the usual cultures were negative.
The detection of oligoclonal bands in the same was also negative.
Brain Magnetic Resonance Imaging (MRI) revealed multiple focal areas of hyperintensity in the periventricular and pericallosal white matter, and in the semioval center regions.
Standard audiometric tests revealed asymmetric sensorineural hearing loss, predominantly left, for low frequencies.
His visual acuity was 20/25 in both eyes.
Goldmann (Streit-Streit, Berna, Switzerland) campimetry showed a bitemporal inferior quadrantanopsia.
No remarkable findings were observed in the anterior segment biomycosis.
Funduscopic examination revealed a peripheral microangiopathy, which revealed amputation of vessels with multiple microaneurysms in both eyes.
No signs of inflammation or cells were observed in the vitreous, nor signs of vesicle invasion.
Fluorescein angiography (FFA) showed signs of ischemia in the areas corresponding to the occlusions arteriovenous.
The diagnosis of Susac syndrome was based on the association of encephalopathy with typical MRI findings, microangiopathy, and sensorineural hearing loss.
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Due to the evident peripheral ischemia seen in FGA, laser photocoagulation was performed in the ischemic areas prophylactically, keeping the visual picture stable since then.
After two years there have been no significant variations in both neurological and auditory status.
