Background and aim: Susac’s syndrome is a rare neurologic disorder mainly affecting young women aged 20- to 40 years. It consists of a clinical triad including encephalopathy, branch retinal artery occlusions and sensorineural hearing loss.
Method: We present a case of Susac’s syndrome with an atypical delay in the development of symptoms.
Results: A 41-years-old woman was admitted to the ED due to acute confusional state. She suffered from sudden bilateral hearing loss and general weakness two days before. Past medical history revealed recurrent retinal artery occlusions in both eyes from 2005 to 2007. Neurological examination revealed a relative afferent pupil defect in right eye and bilateral hearing impairment. She was treated with prednisone and vitamin E without significant improvement. After an extensive investigation including clinical, laboratory and MRI findings including “snowball lesions” in the corpus callosum and periventricular hyperintense lesions, the patient was diagnosed with Susac’s syndrome. She was treated with IV methylprednisolone. Slow and slight improvements were observed.
Conclusion: Susac’s syndrome is often underdiagnosed probably due to its variable clinical presentations. Early recognition is particularly critical for prompt recovery. Patients often present with only part of the triad, and there is multisystem involvement which imitates other more common neurologic disorders such as acute disseminated encephalomyelitis and multiple sclerosis. In our case the patient did not have at initial presentation all the classical features of the disease with the triad of branch retinal artery occlusion, hearing loss and encephalopathy. About 10 years separate the first manifestations of the disease from the appearance of the other symptoms. MRI imaging characteristics specific to the disease allowed us to rule out other clinical disorders and avoid delay in treatment.
