The Rehabilitation of a Susac Syndrome Patient: A Case Report and Clinical Review
Journal Title: Biomedical Journal of Scientific & Technical Research (BJSTR) - Year 2019, Vol 12, Issue 4
Abstract
Susac syndrome is a rare condition involving the brain, retina, and cochlea vasculature causing encephalopathy, visual loss due to retinal branch occlusion, and sensorineural hearing loss. Most evidence support that this disease is an acquired autoimmune disorder. Early diagnosis and aggressive treatment are important to prevent irreversible neurological damage, hearing loss, or vision loss. The objective of this case study and clinical review is to emphasize the recognition of this underdiagnosed syndrome and its treatment. Especially, the adjunct of rehabilitation treatment to pharmacological treatment may promote functional recovery.Susac syndrome was first described in 1975 by Dr. John Susac, a Neurologist then working for the U.S. Army at Walter Reed Army Hospital, who saw two patients within 3 weeks presenting with encephalopathy in the form of paranoid psychosis and personality changes, branch retinal artery occlusions, and hearing loss. He described these findings as “microangiopathy of the brain and retina” as only the precapillary arterioles (<100 um) were affected [1]. It has also been referred to as “RED- M” (Retinopathy, Encephalopathy, Deafness associated Microangiopathy) [2], “SICRET” (Small Infarcts of Cochlear, Retinal and Encephalic Tissues) syndrome, and “Retinocochleocerebral vasculopathy” [3], but the term “Susac Syndrome” has prevailed since his review of the syndrome was published in Neurology in 1994 [4]. Susac syndrome is a rare diagnosis. It is likely misdiagnosed, and therefore underdiagnosed, for three reasons: a) Susac syndrome mimics other diseases, such as Multiple Sclerosis (MS) [5]; b) It is a rare disease with a dearth of cases, and a consequent lack of awareness of this disease; and c) It is difficult to detect due to the varied and often incomplete (“fruste forme”) presentations at disease onset. However, it is important to diagnose Susac syndrome from the myriad of other conditions it mimics, such as Multiple Sclerosis, because proper treatment and rehabilitation can halt disease progression, hasten recovery, and prevent permanent disability. That said, we are unaware of any previous publications addressing the rehabilitation of patients suffering from Susac syndrome to date. The research focus understandably so far has been on grappling with the presentation, pathophysiology, and treatment. Not surprisingly, the rehabilitation of Susac syndrome patient is also difficult, due to the involvement of the brain, vision, and hearing, all important for independent functioning, and due to the paucity of information, particularly in regard to acute and follow-up functionality and rehabilitation, to draw from to help guide recovery.A 51-year-old woman with a past medical history of hypertension, diabetes mellitus type 2, chronic renal disease, Hepatitis C, chronic anemia, retinal detachment OD initially presented with hallucination, personality change for 6 months. Initial MRI of brain showed revealing “T2 hyperintensity lesions in the periventricular white matter representing microinfarctshallmarks of the Susac Syndrome. She received high dose of prednisone treatment resulting in improvement of her hallucination. In November 2013, she presented to an acute care hospital with acute onset left sided numbness, weakness and headache. An MRI brain revealed extensive T2/FLAIR signal hyperintensity throughout the brainstem and cerebellum and interval progression of her periventricular white matter disease, most likely the progression of her Susac syndrome. Her autoimmune workup was negative including negative ANA, anti-double-stranded DNA, ANCA, and UPEP/SPEP. Ophthalmology found total retinal detachment under ultrasound and only light perception OD; very attenuated, sclerotic vessels diffusely; and macular edema OS.
Authors and Affiliations
Rebecca Baczuk, Zhen Chen, Jeet Bhaidasna, Andre Cassell, Carl Cappelletti, Ning Cao
Keywords
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- EP ID EP593798
- DOI 10.26717/BJSTR.2019.12.002287
- Views 145
- Downloads 0
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