2. Introduction
Encepalopathy
Hearing lossBRAOs
Kleffner, I., Duning, T., Lohmann, H., Deppe, M., Basel, T., Promesberger, J., ... & Ringelstein, E. B. (2012). A brief review of Susac syndrome. Journal of the neurological
sciences, 322(1-2), 35-40
3. Introduction
• Autoimmune-mediated microangiopathy
• First described by John O. Susac in 1979
• The female/male ratio is 3:1.
• SS principally affects women aged 20–40 years
but cases have been reported in patients aged 7–
70 years
• The true incidence is unknown: there are 304
reported cases worldwide
Susac, J. O., Egan, R. A., Rennebohm, R. M., & Lubow, M. (2007). Susac's syndrome: 1975–2005 microangiopathy/autoimmune endotheliopathy. Journal of the neurological
sciences, 257(1-2), 270-272.
Kleffner, I., Duning, T., Lohmann, H., Deppe, M., Basel, T., Promesberger, J., ... & Ringelstein, E. B. (2012). A brief review of Susac syndrome. Journal of the neurological
sciences, 322(1-2), 35-40
García-Carrasco, M., Jiménez-Hernández, C., Jiménez-Hernández, M., Voorduin-Ramos, S., Mendoza-Pinto, C., Ramos-Alvarez, G., ... & Cervera, R. (2011). Susac's syndrome: an
update. Autoimmunity Reviews, 10(9), 548-552.
Dörr, J., Krautwald, S., Wildemann, B., Jarius, S., Ringelstein, M., Duning, T., ... & Kleffner, I. (2013). Characteristics of Susac syndrome: a review of all reported cases. Nature
Reviews Neurology, 9(6), 307.
4. Cerebral Manifestations
• Headache
• Psychiatric disturbances
• Cognitive changes
• Seizures
• Memory loss
• Long tract signs
• Cranial nerve affectation
• Dysarthria
• Dementia
Susac, J. O., Egan, R. A., Rennebohm, R. M., & Lubow, M. (2007). Susac's syndrome: 1975–2005 microangiopathy/autoimmune endotheliopathy. Journal of the neurological
sciences, 257(1-2), 270-272.
Adelpoor, M., Farahvash, M. S., Fard, M. A., Nikdel, M., & Kiarudi, M. Y. (2011). Susac's syndrome in a 27-year-old female. Middle East African journal of ophthalmology, 18(4),
320.
5. Ocular Involvement (BRAOs)
Best evaluated using fluorescein angiography (FA)
• Branch retinal artery occlusions (BRAO) 100%.
• Arteriolar wall hyperfluorescence (Gass
plaques).
• Presence of “leakage”.
• Absence of intraocular inflammation associated
with occlusion of retinal arterioles and normal
choroidal circulation.
García-Carrasco, M., Mendoza-Pinto, C., & Cervera, R. (2014). Diagnosis and classification of Susac syndrome. Autoimmunity reviews, 13(4-5), 347-350.
6. García-Carrasco, M., Mendoza-Pinto, C., & Cervera, R. (2014). Diagnosis and classification of Susac syndrome. Autoimmunity reviews, 13(4-5), 347-350.
7. Rennebohm, R. M., Asdaghi, N., Srivastava, S., & Gertner, E. (2018). Guidelines for treatment of Susac syndrome–An update. International Journal of Stroke, 1747493017751737
8. Laboratory Findings
• Blood:
- Elevated acute phase reactants
- Mild elevations of antinuclear and
antiphospholipid antibodies
- Elevated factor VIII and von Willebrand factor
antigen levels sign of endotheliopathy
• CSF:
- Lymphocytic pleocytosis
- Elevated protein
- Elevated myelin basic protein
Rennebohm, R. M., Lubow, M., Rusin, J., Martin, L., Grzybowski, D. M., & Susac, J. O. (2008). Aggressive immunosuppressive treatment of Susac's syndrome in an adolescent:
using treatment of dermatomyositis as a model. Pediatric Rheumatology, 6(1), 3.
Susac, J. O., Egan, R. A., Rennebohm, R. M., & Lubow, M. (2007). Susac's syndrome: 1975–2005 microangiopathy/autoimmune endotheliopathy. Journal of the neurological
sciences, 257(1-2), 270-272.
9. Histopathology
• Brain:
- Inflammation
- Microinfarcts
- Vasculopathy
- Endothelial changes
• Muscle:
- Periarteriolar infiltrate and swollen endothel
- Microvascular endotheliopathy
Susac, J. O., Egan, R. A., Rennebohm, R. M., & Lubow, M. (2007). Susac's syndrome: 1975–2005 microangiopathy/autoimmune endotheliopathy. Journal of the neurological
sciences, 257(1-2), 270-272.
García-Carrasco, M., Jiménez-Hernández, C., Jiménez-Hernández, M., Voorduin-Ramos, S., Mendoza-Pinto, C., Ramos-Alvarez, G., ... & Cervera, R. (2011). Susac's syndrome: an
update. Autoimmunity Reviews, 10(9), 548-552.
Petty, G. W., Engel, A. G., Younge, B. R., Duffy, J., Yanagihara, T., Lucchinetti, C. F., ... & Rodriguez, M. (1998). Retinocochleocerebral vasculopathy. Medicine, 77(1), 12-40.
10. Rennebohm, R. M., Asdaghi, N., Srivastava, S., & Gertner, E. (2018). Guidelines for treatment of Susac syndrome–An update. International Journal of Stroke, 1747493017751737
11. Rennebohm, R. M., Asdaghi, N., Srivastava, S., & Gertner, E. (2018). Guidelines for treatment of Susac syndrome–An update. International Journal of Stroke, 1747493017751737
12. Rennebohm, R. M., Asdaghi, N., Srivastava, S., & Gertner, E. (2018). Guidelines for treatment of Susac syndrome–An update. International Journal of Stroke, 1747493017751737
13.
14. Prognosis
• The clinical course in SS may be monocyclic,
polycyclic or chronic continuous
• Good prognosis with early treatment
• 50 % cognitive impairment
García-Carrasco, M., Mendoza-Pinto, C., & Cervera, R. (2014). Diagnosis and classification of Susac syndrome. Autoimmunity reviews, 13(4-5), 347-350.
