Susac syndrome

Classification according to ICD-11
8A45.2Y	Other specified white matter disorders due to vascular abnormality or ischemia
ICD-11 ( WHO version 2019)

The Susac's syndrome is a rare form of cerebral microangiopathy, which is symptomatic of the Triassic encephalopathy , retinal vascular occlusions in the eye and hearing loss shows.

history

Susac syndrome is named after John O. Susac , a US neurologist , who first described it. In 1975 he treated the first patient with the typical symptoms and in 1979 published the first two case reports on the previously unknown syndrome . In 1994 it was named after him.

Frequency and gender distribution

Susac syndrome is rare. Around 500 case studies had been published worldwide by 2020. The number of unreported cases is likely to be higher. Young women between the ages of 20 and 40 are often affected. The gender distribution is around three women for one sick man ( gynecotropy 3.5: 1).

root cause

Susac syndrome is an endotheliopathy, a disease of the endothelium, the cells that line blood vessels - mediated by cytotoxic CD8 T cells, a type of white blood cell (leukocyte). Immature CD8 T cells are activated. They expand clonally and mature into cytotoxic T cells. These collect in the smallest blood vessels ( arterioles ) and release perforin and granzyme B. These proteins solve z. B. in cancer or virus attack, cell death. In Susac syndrome, perforin and granym B destroy the protective blood-brain barrier like crowbars. This opens the door to the central nervous system. The blood-brain barrier formed by endothelial cells prevents toxins from reaching the brain from the blood. The CD8 T cells accumulate on the cell wall of the smallest blood vessels in the brain, retina and inner ear. There they attach themselves and destroy the protective endothelial cell layer through perforin and granzyme B. This damages the inner walls of blood and lymph vessels. As with tiny strokes, capillaries clog. Surrounding tissue dies due to insufficient blood flow. Permanent damage remains to the affected organs.

course

Within a few days there are speech or vision disorders, hearing loss and drowsiness, hallucinations, paralysis, numbness or epileptic seizures or even coma. The majority of the disease affects women between the ages of 20 and 40. Susac syndrome often lasts for one to four years in several episodes. This threatens deficits that can cause occupational disability and disability .

Diagnosis

The European Susac Consortium recommends diagnostic criteria based on changes in the brain, eye and ear. The brain must have encephalopathy and typical MRI changes. An examination of the eyes by means of fluorescence angiography and, if necessary, optical coherence tomography is necessary, as symptoms do not always exist. In the ear, hearing loss , tinnitus and disturbance of the equilibrium organ (so-called vestibulopathy) can occur and should be objectified using technical equipment. If two of the organs are affected, Susac syndrome is likely.

Encephalopathy and MRI changes

Susac syndrome: beam defects

Cognitive disorders are changes in thinking that can lead to psychosis . There is often a severe headache that can precede the other symptoms. In the obligatory magnetic resonance tomography there are almost always typical defects in the bar . There one finds changes typically in the area of ​​the central orbits with relative recess of the bar periphery . Other brain areas can be affected.

Retinal vascular occlusions

A fluorescein angiography and / or optical coherence tomography are indispensable in diagnosis. These examinations can detect vascular blockages in the retina of the eyes (retina) in almost all affected patients . Fluorescence angiography can also detect hyperfluorescence. Visual field defects do not always exist , so that these subjective complaints are not part of the diagnostic criteria. However, if a large or central part of the retina is affected, vision can sometimes be severely impaired.

Hearing loss and dizziness

The third typical symptom is hearing loss , often bilateral, but rarely to the point of deafness . If hearing is impaired, the low frequency range is particularly affected. Depending on the extent of the damage, a hearing aid or a cochlear implant may be required. The hearing loss is often accompanied by dizziness and tinnitus .

therapy

Before the cause of the disease was discovered, non-specific treatment was given with high-dose cortisone and other non-specific immunotherapy . Since more details about the cause of the disease have become known, attempts have also been made to treat with more specific immunotherapies . So were z. B. four patients successfully treated with the monoclonal antibody natalizumab .

literature

• Sascha Groh: One of Three Hundred - My Life with Susac Syndrome. ISBN 978-3-7504-5940-3 .

Web links

• European Susac Consortium EuSac [1]
• Susac's Syndrome (English)

Individual evidence

1. ↑ Dörr J, Ringelstein M, Krämer M, Kleffner I: The Susac syndrome: a rare but important interdisciplinary differential diagnosis . In: DGNeurologie Journal of the German Society for Neurology . 1, No. 2, September 2018. doi : 10.1007 / s42451-018-0023-5 .
2. ↑ Susac JO, Hardman J, Selhorst J: Microangiopathy of the brain and retina . In: Neurology . 29, No. 3, 1979, p. 313. doi : 10.1212 / wnl.29.3.313 .
3. ↑ Susac JO: Susac's syndrome: The triad of microangiopathy of the brain and retina with hearing loss in young women . In: Neurology . 44, 1994, pp. 591-593. doi : 10.1212 / WNL.44.4.591 .
4. ^ Kleffner I, Dörr J, Ringelstein M for the European Susac Consortium (EuSaC): Diagnostic criteria for Susac syndrome . In: Journal of Neurology, Neurosurgery & Psychiatry . 87, No. 12, 2016, pp. 1287-1295. doi : 10.1136 / jnnp-2016-314295 .
5. ↑ Susac JO, Murtagh FR, Egan RA, Berger JR, Bakshi R, Lincoff N, Gean AD, Galetta SL, Fox RJ, Costello FE, Lee AG, Clark J, Layzer RB, Daroff RB: MRI findings in Susac's syndrome . In: Neurology . 61, No. 12, December 2003, pp. 1783-1787. doi : 10.1212 / 01.WNL.0000103880.29693.48 .
6. ↑ Gross CC, Meyer C, Bhatia U, Yshii L, Kleffner I, Bauer J, Tröscher AR, Schulte-Mecklenbeck A, Herich S, Schneider-Hohendorf T, Plate H, Kuhlmann T, Schwaninger M, Brück W, Pawlitzki M, Laplaud DA, Loussouarn D, Parratt J, Barnett M, Buckland ME, Hardy TA, Reddel SW, Ringelstein M, Dörr J, Wildemann B, Kraemer M, Lassmann H, Höftberger R, Beltrán E, Dornmair K, Schwab N, Klotz L. , Meuth SG, Martin-Blondel G, Wiendl H, Liblau R: CD8 + T cell-mediated endotheliopathy is a targetable mechanism of neuro-inflammation in Susac syndrome . In: Nature Commun. 10 (1): 5779 . December 2019. doi : 10.1038 / s41467-019-13593-5 .

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