Susac syndrome

Susacov sindrom rijetka je bolest koja se sastoji od kliničkog trijasa: encefalopatije, okluzije ogranaka retinalne arterije (BRAO) i senzorineuralnog oštećenja sluha. Posljedica je mikroangiopatije koja zahvaća prekapilarne arteriole mozga, retine i unutarnjeg uha (kohleje i polukružnih kanalića). Patofiziološki radi se o imunološki posredovanoj bolesti. Bolest se najčešće javlja u dobi od 20 - 40 godina i u žena je triput češća nego u muškaraca. Postoje dva oblika bolesti s obzirom na simptome: predominantno encefalopatski oblik i rekurentni oblik u kojem dominiraju vidni simptomi sa ili bez oštećenja sluha. Najčešća manifestacija bolesti je encefalopatija koja se može prezentirati migrenoznim glavoboljama, multifokalnim neurološkim ispadima, psihijatrijskim poremećajima, kognitivnim smetnjama, poremećajem pamćenja, na kraju i demencijom. Bolest najčešće prati jedan od tri klinička tijeka: monociklički, policiklički i kronični kontinuirani. Dijagnoza se postavlja na temelju kliničke slike te parakliničkih pretraga kao što su magnetska rezonanca mozga (MR), fluoresceinska angiografija (FA) retine, fundoskopija i audiometrijsko testiranje. Karakteristični znakovi za Susacov sindrom su „snowball“ lezije korpusa kalozuma vidljive na MR-u mozga, okluzije i propuštanje stijenki ogranaka retinalne arterije na FA-i i senzorineuralni gubitak sluha za niske i srednje frekvencije. Liječenje se temelji na imunosupresiji i imunomodulaciji. S obzirom na rijetku incidenciju bolesti, mnogi kliničari nisu upoznati sa Susacovim sindromom, a ako se tome pridodaju poneke sličnosti sa multiplom sklerozom (MS) ili akutnim diseminiranim encefalomijelitisom (ADEM) ne čudi činjenica da je bolest najčešće zamijenjena i pripisivana upravo ovim dvjema dijagnozama. Susacov sindrom relativno je nova i još uvijek nedovoljno razjašnjena bolest koja može imati ozbiljne i ireverzibilne posljedice, stoga je nužno pravodobno posumnjati, rano dijagnosticirati i ispravno liječiti ovu bolest.Susac syndrome is a rare condition which consists of the clinical triade of encephalopathy, branch retinal artery occlusions (BRAO) and sensorineural hearing loss. It is a result of microangiopathy that affects precapillary arterioles of the brain, retina and inner ear (cochlea, semicircular canals). Pathophysiological mechanism is considered to be immune-mediated. The typical age at disease onset is 20-40 years with female to male ratio 3:1. There are two main clinical subsets of the disease, one with predominant neurological symptoms and the other with recurrent visual disturbances with or without hearing loss. The most common manifestation of the disease is encephalopathy which may present with migrenous headache, multifocal neurological signs, psychiatric disturbances, cognitive changes, memory loss, and finally dementia. There are three major clinical courses: monocyclic, policyclic and chronic–continuous. Diagnosis is established based on clinical features and paraclinical diagnostic procedures such as brain magnetic resonance imaging (MRI), fluorescein angiography (FA) and audiometry. Characteristic signs of Susac sindrome on MRI are „snowball“ lesions of the corpus callosum, occlusions and leakage of arterial wall seen on FA, low and middle-frequency sensorineural hearing loss. Treatment is based on immunosuppression and immunomodulation. Due to the rare occurrence of the disease, many clinicians are not familiar with Susac syndrome, and if some similarities with multiple sclerosis (MS) or acute disseminated encephalomyelitis (ADEM) are added to it, it is not surprising that the disease is most often replaced and attributed to these two diagnoses. Susac syndrome is a relatively new and still poorly understood disease that can have serious and irreversible consequences, so it is necessary to have clinical suspicion, to diagnose and treat this disease in a timely manner