SUSAC's Syndrome (SS) is characterized by the clinical triad of encephalopathy, hearing loss, and retinal artery branch occlusions. Since the first description of SS in 1979, hundreds of patients with SS, mostly young women, have been reported. However, comprehensive epidemiological, clinical and etiological features of SS have never been specifically addressed so far.
Susac's Syndrome (SS) is characterized by the clinical triad of encephalopathy, hearing loss, and retinal artery branch occlusions. Since the first description of SS in 1979, hundreds of patients with SS, mostly young women, have been reported. However, comprehensive epidemiological, clinical and etiological features of SS have never been specifically addressed so far. The diagnosis of SS is difficult because its characteristic signs often do not occur simultaneously or may be too subtle for the patient to notice. Neurological features of SS may occur several months prior to other symptoms. The retinal artery branch occlusion, by occurring in the peripheral portion of the retina, may remain asymptomatic. Sensorineural hearing loss may also be asymptomatic and disclosed only by audiogram. Besides mild pleocytosis in cerebro-spinal fluid, all performed biological tests are virtually negative. No infectious agent, consistent autoimmune marker, or coagulopathy has been disclosed. Changes seen on brain MRI are well characterized although not specific. The only site from which biopsy material is available for pathological analysis is the brain. The most common finding in brain biopsies is the presence of microinfarcts but brain biopsy is not currently performed. Although the treatment of SS has not been studied in controlled trials, most patients have a good response to treatment with glucocorticoids, with the addition of antithrobomtic therapy and, for cases in which the disease is refractory to steroids, intravenous immune globulin or cyclophosphamide. The clinical course is characterized by recurrent attacks involving 1 or more components of the triad that characterize the active phase of the disease. Remission usually occurs after the active phase but some patients show residual mild to moderate dementia or gait disturbance, and impaired hearing and vision. Susac's Syndrome is a vasculopathy causing small infarcts in the cochlea, retina and brain. Proposed explanations include a hypercoagulable state, vasospasm, and vasculitis, none of which are supported by laboratory results or findings on brain biopsies. The unique distribution of arteriolar disease affecting the brain, the retina, and the cochlea suggests selective vulnerability of these three structures. The brain, retina, and cochlea all have a blood-tissue barrier, and the endothelium in these sites shares a common embryologic origin and unique structural and antigenic characteristics. It has therefore been proposed that SS is an autoimmune disease in which the endothelium is the primary target, and damage to the endothelium triggers arteriolar occlusion and microinfarcts. However, the pathogenesis remains unknown. The objective of this study is to characterize the epidemiological, clinical, and etiological features of Susac's Syndrome. In this aim, we will constitute a national clinical-based cohort including all SS new cases prospectively observed. French Society of Neurology, Ophtalmology and Internal Medicine will be asked to collaborate.The exhaustive and systematic analysis of each case will help to better define different aspects of the disease such as the incidence and prevalence, the clinical presentation, the diagnostic modalities and the impact of treatments. Because Susac's syndrome is a rare disease, we expect to include 180 patients in this cohort. The constitution of the cohort will last for 9 years. The conclusion of the study, based on statistical analysis done once all patients will be included in the cohort, should allow new recommendations in the diagnosis strategy and give new understandings of the therapeutic management of the disease. The result of this study may also give rise to hypothesis for an interventional study.
Study Type
OBSERVATIONAL
Enrollment
180
Hôpital Bichat
Paris, France
To characterize the epidemiological Susac's Syndrome
Variables collected at inclusion: Date of birth
Time frame: 9 years
1. To characterize the epidemiological of Susac's Syndrome
Variables collected at inclusion: • Place of birth
Time frame: 9 years
1. To characterize the epidemiological of Susac's Syndrome
• Variables collected at inclusion: Sex
Time frame: 9 years
1. To characterize the epidemiological of Susac's Syndrome
• Variables collected at inclusion : Date of first symptom
Time frame: 9 years
1. To characterize the epidemiological of Susac's Syndrome
• Variables collected at inclusion: Date of diagnosis
Time frame: 9 years
2. To characterize the etiological of Susac's Syndrome
Variables collected at inclusion : • Personal medical history
Time frame: 9 years
2. To characterize the etiological of Susac's Syndrome
Variables collected at inclusion : • Gynaecological history
Time frame: 9 years
2. To characterize the etiological of Susac's Syndrome
Variables collected at inclusion : • Surgical history
Time frame: 9 years
2. To characterize the etiological of Susac's Syndrome
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Variables collected at inclusion : • Family history
Time frame: 9 years
2. To characterize the etiological of Susac's Syndrome
• Variables collected at inclusion : Previous travel and vaccination status
Time frame: 9 years
2. To characterize the etiological of Susac's Syndrome
Variables collected at inclusion : • Any symptoms (flu-like illness, fever)
Time frame: 9 years
2. To characterize the etiological of Susac's Syndrome
Variables collected at each visit : • - Weight in kilograms
Time frame: 9 years
2. To characterize the etiological of Susac's Syndrome
Variables collected at each visit : • - Tobacco consumption
Time frame: 9 years
2. To characterize the etiological of Susac's Syndrome
Variables collected at each visit : • - Use of oestroprogestogenic contraception
Time frame: 9 years
2. To characterize the etiological of Susac's Syndrome
Variables collected at each visit : • - Alcohol consumption
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
1\) Neurology: Neurological symptoms: present / absent / date of onset : Headache
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
Neurology: Neurological symptoms: present / absent / date of onset : • Sensory disturbance
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
Neurology: Neurological symptoms: present / absent / date of onset : • Motor deficit
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
Neurology: Neurological symptoms: present / absent / date of onset : • Osteotendinous pyramidal reflexes
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
Neurology: Neurological symptoms: present / absent / date of onset : • Babinski sign
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
Neurology: Neurological symptoms: present / absent / date of onset : • Hoffman's sign
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
1\) Neurology: Neurological symptoms: present / absent / date of onset : • Tact sensitivity disorder
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
1\) Neurology: Neurological symptoms: present / absent / date of onset : • Thermoal sensitivity deficit
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
1\) Neurology: Neurological symptoms: present / absent / date of onset : Proprioceptive disorder : • If yes, specify : * Ataxia
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
1\) Neurology: Neurological symptoms: present / absent / date of onset : Proprioceptive disorder : • If yes, specify : * Anomaly of the sense of position of the big toe
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
1\) Neurology: Neurological symptoms: present / absent / date of onset : • Paresthesias
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
1\) Neurology: Neurological symptoms: present / absent / date of onset : • Encephalopathy, If yes, specify the signs present: * Confusion
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
1\) Neurology: Neurological symptoms: present / absent / date of onset : • Encephalopathy, If yes, specify the signs present: * Obnubilation
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
1\) Neurology: Neurological symptoms: present / absent / date of onset : • Encephalopathy, If yes, specify the signs present: * Coma
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
1\) Neurology: Neurological symptoms: present / absent / date of onset : • Encephalopathy, If yes, specify the signs present: * Agitation
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
1\) Neurology: Neurological symptoms: present / absent / date of onset : • Encephalopathy, If yes, specify the signs present: * Temporo-spatial disorientation
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
1\) Neurology: Neurological symptoms: present / absent / date of onset : • Encephalopathy, If yes, specify the signs present: * Fluctuating memory disorders
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
• Any sequelae : Results of neurocognitive assessment : BREF
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
Any sequelae : • Results of neurocognitive assessment: MMS
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
Any sequelae : For mood disorders and quality of life: DSMIV criteria for depression
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
Any sequelae : For mood disorders and quality of life: SF36
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
Any sequelae : • For disability : Barthel Index
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
• Any sequelae : For disability : Rankin score
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
Ophthalmology • Ophthalmological examination results : Fundus
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
Ophthalmology • Ophthalmological examination results : Visual field
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
Ophthalmology • Ophthalmological examination results : o Angiography
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
• Ophthalmology Ophthalmological symptoms: scotoma
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
Ophthalmology : Ophthalmological symptoms: decrease in visual acuity
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
Ophtalmology : Evolution of retinal arterial occlusions: improvement
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
Ophthalmology : Evolution of retinal arterial occlusions: stability
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
Ophthalmology : Evolution of retinal arterial occlusions: worsening
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
• Ophthalmology : Sequelae
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
ENT : * Cochlear symptoms: vertigo, tinnitus, ataxia, hearing loss
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
ENT: • Audiogram results
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
ENT • Results of vestibular examinations
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
ENT • Course of deafness: improvement, stability, worsening
Time frame: 9 years
3. To characterize the clinical of Susac's Syndrome
ENT : • Possible sequelae (functional discomfort, psycho-social repercussions, follow-up audiograms)
Time frame: 9 years