Contributions
Abstract: P265
Type: Poster
Abstract Category: Clinical aspects of MS - Diagnosis and differential diagnosis
Background: There are no diagnostic criteria that formally recognize limited forms of Susac syndrome (SS), a rare autoimmune endotheliopathy causing micro-infarctions and neurologic dysfunction. Only 13% of cases have the classic triad of SS at disease onset. Although neither part of the classic triad nor present in all patients, corpus callosum (CC) lesions may be pathognomonic for SS if seen. Diagnostic criteria for SS that recognizes early will both enhance clinical care and facilitate research.
Goal: Review 50 most recent reported cases of SS and Propose Diagnostic Criteria.
Methods: PubMed search (April 2016) of "Susac", "Susac syndrome", "Susac´s" and "Susac´s syndrome.” Cases were reviewed for: 1) presenting symptoms, 2 ) whether an MR was done at disease outset and 3) whether CC lesions were reported.
Results: 46 cases were previously unpublished. Previously published cases were not reviewed. Of the newly reported cases, 35 cases had an MR with first symptoms. 30 (86%) of those patients did not have the full triad. 28/35 patients (80%) had CC lesions. Reported lesion characteristics included: T1 hypointense (n=10, 28%), T2 hyperintense (n=19, 54%), Snowball (n=8, 23%), DWI-restricted (n=3, 8%), and Gadolinium-enhancing (n=2, 6%). The time from presenting symptom to next event ranged from one day to 160 weeks (mean 21 weeks, median 4 weeks in 16 cases with specified relapse-free intervals).
Diagnostic Criteria for SS should be based on Core Features (presenting subacutely, either alone or simultaneously):
1. encephalopathy or neuropsychiatric syndrome including but not limited to psychosis, paranoia, delusions, memory loss
2. SNHL (unilateral or bilateral)
3. BRAO or arterial wall hyper-fluorescence with or without visual change
SS can be diagnosed if the full triad of core features is present. SS Limited disease (SSLD) can be diagnosed when 2/3 of the core criteria are present. Probable SS can be entertained when one core feature is accompanied by CC lesions.
In 35 patients with an MR done with first symptoms, 5 had SS, 11 had SSLD and 14 had Probable SS,
2 had isolated BRAO and 3 had isolated NPSE. CC lesions may be a specific biomarker for SS, but more validation is needed. Diagnostic criteria such as the ones proposed above could enable researchers to study patients with earlier forms of the disease.
Disclosure:
Gillian Paton has nothing to disclose.
Katrina McMullen received salary support from Roche and Guthy-Jackson.
TT has received consulting fees from for Genzyme, Roche, Teva and Biogen. TT receives research support from Genzyme, Roche, Chugai and Biogen.
Mollie Carruthers has received consulting fees from AmGen and Roche.
RC is a site PI for studies funded by MedImmune, Seattle Genetics and Guthy Jackson. RC has received speaking fees for unbranded lectures from Biogen, Genzyme, Novartis, and Teva and has received consulting fees from EMD Serono, and Genzyme.
Abstract: P265
Type: Poster
Abstract Category: Clinical aspects of MS - Diagnosis and differential diagnosis
Background: There are no diagnostic criteria that formally recognize limited forms of Susac syndrome (SS), a rare autoimmune endotheliopathy causing micro-infarctions and neurologic dysfunction. Only 13% of cases have the classic triad of SS at disease onset. Although neither part of the classic triad nor present in all patients, corpus callosum (CC) lesions may be pathognomonic for SS if seen. Diagnostic criteria for SS that recognizes early will both enhance clinical care and facilitate research.
Goal: Review 50 most recent reported cases of SS and Propose Diagnostic Criteria.
Methods: PubMed search (April 2016) of "Susac", "Susac syndrome", "Susac´s" and "Susac´s syndrome.” Cases were reviewed for: 1) presenting symptoms, 2 ) whether an MR was done at disease outset and 3) whether CC lesions were reported.
Results: 46 cases were previously unpublished. Previously published cases were not reviewed. Of the newly reported cases, 35 cases had an MR with first symptoms. 30 (86%) of those patients did not have the full triad. 28/35 patients (80%) had CC lesions. Reported lesion characteristics included: T1 hypointense (n=10, 28%), T2 hyperintense (n=19, 54%), Snowball (n=8, 23%), DWI-restricted (n=3, 8%), and Gadolinium-enhancing (n=2, 6%). The time from presenting symptom to next event ranged from one day to 160 weeks (mean 21 weeks, median 4 weeks in 16 cases with specified relapse-free intervals).
Diagnostic Criteria for SS should be based on Core Features (presenting subacutely, either alone or simultaneously):
1. encephalopathy or neuropsychiatric syndrome including but not limited to psychosis, paranoia, delusions, memory loss
2. SNHL (unilateral or bilateral)
3. BRAO or arterial wall hyper-fluorescence with or without visual change
SS can be diagnosed if the full triad of core features is present. SS Limited disease (SSLD) can be diagnosed when 2/3 of the core criteria are present. Probable SS can be entertained when one core feature is accompanied by CC lesions.
In 35 patients with an MR done with first symptoms, 5 had SS, 11 had SSLD and 14 had Probable SS,
2 had isolated BRAO and 3 had isolated NPSE. CC lesions may be a specific biomarker for SS, but more validation is needed. Diagnostic criteria such as the ones proposed above could enable researchers to study patients with earlier forms of the disease.
Disclosure:
Gillian Paton has nothing to disclose.
Katrina McMullen received salary support from Roche and Guthy-Jackson.
TT has received consulting fees from for Genzyme, Roche, Teva and Biogen. TT receives research support from Genzyme, Roche, Chugai and Biogen.
Mollie Carruthers has received consulting fees from AmGen and Roche.
RC is a site PI for studies funded by MedImmune, Seattle Genetics and Guthy Jackson. RC has received speaking fees for unbranded lectures from Biogen, Genzyme, Novartis, and Teva and has received consulting fees from EMD Serono, and Genzyme.