NOVEL: Patient Rare Disease Registry

Calling All Cases of Susac Syndrome!

Stewards:

Robert Egan, MD
Oregon Neurology
19260 SW 65th Ave, Ste 280
Tualatin, OR 97062
eganr8@gmail.com

If you have a case of a patient with hearing loss, vision loss in one or both eyes, and a strange encephalopathy, then you may have a case of Susac Syndrome and we are interested in hearing from you. This is a very rare disease and the only way to learn more about it is to obtain as much information from as many sources as possible.

To submit your case to the NANOS Susac Syndrome Registry, please download the informed consent from our principal investigator’s site and have your patient, his or her next of kin, or power of attorney sign it. We request clinical notes, MRIs, labs and spinal fluid results, audiograms, fundus photos, and fluorescein angiograms if you have them. The more information that you have to submit, the better we will be able to potentially find a pattern that will lead to treatment for this obscure illness.

Instructions for Submitting Cases

  1. Click on the Informed Consent and print it and have your patient sign it. All information will be kept by the principal investigator in a locked space.
  2. Download the Questionnaire for each visit with your patient and fill it out as completely as possible. Leave the FVQ-25, mRankin, and Barthel blank; the investigator will fill these out from the clinical notes sent.
  3. Download the MRI and Hearing scales or send the MRI and Audiograms and the PI will fill these out.
  4. Please send, if possible, clinic notes, MRIs, labs and spinal fluid results, audiograms, fundus photos, and fluorescein angiograms if you have them. The more information that you have to submit, the better we will be able to potentially find a pattern that will lead to treatment for this obscure illness.
  5. Also send the Informed Consent and filled out Questionnaire
  6. Questions? Contact the PI at eganr8@gmail.com

Inclusion Criteria:

  1. Age 10 or greater plus…
  2. One of the following clinical criteria: retinal artery occlusion, encephalopathy or stroke-like event, or low frequency hearing loss, with…
  3. MRI evidence of one of the following: callosal lesions, or deep grey lesions, or leptomeningeal enhancement.
  4. Recurrent branch retinal artery occlusion patients can be enrolled without abnormal neuroimaging.

Exclusion Criteria:

  1. Any clinical presentation not consistent with definite or probable SS.
  2. Aged 9 year or lower.