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Journal of Neuro-ophthalmology : the... Sep 2016Medical research registries (MRR) are organized systems used to collect, store, and analyze patient information. They are important tools for medical research with... (Review)
Review
BACKGROUND
Medical research registries (MRR) are organized systems used to collect, store, and analyze patient information. They are important tools for medical research with particular application to the study of rare diseases, including those seen in neuro-ophthalmic practice.
EVIDENCE ACQUISITION
Evidence for this review was gathered from the writers' experiences creating a comprehensive neuro-ophthalmology registry and review of the literature.
RESULTS
MRR are typically observational and prospective databases of de-identified patient information. The structure is flexible and can accommodate a focus on specific diseases or treatments, surveillance of patient populations, physician quality improvement, or recruitment for future studies. They are particularly useful for the study of rare diseases. They can be integrated into the hierarchy of medical research at many levels provided their construction is well organized and they have several key characteristics including an easily manipulated database, comprehensive information on carefully selected patients, and comply with human subjects regulations. MRR pertinent to neuro-ophthalmology include the University of Illinois at Chicago neuro-ophthalmology registry, Susac Syndrome Registry, Intracranial Hypertension Registry, and larger-scale patient outcome registries being developed by professional societies.
CONCLUSION
MRR have a variety of forms and applications. With careful planning and clear goals, they are flexible and powerful research tools that can support multiple different study designs, and this can provide the potential to advance understanding and care of neuro-ophthalmic diseases.
Topics: Biomedical Research; Databases, Factual; Eye Diseases; Humans; Neurology; Ophthalmology; Registries
PubMed: 27389624
DOI: 10.1097/WNO.0000000000000391 -
Multiple Sclerosis Journal -... 2022Susac Syndrome (SuS) is an autoimmune endotheliopathy impacting the brain, retina and cochlea that can clinically mimic multiple sclerosis (MS).
BACKGROUND
Susac Syndrome (SuS) is an autoimmune endotheliopathy impacting the brain, retina and cochlea that can clinically mimic multiple sclerosis (MS).
OBJECTIVE
To evaluate non-lesional white matter demyelination changes in SuS compared to MS and healthy controls (HC) using quantitative MRI.
METHODS
3T MRI including myelin water imaging and diffusion basis spectrum imaging were acquired for 7 SuS, 10 MS and 10 HC participants. Non-lesional white matter was analyzed in the corpus callosum (CC) and normal appearing white matter (NAWM). Groups were compared using ANCOVA with Tukey correction.
RESULTS
SuS CC myelin water fraction (mean 0.092) was lower than MS(0.11, p = 0.01) and HC(0.11, p = 0.04). Another myelin marker, radial diffusivity, was increased in SuS CC(0.27μm2/ms) compared to HC(0.21μm2/ms, p = 0.008) and MS(0.23μm2/ms, p = 0.05). Fractional anisotropy was lower in SuS CC(0.82) than HC(0.86, p = 0.04). Fiber fraction (reflecting axons) did not differ from HC or MS. In NAWM, radial diffusivity and apparent diffusion coefficient were significantly increased in SuS compared to HC(p < 0.001 for both measures) and MS(p = 0.003, p < 0.001 respectively).
CONCLUSIONS
Our results provided evidence of myelin damage in SuS, particularly in the CC, and more extensive microstructural injury in NAWM, supporting the hypothesis that there are widespread microstructural changes in SuS syndrome including diffuse demyelination.
PubMed: 35186315
DOI: 10.1177/20552173221078834 -
Frontiers in Neurology 2023Susac syndrome (SS) is a rare immune-mediated vasculitis affecting retina, inner ear and brain. Assessment of central nervous system (CNS) involvement is currently based...
BACKGROUND
Susac syndrome (SS) is a rare immune-mediated vasculitis affecting retina, inner ear and brain. Assessment of central nervous system (CNS) involvement is currently based on standard brain magnetic resonance imaging (MRI) sequences. Accuracy of three dimensional (3D)-vessel wall imaging (VWI) was compared to standard sequences and contrast-enhanced-3D T2-fluid attenuated inversion recovery (CE-FLAIR) to assess CNS disease activity in two cases of definite SS.
METHODS
Brain MRI scan and retinal fluorescein angiogram (RFA) were performed at disease onset and at 1, 3, and 6 months after induction therapy start. CE-FLAIR and VWI based on 3D black-blood proton density weighted (PDW) with and without gadolinium were added to standard sequences on a 3 Tesla MRI scanner.
RESULTS
Contrast enhanced-VWI (CE-VWI) detected an abnormal diffuse leptomeningeal enhancement (LME) in both cases at onset and during follow-up. Pathological enhancement on CE-VWI persisted at 6-month brain MRI, despite absence of new lesions and disappearance of LME on CE-FLAIR. Follow-up RFA revealed new arterial wall hyperfluorescence in both cases.
CONCLUSIONS
VWI may represent a useful tool for diagnosing and monitoring CNS disease activity in SS patients, as confirmed by concordance with RFA, leading treatment's choice and timing. Moreover, CE-VWI seemed at least as sensitive as CE-FLAIR in detecting LME, possibly being superior to the latter in posterior fossa. LME remission might be not accurate in predicting suppression of CNS inflammation in SS.
PubMed: 37638191
DOI: 10.3389/fneur.2023.1201643 -
BMJ Case Reports Mar 2022A woman in her late 20s presented with headaches and subacute encephalopathy. MRIs showed multiple punctate subcortical and periventricular white matter hyperintensities...
A woman in her late 20s presented with headaches and subacute encephalopathy. MRIs showed multiple punctate subcortical and periventricular white matter hyperintensities with diffusion restriction, infratentorial lesions, leptomeningeal enhancement of the cervical spinal cord, brainstem and cerebellum and two areas of high-signal abnormality at T4 and T6 raising suspicion for multiple sclerosis or acute disseminated encephalomyelitis.Further studies and evolution of her symptoms during her hospital stay confirmed the clinical triad of encephalopathy, branch retinal artery occlusions and hearing loss pathognomonic for Susac's syndrome.While cervical spinal cord and cauda equina involvement have been reported in Susac's syndrome previously, no thoracic spinal cord involvement has been reported.We report the novel MRI finding of thoracic spinal cord involvement in Susac's syndrome. In order to avoid misdiagnosis, neurologists and neuroradiologists should be aware that any part of the spinal cord can be involved in Susac's syndrome.
Topics: Cauda Equina; Female; Humans; Magnetic Resonance Imaging; Retinal Artery Occlusion; Spinal Cord; Susac Syndrome
PubMed: 35236690
DOI: 10.1136/bcr-2021-247351 -
Croatian Medical Journal Jun 2004Susac syndrome is a rare microangiopathy of cochlea, retina, and brain. We report a case of a 30-year-old man with Susac syndrome. The patient initially suffered from...
Susac syndrome is a rare microangiopathy of cochlea, retina, and brain. We report a case of a 30-year-old man with Susac syndrome. The patient initially suffered from unilateral hearing loss associated with peripheral vestibular syndrome, and followed with recurrent arterial retinal occlusions and encephalopathy. The patient underwent clinical, laboratory, and neuroradiological examination. Laboratory tests were negative for systemic inflammatory or infectious disease. Signs of encephalopathy and vestibular syndrome regressed after 6 weeks, retinal obstructions were partially improved, and deafness remained unchanged. Two unexplained epileptic seizures had been documented 7 years before the development of typical clinical course. The etiology is still unknown and diagnosis was suggested by the clinical triad of bilateral sensorineural hearing loss on low frequency on audiology, recurrent bilateral retinal branch artery occlusions, and small multiple areas of signal hyperintensity in the white and gray matter on brain magnetic resonance T2-weighted images. The clinical course is self-limited and treatment options are not codified. Epileptic seizures, as those in our patient, may extend the clinical spectrum of Susac syndrome. This case also documents the possibility of multiphasic disease course.
Topics: Adult; Brain Diseases; Diagnosis, Differential; Dizziness; Hearing Loss, Sensorineural; Humans; Magnetic Resonance Imaging; Male; Recurrence; Retinal Artery Occlusion; Syndrome; Vertigo
PubMed: 15185430
DOI: No ID Found -
Neurology(R) Neuroimmunology &... May 2024
PubMed: 38593388
DOI: 10.1212/NXI.0000000000200247 -
The Neuroradiology Journal Jun 2019Susac's syndrome is an uncommon autoimmune microangiopathy characterised mainly by encephalopathy, hearing loss and branch retinal artery occlusions. We present here a...
Susac's syndrome is an uncommon autoimmune microangiopathy characterised mainly by encephalopathy, hearing loss and branch retinal artery occlusions. We present here a case of Susac's syndrome with initial isolated arterial stroke symptoms which are not an uncommon feature of the disease.
Topics: Adult; Diagnosis, Differential; Drug Therapy, Combination; Humans; Immunoglobulins, Intravenous; Magnetic Resonance Imaging; Methylprednisolone; Neuroprotective Agents; Stroke; Susac Syndrome
PubMed: 30839238
DOI: 10.1177/1971400919835493 -
Neurological Sciences : Official... Jun 2022A 35-year-old Caucasian woman presented an abrupt onset of bilateral impaired vision, and arrived to our attention two weeks later. She had a previous episode of mild...
A 35-year-old Caucasian woman presented an abrupt onset of bilateral impaired vision, and arrived to our attention two weeks later. She had a previous episode of mild dizziness. She underwent a fluorescein angiography showing branch retinal artery occlusions and a brain magnetic resonance imaging (MRI) revealing several supraand infratentorial FLAIR-hyperintense white matter lesions, two with contrast enhancement. Thrombophilic, autoimmune and infective (including Human Immunodeficiency Virus, Borrelia burgdorferi, Hepatitis B Virus, Hepatitis C Virus, Herpes Simplex Virus 1-2, Varicella Zoster Virus) screening was negative. Cerebrospinal fluid analysis showed intrathecal IgG synthesis. We suspected a Primary Central Nervous System Vasculitis, and intravenous steroids were started. Three months later a second brain MRI showed seven new lesions without contrast enhancement, and she revealed a cognitive impairment and bilateral hearing loss. Reviewing the clinical history and MRI, she fulfilled diagnostic criteria for Susac syndrome. She had two cycles of cyclophosphamide, and recovered in 6 months and then remained stable with metotrexate.
Topics: Adult; Brain; Female; Humans; Magnetic Resonance Imaging; Retinal Artery Occlusion; Susac Syndrome; Vertigo
PubMed: 35006444
DOI: 10.1007/s10072-022-05865-8 -
BMC Neurology Sep 2020Susac syndrome (SuS) is a rare condition characterized by a clinical triad of sensorineural hearing loss, branch artery occlusion and encephalopathy. This study reports...
BACKGROUND
Susac syndrome (SuS) is a rare condition characterized by a clinical triad of sensorineural hearing loss, branch artery occlusion and encephalopathy. This study reports an increased incidence of SuS in Israel. We describe the clinical characteristics of these patients, diagnostic procedures and the use and subsequent outcomes of newly published treatment guidelines.
METHODS
This is a single center retrospective study. Patients who were diagnosed with SuS between July 2017 and August 2018 were enrolled in this study.
RESULTS
Seven patients were diagnosed with SuS according to the diagnostic criteria in a time period of 13 months. The annual incidence was recently evaluated in Austria to be 0.024/100000, therefore, our case series represent at least a 5.4- fold increase in the annual incidence of SuS expected in Israel and a 7-fold increase in the annual incidence expected in our medical center. Mean time from the onset of the symptoms to diagnosis was three weeks and follow-up time was twenty four months. Recent exposure to cytomegalovirus was serologically evident in three patients and one patient had high titer of anti-streptolysin antibody. All patients underwent brain MRI, fluorescein angiography and audiometry. All patients were treated according to the newly recommended guidelines. All patients achieved clinical and radiological stability.
CONCLUSIONS
We report of an increased incidence of SuS in Israel. Infectious serological findings may imply a post infectious mechanism. The use of the recommended diagnostic procedures reduced the time to diagnosis. Newly published treatment guidelines led to favorable clinical outcomes.
Topics: Adult; Brain Diseases; Female; Fluorescein Angiography; Humans; Incidence; Magnetic Resonance Imaging; Male; Radiography; Retrospective Studies; Susac Syndrome; Young Adult
PubMed: 32878610
DOI: 10.1186/s12883-020-01892-0 -
BMC Ophthalmology Sep 2021Susac syndrome (SS) is characterized by the triad of encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss. However, the diagnosis of SS...
BACKGROUND
Susac syndrome (SS) is characterized by the triad of encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss. However, the diagnosis of SS remains difficult because the clinical triad rarely occurs at disease onset, and symptom severity varies. SS symptoms often suggest other diseases, in particular multiple sclerosis (MS), which is more common. Misdiagnosing SS as MS may cause serious complications because MS drugs, such as interferon beta-1a, can worsen the course of SS. This case report confirms previous reports that the use of interferon beta-1a in the course of misdiagnosed MS may lead to exacerbation of SS. Moreover, our case report shows that glatiramer acetate may also exacerbate the course of SS. To the best of our knowledge, this is the first reported case of exacerbation of SS by glatiramer acetate.
CASE PRESENTATION
We present a case report of a patient with a primary diagnosis of MS who developed symptoms of SS during interferon beta-1a treatment for MS; these symptoms were resolved after the discontinuation of the treatment. Upon initiation of glatiramer acetate treatment, the patient developed the full clinical triad of SS. The diagnosis of MS was excluded, and glatiramer acetate therapy was discontinued. The patient's neurological state improved only after the use of a combination of corticosteroids, intravenous immunoglobulins, and azathioprine.
CONCLUSIONS
The coincidence of SS signs and symptoms with treatment for MS, first with interferon beta-1a and then with glatiramer acetate, suggests that these drugs may influence the course of SS. This case report indicates that treatment with glatiramer acetate may modulate or even exacerbate the course of SS.
Topics: Diagnostic Errors; Glatiramer Acetate; Humans; Interferon beta-1a; Interferon-beta; Multiple Sclerosis; Susac Syndrome
PubMed: 34592956
DOI: 10.1186/s12886-021-02101-3