Susac Syndrome
Retinal Artery Occlusion
Retinal Vasculitis
Hearing Loss, Sensorineural
Brain Diseases
Retinal Vein Occlusion
Vascular Endothelial Growth Factor A
Intravitreal Injections
Macular Edema
Ophthalmology
Retinal Vein
Cytokines
Retinal and optic nerve head pathology in Susac's syndrome. (1/12)
(+info)Severe retention hyperkeratosis occurring with Susac syndrome. (2/12)
A 50-year-old woman presented for asymptomatic yellow hyperkeratotic plaques limited to her face. The plaques reportedly arose over the six months prior to her clinic visit. She was healthy prior to the diagnosis of Susac syndrome (retinocochleocerebral vasculopathy) two years before. A punch biopsy was performed and revealed retention hyperkeratosis. Retention hyperkeratosis is a benign and commonly seen skin condition in primary care and dermatology. Retention hyperkeratosis occurs when there is abnormality of routine desquamation that can be associated with poor hygeine. It can be associated with acne or ichthyosis. Our case of retention hyperkeratosis is unique because of the profound presentation in a setting of an untreated psychiatric condition. Treatment consisted of daily topical exfoliative care. We also encouraged her family members to help her to seek medical attention for Susac syndrome. (+info)Letter: It is Dermatosis neglecta. (3/12)
The case presented in the article "Severe retention hyperkeratosis occurring with Susac syndrome" in October 2010 of DOJ (16:10) is very dramatic. Although it was implied in the article, the authors did not state that this is actually Dermatosis neglecta, the same entity reported by Poskitt et al 15 years ago. The description of the case in the article, histopathology, mechanism of pathogenesis, and treatment are consistent with Dermatosis neglecta, only with a different name. (+info)Temporal bone findings in a case of Susac's syndrome. (4/12)
(+info)Recurrent bilateral branch retinal artery occlusion with hearing loss and encephalopathy: the first case report of Susac syndrome in Korea. (5/12)
(+info)Susac syndrome: an organ-specific autoimmune endotheliopathy syndrome associated with anti-endothelial cell antibodies. (6/12)
(+info)Patterns of retinal damage facilitate differential diagnosis between Susac syndrome and MS. (7/12)
(+info)Susac's Syndrome: A Case Presentation and Radiological Approach to this Rare Autoimmune Endotheliopathy. (8/12)
Susac's syndrome is an uncommon neurologic disorder, consisting of the clinical triad of encephalopathy, branch retinal artery occlusions, and hearing loss. We report a case of a sudden vision and hearing impairment in a 35-year-old female patient. Magnetic resonance imaging of the brain revealed multiple lesions in the white matter and the corpus callosum, typical of Susac's syndrome. (+info)Susac syndrome, also known as retinocochleocerebral vasculopathy, is a rare autoimmune disorder characterized by the inflammation and damage to small blood vessels in the brain, retina, and inner ear. It primarily affects young adults, particularly women, and can lead to various neurological, auditory, and visual symptoms.
The medical definition of Susac syndrome includes:
1. Encephalopathy (brain dysfunction) - This is characterized by headaches, cognitive impairment, behavioral changes, seizures, or psychiatric symptoms due to inflammation in the brain.
2. Branch retinal artery occlusions (BRAO) - These are blockages of small blood vessels in the retina, leading to visual disturbances such as blurry vision, scotomas (blind spots), or even permanent vision loss.
3. Sensorineural hearing loss - This is caused by damage to the inner ear structures responsible for hearing, resulting in difficulties with hearing, tinnitus (ringing in the ears), or vertigo (dizziness).
The triad of these symptoms is necessary for a definitive diagnosis of Susac syndrome. However, not all patients may present with all three components simultaneously. The presence of any two features should raise suspicion for this condition, and further diagnostic workup is required to confirm the diagnosis. Early recognition and treatment are crucial to prevent long-term complications and improve outcomes in patients with Susac syndrome.
Retinal artery occlusion (RAO) is a medical condition characterized by the blockage or obstruction of the retinal artery, which supplies oxygenated blood to the retina. This blockage typically occurs due to embolism (a small clot or debris that travels to the retinal artery), thrombosis (blood clot formation in the artery), or vasculitis (inflammation of the blood vessels).
There are two types of retinal artery occlusions:
1. Central Retinal Artery Occlusion (CRAO): This type occurs when the main retinal artery is obstructed, affecting the entire inner layer of the retina. It can lead to severe and sudden vision loss in the affected eye.
2. Branch Retinal Artery Occlusion (BRAO): This type affects a branch of the retinal artery, causing visual field loss in the corresponding area. Although it is less severe than CRAO, it can still result in noticeable vision impairment.
Immediate medical attention is crucial for both types of RAO to improve the chances of recovery and minimize potential damage to the eye and vision. Treatment options may include medications, laser therapy, or surgery, depending on the underlying cause and the severity of the condition.
Retinal vasculitis is a medical condition characterized by inflammation of the blood vessels in the retina, which is the light-sensitive tissue located at the back of the eye. This condition can cause damage to the retina and may lead to vision loss if not treated promptly. The inflammation can affect both the small and large blood vessels in the retina and can occur as a result of various systemic diseases or infections, including autoimmune disorders, tuberculosis, syphilis, and toxoplasmosis. In some cases, retinal vasculitis may also be associated with uveitis, which is inflammation of the middle layer of the eye. Treatment typically involves addressing the underlying cause of the inflammation and may include corticosteroids or other immunosuppressive therapies to reduce inflammation and prevent further damage to the retina.
A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.
For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.
It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.
Sensorineural hearing loss (SNHL) is a type of hearing impairment that occurs due to damage to the inner ear (cochlea) or to the nerve pathways from the inner ear to the brain. It can be caused by various factors such as aging, exposure to loud noises, genetics, certain medical conditions (like diabetes and heart disease), and ototoxic medications.
SNHL affects the ability of the hair cells in the cochlea to convert sound waves into electrical signals that are sent to the brain via the auditory nerve. As a result, sounds may be perceived as muffled, faint, or distorted, making it difficult to understand speech, especially in noisy environments.
SNHL is typically permanent and cannot be corrected with medication or surgery, but hearing aids or cochlear implants can help improve communication and quality of life for those affected.
Brain diseases, also known as neurological disorders, refer to a wide range of conditions that affect the brain and nervous system. These diseases can be caused by various factors such as genetics, infections, injuries, degeneration, or structural abnormalities. They can affect different parts of the brain, leading to a variety of symptoms and complications.
Some examples of brain diseases include:
1. Alzheimer's disease - a progressive degenerative disorder that affects memory and cognitive function.
2. Parkinson's disease - a movement disorder characterized by tremors, stiffness, and difficulty with coordination and balance.
3. Multiple sclerosis - a chronic autoimmune disease that affects the nervous system and can cause a range of symptoms such as vision loss, muscle weakness, and cognitive impairment.
4. Epilepsy - a neurological disorder characterized by recurrent seizures.
5. Brain tumors - abnormal growths in the brain that can be benign or malignant.
6. Stroke - a sudden interruption of blood flow to the brain, which can cause paralysis, speech difficulties, and other neurological symptoms.
7. Meningitis - an infection of the membranes surrounding the brain and spinal cord.
8. Encephalitis - an inflammation of the brain that can be caused by viruses, bacteria, or autoimmune disorders.
9. Huntington's disease - a genetic disorder that affects muscle coordination, cognitive function, and mental health.
10. Migraine - a neurological condition characterized by severe headaches, often accompanied by nausea, vomiting, and sensitivity to light and sound.
Brain diseases can range from mild to severe and may be treatable or incurable. They can affect people of all ages and backgrounds, and early diagnosis and treatment are essential for improving outcomes and quality of life.
Retinal vein occlusion (RVO) is a medical condition that occurs when one of the retinal veins, which drains blood from the retina, becomes blocked by a blood clot or atherosclerotic plaque. This blockage can cause hemorrhages, fluid accumulation, and damage to the retinal tissue, leading to vision loss.
There are two types of RVO: branch retinal vein occlusion (BRVO) and central retinal vein occlusion (CRVO). BRVO affects a smaller branch retinal vein, while CRVO affects the main retinal vein. CRVO is generally associated with more severe vision loss than BRVO.
Risk factors for RVO include hypertension, diabetes, high cholesterol levels, smoking, and glaucoma. Age is also a significant risk factor, as RVO becomes more common with increasing age. Treatment options for RVO may include controlling underlying medical conditions, laser therapy, intravitreal injections of anti-VEGF agents or steroids, and surgery in some cases.
Vascular Endothelial Growth Factor A (VEGFA) is a specific isoform of the vascular endothelial growth factor (VEGF) family. It is a well-characterized signaling protein that plays a crucial role in angiogenesis, the process of new blood vessel formation from pre-existing vessels. VEGFA stimulates the proliferation and migration of endothelial cells, which line the interior surface of blood vessels, thereby contributing to the growth and development of new vasculature. This protein is essential for physiological processes such as embryonic development and wound healing, but it has also been implicated in various pathological conditions, including cancer, age-related macular degeneration, and diabetic retinopathy. The regulation of VEGFA expression and activity is critical to maintaining proper vascular function and homeostasis.
An intravitreal injection is a medical procedure in which medication is delivered directly into the vitreous cavity of the eye, which is the clear, gel-like substance that fills the space between the lens and the retina. This type of injection is typically used to treat various eye conditions such as age-related macular degeneration, diabetic retinopathy, retinal vein occlusion, and uveitis. The medication administered in intravitreal injections can help to reduce inflammation, inhibit the growth of new blood vessels, or prevent the formation of abnormal blood vessels in the eye.
Intravitreal injections are usually performed in an outpatient setting, and the procedure typically takes only a few minutes. Before the injection, the eye is numbed with anesthetic drops to minimize discomfort. The medication is then injected into the vitreous cavity using a small needle. After the injection, patients may experience some mild discomfort or a scratchy sensation in the eye, but this usually resolves within a few hours.
While intravitreal injections are generally safe, there are some potential risks and complications associated with the procedure, including infection, bleeding, retinal detachment, and increased intraocular pressure. Patients who undergo intravitreal injections should be closely monitored by their eye care provider to ensure that any complications are promptly identified and treated.
Macular edema is a medical condition characterized by the accumulation of fluid in the macula, a small area in the center of the retina responsible for sharp, detailed vision. This buildup of fluid causes the macula to thicken and swell, which can distort central vision and lead to vision loss if not treated promptly. Macular edema is often a complication of other eye conditions such as diabetic retinopathy, age-related macular degeneration, retinal vein occlusion, or uveitis. It's important to note that while macular edema can affect anyone, it is more common in people with certain medical conditions like diabetes.
Ophthalmology is a branch of medicine that deals with the diagnosis, treatment, and prevention of diseases and disorders of the eye and visual system. It is a surgical specialty, and ophthalmologists are medical doctors who complete additional years of training to become experts in eye care. They are qualified to perform eye exams, diagnose and treat eye diseases, prescribe glasses and contact lenses, and perform eye surgery. Some subspecialties within ophthalmology include cornea and external disease, glaucoma, neuro-ophthalmology, pediatric ophthalmology, retina and vitreous, and oculoplastics.
A Retinal Vein is a vessel that carries oxygen-depleted blood away from the retina, a light-sensitive layer at the back of the eye. The retinal veins originate from a network of smaller vessels called venules and ultimately merge to form the central retinal vein, which exits the eye through the optic nerve.
Retinal veins are crucial for maintaining the health and function of the retina, as they facilitate the removal of waste products and help regulate the ocular environment. However, they can also be susceptible to various pathological conditions such as retinal vein occlusions, which can lead to vision loss or damage to the eye.
Cytokines are a broad and diverse category of small signaling proteins that are secreted by various cells, including immune cells, in response to different stimuli. They play crucial roles in regulating the immune response, inflammation, hematopoiesis, and cellular communication.
Cytokines mediate their effects by binding to specific receptors on the surface of target cells, which triggers intracellular signaling pathways that ultimately result in changes in gene expression, cell behavior, and function. Some key functions of cytokines include:
1. Regulating the activation, differentiation, and proliferation of immune cells such as T cells, B cells, natural killer (NK) cells, and macrophages.
2. Coordinating the inflammatory response by recruiting immune cells to sites of infection or tissue damage and modulating their effector functions.
3. Regulating hematopoiesis, the process of blood cell formation in the bone marrow, by controlling the proliferation, differentiation, and survival of hematopoietic stem and progenitor cells.
4. Modulating the development and function of the nervous system, including neuroinflammation, neuroprotection, and neuroregeneration.
Cytokines can be classified into several categories based on their structure, function, or cellular origin. Some common types of cytokines include interleukins (ILs), interferons (IFNs), tumor necrosis factors (TNFs), chemokines, colony-stimulating factors (CSFs), and transforming growth factors (TGFs). Dysregulation of cytokine production and signaling has been implicated in various pathological conditions, such as autoimmune diseases, chronic inflammation, cancer, and neurodegenerative disorders.
Susac's syndrome
Robert B. Daroff
Lymphocytic pleocytosis
Heinz Wiendl
Foreign accent syndrome
Susac
Branch retinal artery occlusion
Endothelium
Inflammatory demyelinating diseases of the central nervous system
Microvasculitis
Corpus callosum
Lesional demyelinations of the central nervous system
List of syndromes
List of diseases (S)
List of eponymous diseases
Glossary of underwater diving terminology: P-S
Fat acceptance movement
Phosphatidylethanolamine N-methyltransferase
Susac's syndrome - Wikipedia
Detection of branch retinal artery occlusions in Susac's syndrome | BMC Research Notes | Full Text
Susac syndrome | MedLink Neurology
Susac syndrome (Concept Id: C2717757) - MedGen - NCBI
Otologic manifestations of susac syndrome - Fingerprint - Penn State
cVEMP & oVEMP recovery in Susac syndrome (Suman et al., 2022)
Robert B. Daroff - Wikipedia
Neuro-ophthalmic Manifestations of Vascular Eye Diseases: Vascular Anatomy, Ischemic Optic Neuropathy, Retinal Artery Occlusion
urofacial syndrome - Ontology Browser - Rat Genome Database
Fiol M[au] - Search Results - PubMed
Stroke: Symptoms, tests and treatment | Live Science
Francis CE[au] - Search Results - PubMed
Neurol India: Statistics, Table of Contents
Indian Journal of Ophthalmology
Branch Retinal Artery Occlusion (BRAO) Clinical Presentation: History, Physical, Causes
Dr Yael Barnett
Kristen K. Steenerson, MD's Profile | Stanford Profiles
Tienari, P.<...
8 Rarest Auto-Immune Diseases in the World - Rarest.org
Deena Nasr - Research output - Mayo Clinic
Ciencias de la Salud - Research output - Universidad Nacional Mayor de San Marcos
Clinical Cases and Insights | Figure 1
Claudia Franta-Elmer - Research output - Karl Landsteiner University of Health Sciences
NOVEL - Susac Collection | Eccles Health Sciences Library | J. Willard Marriott Digital Library
Stroke Didactics Videos | Department of Neurology
dlsus43 | MedLink Neurology
Detecting Multiple Sclerosis Mimics Early
Specific PHGKB|Rare Diseases PHGKB|PHGKB
Diagnostic Imaging: Brain
Neuroborreliosis: Unusual clinical presentation and imaging features - Journal of Neurosciences in Rural Practice
John Susac1
- Susac's syndrome is named for Dr. John Susac (1940-2012), of Winter Haven, Florida, who first described it in 1979. (wikipedia.org)
19791
- In the March 1979 report in Neurology, Drs. Susac, Hardman and Selhorst reported two patients with the triad of encephalopathy, hearing loss and microangiopathy of the retina. (wikipedia.org)
Occlusion1
- Susac syndrome presents with a triad of retinal arterial occlusion, deafness, and encephalopathy, although often not all of the components are evident at the onset. (medlink.com)
Susac's Syndrome11
- Susac's syndrome (retinocochleocerebral vasculopathy) is a very rare form of microangiopathy characterized by encephalopathy, branch retinal artery occlusions and hearing loss. (wikipedia.org)
- Susac's syndrome is a very rare disease, of unknown cause, and many persons who experience it do not display the bizarre symptoms named here. (wikipedia.org)
- Demyelination is not a typical feature of Susac's syndrome. (wikipedia.org)
- 2003), MRI images from 27 patients fulfilling the diagnostic criteria of Susac's syndrome were reviewed. (wikipedia.org)
- Multiple sclerosis (MS) and acute disseminated encephalomyelitis (ADEM) can mimic the MRI changes seen in patients with Susac's syndrome. (wikipedia.org)
- However, the callosal lesions in Susac's syndrome are centrally located. (wikipedia.org)
- If close attention is not paid to the retina of a patient with vision loss and brain lesions, their symptoms may be mistaken for MS instead of Susac's syndrome. (wikipedia.org)
- There is also a pathological similarity between the endotheliopathy in Susac's syndrome with that seen in juvenile dermatomyositis. (wikipedia.org)
- We report an interesting case of asymptomatic retinal involvement in an encephalopathic patient enabling early identification of Susac's syndrome. (biomedcentral.com)
- A 39-year-old Caucasian lady with hearing loss and encephalopathy was referred for ophthalmic assessment, including screening for branch retinal artery occlusions characteristic of Susac's syndrome. (biomedcentral.com)
- She too was diagnosed with Susac's Syndrome. (radio.cz)
Lesions3
- If a Susac patient has 10 lesions, more than half will be in the corpus callosum. (wikipedia.org)
- Axial brain DWI in a 22-year-old man diagnosed with Susac syndrome, showing multifocal subacute punctate supratentorial white matter lesions (black arrows) with the most prominent lesion affecting the posterior corpus callosum (red arrowhead). (medlink.com)
- The advent of disease-modifying medications appears to have significantly altered the course of MS. The administration of disease-modifying medications in the clinically isolated syndrome has been repeatedly demonstrated to delay the progression to clinically definite MS. [ 2 , 3 ] Not only may this therapy decrease relapse rates and new MRI lesions, but it may also reduce the development of confirmed disability. (medscape.com)
Encephalopathy3
- Susac syndrome is typically a triad of encephalopathy, retinopathy, and hearing loss, but may have an atypical presentation. (medlink.com)
- Susac syndrome is characterized by a triad of encephalopathy, retinopathy, and hearing loss. (medlink.com)
- The triad of clinical features in Susac syndrome is encephalopathy, retinopathy, and hearing loss. (medlink.com)
Neurology1
- William F. Hoyt was the first to call the syndrome Susac syndrome and later Robert Daroff asked Dr. Susac to write an editorial in Neurology about the disorder and to use the eponym of Susac syndrome in the title, forever linking this disease with him. (wikipedia.org)
Diagnostic1
- Diagnostic criteria for Susac syndrome. (nih.gov)
Deafness3
- Hearing loss related to Usher syndrome is caused by abnormal hair cell development, according to the National Institute of Deafness and Other Communication Disorders. (groveeyecenter.us)
- Other rare conditions that may affect vision and hearing include deafness myopia syndrome and Susac syndrome. (groveeyecenter.us)
- Deafness and myopia syndrome is a rare genetic disorder that causes severe nearsightedness and moderate to profound hearing loss. (groveeyecenter.us)
Retinocochleocerebral vasculopathy1
- Sucas's syndrome (SS) is a retinocochleocerebral vasculopathy. (biomedcentral.com)
Vestibular3
- Cervical and ocular vestibular evoked myogenic potential recovery in Susac syndrome: A case report. (figshare.com)
- Acute Vestibular Syndrome and ER Presentations of Dizziness. (stanford.edu)
- Acute vestibular syndrome (AVS) describes sudden onset, severe, continuous dizziness that persists for more than 24 hours. (stanford.edu)
OMIM1
- Any defect in them leads to group of disorders called ciliopathies, and Bardet-Biedl syndrome (BBS, OMIM 209900) is one among them. (ijo.in)
Diagnosis3
- In this article, the author describes the clinical features, pathology, and diagnosis of this syndrome as well as atypical presentations. (medlink.com)
- the authors suggested classifying the disease course into suspected, incomplete, and complete Susac syndrome to facilitate early diagnosis. (medlink.com)
- Susac syndrome: challenges in the diagnosis and treatment. (nih.gov)
Autoimmune disorder2
- Susac syndrome (SS) is a rare autoimmune disorder that affects the brain and the retina and causes unilateral or bilateral sensorineural hearing loss. (figshare.com)
- Guillain-Barré syndrome is a serious autoimmune disorder that attacks your body's nerves. (rarest.org)
Clinical1
- A variety of pathogenic processes leading to CNSV may have similar or overlapping clinical presentations and can mimic noninflammatory vasculopathies on conventional MR imaging or CT (eg, atherosclerosis, dissection, and reversible cerebrovascular vasoconstriction syndrome). (ajnr.org)
Acute2
- Increased cardiac troponins, not associated with acute coronary syndrome. (krasgmu.ru)
- Pneumonia due to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. (ocu-radiology.jp)
Cochlear1
- Depending on the severity of the syndrome, learning sign language and using hearing aids, cochlear implants, and assistive devices can be helpful. (groveeyecenter.us)
Ocular1
- Anisocoria Due to Ocular Ischemic Syndrome. (nih.gov)
Stroke1
- Doctors say he suffered from the extremely rare Susac Syndrome caused by a stroke or blow to the head which damages the parts of the brain that control speech. (radio.cz)
Case1
- Susac syndrome with prominent dermatological findings and a prompt response to intravenous immunoglobulin, steroids, and rituximab: a case report. (medlink.com)
Affects2
- The syndrome usually affects women around the age of 18 years, with female to male ratio of cases of 2:1. (wikipedia.org)
- Usher Syndrome, a rare genetic condition, affects both hearing and vision. (groveeyecenter.us)
Type1
- More frequent screening may be needed for complications, including neuropathy-related dry eye syndrome, IOP changes, and diabetic retinopathy in children with Type 1 DM. (ijo.in)
Variant1
- In partial or variant forms of this syndrome, only one or two of the three components are clinically manifest. (medlink.com)
Hearing loss2
- As many as 75% of children with the syndrome have hearing loss and more than 50% have problems with vision, according to Eunice Kennedy Shriver National Institute of Child Health and Human Development. (groveeyecenter.us)
- And they·ve suggested syphilis, lead poisoning, or other maladies, including Susac·s syndrome as causes of his headache, hearing loss, and hallucinations. (cdc.gov)
Update1
- Guidelines for treatment of Susac syndrome - An update. (nih.gov)
Review2
Small1
- Cushing's syndrome due to ectopic secretion of adrenocorticotropic hormone from small-cell lung cancer. (ocu-radiology.jp)
Years1
- The syndrome is self-limiting but may persist for years, with a fluctuating course. (medlink.com)
People1
- Cataract surgery, eyeglasses, and hearing aids help people with Down syndrome improve their hearing and vision. (groveeyecenter.us)