-
BMC Neurology Apr 2022In this case, we reported the pseudobulbar affect (PBA) in a patient with Susac's syndrome-a rare condition that was caused by a rare syndrome. Previous case reports of...
BACKGROUND
In this case, we reported the pseudobulbar affect (PBA) in a patient with Susac's syndrome-a rare condition that was caused by a rare syndrome. Previous case reports of Susac syndrome described psychiatric symptoms such as emotional disturbances or personality changes. Only a few case reports have reported psychiatric disorders in patients with Susac's syndrome. There were no reported cases of Susac syndrome with PBA as an initial presentation.
CASE PRESENTATION
Our patient was 56 years old and presented with involuntary crying, left-sided headache, left-sided hearing loss, and tinnitus. Brain MRI showed numerous areas of restricted diffusion and enhancement involving the corpus callosum, bilateral hemispheres, and brainstem. Ophthalmological evaluation showed bilateral branch retinal artery occlusion. She was diagnosed with Susac's syndrome and PBA. She was treated with cyclophosphamide and dextromethorphan hydrobromide/quinidine sulfate with excellent recovery. This is a 2-year clinical course.
DISCUSSION AND CONCLUSIONS
Recognition of the clinical presentation of Susac's syndrome and PBA with early diagnosis and treatment are the keys to preventing further disability and impact on patients and their families.
Topics: Corpus Callosum; Crying; Female; Humans; Middle Aged; Rare Diseases; Retinal Artery Occlusion; Susac Syndrome
PubMed: 35468771
DOI: 10.1186/s12883-022-02639-9 -
Chinese Medical Journal Jul 2020
Topics: Fluorescein Angiography; Humans; Magnetic Resonance Imaging; Retinal Artery Occlusion; Susac Syndrome
PubMed: 32649514
DOI: 10.1097/CM9.0000000000000909 -
BMJ Case Reports Aug 2019A 47-year-old woman presented an episode of confusion and disorientation. According to remarkable psychiatric records, she had been treated for major depression and...
A 47-year-old woman presented an episode of confusion and disorientation. According to remarkable psychiatric records, she had been treated for major depression and obsessive-compulsive disorder; however, no other relevant background was known. After preliminary examinations, blood analysis and neurological tests were unspecific and inconclusive. Therefore, the case was treated as a possible psychiatric episode related to her previous psychiatric disorders. However, due to the atypical presentation of the case, a cerebral MRI was performed, which demonstrated multiple central lesions of the corpus callosum ('snowball lesions'), as well as several supratentorial white matter lesions. As a result of the follow-up of the case, sensorineural hearing loss and branch retinal artery were detected, which concluded in the classic triad and the confirmation of the diagnosis of a Susac syndrome.
Topics: Confusion; Diagnosis, Differential; Dissociative Disorders; Female; Humans; Middle Aged; Susac Syndrome
PubMed: 31471356
DOI: 10.1136/bcr-2019-229422 -
Neurology(R) Neuroimmunology &... Oct 2015
PubMed: 26445727
DOI: 10.1212/NXI.0000000000000151 -
Journal of Medical Case Reports May 2016Susac syndrome (retinocochleocerebral vasculopathy) is an autoimmune endotheliopathy affecting the precapillary arterioles of the brain, retina, and inner ear. It...
BACKGROUND
Susac syndrome (retinocochleocerebral vasculopathy) is an autoimmune endotheliopathy affecting the precapillary arterioles of the brain, retina, and inner ear. It presents with encephalopathy, branch retinal artery occlusions, and hearing loss. The condition is often under recognized because the clinical symptoms may present at different times and physicians may be unfamiliar with the syndrome. Peripheral findings would be helpful in early diagnosis. There are numerous treatment regimens proposed with varying effectiveness.
CASE PRESENTATION
We report the case of a 22-year-old Caucasian man in whom there were prominent skin findings, including livedo reticularis and a micropapular eruption which responded promptly to treatment suggesting that skin involvement may facilitate earlier diagnosis. Rituximab has occasionally been used in more refractory disease. We observed a prompt response to the combination of intravenous immunoglobulin, corticosteroids, and rituximab instituted immediately after diagnosis.
CONCLUSIONS
A careful search for dermatological manifestations may help with earlier diagnosis. Skin findings may be another marker of endothelial cell involvement. Early use of rituximab as part of the therapeutic regimen may be warranted.
Topics: Brain; Fundus Oculi; Glucocorticoids; Humans; Immunoglobulins, Intravenous; Immunologic Factors; Livedo Reticularis; Magnetic Resonance Imaging; Male; Methylprednisolone; Rituximab; Susac Syndrome; Young Adult
PubMed: 27234436
DOI: 10.1186/s13256-016-0917-4 -
The Pan African Medical Journal 2019The association between deafness and visual disorders is frequent. These disorders range from simple refractive disorder to severe disease that can lead to disability....
The association between deafness and visual disorders is frequent. These disorders range from simple refractive disorder to severe disease that can lead to disability. Hence the interest of early screening. This study aims to highlight the importance of multidisciplinary management and of the need for ophthalmological examination in each deaf child. We conducted a prospective monocentric data collection from medical records of 200 children followed for hypoacousia from January 2014 to January 2015. Each child underwent complete ophthalmological examination, ENT examination and clinical examination. Data from 155 medical records were collected. Ocular involvement was found in 47 patients, reflecting a rate of 30.4%. Bilateral involvement was found in 45 patients. The main syndromic causes were: Usher syndrome (8 casess), Waardenbourg syndrome (5 cases), Alport syndrome (3 cases), Wolfram syndrome (2 cases), Goldenhar syndrome (3 cases), Cogan syndrome (3 cases), Franceschetti-Kleinsyndrome (1 case), Charge syndrome(1 case), otomandibular syndrome (1 case), Stickler syndrome(1 case), Alström syndrome (1 case), Refsum disease (1 case), Susac syndrome (1 case) and KID Syndrome (1 case). Screening for ocular involvement allowed to shorten the average length of cochlear implantation from 9 months to 3 months. There are numerous ocular and auditory involvements because of the embryological and cellular similarities of these two organs, including the retina and the inner ear. The diagnosis of these involvements is facilitated by the presence of facial dysmorphism; on the other hand, diagnosis is difficult when there are visual and auditory sensorineural involvements. Early diagnosis of ocular and auditory involvements allows for best psychomotor development and optimal social inclusion. Therefore multidisciplinary management is necessary to allow for the best psychomotor, orthophonic and visual rehabilitation.
Topics: Adolescent; Child; Child, Preschool; Cochlear Implantation; Deafness; Early Diagnosis; Female; Humans; Infant; Male; Mass Screening; Prospective Studies; Syndrome; Time Factors; Vision Disorders
PubMed: 31565135
DOI: 10.11604/pamj.2019.33.174.17771 -
Journal of Surgical Case Reports Oct 2023Susac syndrome (SS) is a rare microangiopathy affecting the precapillary arterioles of the brain, inner ear, and retina. We present a novel case of SS, presenting as...
Susac syndrome (SS) is a rare microangiopathy affecting the precapillary arterioles of the brain, inner ear, and retina. We present a novel case of SS, presenting as acute incomplete bitemporal field loss in addition to temporally spaced neurological and vestibulocochlear symptoms. A 39-year-old female was referred to the ophthalmology clinic with acute incomplete bitemporal hemianopia and worsening hemicrania. History revealed progressive hearing loss, subjective short-term memory impairment, and vertigo temporally spaced over the preceding 12 months. Magnetic resonance brain revealed multiple small colosal lesions and liner 'spoke' lesions. Fundus fluorescein angiography revealed multiple branch retinal artery occlusions in the right eye. Audiometry confirmed bilateral sensorineural hearing loss. Treatment included intravenous corticosteroids and rituximab. This case highlights the importance of early consideration and evaluation of SS in individuals presenting with atypical ocular disturbances, where no clear cause can be elicited, in order to limit the sequelae of disease.
PubMed: 37867919
DOI: 10.1093/jscr/rjad541 -
Oman Journal of Ophthalmology 2023
PubMed: 38059113
DOI: 10.4103/ojo.ojo_330_22 -
The EPMA Journal 2015Conventional magnetic resonance imaging (MRI) at 1.5 Tesla (T) is limited by modest spatial resolution and signal-to-noise ratio (SNR), impeding the identification and... (Review)
Review
Conventional magnetic resonance imaging (MRI) at 1.5 Tesla (T) is limited by modest spatial resolution and signal-to-noise ratio (SNR), impeding the identification and classification of inflammatory central nervous system changes in current clinical practice. Gaining from enhanced susceptibility effects and improved SNR, ultrahigh field MRI at 7 T depicts inflammatory brain lesions in great detail. This review summarises recent reports on 7 T MRI in neuroinflammatory diseases and addresses the question as to whether ultrahigh field MRI may eventually improve clinical decision-making and personalised disease management.
PubMed: 26312125
DOI: 10.1186/s13167-015-0038-y -
Ophthalmology Mar 2011This article describes the first retinal histopathologic findings in a patient with Susac's syndrome (SS).
PURPOSE
This article describes the first retinal histopathologic findings in a patient with Susac's syndrome (SS).
DESIGN
Observational case report.
PARTICIPANT
A 51-year-old white woman diagnosed with SS.
METHODS
Eyes from a 51-year-old white woman diagnosed with SS were obtained at autopsy. One retina was dissected and processed for adenosine diphosphatase (ADPase) flat embedding. Selected areas were processed further for transmission electron microscopy.
MAIN OUTCOME MEASURES
Histopathologic examination using ADPase flat-embedding technique.
RESULTS
There were vaso-occlusive changes in the retinal periphery resulting in small areas of capillary dropout. Cross-sections demonstrated serous filled spaces between the retinal blood vessels and the internal limiting membrane. Lumens adjacent to these spaces appeared compressed and sometimes closed, but without thrombosis. Decreased ADPase activity in some peripheral blood vessels suggested endothelial cell dysfunction and vaso-occlusion. In the optic nerve head, numerous corpora amylacea were observed in the vicinity of capillaries with thickened walls and narrow lumens. Transmission electron microscopy demonstrated thickened and amorphous vascular basal lamina and open endothelial cell junctions in some retinal blood vessels.
CONCLUSIONS
The serous deposits with compression of retinal vessel lumens observed histologically probably represent the so-called string of pearls described clinically in SS. Chronic extension of these serous deposits along the vessel wall possibly are the cause of retinal arterial wall plaques as described by Gass and other investigators. In the optic nerve head, corpora amylacea are probably a result of microinfarcts resulting from optic nerve head capillary angiopathy. Accumulation of amorphous material in the basal lamina, loss of viable endothelial cells, and capillary dropout suggest that SS may be an endotheliopathy.
Topics: Apyrase; Female; Humans; Microscopy, Electron, Transmission; Middle Aged; Optic Disk; Optic Nerve Diseases; Retinal Diseases; Retinal Vessels; Susac Syndrome
PubMed: 20920828
DOI: 10.1016/j.ophtha.2010.07.012