scholarly journals Susac Syndrome: an uncommon cause of impaired vision

Author(s):  
Paolo Barbero ◽  
Domizia Vecchio ◽  
Eleonora Virgilio ◽  
Paola Naldi ◽  
Cristoforo Comi ◽  
...  

AbstractA 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.

Cephalalgia ◽  
2013 ◽  
Vol 33 (11) ◽  
pp. 906-913 ◽  
Author(s):  
Tal Eidlitz-Markus ◽  
Avraham Zeharia ◽  
Yishay Haimi-Cohen ◽  
Osnat Konen

Objectives: Studies have reported an association between migraine and white matter hyperintensities on T2-weighted brain magnetic resonance imaging (MRI) in adults. The aim of the present study was to evaluate white matter MRI brain findings in pediatric patients with migraine. Methods: The medical files and imaging scans of all 194 patients who underwent brain MRI at the headache clinic of a tertiary medical center in 2008–2011 were reviewed. Results: Mean age was 10.9 ± 3.5 years. Migraine was diagnosed in 131 patients and other disorders in 63. In the migraine group, findings on physical and laboratory examinations were within normal range. White matter lesions were identified on MRI scan in 14 children with migraine (10.6%) and none of the children with other disorders ( p = 0.006). In 13/14 patients, the lesions were focal with a variable distribution; in the remaining patient, confluent periventricular hyperintensities were documented. Conclusions: In a headache clinic of a tertiary pediatric medical center, white matter lesions are found in about 10% of pediatric patients with migraine.


STEMedicine ◽  
2021 ◽  
Vol 2 (8) ◽  
pp. e101
Author(s):  
Jian Wang ◽  
Dimas Lima

Multiple sclerosis is one of most widespread autoimmune neuroinflammatory diseases which mainly damages body function such as movement, sensation, and vision. Despite of conventional clinical presentation, brain magnetic resonance imaging of white matter lesions is often applied to diagnose multiple sclerosis at the early stage. In this article, we proposed a 6-layer stochastic pooling convolutional neural network with multiple-way data augmentation for multiple sclerosis detection in brain MRI images. Our approach does not demand hand-crafted features unlike those traditional machine learning methods. Via application of stochastic pooling and multiple-way data augmentation, our 6-layer CNN achieved equivalent performance against those deep learning methods which consist of so many layers and parameters that ordinarily bring difficulty to training. The results showed that this 6-layer CNN obtained a sensitivity of 95.98±0.46%, a specificity of 95.67±0.92%, and an accuracy of 95.82±0.58%. According to comparison experiments, our results are better than state-of-the-art approaches. Further, we also conducted ablation experiments to examine the contribution of stochastic pooling and multiple-way data augmentation to the original CNN model. The contrast experiments revealed that our scheme of stochastic pooling and multiple-way data augmentation enhanced the original 6-layer CNN model compared to those using maximum pooling or average pooling and inadequate data augmentation.


2009 ◽  
Vol 67 (3a) ◽  
pp. 633-638 ◽  
Author(s):  
Marco O. Py ◽  
Leonardo Maciel ◽  
Roberto C. Pedrosa ◽  
Jose H. M. Nascimento ◽  
Emiliano Medei

We previously demonstrated correlation between parasympathetic dysfunction and brain white matter lesions in chronic chagasic patients. OBJECTIVE: To correlate serum functional circulating antibodies with beta adrenergic (Ab-β), muscarinic (Ab-M) or muscarinic and beta adrenergic (Ab-Mβ) activity, the autonomic system function and brain lesions in chronic chagasic patients. METHOD: In fifteen consecutive chagasic patients, the autonomic nervous system was evaluated and brain magnetic resonance imaging (MRI) was performed. The sera of all patients were tested to the presence of circulating functional antibodies. RESULTS: Sera from 11 of 15 chronic chagasic patients had some activity (Ab-β: 7; Ab-M: 1; Ab-Mβ: 3); however, there was no significant correlation between the presence of antibodies and the autonomic system function or the presence of hyperintensities in MRI. CONCLUSION: The mechanism involved in the genesis of hyperintense lesions seen in brain MRI of chronic chagasic patients is still unresolved, although apparently related to parasympathetic dysfunction.


Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 4214-4214
Author(s):  
Yoshiaki Abe ◽  
Kentaro Narita ◽  
Hiroki Kobayashi ◽  
Akihiro Kitadate ◽  
Masami Takeuchi ◽  
...  

Abstract Introduction: Neurological symptoms related to the involvement of the central nervous system (CNS) have been commonly observed at diagnosis and at relapse in intravascular large B-cell lymphoma (IVLBCL). Although various patterns of abnormal findings on brain magnetic resonance imaging (MRI) in patients with IVLBCL have been reported, most of them were from case reports or small case series of selected patients.Hence, we aimed to investigate the prevalence and clinical value of abnormal findings detected using brain MRI in patients with IVLBCL regarding diagnosis and prognosis. Methods: A total of 33 consecutive patients diagnosed with IVLBCL who underwent treatment at Kameda Medical Center between 1998 and 2017 were available for data of routine pretreatment brain MRI.The diagnosis of IVLBCL was pathologically made by an expert hematopathologist (KT) in all patients. Brain MRI was performed as previously reported, and the abnormalities were classified into the following 4patterns by 2 neuroradiologists in consensus (Figure 1): (A) hyperintense lesion in the pons on T2-weighted imaging (T2WI), (B) nonspecific white matter lesions, (C) infarct-like lesions, and (D) meningeal thickening and/or enhancement. We subsequently identified 77 consecutive patients (52 patients at initial presentation and 25 patients at relapse) with pathologically diagnosed diffuse large B-cell lymphoma (DLBCL) without IVLBCL and 41 patients who received random-skin biopsy on the suspicion of IVLBCL but were found to be negative, as control groups for the presence or absence of hyperintense lesions in the pons. Results: Pretreatment brain MRI revealed abnormal findings in 29 (87.9%) patients. Hyperintense lesions in the pons on T2WI was the most common abnormal finding and was detected in 19 (65.5%) patients. Among them, 10 (52.6%) patients did not have impaired consciousness (Figure 2). Among the 7 patients in whom hyperintense lesions in the pons on T2WI was the sole abnormality, 5 patients (71.4%) did not have impaired consciousness. Infarct-like lesions were detected in 8 (27.6%) patients, and impaired consciousness was more frequent in patients with this pattern than in those without (87.5% vs. 28.0%; P=0.005). Nonspecific white matter lesions and meningeal thickening and/or enhancement were detected in 14 (48.3%) and 4 (13.8%) patients, respectively. No significant difference in overall survival (OS) was detected between patients with and without hyperintense lesions in the pons on T2WI (Figure 3). Patients with nonspecific white matter lesions had relatively shorter OS than those without the finding, although the difference was not statistically significant (median OS, 19.8 months vs. not achieved; P=0.057). Infarct-like lesions were associated with unfavorable survival (median OS, 12.5 months vs. not achieved; P=0.030). Follow-up brain MRI revealed improvements in abnormal findings in most of the patients who responded to chemotherapy (Figure 4). Furthermore, postmortem examinations revealed pathological changes in the brain related to the lymphoma lesions, indicating that these MRI findings might represent these lesions of the brain. Next, we reviewed findings on brain MRI in 77 control patients with DLBCL without IVLBCL. Among them, 16 (20.8%) patients had concomitant CNS involvement of lymphoma. No patients harbored hyperintense lesions in the pons, in contrast with the patients with IVLBCL (P<0.001). This finding was detected in no patient also among those who received random-skin biopsy on the suspicion of IVLBCL but were found to be negative (P<0.001). Conclusions: Our findings revealed that most patients with IVLBCL presented abnormal findings on pretreatment brain MRI, even if they exhibited no neurological symptoms. In particular, hyperintense lesions in the pons on T2WI were frequently observed in patients with IVLBCL, irrespective of the presence or absence of impaired consciousness, and were highly specific in IVLBCL compared to those in control groups, suggesting that this pattern may be pathognomonic and valuable for the timely diagnosis of IVLBCL. Improvements in all types of abnormal findings on follow-up brain MRI indicated that these findings might reflect structural changes associated with IVLBCL and might be useful for confirmation of the therapeutic effect. Further longitudinal studies are required to validate our findings and determine their clinical implications. Disclosures No relevant conflicts of interest to declare.


BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Atsuhiko Sugiyama ◽  
Takahiro Takeda ◽  
Mizuho Koide ◽  
Hajime Yokota ◽  
Hiroki Mukai ◽  
...  

Abstract Background Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease. Pathologically, it is characterized by eosinophilic hyaline intranuclear inclusions in the cells of the visceral organs as well as central, peripheral, and autonomic nervous system cells. Recently, a GGC repeat expansion in the NOTCH2NLC gene has been identified as the etiopathological agent of NIID. Interestingly, this GGC repeat expansion was also reported in some patients with a clinical diagnosis of amyotrophic lateral sclerosis (ALS). However, there are no autopsy-confirmed cases of concurrent NIID and ALS. Case presentation A 60-year-old Taiwanese woman reported a four-month history of progressive weakness beginning in the right foot that spread to all four extremities. She was diagnosed with ALS because she met the revised El Escorial diagnostic criteria for definite ALS with upper and lower motor neuron involvement in the cervical, thoracic, and lumbosacral regions. She died of respiratory failure at 22 months from ALS onset, at the age of 62 years. Brain magnetic resonance imaging (MRI) revealed lesions in the medial part of the cerebellar hemisphere, right beside the vermis (paravermal lesions). The subclinical neuropathy, indicated by a nerve conduction study (NCS), prompted a potential diagnosis of NIID. Antemortem skin biopsy and autopsy confirmed the coexistence of pathology consistent with both ALS and NIID. We observed neither eccentric distribution of p62-positive intranuclear inclusions in the areas with abundant large motor neurons nor cytopathological coexistence of ALS and NIID pathology in motor neurons. This finding suggested that ALS and NIID developed independently in this patient. Conclusions We describe a case of concurrent NIID and ALS discovered during an autopsy. Abnormal brain MRI findings, including paravermal lesions, could indicate the coexistence of NIID even in patients with ALS showing characteristic clinical phenotypes.


2017 ◽  
Vol 41 (S1) ◽  
pp. s839-s839 ◽  
Author(s):  
M. Solerdelcoll Arimany ◽  
M. Garriga ◽  
E. Parellada

IntroductionDelayed post-hypoxic leukoencephalopathy (DPHL) is an underrecognized syndrome of delayed demyelination, where patients manifest neuropsychiatric symptoms after a period of 2–40 days of apparent recovery from a cerebral hypo-oxygenation episode.ObjectivesWe report a case of a patient who successfully recovered from an overdose of heroin, but then suffered a delayed abrupt neurological deterioration.AimsTo improve assessment and recognition of DPHL.MethodsAn adequate retrospective collection of clinical data and nonsystematic review of the literature was performed.ResultsA 43-year-old male with schizoaffective disorder who attempted suicide with an overdose of heroin, was successfully revived and return to his previously mental status, but 3 weeks after, he abruptly developed progressive cognitive impairment with akinetic mutism and ataxia. He was admitted to our acute psychiatric unit after brain CT and chemistry analyses were unremarkable. Brain MRI showed diffusely symmetric hyperintensity in the white matter (WM), pronominally the periventricular WM, on FLAIR and T2 weighted sequences. At 16 weeks postoverdose, he presented improvement both cognitive and motor symptoms, lasting deficits in frontal-executive functions.DiscussionDPHL is characterized by similar clinical and neuroimaging features regardless of the initial insult. The mean lucid interval coincides with the replacement half-life for myelin related lipids and proteins. Prolonged mild-to-moderate hypo-oxygenation of WM is thought to disrupt myelin turnover. It appears probable that these were responsible for DPHL in our patient rather than a direct toxicity.ConclusionDPHL can be diagnosed when clinical history, laboratory assessments and MRI findings are concordant. DPHL requires extensive support care and carries a relatively good prognosis.Disclosure of interestThe authors have not supplied their declaration of competing interest.


Author(s):  
Carole Scheifer ◽  
Marie‐Cécile Henry Feugeas ◽  
Mélanie Roriz ◽  
Fleur Cohen Aubart ◽  
Serge Doan ◽  
...  

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii379-iii379
Author(s):  
Carlos Leal - Cavazos ◽  
Jose Arenas-Ruiz ◽  
Oscar Vidal-Gutierrez

Abstract BACKGROUND Low grade gliomas (LGGs) are the most frequent pediatric brain tumor and they comprise a variety of histologies. Complete surgery is curative but sometimes its location makes it difficult. Recent publications highlight the excellent long-term outcomes of patients with LGGs with complete and incomplete resected tumors. Current strategies are focused on reducing risks of treatment related sequelae. METHOD We describe a patient with a suspected LGG managed by close observation. We describe the case of a 6 year old female with 5 months history of focal onset seizures. During this time a brain MRI was requested and tumor was evidenced. After “tumor diagnosis” was made family visited a handful of private neurosurgeons with a uniformly dismal prognosis and high risk morbidity from procedures offered. When first seen at our Hospital, the clinical history seemed compatible with a LGG and seizures well controlled with antiepileptic drugs. Neurological examination was completely normal. MRI showed a large tumor (7x5x5 cm) hypointense on T1, hyperintense on T2, without contrast enhancement, involving the right temporal lobe white matter, insula, internal capsule, hipoccampus, thalamus and mesencephalus with middle cerebral artery encasement. Interval imaging was proposed and after 4.5 years since diagnosis the tumor has been stable and patient clinically excellent. CONCLUSION Overall survival in pediatric LGGs is excellent and risk of sequelae should always be part of multidisciplinary team considerations. In centers with significant neurosurgical morbidity, biopsy of large tumors that are compatible with LGG may not be required in selected cases.


Circulation ◽  
2021 ◽  
Vol 144 (Suppl_2) ◽  
Author(s):  
Aurora Magliocca ◽  
Carlo Perego ◽  
Francesca Motta ◽  
Giulia Merigo ◽  
Francesca M Fumagalli ◽  
...  

Introduction: Kynurenine pathway (KP) is emerging as one of the potential components affecting cardiac arrest (CA) outcomes. The aim of this study is to evaluate the effects of KP inhibition through genetic deletion of the rate-limiting enzyme of the KP, indoleamine-2,3-dyoxygenase (IDO) on survival and neurological outcome after CA. Methods and Results: Sixteen adult male wild-type (WT) and IDO-deleted (IDO -/- ) mice were subjected to 8 min untreated CA followed by resuscitation. At baseline heart rate and mean arterial pressure (MAP) did not differ among groups. At the time of return of spontaneous circulation, 30 and 60 min later, MAP was higher in the IDO -/- group compared to the WT one (p=0.0005). IDO -/- mice showed higher survival compared to WT at 7 days after CA (68.5% in IDO -/- vs 37.5% in WT; log rank p=0.036). Neurological function was higher in IDO -/- than in WT mice during the 7 days following CA (p=0.0124). IDO -/- mice also showed an improved locomotor function compared to WT mice (p=0.037). Brain magnetic resonance imaging (MRI) with diffusion tensor imaging (DTI) sequences showed a reduction in fractional anisotropy in the external capsule of the corpus callosum in WT mice compared to IDO -/- mice at 7 days after resuscitation (p=0.015). We then treated additional IDO -/- mice with L-kyn 15 min before CA, to revert the IDO -/- phenotype. Brain MRI with diffusion-weighted imaging (DWI) sequences and histological analysis were performed 24h after CA in WT, IDO -/- , and IDO -/- +L-Kyn mice. Brain MRI revealed restriction of water diffusivity 24h after CA in WT mice. IDO-deletion reduced water diffusion abnormalities while the beneficial effect was reverted in the L-kyn group (p=0.01). Degenerating neurons in the frontal cortex, represented as Fluoro-Jade B positive cells, were more numerous in WT compared to IDO -/- mice; L-kyn halted this IDO deletion-induced reduction in degenerating cells (p=0.05). Conclusion: KP inhibition improves survival and neurological outcome after CA. The neuroprotective effect of IDO-deletion was associated with preservation of brain white matter microintegrity and with reduction of cerebral cytotoxic edema. Reversal of these beneficial effects by L-kyn administration in IDO -/- mice further confirm the KP role in CA outcome.


2021 ◽  
Author(s):  
Tomer Stern ◽  
Liora Kornreich ◽  
Hadassa Goldberg

Abstract Background We aimed to find the clinical significance of brain abnormalities on magnetic resonance imaging (MRI) in epilepsy and the lateralization of these findings with electroencephalogram (EEG). Methods We retrospectively analyzed the results of all EEGs and brain MRIs of 600 consecutive epilepsy patients from 1998 to 2020. Results Data were available for 563 cases (267 females). Ninety percent of the patients were 18 years old or younger. A total of 345 patients (61.3%) had focal epilepsy, 180 (32%), generalized, and 38 (6.7%), inconclusive. In 187 (33.2%), the first MRI was abnormal and in 81 (out of 108 repeated MRI), the second was pathological. The most frequent brain abnormalities were cortical dysplasia in 41 (18.1%), other structural abnormalities in 25 (11%), various phacomatoses in 23 (10.1%), and mesial temporal sclerosis in 17 (7.5%). Among 226 patients with abnormal MRI, 171 (75.6%) had focal epilepsy when compared with 36 (15.9%) with generalized epilepsy (p <0.001). In 121 patients (53.5%), the result of the abnormal MRI contributed significantly to the understanding of the epilepsy etiology. The side of abnormality was lateralized to the EEG focus in 120 cases (53%); in 10/15 cases with infantile spasms (66%), MRI was significantly abnormal. In 33, in whom the first MRI was normal, a second MRI revealed a significant abnormality. Conclusion Brain MRI is an important tool in epilepsy diagnosis, mainly in focal seizures and infantile spasms. A repeat MRI is mandatory in intractable focal cases to improve the yield of this test.


Sign in / Sign up

Export Citation Format

Share Document