scholarly journals Acute Necrotizing Encephalopathy: An Underrecognized Clinicoradiologic Disorder

2015 ◽  
Vol 2015 ◽  
pp. 1-10 ◽  
Author(s):  
Xiujuan Wu ◽  
Wei Wu ◽  
Wei Pan ◽  
Limin Wu ◽  
Kangding Liu ◽  
...  
Keyword(s):  
Viral Infections ◽  
Febrile Illness ◽  
Nuclear Pore ◽  
Missense Mutations ◽  
Gene Encoding ◽  
Acute Necrotizing Encephalopathy ◽  
Nuclear Pore Protein ◽  
Distinctive Type ◽  
Acute Necrotizing ◽  
Magnetic Resonance Imaging Mri

Acute necrotizing encephalopathy (ANE) is a rare but distinctive type of acute encephalopathy with global distribution. Occurrence of ANE is usually preceded by a virus-associated febrile illness and ensued by rapid deterioration. However, the causal relationship between viral infections and ANE and the exact pathogenesis of ANE remain unclear; both environmental and host factors might be involved. Most cases of ANE are sporadic and nonrecurrent, namely, isolated or sporadic ANE; however, few cases are recurrent and with familial episodes. The recurrent and familial forms of ANE were found to be incompletely autosomal-dominant. Further the missense mutations in the gene encoding the nuclear pore protein Ran Binding Protein 2 (RANBP2) were identified. Although the clinical course and the prognosis of ANE are diverse, the hallmark of neuroradiologic manifestation of ANE is multifocal symmetric brain lesions which are demonstrated by computed tomography (CT) or magnetic resonance imaging (MRI). The treatment of ANE is still under investigation. We summarize the up-to-date knowledge on ANE, with emphasis on prompt diagnosis and better treatment of this rare but fatal disease.

scholarly journals RanBP2/Nup358 enhances miRNA activity by sumoylating and stabilizing Argonaute 1

2019 ◽  
Author(s):  
Qingtang Shen ◽  
Yifan E. Wang ◽  
Mathew Truong ◽  
Kohila Mahadevan ◽  
Jing Ze Wu ◽  
...  
Keyword(s):  
Cytokine Production ◽  
Viral Infections ◽  
Nuclear Pore ◽  
Missense Mutations ◽  
Acute Necrotizing Encephalopathy ◽  
Messenger Ribonucleoprotein ◽  
Cytoplasmic Filaments ◽  
Acute Necrotizing ◽  
Main Components ◽  
Ultimate Fate

SUMMARYRanBP2/Nup358 is one of the main components of the cytoplasmic filaments of the nuclear pore complex. It has been speculated that RanBP2, which has an E3 SUMO-ligase domain, may alter the composition of messenger ribonucleoprotein (mRNP) complexes as they emerge from the nuclear pore and thus regulate the ultimate fate of the mRNA in the cytoplasm. Four separate missense mutations in RanBP2 cause Acute Necrotizing Encephalopathy 1 (ANE1), which manifests as a sharp rise in cytokine production after common viral infections such as influenza and parainfluenza. However, how RanBP2 and its ANE1-associated mutations affect cytokine production is not well understood. Here we report that RanBP2 represses the translation of the interleukin-6 (IL6) mRNA, which encodes a cytokine that is aberrantly up-regulated in ANE1. Our data indicates that soon after its production, the IL6 mRNP recruits the RNA-induced silencing complex (RISC) bound to Let7 miRNA. After this mRNP is exported, RanBP2 sumoylates the RISC-component AGO1, thereby stabilizing it and enforcing mRNA silencing. Collectively, these results support a model whereby RanBP2 promotes an mRNP remodelling event that is critical for the miRNA-mediated suppression of clinically relevant mRNAs, such as IL6.

scholarly journals Acute necrotizing encephalopathy of childhood: an under-recognized and diverse clinico-radiological syndrome

2020 ◽  
Vol 7 (11) ◽  
pp. 2106
Author(s):  
Raghavendra Narayan Vanaki ◽  
Suchitra Basappa Diwanmal ◽  
Ramesh Rajesh Pol ◽  
Bhuvaneshwari Chandrashekhar Yelamali ◽  
Milind Ramakant Kulkarni ◽  
...  
Keyword(s):  
Neurodevelopmental Outcome ◽  
Cerebral Atrophy ◽  
Complete Recovery ◽  
Normal Brain ◽  
Mortality And Morbidity ◽  
Acute Necrotizing Encephalopathy ◽  
Medical College ◽  
Mri Brain ◽  
Acute Necrotizing ◽  
Magnetic Resonance Imaging Mri

Background: With advances in neuroimaging, acute necrotizing encephalopathy of childhood (ANEC) is being recognized as an acute encephalopathy with a characteristic rapidly deteriorating neurological course with poor neuro-developmental outcomes with high mortality and morbidity rates. Indian data of ANEC is primitive and hence this study was planned. The objective of the study was to evaluate the clinical, radiological characteristics and its outcomes in children with ANEC.Methods: Retrospective review of 10 infants and children with ANEC at Department of Paediatrics, S.N. Medical College and HSK Hospital, Bagalkot from January 2013 to December 2019. ANEC was suspected based on clinical and radiological characteristics and diagnosis was made based on diagnostic criteria proposed by Mizuguchi et al. Clinical and radiological (Magnetic resonance imaging (MRI) brain characteristics) findings and response to early pulse dose steroid therapy and supportive treatment were assessed in all cases. All cases were followed for evaluation of neurodevelopmental outcome and response to physiotherapy was noted in all the cases.Results: Total 10 cases were analysed (age ranged from 6 months to 11 years). Sex distribution male to female was 3:7. All cases had precedent viral illnesses and had fever, coryza, diarrhoea. The initial neurological symptoms included seizures and status epilepticus (n=7), altered sensorium (n=3), focal neurological signs , gait disturbances (n=2) and diplopia (n=1). MRI brain revealed characteristic thalamus involvement with varied involvement of midbrain, pons, medulla (n=10). Other findings were cavitation (n=5), haemorrhage (n=4), minimal residual lesions (n=4), cerebral atrophy (n=1), normal brain study (n=5) on follow-up. 9 out of 10 cases survived, responded to early physiotherapy and rehabilitation. 6 children had complete recovery with minimal disability in 3 cases.Conclusions: ANEC is a clinico-radiological syndrome. Early detection and appropriate treatment improves outcome in ANEC.

scholarly journals COVID-19 Associated Acute Necrotizing Encephalopathy in a Hospitalized Cohort in Oregon

2020 ◽  
Author(s):  
Holly Vanni ◽  
Austin D Jou ◽  
Christine E Choo ◽  
Eric C. Walter ◽  
Richard A. Mularksi
Keyword(s):  
Observational Studies ◽  
Viral Infections ◽  
Case Reports ◽  
Health Maintenance Organization ◽  
Time Frame ◽  
Health Maintenance ◽  
Acute Necrotizing Encephalopathy ◽  
Acute Necrotizing ◽  
The Central Nervous System ◽  
Novel Coronavirus

Abstract Background/Objective: Severe Acute Respiratory Syndrome Coronavirus-2 (SARSCoV-2) is a novel coronavirus strain that most commonly affects the respiratory system with observational studies and case reports suggesting this virus may target the central nervous system. To date there has been one case report of COVID-19 related acute necrotizing encephalopathy.Methods: Observational study of COVID-19 patients admitted to two hospitals of a large metropolitan health maintenance organization serving over 600,000 members using retrospective electronic and radiographic medical record evaluation across 4 months (March – June of 2020) after multiple cases of acute necrotizing encephalopathy were diagnosed.Results: During this time frame 216 patients were diagnosed with COVID-19, 106 (49%) required hospitalization, 21 (20%) required admission to the intensive care unit (ICU) and 18 (17%) required intubation. Of the 18, 4 (22%) had clinicoradiologic evidence of acute necrotizing encephalopathy (ANE) diagnosed, two with associated areas of hemorrhage.Conclusions: Acute necrotizing encephalopathy (ANE) with or without hemorrhage, is a rare CNS disease, usually seen in childhood as a complication of viral infections. We identified a high percentage of COVID-19 patients with clinicoradiologic evidence of acute necrotizing encephalopathy in our cohort. To our knowledge, ANE has not been reported in patients with SARS or MERS. Understanding the pathogenesis, neurotropism and effects of the SARS-CoV-2 virus is important in developing treatments and improving morbidity and mortality.

scholarly journals COVID-19–Associated Acute Asymmetric Hemorrhagic Necrotizing Encephalopathy: A Case Report

2022 ◽  
pp. 194187442110553
Author(s):  
Najo Jomaa ◽  
Tarek El Halabi ◽  
Jawad Melhem ◽  
Georgette Dib ◽  
Youssef Ghosn ◽  
...  
Keyword(s):  
Neurological Complications ◽  
Parahippocampal Gyrus ◽  
Biological Drugs ◽  
Acute Necrotizing Encephalopathy ◽  
Immune Mediated ◽  
Acute Necrotizing ◽  
History Of ◽  
The Central Nervous System ◽  
Magnetic Resonance Imaging Mri ◽  
The Right

Background: Coronavirus disease 2019 (COVID-19) has been associated with many neurological complications affecting the central nervous system. Purpose: Our aim was to describe a case of COVID-19 associated with a probable variant of acute necrotizing encephalopathy (ANE). Results: A 60-year-old man who presented with a 3-day history of dyspnea, fever, and cough tested positive for severe acute respiratory syndrome–coronavirus 2 (SARS-CoV-2). Five days following his admission, the patient was intubated secondary to respiratory failure. Following his extubation 16 days later, he was found to have a left-sided weakness. Magnetic resonance imaging (MRI) of the brain showed hemorrhagic rim-enhancing lesions involving the right thalamus, left hippocampus, and left parahippocampal gyrus. These lesions showed decreased relative cerebral blood flow on MR perfusion and restricted on diffusion-weighted imaging. These neuroimaging findings were consistent with ANE. The left-sided weakness gradually improved over the subsequent weeks. Conclusions: We concluded that COVID-19 can be associated with ANE, a condition believed to be the result of an immune-mediated process with activation of the innate immune system. Future studies must address whether biological drugs targeting the pro-inflammatory cytokines could prevent the development of this condition.

P249 Recurrent episodes of acute necrotizing encephalopathy caused by a mutation in a component of the nuclear pore, RANBP2

2009 ◽  
Vol 13 ◽  
pp. S98-S99
Author(s):  
S. Mastroyianni ◽  
A. Skardoutsou ◽  
K. Voudris ◽  
E. Katsarou ◽  
J. Nikas ◽  
...  
Keyword(s):  
Nuclear Pore ◽  
Acute Necrotizing Encephalopathy ◽  
Acute Necrotizing

scholarly journals Acute Necrotizing Encephalopathy in a Four-Year-Old Boy

Diagnostics ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 568
Author(s):  
Cheng-Hsien Tsai ◽  
Wei-Sheng Lin
Keyword(s):  
Cerebrospinal Fluid ◽  
Obstructive Hydrocephalus ◽  
Diffusion Imaging ◽  
Febrile Illness ◽  
Fluid Circulation ◽  
Foramen Of Monro ◽  
Cerebrospinal Fluid Circulation ◽  
Acute Necrotizing Encephalopathy ◽  
Acute Necrotizing ◽  
Per Se

Acute necrotizing encephalopathy is a devastating clinico-radiological syndrome characterized by fulminant neurological deterioration after an antecedent febrile illness, as well as the imaging hallmark of bilateral thalamic involvement. Herein, we describe a 4-year-old boy with typical clinical and neuroimaging features of acute necrotizing encephalopathy. The bithalamic swelling led to a block of cerebrospinal fluid circulation at the foramen of Monro, thereby causing the mild dilatation of lateral ventricles. The periventricular areas could, therefore, have been potentially affected by the acute necrotizing encephalopathy per se and/or transependymal edema secondary to obstructive hydrocephalus. The information from diffusion imaging allows for differentiation between these two pathophysiological processes.

scholarly journals Acute Necrotizing Encephalopathy in an Adult

2015 ◽  
Vol 5 ◽  
pp. 20 ◽  
Author(s):  
Ramakrishna Narra ◽  
Adinarayana Mandapalli ◽  
Suseel Kumar Kamaraju
Keyword(s):  
Poor Prognosis ◽  
Viral Infections ◽  
Mortality Rates ◽  
Magnetic Resonance Imaging Examination ◽  
High Morbidity ◽  
Resonance Imaging ◽  
Neurologic Disorder ◽  
Acute Necrotizing Encephalopathy ◽  
Healthy Infants ◽  
Acute Necrotizing

Acute necrotizing encephalopathy (ANE) is a rapidly progressing neurologic disorder that occurs in children after common viral infections of the respiratory or gastrointestinal systems. This disease is commonly seen in East Asia. Normal healthy infants and children can get affected. The condition carries a poor prognosis with high morbidity and mortality rates. We report here a case of a 23-year-old female with ANE and describe its neuroimaging findings. Magnetic resonance imaging examination performed showed symmetric lesions involving the thalami, brainstem, and cerebellum.

scholarly journals Case Report of RANBP2 Mutation and Familial Acute Necrotizing Encephalopathy

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Mohamad Paktinat ◽  
Kamran Hessami ◽  
Soroor Inaloo ◽  
Hamid Nemati ◽  
Pegah Katibeh ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Late Presentation ◽  
Resonance Imaging ◽  
Case Presentation ◽  
Delay In Diagnosis ◽  
Acute Necrotizing Encephalopathy ◽  
High Clinical Suspicion ◽  
Level Of Consciousness ◽  
Acute Necrotizing ◽  
Magnetic Resonance Imaging Mri

Introduction. Acute necrotizing encephalopathy (ANE), a rare entity with unique clinical presentation, can be associated significant morbidity and mortality. The majority of ANE reported cases are sporadic. However, reports of extremely rare familial cases are scarce. Case Presentation. We described three cases, two siblings and their cousin, affected by ANE, all of them exhibiting RAN-binding protein 2 (RANBP2) gene mutation. They all presented with seizure and decreased level of consciousness. Unlike the siblings, the cousin eventually expired mainly due to the delay in diagnosis, resulting from late presentation of typical brain involvements of ANE in magnetic resonance imaging (MRI). Conclusion. The presented cases are the first reports of familial ANE in Iran. Attempt was made to raise awareness on this disease, because high clinical suspicion plays an important role in the early diagnosis and proper management of these patients.

scholarly journals COVID-19 Associated Acute Necrotizing Encephalopathy in a Hospitalized Cohort in Oregon

2020 ◽  
Author(s):  
Holly Vanni ◽  
Austin D Jou ◽  
Christine E Choo ◽  
Eric C. Walter ◽  
Richard A. Mularksi
Keyword(s):  
Observational Studies ◽  
Viral Infections ◽  
Case Reports ◽  
Health Maintenance Organization ◽  
Time Frame ◽  
Health Maintenance ◽  
Acute Necrotizing Encephalopathy ◽  
Acute Necrotizing ◽  
The Central Nervous System ◽  
Novel Coronavirus

Abstract Background/Objective: Severe Acute Respiratory Syndrome Coronavirus-2 (SARSCoV-2) is a novel coronavirus strain that most commonly affects the respiratory system with observational studies and case reports suggesting this virus may target the central nervous system. To date there has been one case report of COVID-19 related acute necrotizing encephalopathy.Methods: Observational study of COVID-19 patients admitted to two hospitals of a large metropolitan health maintenance organization serving over 600,000 members using retrospective electronic and radiographic medical record evaluation across 4 months (March – June of 2020) after multiple cases of acute necrotizing encephalopathy were diagnosed.Results: During this time frame 216 patients were diagnosed with COVID-19, 106 (49%) required hospitalization, 21 (20%) required admission to the intensive care unit (ICU) and 18 (17%) required intubation. Of the 18, 4 (22%) had clinicoradiologic evidence of acute necrotizing encephalopathy (ANE) diagnosed, two with associated areas of hemorrhage.Conclusions: Acute necrotizing encephalopathy (ANE) with or without hemorrhage, is a rare CNS disease, usually seen in childhood as a complication of viral infections. We identified a high percentage of COVID-19 patients with clinicoradiologic evidence of acute necrotizing encephalopathy in our cohort. To our knowledge, ANE has not been reported in patients with SARS or MERS. Understanding the pathogenesis, neurotropism and effects of the SARS-CoV-2 virus is important in developing treatments and improving morbidity and mortality.

scholarly journals Familial neurohypophyseal diabetes insipidus in 13 kindreds and 2 novel mutations in the vasopressin gene

2019 ◽  
Vol 181 (3) ◽  
pp. 233-244 ◽  
Author(s):  
Giuseppa Patti ◽  
Saverio Scianguetta ◽  
Domenico Roberti ◽  
Alberto Di Mascio ◽  
Antonio Balsamo ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Age Of Onset ◽  
Brain Magnetic Resonance Imaging ◽  
Missense Mutations ◽  
Posterior Pituitary ◽  
Gene Encoding ◽  
Adequate Treatment ◽  
Molecular Features ◽  
Exon 1 ◽  
Magnetic Resonance Imaging Mri

Background Autosomal dominant neurohypophyseal diabetes insipidus (adNDI) is caused by arginine vasopressin (AVP) deficiency resulting from mutations in the AVP-NPII gene encoding the AVP preprohormone. Aim To describe the clinical and molecular features of Italian unrelated families with central diabetes insipidus. Patients and methods We analyzed AVP-NPII gene in 13 families in whom diabetes insipidus appeared to be segregating. Results Twenty-two patients were found to carry a pathogenic AVP-NPII gene mutation. Two novel c.173 G>C (p.Cys58Ser) and c.215 C>A (p.Ala72Glu) missense mutations and additional eight different mutations previously described were identified; nine were missense and one non-sense mutation. Most mutations (eight out of ten) occurred in the region encoding for the NPII moiety; two mutations were detected in exon 1. No mutations were found in exon 3. Median age of onset was 32.5 months with a variability within the same mutation (3 to 360 months). No clear genotype–phenotype correlation has been observed, except for the c.55 G>A (p.Ala19Thr) mutation, which led to a later onset of disease (median age 120 months). Brain magnetic resonance imaging (MRI) revealed the absence of posterior pituitary hyperintensity in 8 out of 15 subjects, hypointense signal in 4 and normal signal in 2. Follow-up MRI showed the disappearance of the posterior pituitary hyperintensity after 6 years in one case. Conclusion adNDI is a progressive disease with a variable age of onset. Molecular diagnosis and counseling should be provided to avoid unnecessary investigations and to ensure an early and adequate treatment.

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