Steroids for familial acute necrotizing encephalopathy: A future investment?

Soriano-Ramos, María; Navarro-Abia, Virginia; Enamorado, Noemí Núñez; Camacho-Salas, Ana; Aragón, Ana Martínez de; Garcia‐Hoyos, Maria; Heras, Rogelio Simón de las

doi:10.1016/j.clineuro.2018.09.014

Cited by 6 publications

(6 citation statements)

References 5 publications

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“…Additional neurodiagnostic studies are of limited utility in ANE1. Legend: EP: elevated CSF protein; Pl: pleocytosis in CSF EEG done in these patients has shown patterns classic of diffuse cerebral dysfunction with global slowing although asymmetry based on lesion location can be observed (Soriano-Ramos et al, 2018, Marco et al, 2010. CSF studies in patients with ANE1 have been reported to demonstrate elevated CSF protein in the absence of pleocytosis in as many as 94% of patients (Singh et al, 2015, Neilson, 2010, Wu et al, 2015.…”

Section: Neurodiagnostic Studiesmentioning

confidence: 99%

“…A mutation in RANBP2 engenders a predisposition to ANE1, but becoming symptomatic requires an environmental trigger, which is often a febrile viral infection. Several viruses have been implicated in ANE1 including influenza A and B, parainfluenza, varicella, HHV6, HHV7, enterovirus, rotavirus, HSV, rubella, coxsackievirus A9, measles, with influenza A being most common (Neilson et al, 2009, Soriano-Ramos et al, 2018, Skelton et al, 2008, Tran et al, 2001, Sugaya, 2002, Sazgar et al, 2003, Oki et al, 1995, Ohsaka et al, 2006, Mastroyianni et al, 2003, Martin and Reade, 2010, Mariotti et al, 2010, Lyon et al, 2010, Huang et al, 2004. Recently, SARS-CoV2 (also referred to as COVID-19) has been associated with the onset of ANE, adding to the existing literature of viral trigger phenomenon observed in the disease (Poyiadji et al, 2020).…”

Section: Immune Dysregulation and Antigenic Responsementioning

confidence: 99%

“…While it has not been rigorously studied, several case reports recommend continuing annual flu vaccination in these patients to limit future viral infections and have not seen any deleterious effects of the vaccine itself (Singh et al, 2015, Neilson et al, 2014, Soriano-Ramos et al, 2018, Kelly et al, 2019, McSwiney et al, 2014, Howard et al, 2018. However, avoidance of cellular pertussis in the DTaP immunization, which may hypothetically increase susceptibility to relapse, has been raised before although never studied in any scientific manner (Neilson et al, 2014).…”

Section: Therapeutic Interventions and Follow-upmentioning

confidence: 99%

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Genetic Acute Necrotizing Encephalopathy Associated with RANBP2: Clinical and Therapeutic Implications in Pediatrics

Levine

Ahsan

et al. 2020

Multiple Sclerosis and Related Disorders

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Genetic (also known as familial) acute necrotizing encephalopathy (ANE1) is a rare disease presenting with encephalopathy often following preceding viral febrile illness in patients with a genetic predisposition resulting from a missense mutation in the gene encoding RAN Binding Protein 2 (RANBP2). The acute episode is characterized by deterioration in consciousness, often with focal neurologic deficits and seizures. Additionally, symmetric multifocal brain lesions are seen in the bilateral thalami as well as other characteristic regions, involving both gray and white matter. Prognosis is variable, with a high mortality rate and most surviving patients having persistent neurologic deficits. Early treatment with high dose steroids is associated with a more favorable outcome, however the diagnosis is often overlooked resulting in delayed treatment. The RANBP2 mutation associated with ANE1 causes an incompletely penetrant predisposition to encephalopathy in the setting of febrile illness through a mechanism that remains elusive. There are several non-mutually exclusive hypotheses suggesting possible etiologies for this phenotype based on the many functions of RANBP2 within the cell. These include dysfunctions in nucleocytoplasmic trafficking and intracellular metabolic regulation, as well as cytokine storm, and abnormal distribution of mitochondria. This narrative review explores these key concepts of the RANBP2 mutation and its clinical and therapeutic implications in pediatric populations.

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Section: Neurodiagnostic Studiesmentioning

confidence: 99%

Section: Immune Dysregulation and Antigenic Responsementioning

confidence: 99%

Section: Therapeutic Interventions and Follow-upmentioning

confidence: 99%

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Genetic Acute Necrotizing Encephalopathy Associated with RANBP2: Clinical and Therapeutic Implications in Pediatrics

Levine

Ahsan

et al. 2020

Multiple Sclerosis and Related Disorders

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“…One study reported that ANEC was seen in 4% of 983 children with acute encephalopathy [9]. Although etiology is not fully elucidated, viral or bacterial infections trigger hypercytokinaemia, which is responsible for the disease's pathogenesis [2,13,[15][16][17][18]. The prodromal phase has a heterogeneous clinic in the form of the encephalopathy recovery phase.…”

Section: Discussionmentioning

confidence: 99%

“…A quick evaluation of the anamnesis, examination, radiological, blood and CSF findings is critical in initiating immunotherapy as soon as possible, preferably within 24 h [17,19]. However, there is no consensus yet on standard treatment guidelines.…”

Section: Discussionmentioning

confidence: 99%

Acute necrotizing encephalopathy of childhood: a single-center experience

Aksoy¹,

Öztoprak²,

Çelik³

et al. 2021

Turk J Med Sci

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Background/aim: Acute necrotizing encephalopathy is a rare type of acute encephalopathy characterized by multi-ocal brain lesions and associated severe neurological findings and various organ dysfunctions may accompany it. Materials and Methods: Patients with acute necrotizing encephalopathy of childhood diagnosed by pediatric neurology and pediatric intensive care at Sami Ulus Maternity, Child Health and Diseases Training and Research Hospital between 2007 and 2020 were included in this study. Results: Nine patients (six females, three males) with a mean age of 4.05 ± 1.94 years (age range 1-6.5) were included in this study. The interval range between fever and encephalopathy in patients was 1-4 days. Influenza A (3H1N1, one untyped) was detected in four patients, influenza B in three patients, and no cause was found in two patients. Major clinical findings other than febrile encephalopathy in all patients were a hemodynamic shock in seven patients, seizures in six patients, vomiting in five patients, dystonia in three patients, and flaccid paralysis in the upper extremity in one patient. Despite all our treatment approaches, including plasmapheresis, moderate to severe neurological sequelae was observed in all of our patients, who survived even with significant radiological improvement. Three patients for whom we could not perform plasmapheresis died. Conclusion:Our study revealed that thalamic involvement increased as the interval shortened, and brainstem involvement increased in patients over four years of age. The presence of persistent vomiting accompanying encephalopathy during the parainfectious period and plasmapheresis treatment being a treatment option that could prevent mortality were cautionary for our study.

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Severe Neurological Complications With Influenza in Vietnamese Children

Nguyen,

Ngo,

Nguyen

et al. 2024

Influenza Resp Viruses

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BackgroundInfluenza is a common contagious respiratory virus that primarily causes respiratory tract infections. Neurological complications associated with influenza have also been reported, mainly in pediatric populations, and may be fatal.MethodsA descriptive study evaluated pediatric patients who were diagnosed with severe influenza‐associated neurological complications at the Tropical Pediatrics Center—Vietnam National Children's Hospital from October 2022 to February 2024.ResultsIn this study involving 20 patients, 80% of children were under 5 years old; 70% of patients had a history of good health. All patients had not received an influenza vaccination within 12 months. The median time from onset to neurological symptoms was 1 day. The most common neurological complication was encephalitis (16/20 patients) with symptoms included altered consciousness and seizures. Most patients had elevated levels of ALT (60%), AST (90%), LDH (94%), and ferritin (69%) in serum. The imaging of brain damage on MRI and CT scans varied in patterns and locations. There was no difference in the timing of methylprednisolone treatment within and after 48 h. The mortality rate was 20%, with 45% of patients experiencing severe sequelae.ConclusionsIANCs are severe with damage to both white matter and central gray matter and can occur in healthy children, emphasizing the importance of vaccination to reduce the risk.

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Steroids for familial acute necrotizing encephalopathy: A future investment?

Cited by 6 publications

References 5 publications

Genetic Acute Necrotizing Encephalopathy Associated with RANBP2: Clinical and Therapeutic Implications in Pediatrics

Genetic Acute Necrotizing Encephalopathy Associated with RANBP2: Clinical and Therapeutic Implications in Pediatrics

Acute necrotizing encephalopathy of childhood: a single-center experience

Severe Neurological Complications With Influenza in Vietnamese Children

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