Only a Touch of the Flu? The Simultaneous Manifestation of Acute Necrotizing Encephalopathy in Two Consanguineous Patients

Bloch, C. E.; Suter, Bernhard; Fischmann, Arne; Gensicke, Henrik; Rüegg, Stephan; Weisser, Maja

doi:10.1093/ofid/ofv013

Cited by 10 publications

(6 citation statements)

References 6 publications

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“…The same therapeutic effect has not been seen with IVIG, plasmapheresis, or antivirals , Bloch et al, 2015.…”

Section: Therapeutic Interventions and Follow-upmentioning

confidence: 85%

“…These neurologic symptoms can be associated with systemic symptoms as well (Akiyoshi et al, 2006, Mizuguchi et al, 2007. Across two studies with a total of 18 children with ANE approximately 62% were found to have Table 1 Pooled cases of ANE/ANE1 in children Study (n cases) Age Gender (F:M) Febrile illness (%) Seizure (n, %) FND (n, %) Encephalopathy (n, %) CSF (n, %) Radiologic findings (n) Singh et al, 2014Singh et al, (summary of cases 2003Singh et al, -2014 Bloch et al, 2015 (2) (Bloch et al, 2015) 10y, 40y Anand et al, 2015 (1) (Anand et al, 2015) 28 mo…”

Section: Clinical Disease Coursementioning

confidence: 99%

“…However, in ANE1, brainstem lesions are less prognostic (Neilson, 2010). Notably, other treatments including IVIG, plasmapheresis, or antivirals have not shown efficacy, although these are limited to case series level data , Bloch et al, 2015.…”

Section: Outcomes Risk-modifiers and Prognosismentioning

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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“…The same therapeutic effect has not been seen with IVIG, plasmapheresis, or antivirals , Bloch et al, 2015.…”

Section: Therapeutic Interventions and Follow-upmentioning

confidence: 85%

Section: Clinical Disease Coursementioning

confidence: 99%

See 1 more Smart Citation

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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“…RANBP2 , an autosomal dominant missense mutation of a component of the nuclear pore, has been associated with ANE manifestations in two consanguineous patients 10 and was possibly responsible for a relapsing course. 11 However, the presence of a single ANE case in the entire province in 2014 argues against the role of this mutation.…”

Section: Discussionmentioning

confidence: 99%

Influenza Virus-Associated Fatal Acute Necrotizing Encephalopathy: Role of Nonpermissive Viral Infection?

Mungaomklang

Chomcheoy

Wacharapluesadee

et al. 2016

Clin Med Insights Case Rep

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In 2014, two unusual peaks of H1N1 influenza outbreak occurred in Nakhon Ratchasima Province, in Thailand. Among 2,406 cases, one of the 22 deaths in the province included a 6-year-old boy, who initially presented with acute necrotizing encephalopathy. On the other hand, his sibling was mildly affected by the same influenza virus strain, confirmed by whole-genome sequencing, with one silent mutation. Absence of acute necrotizing encephalopathy and other neurological illnesses in the family and the whole province, with near identical whole viral genomic sequences from the two siblings, and an absence of concomitant severe lung infection (cytokine storm) at onset suggest nonpermissive infection as an alternative pathogenetic mechanism of influenza virus.

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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%

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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Only a Touch of the Flu? The Simultaneous Manifestation of Acute Necrotizing Encephalopathy in Two Consanguineous Patients

Cited by 10 publications

References 6 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

Influenza Virus-Associated Fatal Acute Necrotizing Encephalopathy: Role of Nonpermissive Viral Infection?

Acute necrotizing encephalopathy of childhood: a single-center experience

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