A encefalopatia necrosante aguda da infância é uma doença neurológica rara caracterizada por um rápido início de convulsões, um estado alterado de consciência, declínio neurológico e graus variáveis de disfunção hepática após uma infecção respiratória ou gastrointestinal (por exemplo, micoplasma, vírus influenza) em uma criança previamente saudável. A ressonância magnética cerebral dos pacientes revela lesões bilaterais, múltiplas e simétricas predominantemente observadas no tálamo e no tronco cerebral, mas também na substância branca periventricular e no cerebelo em alguns casos.
Introdução
O que você precisa saber de cara
A encefalopatia necrosante aguda da infância é uma doença neurológica rara caracterizada por um rápido início de convulsões, um estado alterado de consciência, declínio neurológico e graus variáveis de disfunção hepática após uma infecção respiratória ou gastrointestinal (por exemplo, micoplasma, vírus influenza) em uma criança previamente saudável. A ressonância magnética cerebral dos pacientes revela lesões bilaterais, múltiplas e simétricas predominantemente observadas no tálamo e no tronco cerebral, mas também na substância branca periventricular e no cerebelo em alguns casos.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
2 genes identificados com associação a esta condição. Padrão de herança: Not applicable.
E3 SUMO-protein ligase which facilitates SUMO1 and SUMO2 conjugation by UBE2I (PubMed:11792325, PubMed:12032081, PubMed:15378033, PubMed:15931224, PubMed:22194619). Involved in transport factor (Ran-GTP, karyopherin)-mediated protein import via the F-G repeat-containing domain which acts as a docking site for substrates (PubMed:7775481). Binds single-stranded RNA (in vitro) (PubMed:7775481). May bind DNA (PubMed:7775481). Component of the nuclear export pathway (PubMed:10078529). Specific dockin
NucleusNucleus membraneNucleus, nuclear pore complexNucleus envelope
Encephalopathy, acute, infection-induced, 3
A rapidly progressive encephalopathy manifesting in susceptible individuals with seizures and coma. It can occur within days in otherwise healthy children after common viral infections such as influenza and parainfluenza, without evidence of viral infection of the brain or inflammatory cell infiltration. Brain T2-weighted magnetic resonance imaging reveals characteristic symmetric lesions present in the thalami, pons and brainstem.
Involved in the intramitochondrial synthesis of acylcarnitines from accumulated acyl-CoA metabolites (PubMed:20538056, PubMed:24780397). Reconverts acylcarnitines back into the respective acyl-CoA esters that can then undergo beta-oxidation, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion. Active with medium (C8-C12) and long-chain (C14-C18) acyl-CoA esters (PubMed:20538056)
Mitochondrion inner membrane
Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced
An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation, characterized by recurrent myoglobinuria, episodes of muscle pain, stiffness, and rhabdomyolysis. These symptoms are exacerbated by prolonged exercise, fasting, cold, or viral infection. CPT2DM affects most frequently children or young adults, and severity of attacks is highly variable. Myoglobinuria can cause kidney failure and death.
Medicamentos aprovados (FDA)
2 medicamentos encontrados nos registros da FDA americana.
Variantes genéticas (ClinVar)
605 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
32 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Encefalopatia necrotizante aguda da adolescência
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Asymmetric Trilaminar Sign in a Child with Severe Cytokine Storm Due to Dengue-Associated Acute Necrotizing Encephalopathy of Childhood.
Acute Necrotizing Encephalopathy of Childhood: A Report of Two Cases.
Acute necrotizing encephalopathy of childhood (ANEC) is a rare, severe disorder in previously healthy infants and children, associated with high morbidity and mortality. Early recognition is essential for timely management. We report two pediatric cases. A three-month-old female infant presented with hypotonia, feeding refusal, and lethargy; MRI revealed bilateral, symmetrical thalamic lesions with edema. A four-year-old female developed status epilepticus following a febrile illness; imaging showed diffuse, asymmetrical cortical and subcortical lesions, including hemorrhagic changes in the thalami and brainstem. Both patients received aggressive supportive care, immunomodulation with corticosteroids, and empiric antimicrobial therapy. The second patient also required intensive management for status epilepticus. ANEC presents with nonspecific symptoms such as fever, seizures, and altered consciousness. MRI is crucial for diagnosis, demonstrating characteristic lesions that may vary in distribution and severity. Early neuroimaging, prompt supportive care, and awareness of lesion variability are essential for accurate diagnosis and optimizing outcomes in children with ANEC.
Influenza-associated Neurologic Complications in Children: Insights From a Single-center Study in Oman.
Influenza infection can lead to substantial morbidity and mortality, especially when accompanied by neurological complications. This study aims to evaluate the frequency of influenza-associated neurologic complications (IANC) in children with confirmed influenza A or B virus infections, as well as to delineate their clinical characteristics, neuroimaging findings, laboratory results, treatment protocols, outcomes and related risk factors in children. This retrospective cohort study screened all individuals under 18 years of age with influenza virus confirmed by polymerase chain reaction for IANC from January 2012 to January 2023. Only patients eligible for the diagnosis of IANC were included in the analysis. Clinical and neuroimaging data were extracted from medical records. The statistical analysis was conducted utilizing Statistical Package for the Social Sciences version 29. A total of 680 patients with positive influenza A/B viruses were included, of whom 38 (5.6%) had IANC. The IANC rate was slightly higher among females (6.2%) compared with males (5.1%) ( P = 0.616), with a median age of 4 years. Most patients (33; 86.8%) showed central nervous system complications, 4 patients (10.5%) had peripheral nervous system manifestations, and only 1 patient (1; 2%) had both systems affected. Febrile seizures were the most frequent complications in IANC cases (15/38, 39.5%), followed by influenza-related encephalopathy (10/38, 26.3%) and acute necrotizing encephalopathy of childhood (4/38, 10.5%). The mortality rate was 13.2% (5 patients). Immune comorbidities were associated with a high mortality rate among all the studied risk factors ( P = 0.005). Although uncommon, IANC poses a significant hazard to life and exhibits a high mortality rate. IANC is more prevalent in children under 5 years in our population, which indicates the importance of influenza immunization in this population.
Acute necrotizing encephalopathy of childhood with adenovirus infection.
H1N1-associated Acute Necrotizing Encephalopathy of Childhood: Successful Treatment with the "Zipper Method" and Long-Term Outcome.
Acute necrotizing encephalopathy of childhood (ANEC) is a devastating childhood disease characterized by rapid neurologic deterioration after a viral febrile illness. Seizures, encephalopathy, and fatal acute necrotizing encephalopathy are well-defined neurologic complications of H1N1 virus infections. Symmetrical, multifocal lesions on cranial magnetic resonance imaging (MRI) are the best-known features of ANEC. Various treatment options include glucocorticoids, intravenous immunoglobulin (IVIG), and plasma exchange (PEX). Herein, we present a 45-month-old girl diagnosed with ANEC and treated with a novel immunomodulation technique, the "zipper method." It is a combined treatment method in which PEX and IVIG treatments are used together. In the first session of plasma exchange, one and a half volumes of patients' plasma were removed using 5% albumin as a replacement solution. At the end of the PEX session, 0.4 g/kg IVIG infusion was started. The second PEX session was applied with one volume 24 hours after the end of the IVIG infusion. This plasma exchange-intravenous immunoglobulin cycle was repeated five times. Furthermore, this case report presents her outcome 3-years after discharge: full recovery. This case is a unique example of ANEC treated successfully with the zipper method.
Publicações recentes
Acute Necrotizing Encephalopathy of Childhood: A Report of Two Cases.
Acute necrotizing encephalopathy of childhood with adenovirus infection.
Asymmetric Trilaminar Sign in a Child with Severe Cytokine Storm Due to Dengue-Associated Acute Necrotizing Encephalopathy of Childhood.
Influenza-associated Neurologic Complications in Children: Insights From a Single-center Study in Oman.
H1N1-associated Acute Necrotizing Encephalopathy of Childhood: Successful Treatment with the "Zipper Method" and Long-Term Outcome.
📚 EuropePMC59 artigos no totalmostrando 51
Acute Necrotizing Encephalopathy of Childhood: A Report of Two Cases.
CureusAcute necrotizing encephalopathy of childhood with adenovirus infection.
Anales de pediatriaAsymmetric Trilaminar Sign in a Child with Severe Cytokine Storm Due to Dengue-Associated Acute Necrotizing Encephalopathy of Childhood.
Indian journal of pediatricsInfluenza-associated Neurologic Complications in Children: Insights From a Single-center Study in Oman.
The Pediatric infectious disease journalH1N1-associated Acute Necrotizing Encephalopathy of Childhood: Successful Treatment with the "Zipper Method" and Long-Term Outcome.
Iranian journal of child neurologyClinical Profile, Intensive Care Needs, and Short-Term Outcome of Acute Necrotizing Encephalopathy of Childhood: A Retrospective Study From a Tertiary Care Hospital in North India.
Pediatric neurologyThe Spectrum of Influenza-Associated Acute Necrotizing Encephalopathy of Childhood: A Case Series.
Pediatric neurologyAcute Necrotizing Encephalopathy in Children: Insights and Outcomes from Iran.
Iranian journal of child neurologyChild Neurology: Acute Necrotizing Encephalopathy of Childhood Associated With Dengue: Good Neurologic Outcome Despite a Fulminant Presentation.
NeurologyClinical prognostication in acute necrotizing encephalopathy of childhood: the role of magnetic resonance imaging severity assessment.
Pediatric radiologyAcute Necrotizing Encephalopathy of Childhood (ANEC) in a Patient with Dengue and Leptospirosis.
Neurology IndiaA Rare Case of Acute Necrotizing Encephalopathy of Childhood: A Case Report.
CureusA Young Girl with Acute Encephalopathy Who Presented with Status Epilepticus Following a Flu-Like Illness.
The American journal of case reportsCerebral Necrotizing Encephalopathy in a 7-year-old Child after being Infected with COVID-19, A Case Report.
Iranian journal of child neurologyClinical characteristics and prognostic analysis of acute necrotizing encephalopathy of childhood: a retrospective study at a single center in China over 3 years.
Frontiers in neurologyCOVID-19-Associated Acute Necrotizing Encephalopathy: A Case Report.
Iranian journal of child neurologyPlasmapheresis in Acute Necrotizing Encephalopathy of Childhood Secondary to Dengue.
Indian journal of pediatricsAcute necrotizing encephalopathy of childhood from Eastern Africa.
Clinical case reportsAcute Necrotizing Encephalopathy of Childhood Associated with Human Metapneumovirus.
Indian journal of pediatricsRecurrent Familial Acute Necrotizing Encephalopathy of Childhood (ANEC).
Indian journal of pediatricsAcute necrotizing encephalopathy of childhood: Prevention is better than cure especially if the cure remains elusive.
Developmental medicine and child neurologyTreatment of severe acute necrotizing encephalopathy of childhood with interleukin-6 receptor blockade in the first 24 h as add-on immunotherapy shows favorable long-term outcome at 2 years.
Brain & developmentDifferent dosages of methylprednisolone therapy for acute necrotizing encephalopathy of childhood: a 6-year multicenter retrospective study.
Chinese medical journalSARS-CoV-2-Related Acute Necrotizing Encephalopathy of Childhood With Good Response to Tocilizumab in an Adolescent.
Pediatric neurologyPositive Impact of Inpatient Respiratory Rehabilitation in a Rare Case of Acute Necrotizing Encephalopathy.
CureusFever, Seizures and Encephalopathy: From Bush Fires to Firestorms.
Annals of Indian Academy of NeurologyDifficulties in Diagnosis Acute Necrotizing Encephalopathy of Childhood: A Case Report.
Child neurology openSystematic studies in acute necrotizing encephalopathy of childhood: The way forward.
Developmental medicine and child neurologyOutcomes in influenza and RANBP2 mutation-associated acute necrotizing encephalopathy of childhood.
Developmental medicine and child neurologyAcute Necrotizing Encephalopathy of Childhood: A Rare Neurological Manifestation of Dengue.
Annals of Indian Academy of NeurologyAssociation of acute disseminated encephalomyelitis (ADEM) and COVID-19 in a pediatric patient.
Free neuropathologyPlasma exchange therapy for acute necrotizing encephalopathy of childhood.
Pediatric investigationThe Clinical and Imaging Characteristics Associated With Neurological Sequelae of Pediatric Patients With Acute Necrotizing Encephalopathy.
Frontiers in pediatrics[Influenza A-associated acute necrotizing encephalopathy].
Revista chilena de pediatriaAcute necrotizing encephalopathy of childhood: a single-center experience.
Turkish journal of medical sciencesAcute Necrotizing Encephalopathy of Childhood: A Multicenter Experience in Saudi Arabia.
Frontiers in pediatricsRANBP2 susceptibility to infection-induced encephalopathy: Clinicoradiologic and molecular description in a Malaysian family.
Molecular genetics and metabolism reportsAcute Necrotizing Encephalopathy of Childhood with H1N1 Infection.
Journal of pediatric intensive carePresentation and Outcome of Acute Necrotizing Encephalopathy of Childhood: A 10-Year Single-Center Retrospective Study From Hong Kong.
Journal of child neurologyNeurological Manifestations of Influenza A (H1N1): Clinical Features, Intensive Care Needs, and Outcome.
Indian journal of pediatricsThree Cases of Acute Necrotizing Encephalopathy: Is It an Epidemic or Only Incidental?
Iranian journal of child neurologyAcute Necrotizing Encephalopathy of Childhood Associated with Human Parvovirus B19 Infection.
Indian journal of pediatricsA Rare Case Report of Acute Necrotizing Encephalopathy of Childhood.
Iranian journal of child neurologyFavorable Outcomes With Early Interleukin 6 Receptor Blockade in Severe Acute Necrotizing Encephalopathy of Childhood.
Pediatric neurologyAcute necrotizing encephalopathy of childhood.
Neurology IndiaAcute necrotizing encephalopathy of childhood associated with human herpes virus 6 in Croatia.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyTeaching NeuroImages: Acute necrotizing encephalopathy of childhood: Neuroimaging findings.
NeurologyAcute Necrotizing Encephalopathy of Childhood Secondary to Dengue Infection: A Case Report from Pakistan.
Journal of pediatric neurosciencesAcute Necrotizing Encephalopathy of Childhood (ANEC): A Case Report.
Iranian journal of child neurologyBrain damage resembling acute necrotizing encephalopathy as a specific manifestation of haemophagocytic lymphohistiocytosis - induced by hypersensitivity.
Italian journal of pediatricsInfluenza B-associated acute necrotizing encephalopathy of childhood: a report from North America.
Acta neurologica BelgicaAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Asymmetric Trilaminar Sign in a Child with Severe Cytokine Storm Due to Dengue-Associated Acute Necrotizing Encephalopathy of Childhood.
- Acute Necrotizing Encephalopathy of Childhood: A Report of Two Cases.
- Influenza-associated Neurologic Complications in Children: Insights From a Single-center Study in Oman.
- Acute necrotizing encephalopathy of childhood with adenovirus infection.
- H1N1-associated Acute Necrotizing Encephalopathy of Childhood: Successful Treatment with the "Zipper Method" and Long-Term Outcome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:263524(Orphanet)
- MONDO:0016991(MONDO)
- GARD:17257(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55857987(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
