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Encefalopatia aguda com convulsões bifásicas e redução da difusão tardia
ORPHA:363549CID-10 · G40.4DOENÇA RARA

A encefalopatia aguda com crises bifásicas e difusão tardia reduzida (AESD) é uma síndrome epiléptica rara de início na infância associada a infecção e caracterizada por um curso clínico bifásico. O sintoma inicial é uma convulsão febril prolongada no primeiro dia (a primeira fase). Posteriormente, os pacientes apresentam níveis variáveis ​​de consciência, do normal ao coma. Independentemente dos níveis de consciência, a ressonância magnética (RM) durante os primeiros 2 dias não mostra anormalidades. Durante a segunda fase (geralmente dos dias 4 a 6), os pacientes apresentam um conjunto de convulsões e deterioração da consciência. Imagens ponderadas em difusão (DWI) na ressonância magnética revelam lesões cerebrais com difusão reduzida predominantemente na substância branca subcortical. Após a segunda fase aguda, os níveis de consciência melhoram com o aparecimento de sinais neurológicos focais. Os resultados neurológicos da AESD variam de normais a sequelas leves ou graves, incluindo atrofia cerebral, retardo mental, paralisia e epilepsia.

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Introdução

O que você precisa saber de cara

📋

A encefalopatia aguda com crises bifásicas e difusão tardia reduzida (AESD) é uma síndrome epiléptica rara de início na infância associada a infecção e caracterizada por um curso clínico bifásico. O sintoma inicial é uma convulsão febril prolongada no primeiro dia (a primeira fase). Posteriormente, os pacientes apresentam níveis variáveis ​​de consciência, do normal ao coma. Independentemente dos níveis de consciência, a ressonância magnética (RM) durante os primeiros 2 dias não mostra anormalidades. Durante a segunda fase (geralmente dos dias 4 a 6), os pacientes apresentam um conjunto de convulsões e deterioração da consciência. Imagens ponderadas em difusão (DWI) na ressonância magnética revelam lesões cerebrais com difusão reduzida predominantemente na substância branca subcortical. Após a segunda fase aguda, os níveis de consciência melhoram com o aparecimento de sinais neurológicos focais. Os resultados neurológicos da AESD variam de normais a sequelas leves ou graves, incluindo atrofia cerebral, retardo mental, paralisia e epilepsia.

Publicações científicas
164 artigos
Último publicado: 2026 Mar

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
283
pacientes catalogados
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: G40.4
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (2)
0202010694
Sequenciamento completo do exoma (WES)genetic_test
0301070040
Atendimento em reabilitação — doenças rarasrehabilitation
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧠
Neurológico
7 sintomas
🛡️
Imunológico
1 sintomas
❤️
Coração
1 sintomas
👁️
Olhos
1 sintomas

+ 2 sintomas em outras categorias

Características mais comuns

90%prev.
Crise tônico-clônica bilateral
Muito frequente (99-80%)
55%prev.
Crise convulsiva em cluster
55%prev.
Infecção viral grave
Frequente (79-30%)
55%prev.
Aumento da concentração circulante de procalcitonina
Frequente (79-30%)
55%prev.
Convulsão febril complexa
Frequente (79-30%)
55%prev.
Perda de consciência
Frequente (79-30%)
12sintomas
Muito frequente (1)
Frequente (8)
Ocasional (2)
Muito raro (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 12 características clínicas mais associadas, ordenadas por frequência.

Crise tônico-clônica bilateralBilateral tonic-clonic seizure
Muito frequente (99-80%)90%
Crise convulsiva em clusterSeizure cluster
Frequente55%
Infecção viral graveSevere viral infection
Frequente (79-30%)55%
Aumento da concentração circulante de procalcitoninaIncreased circulating procalcitonin concentration
Frequente (79-30%)55%
Convulsão febril complexaComplex febrile seizure
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico164PubMed
Últimos 10 anos127publicações
Pico202015 papers
Linha do tempo
2026Hoje · 2026📈 2020Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição.

ADORA2AAdenosine receptor A2aMajor susceptibility factor inTolerante
FUNÇÃO

Receptor for adenosine (By similarity). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase (By similarity)

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (3)
G alpha (s) signalling eventsSurfactant metabolismAdenosine P1 receptors
OUTRAS DOENÇAS (1)
acute encephalopathy with biphasic seizures and late reduced diffusion
HGNC:263UniProt:P29274

Variantes genéticas (ClinVar)

55 variantes patogênicas registradas no ClinVar.

🧬 ADORA2A: GRCh37/hg19 22q11.23(chr22:23652549-25002659)x3 ()
🧬 ADORA2A: GRCh37/hg19 22q11.23(chr22:23690388-25066472)x3 ()
🧬 ADORA2A: GRCh37/hg19 22q11.22-11.23(chr22:22989453-25019883)x3 ()
🧬 ADORA2A: GRCh37/hg19 22q11.23(chr22:23658260-25114888)x3 ()
🧬 ADORA2A: GRCh37/hg19 22q11.22-11.23(chr22:22953515-24995256)x3 ()
Ver todas no ClinVar

Vias biológicas (Reactome)

4 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Encefalopatia aguda com convulsões bifásicas e redução da difusão tardia

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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.

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Publicações mais relevantes

Timeline de publicações
127 papers (10 anos)
#1

Arterial spin labeling reveals cerebral perfusion changes associated with involuntary movements in acute encephalopathy with biphasic seizures and late reduced diffusion: A case report.

Brain &amp; development2026 Apr

Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is characterized by a biphasic seizure pattern with distinct neuroimaging findings. While involuntary movements during the recovery phase may be a marker of an unfavorable neurological outcome, their relationship with cerebral perfusion changes remains poorly understood. Arterial spin labeling (ASL) is a non-invasive method of assessing changes in perfusion without using contrast agents that can provide valuable insight into the pathophysiology of the disease. We report herein the first case of AESD demonstrating a correlation between involuntary movements and concurrent abnormalities of cerebral perfusion on ASL. A 13-month-old female patient was admitted for fever and status epilepticus. Magnetic resonance imaging (MRI) on day of illness (DOI) 6 revealed frontal lobe diffusion restriction on diffusion-weighted imaging (DWI) and hyperperfusion on ASL. 1H-MR spectroscopy demonstrated metabolic changes consistent with excitotoxic encephalopathy. By DOI 20, myoclonic movements and ballism had developed, and ASL demonstrated a characteristic pattern of frontal hypoperfusion concurrent with basal ganglia hyperperfusion. The involuntary movements resolved over two months. Follow-up MRI performed 8 months after initial presentation revealed recovery of brain volume and improvement in perfusion abnormalities of the basal ganglia. At the age of 5 years, the patient demonstrated mild developmental delay with well-controlled epilepsy. The perfusion abnormalities detected on ASL correlated with the involuntary movements of AESD, which suggests dysregulation of cerebral autoregulation propagation via cortico-basal ganglia circuits. ASL can provide valuable insight into the pathophysiology of AESD and may facilitate assessment of prognosis and therapeutic decision-making by enabling real-time monitoring of changes in cerebral perfusion during the recovery phase.

#2

Analysis of prognostic factors in acute encephalopathy with biphasic seizures and late reduced diffusion: a retrospective study on MRI findings and the treatments.

Journal of the neurological sciences2026 Mar 15

Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a subtype of acute encephalopathy diagnosed based on its characteristic clinical course and imaging findings. However, AESD presents with various symptoms and diverse neurological outcomes. We aimed to identify prognostic factors for AESD by analyzing clinical data. This retrospective study included patients diagnosed with AESD at our institution between 1997 and 2015. 57 patients (29 male and 28 female) were included for analysis, with a median age at onset of 13 months (interquartile range: 11-22 months). Short-term outcome was defined as neurological status at 6 months post-onset, and long-term outcome as status at more than 2 years post-onset. Patients were categorized into favorable (Pediatric Cerebral Performance Category [PCPC] 1-2) and unfavorable (PCPC 3-6) outcome groups. We reviewed the clinical course, laboratory data (blood and cerebrospinal fluid during the early and late seizure phases), magnetic resonance imaging (MRI) findings, and treatment interventions. Univariate and multivariate logistic regression analyses were conducted to identify prognostic factors (p < 0.05 was considered statistically significant). In the multivariate analysis, extensive MRI lesions were significantly associated with poor short-term outcomes (p = 0.009, odds ratio [OR] 8.333), while edaravone use was significantly associated with favorable long-term outcomes (p = 0.007, OR 0.105). The extent of MRI lesions predicted short-term outcomes, while edaravone administration was associated with improved long-term outcomes in patients with AESD.

#3

Proteomic Analysis of Serum and Cerebrospinal Fluid in Children with Encephalopathy Associated with Human Betaherpesvirus 6B.

Open forum infectious diseases2026 Mar

Exanthem subitum (ES), a benign febrile exanthematous disease, is caused by primary human betaherpesvirus 6B (HHV-6B) infection. It may cause neurological complications, including complex febrile seizures (cFS), acute encephalopathy with biphasic seizures, and late reduced diffusion (AESD). cFS resolves spontaneously; however, AESD can pose severe sequelae. We aimed to elucidate AESD pathogenesis using a proteomic analysis. Using liquid chromatography-tandem mass spectrometry (LC-MS/MS), serum and cerebrospinal fluid (CSF) protein profiles were compared between patients with AESD and those with cFS (n = 3 or 4 per group). Metascape was used for enrichment analysis, and the selected proteins were validated using a large sample via enzyme-linked immunosorbent assay (ELISA). A total of 698 proteins were identified across all serum and CSF samples using LC-MS/MS. Nineteen serum proteins were differentially expressed in AESD and cFS during the acute phase. The glycolytic pathway was upregulated in AESD. Myristoylated alanine-rich C kinase substrate (MARCKS) and Golgi membrane protein 1 (GOLM1) were selected for validation using ELISA. Both proteins were upregulated during the acute phase (n = 11) compared with the convalescent phase (n = 21) in AESD (MARCKS, P = .016; GOLM1, P < .001). MARCKS during the acute phase was also upregulated in AESD compared with that in uncomplicated ES (n = 15) (P = .015). In CSF, 38 proteins were differentially expressed between AESD and cFS during the acute phase. Cholesteryl ester transfer protein in the CSF of patients with AESD was upregulated; however, this could not be validated using ELISA. Glycolysis and MARCKS pathways might be involved in HHV-6B-associated AESD pathogenesis.

#4

A Case of HNRNPU-Related Neurodevelopmental Disorder Presenting With Acute Encephalopathy and Basal Ganglia Lesions.

Congenital anomalies2026

We report a case in which a girl diagnosed with HNRNPU-associated neurodevelopmental disorder presented with acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) and generalized hypotonia accompanied by chorea-like involuntary movements. On the first day of hospitalization, she presented with fever and generalized clonic seizures. Twenty four hours later, she continued to experience impaired consciousness and generalized hypotonia. Her consciousness improved gradually, but chorea-like involuntary movements of the limbs were observed. From the seventh day of hospitalization, the patient repeatedly experienced difficulty in making eye contact for 20-30 s for 2-3 days. Brain MRI with diffusion-weighted imaging revealed hyperintensity from the bilateral frontal cortex to subcortical white matter and the bilateral caudate nuclei. This patient presented with chorea-like involuntary movements and generalized hypotonia, and was unable to perform antigravity movements. HNRNPU-related neurodevelopmental disorders often present with congenital hypotonia. When affected children develop acute encephalopathy associated with basal ganglia lesions, the synergistic effect of these conditions may exacerbate the hypotonia.

#5

Infection-triggered encephalopathy syndrome in children: a neuroimaging perspective.

Pediatric radiology2026 Feb 12

Infection-triggered encephalopathy syndrome is a group of acute encephalopathies that develop in temporal association with febrile illnesses. Unlike infectious or autoimmune encephalitis, direct viral invasion or antibody-mediated pathology is usually absent. Instead, excitotoxicity and cytokine storm are considered key mechanisms. The core diagnostic criteria include a preceding febrile illness, presence of neurological symptoms (encephalopathy, seizures), and, most importantly, syndrome-specific magnetic resonance imaging findings. Therefore, neuroimaging is indispensable for confirming infection-triggered encephalopathy syndromes and differentiating them from infectious encephalitis, metabolic disorders, and other acute encephalopathies. Characteristic radiological features-such as the bright tree appearance in acute encephalopathy with biphasic seizures and late reduced diffusion, bithalamic involvement in acute necrotizing encephalopathy, and reversible splenial lesions in mild encephalopathy with reversible splenial lesions-are essential for diagnostic classification and prognostication. Pediatric radiologists must be familiar with these patterns to ensure early recognition and appropriate diagnosis. This review aimed to present the epidemiology, clinical characteristics, and neuroimaging features of infection-triggered encephalopathy syndromes, emphasizing the critical role of magnetic resonance imaging findings in diagnostic criteria.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC93 artigos no totalmostrando 126

2026

Proteomic Analysis of Serum and Cerebrospinal Fluid in Children with Encephalopathy Associated with Human Betaherpesvirus 6B.

Open forum infectious diseases
2026

A Case of HNRNPU-Related Neurodevelopmental Disorder Presenting With Acute Encephalopathy and Basal Ganglia Lesions.

Congenital anomalies
2026

Arterial spin labeling reveals cerebral perfusion changes associated with involuntary movements in acute encephalopathy with biphasic seizures and late reduced diffusion: A case report.

Brain &amp; development
2026

Infection-triggered encephalopathy syndrome in children: a neuroimaging perspective.

Pediatric radiology
2026

Analysis of prognostic factors in acute encephalopathy with biphasic seizures and late reduced diffusion: a retrospective study on MRI findings and the treatments.

Journal of the neurological sciences
2025

Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD): a scoping review.

Pediatric research
2025

Automated differentiation of acute encephalopathy with biphasic seizures and late reduced diffusion and prolonged febrile seizures in acute phase.

Scientific reports
2025

Glutamate in cerebrospinal fluid as a diagnostic marker for acute encephalopathy in childhood.

Brain &amp; development
2025

AESD and vitamin therapy: The need for biomarkers and follow-up.

Brain &amp; development
2025

Clinical characteristics of infantile traumatic brain injury with a biphasic clinical course and late reduced diffusion among pediatric patients with traumatic brain injury.

Surgical neurology international
2025

Three cases of acute encephalopathy with biphasic seizures and late reduced diffusion predominantly manifesting generalized involuntary movements in the chronic phase.

Brain &amp; development
2025

Effect of vitamin administration on the prevention of acute encephalopathy with biphasic seizures and late reduced diffusion.

Brain &amp; development
2025

Post-encephalitic epilepsy in patients with acute encephalopathy with biphasic seizures and late reduced diffusion.

Frontiers in neurology
2025

National study on pediatric acute encephalopathy in Japan (April 2020 to October 2023): Insights from the third study.

Brain &amp; development
2025

Radiological Insights into Acute Leukoencephalopathy with Restricted Diffusion: A Case Series Analysis.

The Indian journal of radiology &amp; imaging
2025

Early-phase EEG power spectrum analysis may differentiate acute encephalopathy with biphasic seizures and late reduced diffusion from prolonged febrile seizures.

Epilepsy research
2025

Epidemiology and treatment trends for acute encephalopathy under the impact of SARS-CoV-2 pandemic based on a prospective multicenter consecutive case registry.

Journal of the neurological sciences
2025

Acute Encephalopathy With Biphasic Seizures and Late Reduced Diffusion in a Child With Severe COVID-19.

Pediatric neurology
2025

Evaluating the late seizures of acute encephalopathy with biphasic seizures and late reduced diffusion via monitoring using continuous electroencephalogram.

Epilepsy research
2024

A case of acute encephalopathy with hyperperfusion detected by arterial spin labelling: Extending spectrum of acute encephalopathy with biphasic seizures and late reduced diffusion.

Brain &amp; development
2024

Efficacy of a mitochondrial drug cocktail in preventing acute encephalopathy with biphasic seizures and late reduced diffusion.

Journal of the neurological sciences
2024

Pathomechanism of infantile traumatic brain injury with a biphasic clinical course and late reduced diffusion evaluated by MR spectroscopy.

Journal of the neurological sciences
2025

International consensus definitions for infection-triggered encephalopathy syndromes.

Developmental medicine and child neurology
2024

Epileptic foci and networks in children with epilepsy after acute encephalopathy with biphasic seizures and late reduced diffusion.

Brain &amp; development
2024

Clinical characteristics and prognosis of paediatric respiratory syncytial virus-related encephalopathy.

Italian journal of pediatrics
2024

Underlying Disorders in Children With Infection-Related Acute Encephalopathy.

Pediatric neurology
2024

Acute encephalopathy with biphasic seizures and late reduced diffusion with concurrent transverse myelitis.

Epileptic disorders : international epilepsy journal with videotape
2024

Factors influencing the development of infantile traumatic brain injury with a biphasic clinical course and late reduced diffusion.

Journal of the neurological sciences
2024

Risk factors for post-encephalopathic epilepsy in patients with acute encephalopathy with biphasic seizures and late reduced diffusion.

Brain &amp; development
2024

Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion following SARS-CoV-2 Infection-A Rare Case Report.

The Indian journal of radiology &amp; imaging
2023

Restricted Diffusion in the Bilateral Subcortical Motor Areas Associated with Status Epilepticus in an Infant with Kawasaki Disease.

Yonago acta medica
2023

[Clinical and imaging features of acute encephalopathy with biphasic seizures and late reduced diffusion in children].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2024

A nationwide survey of adenovirus-associated encephalitis/encephalopathy in Japan.

Brain &amp; development
2023

Case report: Influenza A virus and Human herpesvirus 1 infection-associated acute encephalopathy in children with the mutations in the SLC25A19 andTICAM1 gene, respectively.

IDCases
2023

Arterial spin labeling image findings in the acute phase in paediatric patients with acute encephalopathy with biphasic seizures and late reduced diffusion.

Frontiers in neuroscience
2023

Timing of therapeutic interventions against infection-triggered encephalopathy syndrome: a scoping review of the pediatric literature.

Frontiers in neuroscience
2023

Neuroimaging in acute infection-triggered encephalopathy syndromes.

Frontiers in neuroscience
2023

Infantile Hypoxic Encephalopathy Mimicking Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion (AESD) Identified as an Episode of Brief Resolved Unexplained Event (BRUE).

Journal of clinical medicine
2023

Risk Factors of Prehospital Emergency Care for Acute Encephalopathy in Children With Febrile Status Epilepticus.

Pediatric neurology
2023

A serial analysis of serum aspartate aminotransferase levels in patients with acute encephalopathy with biphasic seizures and late reduced diffusion and prolonged febrile seizure.

Brain &amp; development
2023

[Clinical characteristics and short-term prognosis of 22 cases with SARS-CoV-2 infection associated acute encephalopathy].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2023

Severe pediatric acute encephalopathy syndromes related to SARS-CoV-2.

Frontiers in neuroscience
2023

A nationwide survey of human metapneumovirus-associated encephalitis/encephalopathy in Japan.

Brain &amp; development
2022

Early Phase Increase in Serum TIMP-1 in Patients with Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion.

Children (Basel, Switzerland)
2022

Cerebral blood flow abnormalities with central sparing on arterial spin labeling in mild encephalopathy associated with excitotoxicity: a case report.

BMC neurology
2022

Multiple encephalopathy syndrome: a case of a novel radiological subtype of acute encephalopathy in childhood.

European review for medical and pharmacological sciences
2022

Refractory status epilepticus with fever due to mumps vaccine-induced encephalitis caused secondary encephalopathy mimicking acute encephalopathy with biphasic seizures and late reduced diffusion.

Brain &amp; development
2023

An infantile traumatic brain injury with a bright tree appearance detected before the late seizure.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2022

Association of IL-1B rs16944 Polymorphism With Acute Encephalopathy With Biphasic Seizures and Late Reduced Diffusion Is Opposite to That of Febrile Seizures.

Frontiers in neurology
2022

Protective association of HLA-DPB1*04:01:01 with acute encephalopathy with biphasic seizures and late reduced diffusion identified by HLA imputation.

Genes and immunity
2022

Unusual presentation of acute encephalopathy with biphasic seizures and late reduced diffusion in Miller-Dieker syndrome.

BMJ case reports
2022

Rotavirus infection-associated central nervous system complications: clinicoradiological features and potential mechanisms.

Clinical and experimental pediatrics
2022

GWAS identifies candidate susceptibility loci and microRNA biomarkers for acute encephalopathy with biphasic seizures and late reduced diffusion.

Scientific reports
2022

Acute encephalopathy with biphasic seizures and late reduced diffusion: Predictive EEG findings.

Brain &amp; development
2021

Predicting the Onset of Acute Encephalopathy With Biphasic Seizures and Late Reduced Diffusion by Using Early Laboratory Data.

Frontiers in neurology
2022

Growth and differentiation factor-15 as a potential prognostic biomarker for status-epilepticus-associated-with-fever: A pilot study.

Brain &amp; development
2022

Involuntary movements as a prognostic factor for acute encephalopathy with biphasic seizures and late reduced diffusion.

Brain &amp; development
2021

Truncal Instability and Titubation in Patients With Acute Encephalopathy With Reduced Subcortical Diffusion.

Frontiers in neurology
2022

Incidence and risk factors of acute encephalopathy with biphasic seizures in febrile status epilepticus.

Brain &amp; development
2021

Infant with right hemiplegia due to acute encephalopathy with biphasic seizures and late reduced diffusion (AESD): A case report.

Medicine
2021

Reduced impact of viral load of HHV-6 in liquor on severity of AESD due to exanthema subitum: A case report and literature review.

Brain &amp; development
2021

Acute encephalopathy with biphasic seizures and late reduced diffusion; posterior frontal hyperperfusion before late seizures revealed by arterial spin labeling: A case report.

Brain &amp; development
2021

Prediction of AESD and neurological sequelae in febrile status epilepticus.

Brain &amp; development
2021

Early non-convulsive seizures are associated with the development of acute encephalopathy with biphasic seizures and late reduced diffusion.

Brain &amp; development
2020

Acute encephalopathy with biphasic seizures and late reduced diffusion: A case report.

Medicine
2021

Spanish Case of Acute Encephalopathy With Biphasic Seizures and Late Reduced Diffusion: Are We Only Seeing the Tip of the Iceberg?

The Pediatric infectious disease journal
2021

Guidelines for the diagnosis and treatment of acute encephalopathy in childhood.

Brain &amp; development
2021

Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion Associated with Dengue Infection in a Child.

Journal of tropical pediatrics
2020

Kawasaki disease presented with status epilepticus and diffusion MRI abnormalities in the subcortical white matter.

The Turkish journal of pediatrics
2020

DWI scoring system for prognosis of acute encephalopathy with biphasic seizures and late reduced diffusion.

Japanese journal of radiology
2020

Epidemiological changes of acute encephalopathy in Japan based on national surveillance for 2014-2017.

Brain &amp; development
2020

Efficacy of hypothermia therapy in patients with acute encephalopathy with biphasic seizures and late reduced diffusion.

Brain &amp; development
2020

Case-control association study of rare nonsynonymous variants of SCN1A and KCNQ2 in acute encephalopathy with biphasic seizures and late reduced diffusion.

Journal of the neurological sciences
2020

Vitamin B6 in acute encephalopathy with biphasic seizures and late reduced diffusion.

Brain &amp; development
2020

Detailed characteristics of acute encephalopathy with biphasic seizures and late reduced diffusion: 18-year data of a single-center consecutive cohort.

Journal of the neurological sciences
2020

Acute encephalopathy with biphasic seizures and late reduced diffusion in a Spanish girl.

Brain &amp; development
2019

Acute encephalopathy with biphasic seizures and late reduced diffusion (central sparing type)-MRI and MR spectroscopy findings.

The Indian journal of radiology &amp; imaging
2020

Human Herpesvirus 7-Related Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion.

The Pediatric infectious disease journal
2019

Corrigendum to "Serum Procalcitonin Levels in Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion".

Disease markers
2020

A case of respiratory syncytial virus-associated encephalopathy in which the virus was detected in cerebrospinal fluid and intratracheal aspiration despite negative rapid test results.

Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy
2020

Prognostic value of MR spectroscopy in patients with acute excitotoxic encephalopathy.

Journal of the neurological sciences
2020

Serum and cerebrospinal fluid cytokines in children with acute encephalopathy.

Brain &amp; development
2020

Perfusion abnormality on three-dimensional arterial spin labeling in patients with acute encephalopathy with biphasic seizures and late reduced diffusion.

Journal of the neurological sciences
2020

Granzyme A Participates in the Pathogenesis of Infection-Associated Acute Encephalopathy.

Journal of child neurology
2019

[Acute encephalopathy with biphasic seizures and late reduced diffusion in a child].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2019

Thermolabile polymorphism of carnitine palmitoyltransferase 2: A genetic risk factor of overall acute encephalopathy.

Brain &amp; development
2019

Early administration of vitamins B1 and B6 and l-carnitine prevents a second attack of acute encephalopathy with biphasic seizures and late reduced diffusion: A case control study.

Brain &amp; development
2019

A nationwide survey of norovirus-associated encephalitis/encephalopathy in Japan.

Brain &amp; development
2019

Acute Encephalopathy With Biphasic Seizures and Late Reduced Diffusion Associated With Adenoviral Pneumonia.

Child neurology open
2019

Subcortical axonal loss with glial reactions following partial status epilepticus with neuroradiological findings of reduced subcortical diffusion.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2019

Acute encephalopathy with biphasic seizures and late reduced diffusion accompanied by Takotsubo cardiomyopathy.

Brain &amp; development
2018

Vascular pathomechanism in acute encephalopathy with biphasic seizures and late reduced diffusion.

Journal of the neurological sciences
2018

Loss of myelinated axons and astrocytosis in an autopsy case of acute encephalopathy with biphasic seizures and late reduced diffusion.

Brain &amp; development
2018

Differential diagnosis of nonepileptic twilight state with convulsive manifestations after febrile seizures.

Brain &amp; development
2018

An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU.

Brain &amp; development
2018

Infantile traumatic brain injury with a biphasic clinical course and late reduced diffusion.

Journal of the neurological sciences
2018

Acute focal bacterial nephritis characterized by acute encephalopathy with biphasic seizures and late reduced diffusion.

Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy
2018

Serum Procalcitonin Levels in Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion.

Disease markers
2018

Acute encephalopathy with biphasic seizures and late reduced diffusion associated with Streptococcus sanguinis sepsis.

Pediatric reports
2018

Predictive indicators for the development of epilepsy after acute encephalopathy with biphasic seizures and late reduced diffusion.

Epilepsy research
2017

Acute encephalopathy with biphasic seizures and late reduced diffusion in Kawasaki disease.

Pediatrics international : official journal of the Japan Pediatric Society
2017

Status epilepticus causing extensive microvacuolar change with astrocytosis and diffusion MRI abnormalities in the subcortical white matter.

Journal of the neurological sciences
2017

A new infectious encephalopathy syndrome, clinically mild encephalopathy associated with excitotoxicity (MEEX).

Journal of the neurological sciences
2018

Use of high b value diffusion-weighted magnetic resonance imaging in acute encephalopathy/encephalitis during childhood.

Brain &amp; development
2017

A case of mumps-related acute encephalopathy with biphasic seizures and late reduced diffusion.

Brain &amp; development
2017

Early hypoperfusion on arterial spin labeling may be a diagnostic marker for acute encephalopathy with biphasic seizures and late reduced diffusion.

Brain &amp; development
2017

Transient dysautonomia in an acute phase of encephalopathy with biphasic seizures and late reduced diffusion.

Brain &amp; development
2017

Clinically mild infantile encephalopathy associated with excitotoxicity.

Journal of the neurological sciences
2017

[A case of Dravet syndrome complicated by human herpesvirus-6 infection-associated acute encephalopathy and choreoathetosis].

No to hattatsu = Brain and development
2017

Total corpus callosotomy for epileptic spasms after acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) in a case with tuberous sclerosis complex.

Brain &amp; development
2017

"Symptomatic" infection-associated acute encephalopathy in children with underlying neurological disorders.

Brain &amp; development
2016

Involuntary movements and coma as the prognostic marker for acute encephalopathy with biphasic seizures and late reduced diffusion.

Journal of the neurological sciences
2016

Hippocampal signal abnormality on the first day of illness in acute encephalopathy with biphasic seizures and late reduced diffusion caused by HHV-6 infection.

Brain &amp; development
2017

A case of acute encephalopathy with biphasic seizures and late reduced diffusion: Utility of arterial spin labeling sequence.

Brain &amp; development
2016

Activated microglia in acute encephalopathy with biphasic seizures and late reduced diffusion.

Journal of the neurological sciences
2016

Acute encephalopathy with biphasic seizures and late reduced diffusion associated with staphylococcal toxic shock syndrome caused by burns.

Brain &amp; development
2016

Septic Encephalopathy Characterized by Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion and Early Nonconvulsive Status Epilepticus.

Case reports in neurological medicine
2016

Distinguishing Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion from Prolonged Febrile Seizures by Acute Phase EEG Spectrum Analysis.

Yonago acta medica
2016

Manifestations and characteristics of congenital adrenal hyperplasia-associated encephalopathy.

Brain &amp; development
2016

Drugs indicated for mitochondrial dysfunction as treatments for acute encephalopathy with onset of febrile convulsive status epileptics.

Journal of the neurological sciences
2016

Targeted temperature management for acute encephalopathy in a Japanese secondary emergency medical care hospital.

Brain &amp; development
2015

Predictive score for early diagnosis of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD).

Journal of the neurological sciences
2015

Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures.

Epilepsy research
2015

Disrupted glutamate-glutamine cycle in acute encephalopathy with biphasic seizures and late reduced diffusion.

Neuroradiology
2016

Prediction of acute encephalopathy with biphasic seizures and late reduced diffusion in patients with febrile status epilepticus.

Brain &amp; development
2015

Seizure characteristics of epilepsy in childhood after acute encephalopathy with biphasic seizures and late reduced diffusion.

Epilepsia

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Encefalopatia aguda com convulsões bifásicas e redução da difusão tardia.

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Encefalopatia aguda com convulsões bifásicas e redução da difusão tardia

Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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.

  1. Arterial spin labeling reveals cerebral perfusion changes associated with involuntary movements in acute encephalopathy with biphasic seizures and late reduced diffusion: A case report.
    Brain &amp; development· 2026· PMID 41722127mais citado
  2. Analysis of prognostic factors in acute encephalopathy with biphasic seizures and late reduced diffusion: a retrospective study on MRI findings and the treatments.
    Journal of the neurological sciences· 2026· PMID 41604996mais citado
  3. Proteomic Analysis of Serum and Cerebrospinal Fluid in Children with Encephalopathy Associated with Human Betaherpesvirus 6B.
    Open forum infectious diseases· 2026· PMID 41816002mais citado
  4. A Case of HNRNPU-Related Neurodevelopmental Disorder Presenting With Acute Encephalopathy and Basal Ganglia Lesions.
    Congenital anomalies· 2026· PMID 41810849mais citado
  5. Infection-triggered encephalopathy syndrome in children: a neuroimaging perspective.
    Pediatric radiology· 2026· PMID 41677832mais citado

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:363549(Orphanet)
  2. MONDO:0018198(MONDO)
  3. GARD:21552(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q55787788(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

Compêndio · Raras BR

Encefalopatia aguda com convulsões bifásicas e redução da difusão tardia

ORPHA:363549 · MONDO:0018198
Prevalência
<1 / 1 000 000
Casos
283 casos conhecidos
CID-10
G40.4 · Outras epilepsias e síndromes epilépticas generalizadas
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C4707658
Repurposing
21 candidatos
beclamideanticonvulsant
carbamazepinecarboxamide antiepileptic
eslicarbazepine-acetatesodium channel blocker
+17 outros
EuropePMC
Wikidata
Papers 10a
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