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.
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.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
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Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 12 características clínicas mais associadas, ordenadas por frequência.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição.
Receptor for adenosine (By similarity). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase (By similarity)
Cell membrane
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55 variantes patogênicas registradas no ClinVar.
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4 vias biológicas associadas aos genes desta condição.
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Os sinais que médicos procuram e os exames que confirmam
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Remédios, cuidados de apoio e o que precisa acompanhar
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Publicações mais relevantes
Arterial spin labeling reveals cerebral perfusion changes associated with involuntary movements in acute encephalopathy with biphasic seizures and late reduced diffusion: A case report.
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.
Analysis of prognostic factors in acute encephalopathy with biphasic seizures and late reduced diffusion: a retrospective study on MRI findings and the treatments.
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.
Proteomic Analysis of Serum and Cerebrospinal Fluid in Children with Encephalopathy Associated with Human Betaherpesvirus 6B.
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.
A Case of HNRNPU-Related Neurodevelopmental Disorder Presenting With Acute Encephalopathy and Basal Ganglia Lesions.
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.
Infection-triggered encephalopathy syndrome in children: a neuroimaging perspective.
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
Proteomic Analysis of Serum and Cerebrospinal Fluid in Children with Encephalopathy Associated with Human Betaherpesvirus 6B.
A Case of HNRNPU-Related Neurodevelopmental Disorder Presenting With Acute Encephalopathy and Basal Ganglia Lesions.
Arterial spin labeling reveals cerebral perfusion changes associated with involuntary movements in acute encephalopathy with biphasic seizures and late reduced diffusion: A case report.
Infection-triggered encephalopathy syndrome in children: a neuroimaging perspective.
Analysis of prognostic factors in acute encephalopathy with biphasic seizures and late reduced diffusion: a retrospective study on MRI findings and the treatments.
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Proteomic Analysis of Serum and Cerebrospinal Fluid in Children with Encephalopathy Associated with Human Betaherpesvirus 6B.
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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.
- Arterial spin labeling reveals cerebral perfusion changes associated with involuntary movements in acute encephalopathy with biphasic seizures and late reduced diffusion: A case report.
- Analysis of prognostic factors in acute encephalopathy with biphasic seizures and late reduced diffusion: a retrospective study on MRI findings and the treatments.
- Proteomic Analysis of Serum and Cerebrospinal Fluid in Children with Encephalopathy Associated with Human Betaherpesvirus 6B.
- A Case of HNRNPU-Related Neurodevelopmental Disorder Presenting With Acute Encephalopathy and Basal Ganglia Lesions.
- Infection-triggered encephalopathy syndrome in children: a neuroimaging perspective.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:363549(Orphanet)
- MONDO:0018198(MONDO)
- GARD:21552(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- 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