A síndrome de Aicardi é uma doença rara do neurodesenvolvimento, ou seja, que afeta o desenvolvimento do cérebro. Ela é definida por três características principais: a ausência (total ou parcial) de uma estrutura cerebral chamada corpo caloso; manchas ou falhas típicas na retina e na coroide (partes do olho); e convulsões que aparecem na infância, conhecidas como espasmos infantis. A síndrome afeta quase que exclusivamente meninas.
Introdução
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A síndrome de Aicardi é um distúrbio que ocorre quase que exclusivamente em mulheres. É caracterizada por três principais características que ocorrem juntas na maioria dos indivíduos afetados. Pessoas com síndrome de Aicardi têm tecido ausente ou subdesenvolvido que conecta as metades esquerda e direita do cérebro (agenesia ou disgenesia do corpo caloso). Elas apresentam convulsões que começam na infância (espasmos infantis), que tendem a evoluir para convulsões recorrentes (epilepsia) que podem ser difíceis de tratar. Os indivíduos afetados também apresentam lacunas coriorretinianas, que são defeitos no tecido sensível à luz na parte posterior do olho (retina).
Pessoas com síndrome de Aicardi frequentemente apresentam anomalias cerebrais adicionais, incluindo assimetria entre os dois hemisférios do cérebro, dobras e sulcos cerebrais pequenos ou em número reduzido, cistos e aumento das cavidades preenchidas por líquido (ventrículos) próximas ao centro do cérebro. Algumas têm cabeça incomumente pequena (microcefalia). A maioria dos indivíduos afetados tem retardo do desenvolvimento de moderado a grave e deficiência intelectual, embora algumas pessoas com esse distúrbio apresentem deficiência mais leve.
Além das lacunas coriorretinianas, pessoas com síndrome de Aicardi podem ter outras anomalias oculares, como olhos pequenos ou subdesenvolvidos (microftalmia) ou uma abertura ou fenda (coloboma) no nervo óptico, estrutura que transporta informações do olho para o cérebro. Essas anomalias oculares podem causar cegueira nas pessoas afetadas.
Algumas pessoas com síndrome de Aicardi apresentam características faciais incomuns, incluindo um filtrum curto (área entre o lábio superior e o nariz), nariz plano com ponta voltada para cima, orelhas grandes e sobrancelhas escassas. Outras características desta condição incluem mãos pequenas, malformações nas mãos e anomalias na coluna vertebral e nas costelas que levam a curvatura anormal progressiva da coluna (escoliose). Elas frequentemente têm problemas gastrointestinais, como constipação ou diarreia, refluxo gastroesofágico e dificuldade para se alimentar.
A gravidade da síndrome de Aicardi varia. Algumas pessoas com esse distúrbio têm epilepsia muito grave e podem não sobreviver além da infância. Indivíduos menos gravemente afetados podem viver até a idade adulta com sinais e sintomas mais leves.
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoA síndrome de Aicardi é uma doença rara do neurodesenvolvimento, ou seja, que afeta o desenvolvimento do cérebro. Ela é definida por três características principais: a ausência (total ou parcial) de uma estrutura cerebral chamada corpo caloso; manchas ou falhas típicas na retina e na coroide (partes do olho); e convulsões que aparecem na infância, conhecidas como espasmos infantis. A síndrome afeta quase que exclusivamente meninas.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 24 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 80 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
Nenhum gene associado encontrado
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Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
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Publicações mais relevantes
Fetal Neuroimaging in Aicardi Syndrome: A Case Report and Literature Review.
Aicardi syndrome (AIC) is a congenital condition involving characteristic neurological and ocular abnormalities. We describe a 30-year-old pregnant woman referred at 32 weeks of gestation after an ultrasound at 29 weeks showed corpus callosum agenesis, an interhemispheric arachnoid cyst, and colpocephaly. These findings raised prenatal suspicion of AIC. Postnatal evaluation confirmed the diagnosis with the identification of chorioretinal lacunae on fundoscopic examination. In this case, the prenatal imaging findings were key to recognizing a pattern suggestive of AIC, while postnatal assessment provided the definitive confirmation. This report highlights the role of detailed fetal neuroimaging in raising suspicion of AIC during pregnancy and underscores the importance of coordinated postnatal evaluation and multidisciplinary counseling.
Refining Aicardi Syndrome diagnostic Criteria: an expert-based consensus using a modified Delphi approach.
Aicardi syndrome (AIC) is a rare neurodevelopmental disorder historically characterised by the presence of chorioretinal lacunae, corpus callosum agenesis, infantile spasms and several supporting features that aid in diagnosis. However, the unclear aetiology and evolving diagnostic tools have led to ongoing reconsideration of the criteria, based on individual approaches. Our study aimed to establish, for the first time, an expert-based consensus on diagnostic criteria for AIC by integrating both existing and novel ones. A geographically diverse and multidisciplinary group of expert physicians was invited to participate in a modified Delphi study, to achieve consensus on major, supportive and alert diagnostic criteria applicable in clinical practice. Heterogeneity of available data, due to the rarity of the disease, we deliberately did not design the study to produce a fixed diagnostic algorithm. A total of 55 clinical experts participated in the Delphi study. The study found consensus on the historical triad of symptoms, while also introducing new major criteria: the coexistence of multiple cerebral malformations in a single patient, alongside cognitive impairment. The panel also identified additional supportive features and categorized infrequently reported, non-pathognomonic signs as alert criteria such as red flags that could prompt reconsideration of the diagnosis. The Delphi method successfully achieved a consensus on diagnostic criteria for AIC based on expert opinion. However, inherent limitations include the ultra-rare nature of AIC, variability in clinical experience among panellists, and uneven geographical representation, which may affect generalizability. The study emphasizes the need for ongoing research to validate and refine these criteria, particularly in light of advances in genetic and neurological knowledge. Given the unresolved aetiology of AIC, regular updates and enrichment of the diagnostic criteria remain essential, alongside the need to collect further evidence to support the development of a diagnostic algorithm.
Women With Genetic Epilepsies.
Some epilepsy syndromes are more common in female individuals. Often, these syndromes have an underlying genetic variant involving the X chromosome that is typically lethal in male individuals, resulting in a higher female prevalence. However, some of the idiopathic generalized epilepsies such as juvenile myoclonic epilepsy are conditions with complex inheritance, with thousands of variants in genes throughout the genome. But they can also have a predominance in female individuals. In this study, we performed a narrative review of PubMed and Scopus using the following entries: "epilepsy in women," "genetic epilepsy in female individuals," "epilepsy genetics in women," "female-specific epilepsy genetics," "epilepsy and genetic mutations in female individuals." The findings were synthesized and described according to clinical characteristics, underlying genetic mechanisms, and treatment considerations for these epilepsy syndromes manifesting largely in female individuals. The epilepsy syndromes reviewed here include Rett syndrome, CDKL5 deficiency disorder, PCDH19-related epilepsy, subcortical band heterotopia, periventricular heterotopia, Aicardi syndrome, and juvenile myoclonic epilepsy. Recognizing these epilepsy syndromes and understanding their underlying genetic etiology helps provide a tailored treatment approach early in the course of the disease. It can also assist with genetic counselling for family members who plan to have children.
Microphthalmia and Infantile Spasms Leading to the Diagnosis of Aicardi Syndrome: A Case Report and Literature Review of a Rare Entity.
Aicardi syndrome is a rare neurodevelopmental disorder characterized by the triad of corpus callosum agenesis, chorioretinal lacunae, and infantile spasms. Clinical presentation may vary widely, and ocular abnormalities can precede neurological symptoms. We report a case of a four-month-old female infant, initially referred for evaluation of unilateral microphthalmia and mild developmental delay. Ophthalmological examination revealed marked right microphthalmia, chorioretinal lacunae, and an optic disc coloboma in the left eye. Approximately one month later, she presented with new-onset, clustered episodes of axial flexion spasms, characteristic of infantile spasms. An electroencephalogram showed hypsarrhythmia, leading to a diagnosis of West syndrome. Subsequent brain magnetic resonance imaging revealed complete agenesis of the corpus callosum, multiple interhemispheric and intraventricular cysts, and a posterior fossa cyst. The constellation of these findings confirmed the diagnosis of Aicardi syndrome. The definitive diagnosis relies on integrating ophthalmological findings with neuroimaging and electrophysiological studies. Early recognition of the triad, especially when atypical ocular features such as unilateral severe microphthalmia act as an early presenting feature preceding the onset of spasms, allows for prompt initiation of anti-epileptic therapy and coordinated multidisciplinary care, which is essential for managing the severe developmental and neurological challenges associated with this rare syndrome.
Aicardi syndrome: Clinical spectrum of a rare disorder.
Aicardi syndrome is a rare genetic syndrome reported exclusively in females, with reported incidence of approximately 1 in 1.1 lakh live births. The clinical condition comprises of triad of infantile spasms, and mental retardation with neuroimaging findings of complete corpus callosum, agenesis and presence of chorioretinal degeneration observed during on eye examination. Here, authors reported the case of a 2-year-old female who exhibited typical clinical features, including seizures, developmental delay, and distinctive ocular abnormalities. MRI showed corpus callosum agenesis, an interhemispheric fissure cyst, and polymicrogyria. EEG depicted high voltage, polymorphic rhythm with superimposed multifocal spikes and wave discharges. Fundus examination revealed chorioretinal degeneration. This case emphasizes the importance of early recognition, accurate diagnosis, and comprehensive management strategies to optimizing outcomes for individuals with Aicardi syndrome.
Publicações recentes
Fetal Neuroimaging in Aicardi Syndrome: A Case Report and Literature Review.
Microphthalmia and Infantile Spasms Leading to the Diagnosis of Aicardi Syndrome: A Case Report and Literature Review of a Rare Entity.
Refining Aicardi Syndrome diagnostic Criteria: an expert-based consensus using a modified Delphi approach.
Aicardi syndrome: Clinical spectrum of a rare disorder.
📖 RevisãoWomen With Genetic Epilepsies.
📚 EuropePMC226 artigos no totalmostrando 90
Fetal Neuroimaging in Aicardi Syndrome: A Case Report and Literature Review.
CureusMicrophthalmia and Infantile Spasms Leading to the Diagnosis of Aicardi Syndrome: A Case Report and Literature Review of a Rare Entity.
CureusRefining Aicardi Syndrome diagnostic Criteria: an expert-based consensus using a modified Delphi approach.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyAicardi syndrome: Clinical spectrum of a rare disorder.
Journal of family medicine and primary careWomen With Genetic Epilepsies.
Neurology. GeneticsSystematic quantitative modeling of the natural history of Aicardi syndrome: A cross sectional study of 245 published cases.
Orphanet journal of rare diseasesTransforming neurosurgical approaches to Aicardi syndrome through Artificial Intelligence.
Neurosurgical reviewPrenatal and Postnatal Diagnosis and Genetic Background of Corpus Callosum Malformations and Neonatal Follow-Up.
Children (Basel, Switzerland)Population-based study of rare epilepsy incidence in a US urban population.
EpilepsiaAicardi Syndrome in an Infant with Migrating Focal Seizure.
Neurology IndiaTeaching Neuroimage - Aicardi Syndrome: A Triad of Epileptic Spasms, Agenesis of Corpus Callosum, and Chorio-Retinal Lacunae.
Neurology IndiaUtilizing Infantile Spasm Seizure Activity as a Baseline Vital in the Setting of Acute Pseudomonas aeruginosa Pneumonia.
CureusAicardi syndrome in a Nigerian female child: A case report and literature review of a rare neuro-developmental disorder from North-Western Nigeria.
Journal of the National Medical AssociationAicardi Syndrome Is a Genetically Heterogeneous Disorder.
GenesIntracranial arachnoid cysts.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryTherapeutic positioning to address neuromuscular scoliosis on an adolescent child with Aicardi syndrome: a case study.
Assistive technology : the official journal of RESNAEvaluation of immunological abnormalities in patients with rare syndromes.
Central-European journal of immunologyA case of Aicardi syndrome associated with duplication event of Xp22 including SHOX.
Ophthalmic geneticsOcular features in Aicardi syndrome: A case report.
MedicineImaging Similarities Between Oral-Facial-Digital Syndrome Type 1 and Aicardi Syndrome: Prenatal and Postnatal Magnetic Resonance Imaging (MRI) Findings in 4 Patients.
Journal of child neurologyEEG at onset and MRI predict long-term clinical outcome in Aicardi syndrome.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyA Case of Ophthalmoplegia, Hypotonia, and Developmental Delay in the Setting of Corpus Callosum Hypoplasia.
CureusDiagnostic approach to Aicardi syndrome: A case report.
Radiology case reportsA rare case of bilateral vitreoretinopathy of Aicardi syndrome.
American journal of ophthalmology case reportsThe role of vagus nerve stimulation in genetic etiologies of drug-resistant epilepsy: a meta-analysis.
Journal of neurosurgery. PediatricsPrenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case-series.
Prenatal diagnosisCurrent medico-psycho-social conditions of patients with West syndrome in Japan.
Epileptic disorders : international epilepsy journal with videotapeCase Report: Subtotal Hemispherotomy Modulates the Epileptic Spasms in Aicardi Syndrome.
Frontiers in neurologyKetogenic Diet Therapy for Epilepsy Associated With Aicardi Syndrome.
Journal of child neurologyAicardi syndrome in a 7-month-old girl with tonic seizures and skeletal defects: A case report.
Annals of medicine and surgery (2012)Hepatic Adenomatosis in Aicardi Syndrome: a Clinical Report and Review of the Literature.
Journal of gastrointestinal cancerBasal Ganglia Dysmorphism in Patients With Aicardi Syndrome.
NeurologyHypercalcemia in Children Using the Ketogenic Diet: A Multicenter Study.
The Journal of clinical endocrinology and metabolismAicardi syndrome in a prematurely born baby with retinopathy of prematurity: eye as a window to a systemic pathology.
BMJ case reports[Retinal abnormalities in three genetic disorders involving the X chromosome].
Journal francais d'ophtalmologie3D facial morphometry in Italian patients affected by Aicardi syndrome.
American journal of medical genetics. Part ATeaching Video NeuroImages: Epileptic spasms and characteristic ophthalmologic findings: A diagnostic conundrum.
NeurologyMorning glory optic nerve in Aicardi syndrome: Report of a case with fluorescein angiography.
European journal of ophthalmologyCorpus Callosotomy for Refractory Epilepsy in Aicardi Syndrome: Case Report and Focused Review of the Literature.
World neurosurgeryAicardi Syndrome: Key Fetal MRI Features and Prenatal Differential Diagnosis.
NeuropediatricsChorioretinal Lacunae in Aicardi's Syndrome: Key for the Diagnosis.
NeuropediatricsFilamin A-negative hyaline astrocytic inclusions in pediatric patients with intractable epilepsy: report of 2 cases.
Journal of neurosurgery. PediatricsAgenesis of the corpus callosum and hepatoblastoma.
American journal of medical genetics. Part AYolk Sac Tumors of the Head and Neck in Aicardi Syndrome.
The Annals of otology, rhinology, and laryngologyRapidly growing, multifocal, benign choroid plexus tumor in an infant: case report.
Journal of neurosurgery. PediatricsDissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development.
Journal of neurologyUnsolved recognizable patterns of human malformation: Challenges and opportunities.
American journal of medical genetics. Part C, Seminars in medical geneticsAn update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome.
American journal of medical genetics. Part C, Seminars in medical geneticsAicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination.
American journal of medical genetics. Part C, Seminars in medical geneticsAicardi syndrome in a 20-year-old female.
American journal of ophthalmology case reportsComorbidities of Rare Epilepsies: Results from the Rare Epilepsy Network.
The Journal of pediatricsOpen-label use of highly purified CBD (Epidiolex®) in patients with CDKL5 deficiency disorder and Aicardi, Dup15q, and Doose syndromes.
Epilepsy & behavior : E&BSleep in Children with Congenital Malformations of the Central Nervous System.
Current neurology and neuroscience reportsAbnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst.
Human mutationHigh-dose Chemotherapy is Efficacious and Well Tolerated in a Toddler With Aicardi Syndrome and Malignant Sacrococcygeal Teratoma.
Journal of pediatric hematology/oncologyAdenocarcinoma of Pigmented Ciliary Epithelium in a Child With Aicardi Syndrome and Congenital Microphthalmia With Cyst.
Ophthalmic plastic and reconstructive surgeryTriad of gloom in a girl child: Aicardi syndrome.
Neurology IndiaCongenital lymphocytic choriomeningitis virus-an underdiagnosed fetal teratogen.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusExploring genome-wide DNA methylation patterns in Aicardi syndrome.
EpigenomicsFoetal Magnetic Resonance Images of Two Cases of Aicardi Syndrome.
Journal of clinical and diagnostic research : JCDRAutopsy findings in EPG5-related Vici syndrome with antenatal onset.
American journal of medical genetics. Part AAicardi syndrome and cognitive abilities: A report of five cases.
Epilepsy & behavior : E&B[Epileptic encephalopathies in infancy. How do we treat them? Does the aetiology influence the response to treatment?].
Revista de neurologiaIndependent variant analysis of TEAD1 and OCEL1 in 38 Aicardi syndrome patients.
Molecular genetics & genomic medicineAgenesis of the Corpus Callosum and Aicardi Syndrome: A Neuroimaging and Clinical Comparison.
Pediatric neurologyOcular manifestations in the X-linked intellectual disability syndromes.
Ophthalmic geneticsAicardi syndrome: epilepsy surgery as a palliative treatment option for selected patients and pathological findings.
Epileptic disorders : international epilepsy journal with videotapeIris cyst in a child with Aicardi syndrome: a novel association.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusExome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome.
Molecular syndromologyHyaline Protoplasmic Astrocytopathy: A Clinicopathologic Study.
American journal of clinical pathologyLate Presentation of Retinoblastoma in a Teen with Aicardi Syndrome.
Ocular oncology and pathologyAicardi syndrome: when to suspect the unexpected.
Epileptic disorders : international epilepsy journal with videotapeHyaline protoplasmic astrocytopathy with associated focal cortical dysplasia and hippocampal sclerosis.
Clinical neuropathologyHyaline protoplasmic astrocytopathy in the setting of tuberous sclerosis.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaA clinical study of Aicardi syndrome in Northern Ireland: the spectrum of ophthalmic findings.
Eye (London, England)[Role of fundus examination in Aicardi syndrome].
Journal francais d'ophtalmologie[Repeated Anesthesia Management in a Patient with Aicardi Syndrome].
Masui. The Japanese journal of anesthesiologyGoltz syndrome and PORCN: A view from Europe.
American journal of medical genetics. Part C, Seminars in medical geneticsEarly Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.
European journal of medical geneticsIn Memoriam: Professor Jean Aicardi (1926-2015).
Pediatric neurologyTurkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene.
The Turkish journal of pediatricsCortical interneuron dysfunction in epilepsy associated with autism spectrum disorders.
EpilepsiaCorpus callosum abnormalities: neuroradiological and clinical correlations.
Developmental medicine and child neurologyProf. Jean François Marie Aicardi (1926-2015).
NeuropediatricsSevere CNS involvement in WWOX mutations: Description of five new cases.
American journal of medical genetics. Part ADe novo inbred heterozygous Zeb2/Sip1 mutant mice uniquely generated by germ-line conditional knockout exhibit craniofacial, callosal and behavioral defects associated with Mowat-Wilson syndrome.
Human molecular genetics[Aicardi syndrome with Dandy-Walker type malformation].
Revista de neurologiaA De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome.
Investigative ophthalmology & visual scienceVariable clinical expression in patients with mosaicism for KCNQ2 mutations.
American journal of medical genetics. Part ASomatic mosaicism of a CDKL5 mutation identified by next-generation sequencing.
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Doenças relacionadas
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Perguntas frequentes
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É uma doença genética rara do neurodesenvolvimento caracterizada por ausência do corpo caloso no cérebro, lesões na retina e espasmos infantis. Ela se manifesta quase exclusivamente em pessoas do sexo feminino com início dos sinais no período neonatal.
Referências
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5 publicações do grafo RarasNet (PubMed) · 7 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
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.
Citar este verbete
Raras. (s.d.). Síndrome Aicardi. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/sindrome-aicardi
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Síndrome Aicardi
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Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Genética mendeliana
- fonte: OMIM
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Ensaios clínicos
- fonte: ClinicalTrials.gov