Diagnóstico prenatal de quistes interhemisféricos asociados a agenesia del cuerpo calloso / Prenatal diagnosis of callosal agenesis with interhemispheric cyst

Introducción: Los quistes interhemisféricos asociados a agenesia del cuerpo calloso constituyen un grupo infrecuente y heterogéneo de anomalías del SNC. Objetivo: Reportar nuestra experiencia en quistes interhemisféricos asociados a agenesia del cuerpo calloso (QIH/ACC), haciendo énfasis en sus características en la neurosonografía (NSG), su comparación con la resonancia magnética (RM) y su evolución clínica posterior. Método: Se incluyeron todas las pacientes con QIH/ACC evaluadas desde el año 2008. En todos los casos se consignaron los datos clínicos, de NSG y de RM cuando se realizó. Se entrevistó telefónicamente a los padres. Resultados: Fueron seleccionados 9 casos con QIH/ACC. De ellos, 5 fueron quistes tipo 1, 3 tuvieron anomalías asociadas y en los 3 hubo una anomalía genética patogénica. Cuatro casos fueron quistes tipo 2, 3 de ellos con un patrón NSG sugerente de síndrome de Aicardi. Hubo una excelente correlación entre NSG y RM, ya fuera esta última realizada ante- o posnatal, particularmente con relación a las malformaciones del desarrollo cortical asociadas al QIH/ACC. Conclusiones: En comparación con la RM y el resultado final, hubo alta concordancia con lo diagnosticado en la NSG, en especial en cuanto a malformaciones del desarrollo cortical asociadas, lo que añade valor al método diagnóstico que ofrecemos a nuestra población consultante.

Background: Callosal agenesis associated with interhemispheric cysts correspond to a rare and heterogenous group of CNS anomalies. Objective: To report our experience in interhemispheric cysts associated with agenesis of the corpus callosum (QIH/ACC), emphasizing its characteristics in neurosonography (NSG), its comparison with magnetic resonance imaging (MRI) and its subsequent clinical evolution. Method: All patients with QIH/ACC evaluated since 2008 were included. In all cases, clinical, NSG and MRI data were recorded when performed. The parents were interviewed by telephone. Results: A total of 9 cases were selected with QIH/ACC. 5 cases were type 1 cysts, 3 of them had associated abnormalities and in all 3 there was a pathogenic genetic anomaly. 4 cases were type 2 cysts, 3 of them with an NSG pattern suggestive of Aicardi syndrome. There was an excellent correlation between NSG and MRI, either before or postnatally, particularly in relation to cortical developmental malformations associated with QIH/ACC. Conclusions: Compared to MRI and the final result, there was high agreement with what was diagnosed in NSG, especially in what corresponds to associated cortical developmental malformations, which adds value to the diagnostic method we offer to our consulting population.

Síndrome de Aicardi-Goutieres: Diagnóstico genético en una lactante

El Síndrome de Aicardi-Goutieres (SAG) se caracteriza por una encefalopatía genética, progresiva, de inicio temprano, que se asocia a un proceso inflamatorio. Además del SNC, puede afectar a la piel, con erupciones tipo sabañones, y presentar microcefalia, talla baja, disfunción hepática, disfunción tiroidea, reactantes de fase aguda elevados, anticuerpos autoinmunes positivos y asociaciones para enfermedades sistémicas autoinmunes como él LES. El SAG presenta locus heterogénicos, con mutaciones identificadas en los genes que codifican el exonucleasa TREX1 3´â†’5´ y las tres subunidades del complejo de endonucleasa RNASEH2. Se presenta el caso de una paciente de 2 años de edad, con retraso del desarrollo psicomotor, sin otras manifestaciones sistémicas, diagnosticada como SAG, con variante c.529G(A (p.Ala177Thr) con efecto patogénico en homocigosis en el gen RNASEH2B.

Aicardi-Goutieres Syndrome (AGS) is characterized by an early-onset, progressive, genetic encephalopathy associated with an inflammatory process. In addition to the CNS, it can affect the skin, with chilblain-like eruptions, and present with microcephaly, short stature, liver dysfunction, thyroid dysfunction, elevated acute phase reactants, positive autoimmune antibodies, and associations for autoimmune systemic diseases such as SLE. SAG presents heterogeneous loci, with mutations identified in the genes encoding the TREX1 3'→5' exonuclease and the three subunits of the RNASEH2 endonuclease complex. We present the case of a female 2-year-old patient, with delayed psychomotor development, without other systemic manifestations, diagnosed as SAG, with variant c.529G>A (p.Ala177Thr) with a pathogenic effect in homozygosis in the RNASEH2B gene.

Síndrome de Aicardi: revisión bibliográfica

Introducción: el síndrome de Aicardi (SA; OMIM #304050) es un trastorno genético raro, cuya incidencia es de aproximadamente 1/100.000. Fue descrito en 1965 como una triada consistente en agenesia del cuerpo calloso, lagunas coriorretinianas y espasmos infantiles. Asocia discapacidad intelectual severa y epilepsia de difícil control. Aunque su espectro clínico es variable, tiene por lo general un pronóstico infausto debido a la elevada morbimortalidad asociada. Se considera un trastorno esporádico causado por variantes patogénicas en heterocigosis de un gen ligado al cromosoma X, que causa mortalidad embrionaria en varones hemicigotos. Objetivo: este trabajo pretende llevar a cabo una revisión bibliográfica acerca de la literatura científica disponible del síndrome de Aicardi. De esta manera se hará una actualización sobre esta entidad en cuanto a definiciones, prevalencia e incidencia, etiología, espectro clínico y pronóstico de los pacientes afectos. Materiales y métodos: se lleva a cabo una búsqueda bibliográfica retrospectiva en las principales bases de datos científicas. Para ello, se utilizan las palabras clave "Aicardi", "agenesia del cuerpo calloso", "espasmos infantiles" y "encefalopatía epiléptica". Conclusiones: desde su descripción se ha ido ampliando el espectro de manifestaciones clínicas del síndrome. Actualmente no se conoce la existencia de un biomarcador que posibilite el diagnóstico, por lo que éste continúa siendo eminentemente clínico. Se debe tener un alto nivel de sospecha en espasmos infantiles de debut precoz en mujeres con alteraciones en neuroimagen.

Introduction: Aicardi syndrome (AS; OMIM #304050) is a rare genetic disorder, with an incidence of approximately 1/100,000. It was described in 1965 as a triad consisting of agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. It is associated with severe intellectual disability and difficult-to-control epilepsy. Although its clinical spectrum is variable, it generally has a poor prognosis due to the associated morbidity and mortality. It is considered a sporadic disorder caused by heterozygous pathogenic variants of a gene linked to the X chromosome, which causes embryonic mortality in hemizygous males. Objective: this article performs a bibliographic review of the available scientific literature on Aicardi syndrome. In doing so, we hope to update the disorder's definitions, prevalence and incidence, etiology, clinical spectrum and prognosis of affected patients. Materials and methods: we performed a retrospective bibliographic search in the main scientific databases. For this, we searched for the keywords "Aicardi", "agenesia of the corpus callosum", "infantile spasms" and "epileptic encephalopathy". Conclusions: since it was first described, the spectrum of clinical manifestations of the syndrome has been expanding. Currently, there is no known biomarker that makes diagnosis possible, so it continues to be eminently clinical diagnosis. A high level of suspicion should be present in cases of early-onset infantile spasms in women with neuroimaging abnormalities.

Pediatric stroke with Aicardi-Goutières syndrome: a case report / 中华神经科杂志

The clinical, imaging, genetic, therapeutic and prognostic features of a case of pediatric stroke who was finally diagnosed with Aicardi-Goutières syndrome (AGS) in Xi′an International Medical Center Hospital on October 24, 2021 were reported. A 10-year-old boy was admitted to the hospital due to weakness of the right limb for more than 10 hours. The pre-hospital CT showed multiple patchy calcifications in the bilateral frontal lobe and the right parietal lobe cortex-medullary junction. The physical examination on admission had chilblains on the hands, feet and face. National Institutes of Health Stroke Scale Score was 4 points. Brain magnetic resonance imaging showed acute brainstem infarction, no abnormality in magnetic resonance angiography, ultrasound and electrocardiogram of heart and neck vessels were normal, cerebrospinal fluid biochemistry and routine examination were normal, blood routine, biochemistry, coagulation, autoantibody series, thyroid function, tumor markers, human immunodeficiency virus and syphilis examinations were normal. After oral administration of aspirin anti-platelet aggregation and rehabilitation exercises, the muscle strength returned to normal and the patient was discharged. One month later, the result of genetic testing was reported as AGS caused by TREX1 gene mutation, and the mutation site is c.58G>A. AGS is a rare autoimmune hereditary encephalopathy with a large heterogeneity of clinical manifestations. When a hereditary disease was suspected, genetic testing should be done.

Aicardi syndrome: a case report / Síndrome de Aicardi: relato de caso

Abstract Introduction: the Aicardi syndrome (SA) is characterized as a rare syndrome identified in the presence of three classic characteristics: corpus callosum agenesis, chorioretinal lacunaeand infantile spasms. Description: data collection involved information reported by the mother and the accompanying physiotherapist describing the patient's clinical history andmajor complications according to clinical evolution, treatment, and therapeutic response. At two months of age, the child presented a delayed neuropsychomotor development and infantile spasms.However,the diagnosis of the syndrome was only performed at six months of life, involving brain magnetic resonance imaging where corneal body agenesis was observed. A multidisciplinary treatment was assembledwith a neuropediatrician, a physiotherapist, a psychologist, a nutritionistand a speech therapist, besides drug treatment with baclofen and phenobarbital. Discussion: through the established treatment, the child displayedmotor gain, cervical control, improvement of the respiratory condition, and no need forhospital admissions;these outcomescharacterizea good clinical evolution associated with the physiotherapeutic intervention focused on prevention and minimization of respiratory alterationsthatare frequently associated with morbidity and mortality in these cases. The results obtained point out the fundamental role of multidisciplinary intervention in coping with this condition.

Resumo Introdução: a Síndrome de Aicardi (SA), caracteriza-se como uma síndrome rara identificada na presença das três características clássicas: agenesia de corpo caloso, lacunas coriorretinianas e espamos infantis. Descrição: a coleta de dados envolveu informações relatadas pela genitora e pelo fisioterapeuta acompanhante da paciente, descrevendo assim a história clínica da paciente, as principais complicações de acordo com a evolução clínica, o tratamento e resposta terapêutica. Aos dois meses de idade a criança apresentou atraso no desenvolvimento neuropsicomotor e espasmos infantis, porém o diagnóstico da síndrome foi realizado somente aos seis meses de vida envolvendo um exame de ressonância magnética de encéfalo onde foi observada agenesia de corpo caloso, iniciando-se tratamento multidisciplinar com neuropediatra, fisioterapeuta, psicólogo, nutricionista e fonoaudiólogo, além do tratamento medicamentoso com baclofeno e fenobarbital. Discussão: através do tratamento estabelecido, a criança obteve ganho motor, controle cervical, melhora da condição respiratória e sem internações hospitalares, caracterizando uma boa evolução associada particularmente à intervenção fisioterapêutica que teve enfoque na prevenção e minimização de alterações respiratórias frequentemente associadas à morbidades e mortalidade nestes casos. Os resultados obtidos apontam o papel fundamental da intervenção multidisciplinar para o enfrentamento desta condição.

Clinical and genetic analysis in a patient with type 4 Aicardi-Goutières syndrome / 临床儿科杂志

Objective To explore the clinical characteristics, imaging and genetic features of Type 4 Aicardi-Goutières syndrome (AGS). Methods The clinical data were collected, genetic changes were tested using next generation sequencing, and relevant literatures were reviewed. Results A 5 months old girl present with recurrent fever, intelligence and motor developmental delay, epilepsy, microcephaly, spasticity, cerebrospinal fluid pleocytosis. Brain MRI displayed cerebral atrophy and white matter lesions. Brain CT displayed intra-cranial multiple calcifications. Two missense mutations were identified in RNASEH2A,c.199G>C was a novel mutation,and c.322C>T was a known pathogenic mutation.Conclusions RNASEH2A gene mutations can lead to type 4 AGS.

Síndrome de aicardi: presentación de un caso clínico y revisión de la literatura / AicardiÆs syndrome: a case report and literature review

El síndrome de Aicardi (SA), es una rara enfermedad neurogenética, diagnosticada clínicamente por la triada clásica de agenesia del cuerpo calloso, espasmos infantiles y lagunas corioretinales. El objetivo de nuestro trabajo fue presentar el espectro clínico y la evolución de este trastorno en un caso. Reportamos una lactante de dos meses, de malformaciones cerebrales múltiples, que ingresa a emergencia por presentar crisis convulsivas. Durante la hospitalización, los hallazgos clínicos û electroencefalográficos, neuroimágenes y evaluación oftalmológica confirman el diagnóstico de SA. Se resalta la importancia de conocer las manifestaciones clínicas del síndrome, para tenerlo en cuenta como diagnóstico diferencial, sobre todo en aquellos casos que presenten espasmos infantiles asociados a agenesia del cuerpo calloso.

AicardiÆs syndrome (SA) is a rare genetic disease, clinically characterized by the classic triad of agenesis of the corpus callosum, infantile spasms and chorioretinal lacunae. The aim of this presentation is to describe the clinical spectrum and evolution of the disorder. We report the case of a 2-month old female infant with a prenatal diagnosis of multiple brain malformations, brought into the Emergency Room while experiencing seizure spells. During her hospitalization, electroencephalography, neuroimaging and ophthalmologic evaluations confirmed the diagnosis of SA. The importance of knowing the clinical manifestations of the syndrome is emphasized, in order to keep it in mind as part of the differential diagnosis for cases presenting infantile spasms associated with agenesis of the corpus callosum.

Síndrome de Aicardi: descripción de cuatro casos venezolanos / Aicardi syndrome: a report of four venezuelan patients

El síndrome de Aicardi (SA) se caracteriza por agenesia del cuerpo calloso, espasmos infantiles y lesiones lacunares coriorretinianas. Su espectro evolutivo es variable, con pronóstico habitualmente muy grave en los primeros cinco años de vida. El objetivo de este trabajo es describir el espectro del fenotipo clínico y evolución de este trastorno en cuatro pacientes venezolanos. Todas las pacientes evaluadas cumplieron los criterios diagnósticos mayores, mostraron retraso psicomotor grave y convulsiones de inicio muy temprano. En dos pacientes se observó microftalmía. En tres (75 por ciento) de ellas se observó coloboma del nervio óptico, quistes interhemisféricos y heterotopías periventriculares. La primera paciente, con mayor tiempo de evolución, tiene actualmente 22 años. Todos los casos exhibieron un patrón asimétrico de hipsarritmia alternante en el electroencefalograma. Estos casos ilustran la expresión clínica y gravedad variables del síndrome de Aicardi. Su diagnóstico debe considerarse en niñas con retardo del desarrollo psicomotor y crisis convulsivas recurrentes iniciadas en la infancia temprana.

Aicardi syndrome is characterized by agenesis of the corpus callosum, infantile spasms and chorioretinal lacunae. The evolution of this disorder is variable, with a severe outcome over the first five years of age. The purpose of this report was to demonstrate the spectrum of the clinical phenotype and the course of this disorder in four Venezuelan patients. All patients met the major criteria, had severe psychomotor impairment and early onset seizures. There were microphtalmia in two of the patients. Three patients (75 percent) showed coloboma, interhemispheric cyst and periventricular heterotopias. The first patient, with longer follow-up, is currently aged 22. They all exhibited a typical asymmetric pattern on the electroencephalogram. These cases illustrate the variable clinical expression and severity of the Aicardi syndrome. A diagnosis of this disorder should be considered in girls with developmental delay, particularly, when there are accompanying recurrent seizures occurring in early childhood.

Síndrome de Aicardi: relato de caso e achados radiológicos / Aicardi syndrome: a case report and radiologic findings

Neste trabalho relatam-se os achados da síndrome de Aicardi, um distúrbio de etiologia desconhecida composta por espasmos múltiplos, lacunas coriorretinianas e agenesia do corpo caloso. Os autores apresentam um caso desta síndrome, com clínica e achados de ressonância magnética característicos. A doença, apesar de considerada rara, apresenta achados de imagem característicos. Nos últimos anos, a importância da ressonância magnética tem aumentado expressivamente,uma vez que demonstra outros achados além da agenesia do corpo caloso, tornando o papel do radiologista muito importante na suspeição diagnóstica desta enfermidade.

The authors report the findings of Aicardi syndrome, a disease of unknown etiology composed of multiple spasms, chorioretinal lacunae and agenesis of the corpus callosum. They present a caseof Aicardi syndrome with characteristic clinical presentation and magnetic resonance imaging findings. The disease, despite being considered rare, has characteristic imaging findings. Over the past years magnetic resonance imaging has improved its ability in demonstratingother findings besides agenesis of the corpus callosum, making the radiologist's role very important in the diagnostic suspicion of this disease.

An Atypical Case of Aicardi Syndrome with Favorable Outcome

Aicardi syndrome is a severe congenital disorder characterized by infantile spasms, chorioretinal lacunae, and agenesis or hypogenesis of the corpus callosum. A 6 month old female had developed abnormal eye movement and seizures of the complex partial type and myoclonic type. MRI pictures of the patient revealed the presence of genu associated with agenesis of the rest of corpus callosum. A funduscopic examination revealed bilateral small, solitary, pale areas with sharp borders, some of which had minimal surrounding pigmentation (chorioretinal lacunae), especially clustered around the disc, and they were more prominent on the left side. We report here on the unusual findings of a complex partial seizure, myoclonic seizure and the atypical EEG finding in addition to the well-known characteristic clinical and imaging findings of a patient with Aicardi syndrome.

Aicardi Syndrome: A case report

Aicardi syndrome is defined by the clinical triad infantile spasms, agenesis of the corpus callosum, and pathognomonic chorioretinal lacunae. Infantile spasm begins at early infancy and tends to be controlled poorly. The prognosis is poor in the patient with severe developmental delay and intractable seizures being common. We present a case of Aicardi syndrome in the 9-month-old female infant with infantile spasm, spastic tetraplegia and microcephaly. Her brain MRI revealed corpus callosum agenesis, atrophy of left hemisphere and periventricular heterotopia. She showed bilateral choroidal and optic disc coloboma. We report this case with the review of literatures.

A Case of Aicardi Syndrome

Aicardi syndrome is a congenital multiorgan disorder which is characterized by agenesis of the corpus callosum, chorioretinal ""lacunae"" (often associated with retinal colobomas and microphthalmia), vertebral anomalies, a characteristic seizure disorder, and mental retardation. We present a case of Aicardi syndrome with cleft lip and palate.

A case of Aicardi syndrome with cleft lip and palate

A case of Aicardi syndrome with cleft lip and palate was experienced at the Department of Pediatrics, College of Medicine, Hallym University, and the patient's infantile spasm was treated with ACTH. In previous studies, four cases of Aicardi syndrome accompanied by cleft lip and palate were reported. We present the fifth case of Aicardi syndrome with cleft lip and palate in the world. Thus, facial clefts may be found as an occasional manifestation of Aicardi syndrome.