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.

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.

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.

[Aicardi syndrome with Dandy-Walker type malformation]. / Síndrome de Aicardi con malformación tipo Dandy-Walker.

INTRODUCTION: Aicardi syndrome (OMIM 304050) was first described in 1965. Its classic triad consists of infantile spasms, partial or total agenesis of the corpus callosum and ocular disorders, such as chorioretinal lacunae. It has been posited that it is due to a mechanism involving X-linked dominant inheritance. CASE REPORT: We report the case of a full-term female, with no pathological familial history or parental consanguinity, with a prenatal diagnosis of Dandy-Walker type malformation, who presented convulsions, coloboma of the optic nerve, thoracic vertebral block with presence of scoliosis, transfontanellar ultrasound imaging showing agenesis of the corpus callosum and karyotype 46,XX. She was diagnosed with Aicardi syndrome and died at the age of one and a half months. The autopsy revealed supratentorial hydrocephalus with the presence of choroid plexus papilloma, a cyst in the posterior fossa (fourth ventricle), hypoplasia of the cerebellar vermis, agenesis of the left hemisphere of the corpus callosum and cerebellum, characteristic facial features of the syndrome, ogival palate, pectus excavatum, scoliosis, paraovarian cyst and hepatomegaly. CONCLUSIONS: Few cases of an association between the pathology and the presence of Dandy-Walker malformation have been described. We report a new case of the association, bearing in mind that the related disorders, mainly agenesis or hypoplasia of the corpus callosum, suggest the existence of an underlying genetic component. A study of the search for the aetiology must be focused on evaluating those genes that are related with neurodevelopment and its activation in the organogenesis stage. The definitive diagnosis establishes the prognosis, management and genetic counselling of the family.

TITLE: Sindrome de Aicardi con malformacion tipo Dandy-Walker.Introduccion. El sindrome de Aicardi (OMIM 304050) fue descrito en 1965. Su triada clasica esta compuesta por espasmos infantiles, agenesia parcial o total del cuerpo calloso y alteraciones oculares, como lagunas coriorretinianas. Se postula un mecanismo de herencia ligado a X dominante. Caso clinico. Niña nacida a termino, sin antecedentes familiares patologicos ni consanguinidad parental, con diagnostico prenatal de malformacion tipo Dandy-Walker, quien presento episodios convulsivos, coloboma del nervio optico, bloque vertebral toracico con presencia de escoliosis, ecografia transfontanelar con agenesia del cuerpo calloso y cariotipo 46,XX. Se diagnostico de sindrome de Aicardi y fallecio con mes y medio de edad. En la autopsia se evidencio hidrocefalia supratentorial con presencia de papiloma de los plexos coroideos, quiste en la fosa posterior (cuarto ventriculo), hipoplasia del vermis cerebeloso, agenesia del hemisferio del cuerpo calloso y cerebeloso izquierdo, rasgos faciales caracteristicos del sindrome, paladar ojival, pectus excavatum, escoliosis, quiste paraovarico y hepatomegalia. Conclusiones. Pocos casos han descrito la asociacion de la patologia y la presencia de malformacion de Dandy-Walker. Se comunica un nuevo caso con esta asociacion, teniendo en cuenta que las alteraciones relacionadas, principalmente agenesia o hipoplasia del cuerpo calloso, sugieren que tiene un componente genetico de base. El estudio de busqueda de la etiologia de centrarse en evaluar aquellos genes que tengan relacion con el neurodesarrollo y su activacion en la etapa de organogenia. El diagnostico definitivo establece el pronostico, manejo y asesoria genetica a la familia.

Scoliosis in Children With Aicardi Syndrome.

BACKGROUND: Aicardi syndrome (ACS) is a rare neurodevelopmental disorder that was classically characterized by the triad of agenesis of corpus callosum, infantile spasms, and chorioretinal lacunae. As new cases emerge and new common phenotypic features are being described in subsequent reports, new modified diagnostic criteria have been proposed that now classify the observed costovertebral abnormalities as supporting diagnostic features. To our knowledge there are no previous studies focusing and describing the scoliosis observed in children with ACS. METHODS: We screened billing lists to identify patients seen in the Division of Orthopaedic Surgery at our institution with a diagnosis of ACS that were treated for scoliosis after 2001. A total of 5 patients were identified. Medical records and radiographs were retrospectively reviewed in all cases. In all of the patients the diagnosis of ACS had been confirmed through complete genetic evaluation and advanced imaging. RESULTS: The mean age when scoliosis was first noticed was 3.9±4.2 years (range, 0.5 to 10.5 y) with a mean Cobb angle of 22.5±6.7 degrees (range, 10 to 27 degrees). The mean age at the first orthopedic visit was 5.8±5.0 years (range, 1.5 to 13 y) with a progressed mean Cobb angle of 39.5±17.3 degrees (range, 15 to 57 degrees). Congenital vertebral anomalies were observed in 1 patient. Three patients were treated surgically; 1 of the 3 patients had a surgical complication with loss of intraoperative neuromonitoring signals. Two patients had not undergone surgery at the last visit with a mean Cobb angle of 75.5 degrees. The mean postoperative follow-up for the surgical group (cases 1 to 3) was 3±3.6 years (range, 0.6 to 7.2 y) and the mean total follow-up for both groups was 6.6±2.5 years (range, 2.6 to 8.6 y). CONCLUSIONS: Scoliosis in ACS can represent a clinically significant problem that is underdiagnosed and overshadowed by the other severe medical complications associated with the syndrome. Our data suggest that scoliosis in patients with ACS is rapidly progressive and bracing is ineffective; early screening, close observation, and low threshold for referral to an orthopedic surgeon are crucial. LEVEL OF EVIDENCE: Level IV-case series.

Síndrome de encefalopatía progresiva de comienzo temprano / Early-onset progressive encephalopathy syndrome

El síndrome PEHO (encefalopatía progresiva, edema, hipsarritmia y atrofia óptica), descrito en 1991, es un trastorno infrecuente con inicio en los primeros meses, que cursa con hipotonía, edemas, crisis epilépticas, retraso psicomotor y evolución tórpida con fallecimiento en edades tempranas. En 1993, se establecen los criterios clínicos para el síndrome PEHO, y se identifica el síndrome similar al PEHO, sobre la base de hallazgos neurorradiológicos, al compartir la semiología clínica y, con matices, los hallazgos neurofisiológicos. Los primeros y gran parte de los casos descritos son finlandeses. A partir de 1995, han aparecido pacientes en otros países. Ambos síndromes tienen la misma gravedad en ambos sexos. Se estima una herencia autosómica recesiva. No se ha encontrado alteración analítica que justifique los hallazgos clínicos ni radiológicos. Se sugiere que el incremento de los niveles de óxido nítrico en ambos síndromes y la disminución de los niveles del factor de crecimiento similar a la insulina en el síndrome PEHO en el líquido cefalorraquídeo están comprometidos en su patología. El síndrome PEHO y el síndrome similar al PEHO difieren en los hallazgos neurorradiológicos, infratentoriales en el primero y supratentoriales en el segundo. Al cursar ambos con encefalopatía, neuropatía, disfunción autonómica y epilepsia progresiva se sugiere que constituyen variantes de un mismo continuum neurobiológico...

Morphological evaluation of lateral ventricles of fetuses with ventriculomegaly by three-dimensional ultrasonography and magnetic resonance imaging: correlation with etiology.

PURPOSE: To evaluate morphology of lateral ventricles of ventriculomegaly/hydrocephaly fetuses using 3D-sonography by virtual organ computer-aided analysis (VOCAL) technique and magnetic resonance imaging (MRI) and verify morphologic patterns related to etiology. METHODS: Seventeen fetuses presenting with ventricular enlargement (atria > 10 mm) were evaluated. 3D datasets were acquired from a coronal reference plane and post-processed by the rotational imaging using VOCAL 30°. MRI study was analyzed in the three plans in all sequences. Morphologic aspects such as global shape, anterior, posterior and inferior horn characteristics, wall irregularities and deformities were analyzed and related to etiology factor. RESULTS: Twenty-nine percent of the cases were secondary to Arnold-Chiari syndrome and presented with global dilation of the three-horns. Cases related to aqueduct stenosis presented with ependymal rupture and wall irregularities in advanced cases. Corpus callosum agenesis cases presented with small ventricular volumes, thin shape, normal or slightly enlarged anterior and inferior horns with dilation restricted to posterior horn. Cases related to trisomy 18 and cytomegalovirus presented irregular ventricular walls associated with anomalous ventricular shapes, suggesting parenchymal destruction. CONCLUSION: Ventricular morphology evaluation gives important information on etiology of ventricular enlargement, supporting prognosis prediction and decision making process of the affected fetuses and their families.

[Aicardi syndrome: a report of four Venezuelan patients]. / Síndrome de Aicardi. Descripción de cuatro casos venezolanos.

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%) 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.