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.

Prenatal Ultrasound Diagnosis of Biometric changes in the Brain of Growth Restricted Fetuses. A Systematic Review of Literature / Diagnóstico ecográfico de alterações biométricas no cérebro de fetos comrestrição do crescimento fetal. Uma revisão sistemática da literatura

Abstract Fetal growth restriction (FGR) occurswhen the fetus does not reach its intrauterine potential for growth and development as a result of compromise in placental function. It is a condition that affects 5 to 10% of pregnancies and is the second most common cause of perinatal morbidity and mortality. Children born with FGR are at risk of impaired neurological and cognitive development and cardiovascular or endocrine diseases in adulthood. The purpose of the present revision is to perform a literature search for evidence on the detection and assessment by ultrasound of brain injury linked to FGR during fetal life. Using a systematic approach and quantitative evaluation as study methodology, we reviewed ultrasound studies of the fetal brain structure of growth-restricted fetuses with objective quality measures. A total of eight studies were identified. High quality studies were identified for measurement of brain volumes; corpus callosum; brain fissure depth measurements, and cavum septi pellucidi width measurement. A low-quality study was available for transverse cerebellar diameter measurement in FGR. Further prospective randomized studies are needed to understand the changes that occur in the brain of fetuseswith restricted growth, as well as their correlation with the changes in cognitive development observed.

Resumo A restrição do crescimento fetal (RCF) ocorre quando umfeto não consegue atingir seu potencial de crescimento intrauterino, na maioria das vezes por compromisso da função placentária. É uma condição que afeta de 5 a 10% das gravidezes e é a segunda causa mais comum de morbidade e mortalidade perinatal. Crianças nascidas com RCF incorrem em maior risco de atraso no desenvolvimento neurológico e cognitivo, bem como de doenças cardiovasculares e/ou endócrinas, na idade adulta. O objetivo desta revisão foi o de pesquisar na literatura evidência sobre o diagnóstico pré-natal por ecografia de lesões cerebrais relacionadas com a RCF. Utilizando uma abordagem sistemática, avaliamos de forma quantitativa a metodologia dos oito estudos que preencheram os critérios de inclusão e foram, assim, incluídos nesta revisão. Foram identificados estudos de alta qualidade para a medição dos volumes cerebrais;medição do corpo caloso; medição da profundidade das incisuras cerebrais emedição do cavum do septo pelúcido. Os autores identificaram um estudo de qualidade inferior sobre a medição transversal do diâmetro transcerebelar em fetos com RCF. Mais estudos prospectivos randomizados são necessários para perceber quais as alterações que ocorrem no cerébro dos fetos com restrição do seu crescimento, bem como, a sua correlação com as alterações do desenvolvimento cognitivo observadas.

Role of neurosonography in neonates with clinically suspected intracranial pathology

Background: Preterm neonates have a higher mortality and morbidity because of their greater risk for intracranial hemorrhage (ICH), hypoxic ischemic encephalopathy(HIE) which can lead to poor neurodevelopmental outcomes. The present study was conducted to evaluate neonates with clinically suspected intracranial pathology by neurosonography.Methods: Included neonates were those with clinically suspected intracranial pathology admitted to neonatal intensive care unit of the Bharati Vidyapeeth Medical College and Hospital (Deemed to be University), Sangli from October 2018 till December 2018. First cranial neurosonography was done between first and third day, second between 7th and 10th day of birth. HIE also known as Periventricular leukomalacia (PVL) grading was done using the De Varies et al, grading. Severity of ICH was graded according to Papile and Burstein classification(1978).Results: Of the total 60 neonates, 61.7% were preterm and rest at term. Mean APGAR score at 1 minute was 8.6 (range 5 to 10) and at 5 minutes was 9.58 (range 8 to 10). Mean ventricular index at the first assessment was 26.78% and 26.89% at the second assessment. Grade 1 HIE was found in 17 neonates on first assessment, and two had grade 2 HIE. Second assessment revealed grade 1 HIE in 20 neonates and grade 2 in two. First assessment revealed two neonates with grade 1 and grade 2 ICH, out of which one grade 2 ICH worsened to grade 3. Two neonates were found to have corpus callosal agenesis.Conclusions: Transcranial neurosonography stands as an excellent and reliable investigation of choice for neonates to detect HIE,ICH and intracranial congenital anomalies.

Diagnóstico prenatal de agenesia del cuerpo calloso mediante neurosonografía volumétrica-3D: una nueva alternativa para la evaluación de anomalías de la línea media

La agenesia de cuerpo calloso (ACC) es una anomalía del sistema nervioso central fetal de pronóstico variable, cuyo diagnóstico prenatal es difícil debido a las limitaciones de la ultrasonografía convencional, tales como la dificultad para su visualización directa y la obtención de planos adecuados. La sospecha diagnóstica se apoya en hallazgos indirectos y debe ser confirmada con la neurosonografía. La evaluación 3D ofrece ventajas en el examen del cerebro fetal; la obtención de volumen permite generar planos a demanda que optimizan el estudio neurosonográfico. Se presenta un caso de diagnóstico prenatal de un feto con ACC mediante neurosonografía volumétrica 3D y su rol como nueva alternativa para la evaluación de anomalías de la línea media.

Agenesis of corpus callosum (ACC) is a central nervous system fetal anomaly of variable outcome; prenatal diagnosis is difficult due to the limitations of conventional ultrasound such as difficult visualization of the corpus callosum and obtaining adequate planes. Diagnosis is suspected on indirect signs and must be confirmed by neurosonography. 3D evaluation offers some advantages in fetal brain examination; the volume obtained allows generation of multiple planes that optimize the neurosonography study. We present a case of prenatal diagnosis of a fetus with ACC performed by 3D volumetric neurosonography and its role as new alternative for midline brain anomalies evaluation.

Evaluación del cuerpo calloso en el examen rutinario: ¿nuestro siguiente desafío? / Evaluation of the corpus callosum in the routine examination

Diagnosis of anomalies of the corpus callosum (complete agenesis, partial agenesis and hypoplasia) demands a direct visualization to this structure. Indirect signs of complete agenesis can be detected in axial sections, usually performed for screening. However, subtle abnormalities such as partial agenesis or hypoplasia require transfontanelar views. The transfrontal view is a simple access to incorporate, when evaluating the fetal profile. The metopic suture is a window to fetal midline brain structures, providing a direct access to the corpus callosum and other medial structures. Transvaginal neurosonographic examination is need when an abnormality is suspected during routine examination.

El diagnóstico de anomalías del cuerpo calloso (agenesia completa o parcial e hipoplasia) requieren de la visión directa de esta estructura. La agenesia completa se asocia a signos indirectos posibles de visualizar en los planos axiales convencionales de pesquisa. Sin embargo, lesiones más sutiles como agenesia parcial e hipoplasia no siempre se asocian a signos que permitan alertar al ecografista, durante el examen rutinario. La visión transfrontal es un plano de visión simple de incorporar, cuando se está habituado a evaluar el perfil fetal. Este acceso permite una visión directa del cuerpo calloso y de otras estructuras mediales, acceso posible de obtener más de 2/3 de las veces. Los hallazgos sugerentes de anormalidad obligan a considerar efectuar una neurosonografía multiplanar endovaginal.

Linear Hyperechoic Lesions in the Thalami and Basal Ganglia of Neonates and Infants:A Sonographic Finding of Vasculopathy and Clinical Significance

PURPOSE: This study is to evaluate the clinical significance and possible etiologies of abnormal neurosonographic findings that revealed linear or branching linear hyperechoic vascular lesions in the thalami and basal ganglia of neonates and infants. METHODS: Analysis of 2,866 cranial sonograms (US) and doppler ultrasonography obtained from 1,150 patients identified 53 patients with linear hyperechoic vascular lesions in the thalami or basal ganglia. Patients with only punctate or coarse, nonlinear lesions of echogenicity in these lesions were excluded. Clinical records in 53 patients were reviewed for documentation of congenital cytomegalovirus (CMV) infection, rubella, syphilis, toxoplasmosis, chromosomal abnormality and other major diagnoses. Brain computed tomography (CT) had been performed in 23 of the 53 patients and these images were compared with the cranial sonograms. RESULTS: There were five CMV infection, two congenital syphilis, three Down syndrome, and one Patau syndrome patients. Other major diagnoses encountered included perinatal asphyxia, ventriculomegaly, intraventricular hemorrhage, periventricular leukomalacia, small-for-gestational age, prematurity with hyaline membrane disease, multiple congenital anomalies, neonatal seizure, meningitis, congenital choroid plexus cyst, neonatal hyperbilirubinemia, congenital heart disease, bronchopulmonary dysplasia and others. Brain CT found small calcification in basal ganglia from one patient. Resolution of lesions found in 5 cases with follow-up US studies. CONCLUSION: A broad etiologic basis for linear hyperechoic vascular lesions in the thalami and basal ganglia of neonates and infants indicates complete screening for possible various etiologies.

Intracranial hemorrhage in full-term neonates by ultrasonography

Intracranial hemorrhage is the most common neuropathologic finding in premature infants. But in full-term infants, it is less common and rarely causes death. We found out intracranial hemorrhages in 21 full-term neonates by real-time neurosonography and concluded as followings. 1) Among 21 neonates, 17 infants were male and 4 infants were female. 2) In 11 (52.3%) infants the hemorrhage was detected within 7 days after birth. 3) The intracranial hemorrhage was not related with delivery type nor Apgar score. 4) In 13 cases (61.9%) the hemorrhage was in the subependymal germinal matrix and the degree was Grade I. 5) Precipitating or associated factors were asphyxia, pneumonia, ventilator care, RDS and congenital heart disease. 6) Symptoms and signs were seizure, apnea, lethargy, cyanosis, jaundice, anemia or bulging fontanel.