Clinical assessment and brain findings in a cohort of mothers, fetuses and infants infected with ZIKA virus.

BACKGROUND: Congenital Zika virus (ZIKV) infection can be detected in both the presence and absence of microcephaly and manifests as a number of signs and symptoms that are detected clinically and by neuroimaging. However, to date, qualitative and quantitative measures for the purpose of diagnosis and prognosis are limited. OBJECTIVES: Main objectives of this study conducted on fetuses and infants with confirmed congenital Zika virus infection and detected brain abnormalities were (1) to assess the prevalence of microcephaly and the frequency of the anomalies that include a detailed description based on ultrasound and magnetic resonance imaging in fetuses and ultrasound, magnetic resonance imaging, and computed tomography imaging postnatally, (2) to provide quantitative measures of fetal and infant brain findings by magnetic resonance imaging with the use of volumetric analyses and diffusion-weighted imaging, and (3) to obtain additional information from placental and fetal histopathologic assessments and postnatal clinical evaluations. STUDY DESIGN: This is a longitudinal cohort study of Zika virus-infected pregnancies from a single institution in Colombia. Clinical and imaging findings of patients with laboratory-confirmed Zika virus infection and fetal brain anomalies were the focus of this study. Patients underwent monthly fetal ultrasound scans, neurosonography, and a fetal magnetic resonance imaging. Postnatally, infant brain assessment was offered by the use of ultrasound imaging, magnetic resonance imaging, and/or computed tomography. Fetal head circumference measurements were compared with different reference ranges with <2 or <3 standard deviations below the mean for the diagnosis of microcephaly. Fetal and infant magnetic resonance imaging images were processed to obtain a quantitative brain volumetric assessment. Diffusion weighted imaging sequences were processed to assess brain microstructure. Anthropometric, neurologic, auditory, and visual assessments were performed postnatally. Histopathologic assessment was included if patients opted for pregnancy termination. RESULTS: All women (n=214) had been referred for Zika virus symptoms during pregnancy that affected themselves or their partners or if fetal anomalies that are compatible with congenital Zika virus syndrome were detected. A total of 12 pregnant patients with laboratory confirmation of Zika virus infection were diagnosed with fetal brain malformations. Most common findings that were assessed by prenatal and postnatal imaging were brain volume loss (92%), calcifications (92%), callosal anomalies (100%), cortical malformations (89%), and ventriculomegaly (92%). Results from fetal brain volumetric assessment by magnetic resonance imaging showed that 1 of the most common findings associated with microcephaly was reduced supratentorial brain parenchyma and increased subarachnoid cerebrospinal fluid. Diffusion weighted imaging analyses of apparent diffusion coefficient values showed microstructural changes. Microcephaly was present in 33.3-58.3% of the cases at referral and was present at delivery in 55.6-77.8% of cases. At birth, most of the affected neonates (55.6-77.8%) had head circumference measurements >3 standard deviations below the mean. Postnatal imaging studies confirmed brain malformations that were detected prenatally. Auditory screening results were normal in 2 cases that were assessed. Visual screening showed different anomalies in 2 of the 3 cases that were examined. Pathologic results that were obtained from 2 of the 3 cases who opted for termination showed similar signs of abnormalities in the central nervous system and placental analyses, including brain microcalcifications. CONCLUSION: Congenital microcephaly is not an optimal screening method for congenital Zika virus syndrome, because it may not accompany other evident and preceding brain findings; microcephaly could be an endpoint of the disease that results from progressive changes that are related to brain volume loss. Long-term studies are needed to understand the clinical and developmental relevance of these findings.

Utilidad de la resonancia magnética fetal como método de diagnóstico corporal prenatal y revisión de nuestra experiencia: Serie de casos / Utility of Magnetic Resonance as a Prenatal Diagnosis Method and Review of Our Experience: Case Series

La resonancia magnética (RM) fetal es una valiosa técnica complementaria de la ecografía prenatal, útil en la detección y caracterización de anomalías del desarrollo fetal. El objetivo es mostrar la utilidad de esta técnica diagnóstica, así como dar a conocer nuestra experiencia mediante seis casos diagnosticados en el periodo comprendido entre 2013 y 2015. Esta experiencia incluye gestantes en el segundo y tercer trimestres de gestación, remitidas por sospecha diagnóstica de diversas patologías fetales con ecografía obstétrica.

Magnetic resonance imaging (MRI) and fetal ultrasound are complementary techniques. Fetal MRI is useful in the detection and characterization of congenital anomalies. Our objective is to show the usefulness of this diagnostic technique and to show our experience with six cases evaluated in our institution from 2013 to 2015. It includes pregnant women during the second and third trimester, remitted due to suspicion of various pathologies as detected by fetal ultrasound.

Encefalopatía necrotizante aguda de la infancia. Diagnóstico por imágenes: Presentación de caso / Acute Necrotizing Encephalopathy of Childhood. Diagnosis by Images: Case Report

La historia de la encefalopatía necrotizante aguda de la infancia (ANEC) o ANE por sus siglas en inglés (acute necrotizing encephalopathy of childhood), ha evolucionado a lo largo del tiempo. Primero se pensó que era de origen viral, pero recientemente se ha encontrado asociación con la mutación del gen RANBP2 en una forma familiar de tipo autosómico dominante. Su mortalidad es alta y las secuelas neurológicas recidivantes son bastante severas, aunque con el desarrollo de nuevas técnicas de diagnóstico y tratamiento precoz, estas no son tan graves como se creía. Por esto, el radiólogo debe conocer esta entidad y diagnosticarla precozmente con el fin de iniciar el tratamiento y darle el soporte que estos pacientes necesitan para disminuir las secuelas neurológicas que se pudieran presentar. Esta revisión de un caso se hace con el fin de orientar a los radiólogos y médicos en general al diagnóstico basado en las imágenes de esta poco frecuente, pero importante enfermedad.

The history of the acute necrotizing encephalopathy of childhood (ANEC), has evolved over time. At first it was thought to be secondary to a viral origin, but an association has recently been found with familial autosomal dominant form due to mutations in the RANBP2 gene. Their mortality is high and relapsing neurological sequelae are quite severe, but with the development of new techniques for early diagnosis and treatment, these are not as severe as previously thought. For this reason, the radiologist should know this entity and diagnose early in order to start treatment and give support that these patients need to reduce neurological damage that could arise. This review of a case based on images is performed in order to guide radiologists and physicians to diagnose this important but rare disease.

Malformación congénita del oído interno bilateral y del conducto auditivo interno derecho en un paciente con hipoacusia profunda neurosensorial bilateral: Presentación de caso / Congenital Malformation of the Bilateral Inner Ear and the Right Internal Auditory Canal in a Patient with Deep Bilateral Sensorineural Hearing Loss: Case Report

La tomografía computarizada y la resonancia magnética se consideran estudios complementarios que constituyen una herramienta de gran valor para el diagnóstico de malformaciones que afectan el oído interno. Para el estudio de los elementos óseos la tomografía brinda mayor detalle; por su parte, la resonancia magnética se emplea para la evaluación del laberinto membranoso y de los nervios vestibulococlear y facial (VIII y VII pares craneales). Este artículo presenta el caso de un niño de 1 año que cursa con grave hipoacusia neurosensorial bilateral; por medio de TC y RM se pudo determinar malformación congénita del oído interno bilateral tipo cavidad común, la cual está asociada a atresia del conducto auditivo interno derecho. Esto permitió descartar otras patologías dentro de su diagnóstico diferencial, como aplasia coclear, anomalía quística cocleovestibular y aplasia de canales semicirculares.

CT and MRI are complementary studies and are a valuable tool for the diagnosis of malformations affecting the inner ear. Tomography provides greater detail in the study of bony elements. On the other hand, MRI is used to evaluate the membranous labyrinth and the vestibule-cochlear and facial nerve (cranial nerves VIII and VII). This review presents the case of a one-year old child coursing with severe bilateral sensorineural hearing loss. Bilateral congenital malformation common cavity type was diagnosed through CT and MRI, associated with atresia of the right internal auditory canal. This enabled to rule out other pathologies within its differential diagnosis, such as cochlear aplasia, cochleovestibular cystic anomaly and aplasia of semicircular canals.

Endosonografía del esfínter rectal / Ano-rectal endosonography

Objetivo: Describir la técnica e indicaciones de la valoración del canal anorrectal mediante endosonografía, en el estudio de hallazgos normales y lesiones benignas observadas. Materiales y métodos: Experiencia en 234 pacientes entre el 2004 y el 2007. Técnica: Se describen y se registran los hallazgos de las diferentes capas anatómicas observadas durante el estudio endosonográfico. En caso de sospechar una fístula, se inyectó de 1 ml-2 ml de peróxido de hidrógeno al 5 por el orificio fistuloso, al tiempo que se mueve el transductor, hasta evaluar su trayecto. Se describen los tipos de fístulas, relación anatómica circundante, estado de esfínteres y otros hallazgos. Todos los exámenes fueron realizadospor un proctólogo y un radiólogo. Resultados: El 60% hombres y el 40% mujeres. De los 234 pacientes, 2 desistieron de realizarse el estudio completo por molestias. Encontramos 14% normales y 86% patológicos. El motivo de envío más frecuente fue sospecha clínica de fístulas, seguido de incontinencia fecal. La distribución de los hallazgos patológicos fue: fístulas transesfinterianas, 59%; sección esfintérica, 22%; fístulas con sección esfintérica, 4,5%, y otros, 13,6%, que corresponden a zonas fibróticas sin otra lesión asociada. Las alteraciones esfinterianas fueron clasificadas, y se encontró compromiso mixto (tanto en el interno como en el externo) en el 80% de todas las secciones esfinterianas. Conclusión: las imágenes obtenidas mediante rotación del transductor 360º durante la endosonografia anorrectal son de gran utilidad en la valoración de la localización, extensión y compromiso anatómico de los trastornos esfinterianos de manera rápida.