RESUMO
La torta omental describe la presencia de material infiltrativo en la grasa epiploica. El carcinoma de ovario es el proceso maligno clásicamente relacionado con las tortas omentales; sin embargo, las neoplasias malignas que pueden desarrollarlo son múltiples. Igualmente, procesos agudos o crónicos de índole inflamatoria e infecciosa pueden llevar a esta situación. De hecho, si bien la presencia de torta omental siempre implica descartar malignidad, en la edad pediátrica son más frecuentes estas otras etiologías. La clínica de la infiltración epiploica suele ser muy inespecífica, independientemente de la etiología. Los casos descritos suelen debutar con dolor abdominal mal localizado de días o semanas de evolución. La torta omental, en esencia, es un signo radiológico; por tanto, su diagnóstico implica la realización de una o varias pruebas de imagen. El gold standard es la tomografía computarizada (TC). La ecografía es una buena alternativa en niños. Si la causa de la torta omental es incierta, es necesario el examen anatomopatológico de una muestra de tejido peritoneal. Finalmente, el tratamiento en casos de omental cake depende de la etiología. En general, la presencia de este signo radiológico en el seno de una enfermedad neoplásica implica peores resultados. En cambio, en procesos infecciosos es posible un tratamiento dirigido con erradicación del patógeno implicado, consiguiendo una evolución clínica favorable (AU)
Omental cake describes the presence of infiltrative material in the epiploic fat. Ovarian carcinoma is the malignant process classically associated with omental cakes; however, there are multiple malignant neoplasms that can lead to its development. Similarly, acute or chronic inflammatory and infectious processes can lead to this condition. In fact, while the presence of omental cake always implies the need to rule out malignancy, these other etiologies are more common in the pediatric age group. The clinical presentation of epiploic infiltration is usually nonspecific, regardless of the etiology. Described cases often present with poorly localized abdominal pain that has been present for days or weeks. Omental cake, essentially, is a radiological sign; therefore, its diagnosis involves performing one or more imaging tests. The gold standard is computed tomography (CT). Ultrasound is a good alternative to CT as an initial test, especially in children, where neoplastic causes of omental cake are rare. If the cause of omental cake is uncertain, a histopathological examination of a peritoneal tissue sample is necessary. Finally, the treatment for omental cake depends on the etiology. In general, the presence of this radiological sign within a neoplastic disease implies worse outcomes. Conversely, in infectious processes, targeted treatment aiming to eradicate the implicated pathogen can lead to a favorable clinical course. (AU)
Assuntos
Humanos , Feminino , Adolescente , Omento/microbiologia , Doenças Peritoneais/diagnóstico por imagem , Campylobacter jejuni , Infecções por Campylobacter/diagnóstico por imagemRESUMO
Ultrasound (US) has been increasingly used as an important imaging tool to assess the urethra in children. The earliest reports of pediatric urethral sonography involved imaging the urethra in a non-voiding state, during physiological voiding of urine, and after instillation of saline. The introduction of US contrast agents has continued to improve visualization of urethral anatomy. Contrast-enhanced US of the urethra can be performed during the voiding phase of a standard contrast-enhanced voiding urosonography (ceVUS) exam or with retrograde instillation of a contrast agent, depending on the exam indication. Both techniques are well tolerated by children and provide accurate information about urethral pathology and periurethral soft tissues. This article reviews the technical aspects and imaging findings of urethral pathologies in children using contrast-enhanced US, both by the voiding and retrograde instillation techniques.
Assuntos
Uretra , Micção , Criança , Meios de Contraste , Diagnóstico por Imagem , Humanos , Masculino , Ultrassonografia , Uretra/diagnóstico por imagemRESUMO
La glucogenosis es una enfermedad metabólica poco frecuente, producida por un trastorno del metabolismo de los hidratos de carbono. Existen múltiples variantes en función de la enzima implicada, la tipo 9 se produce por una deficiencia de la glucógeno desfoforilasa-cinasa a nivel hepático y se caracteriza por la presencia de hepatomegalia, hipertransaminasemia e hipoglucemia con el ayuno. Se presenta el caso de una lactante de 10 meses, cuyos síntomas guías fueron la distensión abdominal y la hiperfagia. El diagnóstico de glucogenosis se confirmó mediante el estudio genético, objetivándose una mutación en el gen PHKG2, compatible con el diagnóstico de enfermedad de almacenamiento de glucógeno tipo 9C. Se instauró tratamiento sintomático, evitando el ayuno y aumentando la ingesta hidratos de carbono de absorción lenta, con buena evolución clínica
Glycogenesis is a rare metabolic disease caused by a carbohydrate metabolism disorder. There are multiple variants depending on the enzyme involved. Type 9 is produced by a deficiency of glycogen defoforilase-kinase in the liver and is characterized by the presence of hepatomegaly, hypertransaminasemia and hypoglycemia during fasting. We describe the case of a 10-month-old girl, whose guiding symptoms were abdominal distention and hyperphagia. The diagnosis of glycogenosis was confirmed by genetic study, observing a mutation in the PHKG2 gene, compatible with the diagnosis of type 9C glycogen storage disease. Symptomatic treatment was established, avoiding fasting and increasing the intake of slowly absorbing carbohydrates, with good clinical evolution
Assuntos
Humanos , Feminino , Lactente , Hepatomegalia/diagnóstico por imagem , Transaminases/efeitos dos fármacos , Hipoglicemia/diagnóstico , Hiperfagia/complicações , Dietoterapia , Doença de Depósito de Glicogênio/diagnóstico , Hepatomegalia/fisiopatologia , Transaminases/sangue , Carboidratos/uso terapêutico , Hipoglicemia/sangue , EcocardiografiaRESUMO
Contrast-enhanced voiding urosonography (ceVUS) is a well-established, sensitive and safe ultrasound (US) modality for detecting and grading vesicoureteral reflux (VUR) and urethral imaging in children. Nearly three decades of remarkable advances in US technology and US contrast agents have refined ceVUS's diagnostic potential. The recent approval of Lumason/SonoVue in the United States, Europe and China for pediatric intravesical applications marked the beginning of a new era for this type of contrast US imaging. Consequently, the use of ceVUS in children has expanded to multiple places around the globe. In the first part of this review article, we describe the current experience in the use of ceVUS for VUR evaluation, with an emphasis on historical background, examination technique, image interpretation and diagnostic accuracy. In the second part, we will present the role of ceVUS for urethral imaging in children.
Assuntos
Refluxo Vesicoureteral , Criança , Meios de Contraste , Humanos , Lactente , Masculino , Ultrassonografia , Uretra , Micção , Refluxo Vesicoureteral/diagnóstico por imagemRESUMO
Se presenta el caso de un lactante con agenesia de la vesícula biliar de diagnóstico prenatal. Este hallazgo es poco común. En la mayor parte de los casos se detecta de manera casual durante una exploración quirúrgica. No es infrecuente que produzca sintomatología (25-30%), y cuando lo hace, esta es indistinguible de otras patologías de vías biliares. El reto fundamental en esta entidad es su diagnóstico prequirúrgico, cada día más factible dados los avances en las técnicas de imagen. Dada la baja tasa de complicaciones y la buena evolución de estas, es una entidad con un pronóstico favorable
A case of an infant with prenatally diagnosed gallbladder agenesis is reported. This is an uncommon finding, being detected in most cases by chance during a surgical exploration. It is not uncommon for it to produce symptoms (25-30%), and when it does, it is indistinguishable from other biliary pathologies. The fundamental challenge in this entity is its pre-surgical diagnosis, each day more feasible given the advances in imaging techniques. Given the low rate of complications and their good evolution, it is an entity with a favorable prognosis
Assuntos
Humanos , Masculino , Lactente , Vesícula Biliar/anormalidades , Vesícula Biliar/diagnóstico por imagem , Ultrassonografia Pré-NatalRESUMO
El arco aórtico izquierdo con arteria subclavia derecha aberrante (ARSA) es la anomalía más frecuente del arco aórtico. El diagnóstico prenatal mediante ecocardiografía ha permitido su diagnóstico precoz, pero sigue siendo generalmente un diagnóstico incidental. La mayoría de los casos son asintomáticos, pero una proporción de pacientes cursa con disfagia de predominio para sólidos. En menor medida puede provocar fallo de medro o clínica respiratoria por compresión extrínseca de la vía aérea. El diagnóstico se suele realizar mediante estudio esófago-gastroduodenal con contraste baritado, y otras técnicas útiles son la tomografía computarizada (TC) y la resonancia magnética (RM) con angiografía, así como el ecocardiograma con Doppler color. El tratamiento de elección en pacientes sintomáticos es la cirugía
Left aortic arch with aberrant right subclavian artery is the most frequent anomaly of the aortic arch. Prenatal diagnosis through echographic imaging has allowed early diagnosis, but the entity still remains mainly an incidental finding. Most cases are asymptomatic, but a subset of patients suffer from dysphagia with the intake of solid food. In a small percentage it can cause poor weight gain or respiratory symptoms secondary to extrinsic compression of the airway. Diagnosis relies usually in oesophagography with barium contrast, although computerized tomography and magnetic resonance with angiography have also shown to be useful, as well as echocardiogram with colour Doppler. Surgery is the preferred treatment option for symptomatic patients
Assuntos
Humanos , Feminino , Criança , Artéria Subclávia/anormalidades , Aorta Torácica/anormalidades , Transtornos de Deglutição/etiologia , Anel Vascular/complicações , Malformações Vasculares/diagnóstico por imagemRESUMO
Se presenta el caso de un adolescente con esteatosis pancreática, en contexto de obesidad y en concurrencia con una esteatosis hepática. Dicho hallazgo es poco común en la edad pediátrica. En este rango de edad también se asocia a algunos trastornos genéticos, como la fibrosis quística, el síndrome de Swachmann-Diamond y el síndrome de CLOVES. Se ha demostrado que los pacientes con un páncreas graso tienen mayor riesgo de desarrollar síndrome metabólico, diabetes tipo II, pancreatitis crónica y cáncer de páncreas, motivo por el cual es importante su seguimiento periódico
A case of a teenager with pancreatic steatosis is exposed, in the context of obesity and in the same time of a hepatic steatosis. This is an uncommon finding in the pediatric population. In pediatric age it is associated with some genetic disorders, like cystic fibrosis, Swachmann-Diamond syndrome and CLOVES syndrome. It has been proved that patients with fatty pancreas have an increased risk of developing metabolic syndrome, diabetes mellitus II, chronic pancreatitis and pancreatic cancer, reason why it is crucial a periodic check out
Assuntos
Humanos , Masculino , Criança , Fígado Gorduroso/complicações , Hepatopatia Gordurosa não Alcoólica/complicações , Pancreatopatias/diagnóstico , Obesidade Infantil/complicações , Fatores de Risco , Síndrome Metabólica/complicaçõesRESUMO
Los quistes pancreáticos congénitos son una entidad muy poco frecuente en Pediatría. Se desconoce su causa. Generalmente, son asintomáticos y suponen un hallazgo radiológico casual. Se suelen localizar en la cola o en el cuello del páncreas. Lo más frecuente es que sean lesiones aisladas. De forma puntual se han descrito asociadas a otras enfermedades, como el síndrome de De Jeune, el síndrome de Beckwith-Wiedeman o la enfermedad de von Hippel-Lindau. Su tratamiento clásico ha sido la cirugía. No obstante, dada la benignidad de estas lesiones en la infancia, así como la complejidad que supone el tratamiento quirúrgico, se aconseja un manejo conservador de los mismos
Congenital pancreatic cysts are very rare in childhood. Its cause is unknown. Generally, they are asymptomatic and represent a casual radiological finding. They are usually located int the tail or in the neck of the pancreas. Most often, they are isolated lesions. They have been associated with other diseases, such as De Jeune syndrome, Beckwith-Wiedeman syndrome or von Hippel-Lindau disease. His classic treatment has been surgery. However, given the benign nature of these lesions in childhood, as well as the complexity of surgical treatment, a conservative management of them is advised
Assuntos
Humanos , Feminino , Pré-Escolar , Cisto Pancreático/congênito , Síndrome da Trissomia do Cromossomo 13/genética , Anormalidades Múltiplas/genética , Cisto Pancreático/diagnóstico por imagem , Tratamento ConservadorRESUMO
La presencia de calcificaciones hepáticas fetales puede ser advertida durante el seguimiento ecográfico gestacional. Pueden ser únicas o múltiples, y estar asociadas o no a problemas tales como infecciones connatales o cromosomopatías. Aquellas lesiones aisladas, sin otras alteraciones asociadas, tienen buen pronóstico y cursan en la mayoría de las ocasiones de forma asintomática. Comunicamos dos casos clínicos de pacientes con calcificaciones hepáticas congénitas múltiples. Se revisa el manejo y el pronóstico de esta patología
Fetal hepatic calcifications may be noticed during gestational ultrasound follow-up. They may be unique or multiple, and may be associated with or without problems such as chromosomopaties or prenatal infections. Isolated lesions have a good prognosis and are most often asymptomatic. We communicate two clinical cases of patients with multiple congenital hepatic calcifications. The management and prognosis of this pathology is reviewed
Assuntos
Humanos , Masculino , Lactente , Calcinose/diagnóstico , Hepatopatias/congênito , Diagnóstico Diferencial , Diagnóstico Pré-Natal/métodosRESUMO
Whole-exome sequencing was used to identify the disease gene(s) in a Spanish girl with failure to thrive, muscle weakness, mild facial weakness, elevated creatine kinase, deficiency of mitochondrial complex III and depletion of mtDNA. With whole-exome sequencing data, it was possible to get the whole mtDNA sequencing and discard any pathogenic variant in this genome. The analysis of whole exome uncovered a homozygous pathogenic mutation in thymidine kinase 2 gene ( TK2; NM_004614.4:c.323 C>T, p.T108M). TK2 mutations have been identified mainly in patients with the myopathic form of mtDNA depletion syndromes. This patient presents an atypical TK2-related myopathic form of mtDNA depletion syndromes, because despite having a very low content of mtDNA (<20%), she presents a slower and less severe evolution of the disease. In conclusion, our data confirm the role of TK2 gene in mtDNA depletion syndromes and expanded the phenotypic spectrum.