Guía mexicana para el diagnóstico y el tratamiento del hemangioma infantil.

Infantile hemangioma is a benign vascular tumor, the most common in childhood, whose natural evolution is the disappearance of the lesion in the pediatric age and which has effective and safe treatments that limit its growth and favor its disappearance at younger ages. Infantile hemangioma continues to be a reason for attention to complications, due to erroneous diagnoses, lack of knowledge of the condition, late referral or fear of the effects of the medications used for its treatment. Furthermore, its presence is normalized without taking into account that it can cause uncertainty, anxiety, feelings of guilt and, as a consequence, a significant impact on the quality of life, mainly in the parents or caregivers of the child. The need for a clinical practice guideline in our country arises from the high presentation of late-remitted complications in infantile hemangioma even with the availability of adequate treatments, the continuous evolution of medicine and the appearance of new evidence. Throughout the guide you will find recommendations regarding the diagnosis, treatment and follow-up of patients with infantile hemangioma, taking into account the paraclinical tests that can be performed, topical or systemic management options, as well as adjuvant therapies. For the first time, objective tools for patient follow-up are included in a guide for the management of infantile hemangioma, as well as to help the first contact doctor in timely referral.

El hemangioma infantil es un tumor vascular benigno, el más frecuente de la infancia, cuya evolución natural favorece la desaparición de la lesión en la misma edad pediátrica y que cuenta con tratamientos eficaces y seguros que limitan su crecimiento y favorecen su desaparición a edades más tempranas. Continúa siendo motivo de atención de complicaciones, debido a diagnósticos erróneos, desconocimiento del padecimiento, referencia tardía o temor de los efectos de los fármacos utilizados para su tratamiento. Además, se normaliza su presencia sin tomar en cuenta que puede llegar a causar incertidumbre, ansiedad, sentimientos de culpa y, como consecuencia, importante afectación de la calidad de vida, principalmente en los padres o cuidadores del niño. La necesidad de una guía de práctica clínica en nuestro país surge ante la alta presentación de complicaciones del hemangioma infantil referidas de manera tardía aun con la disponibilidad de tratamientos adecuados, la evolución continua de la medicina y la aparición de nueva evidencia. A lo largo de la guía se encontrarán recomendaciones en relación con el diagnóstico, el tratamiento y el seguimiento de los pacientes con hemangioma infantil, tomando en cuenta los paraclínicos que pueden realizarse, las opciones de manejo tópico o sistémico, y las terapias adyuvantes. Por primera vez se incluyen en una guía para el manejo del hemangioma infantil herramientas objetivas para el seguimiento de los pacientes, así como para ayudar al médico de primer contacto en su referencia oportuna.

Challenges in radiological evaluation of brain metastases, beyond progression.

MRI is the cornerstone in the evaluation of brain metastases. The clinical challenges lie in discriminating metastases from mimickers such as infections or primary tumors and in evaluating the response to treatment. The latter sometimes leads to growth, which must be framed as pseudo-progression or radionecrosis, both inflammatory phenomena attributable to treatment, or be considered as recurrence. To meet these needs, imaging techniques are the subject of constant research. However, an exponential growth after radiotherapy must be interpreted with caution, even in the presence of results suspicious of tumor progression by advanced techniques, because it may be due to inflammatory changes. The aim of this paper is to familiarize the reader with inflammatory phenomena of brain metastases treated with radiotherapy and to describe two related radiological signs: "the inflammatory cloud" and "incomplete ring enhancement", in order to adopt a conservative management with close follow-up.

Los retos en la evaluación radiológica de las metástasis cerebrales, más allá de la progresión / Challenges in radiological evaluation of brain metastases, beyond progression

La resonancia magnética es la piedra angular en la evaluación de las metástasis cerebrales. Los retos clínicos residen en discriminar las metástasis de imitadores como infecciones o tumores primarios y en evaluar la respuesta al tratamiento. Este, en ocasiones, condiciona un crecimiento, que debe encuadrarse como una pseudoprogresión o una radionecrosis, ambos fenómenos inflamatorios atribuibles al mismo, o bien considerarse como una recurrencia. Para responder a estas necesidades, las técnicas de imagen son objeto de constantes investigaciones. No obstante, un crecimiento exponencial tras la radioterapia debe interpretarse con cautela, incluso ante resultados sospechosos de progresión por técnicas avanzadas, ya que puede tratarse de una radionecrosis. El objetivo de este trabajo es familiarizar al lector con los fenómenos inflamatorios de las metástasis cerebrales tratadas con radioterapia y describir dos signos radiológicos relacionados: la «nube inflamatoria» y el «realce en anillo incompleto», con el fin de adoptar un manejo conservador en estos casos.(AU)

MRI is the cornerstone in the evaluation of brain metastases. The clinical challenges lie in discriminating metastases from mimickers such as infections or primary tumors and in evaluating the response to treatment. The latter sometimes leads to growth, which must be framed as pseudo-progression or radionecrosis, both inflammatory phenomena attributable to treatment, or be considered as recurrence. To meet these needs, imaging techniques are the subject of constant research. However, an exponential growth after radiotherapy must be interpreted with caution, even in the presence of results suspicious of tumor progression by advanced techniques, because it may be due to inflammatory changes. The aim of this paper is to familiarize the reader with inflammatory phenomena of brain metastases treated with radiotherapy and to describe two related radiological signs: «the inflammatory cloud» and «incomplete ring enhancement», in order to adopt a conservative management with close follow-up.(AU)

Anomalía de Ebstein: a propósito de un caso

La anomalía de Ebstein es una cardiopatía congénita rara y poco frecuente caracterizada por el adosamiento de los velos valvulares tricuspídeos; en la etapa prenatal se estima que su incidencia corresponde a un 3% de todas las cardiopatías diagnosticadas. Se presenta el caso de un feto con diagnóstico de anomalía de Ebstein a quien se le realizó un diagnóstico prenatal adecuado, lo que permitió planificar el nacimiento neonatal con un equipo multidisciplinario integral. Debido a la rareza del diagnóstico prenatal de esta entidad, se describe el caso clínico y los hallazgos imagenológicos representativos.

Ebsteins anomaly is a rare and infrequent congenital heart disease characterized by the attachment of the tricuspid valve leaflets; in the prenatal stage it is estimated that its incidence corresponds to 3% of all diagnosed heart diseases. We present the case of a fetus diagnosed with Ebsteins anomaly who underwent an adequate prenatal diagnosis, which made it possible to plan the neonatal birth with a comprehensive multidisciplinary team. Due to the rarity of the prenatal diagnosis of this entity, the clinical case and the representative imaging findings are described.

Técnica de Puckett en el tratamiento de mamas tuberosas con lipotransferencia complementaria / The Puckett Technique for Treating Tuberous Breasts with Complementary Lipotransfer

Introducción: La mama tuberosa es una anomalía congénita de la mama que se presenta en la pubertad y es relativamente frecuente. Objetivo: El objetivo de este artículo es dar a conocer el resultado estético del tratamiento quirúrgico de esta afección con la técnica de Pukett sin incluir el implante mamario, con lipotransferencia complementaria. Presentación del caso: Se presenta una paciente femenina, de 25 años de edad, con mama tuberosa grado 4. Se le realiza corrección con técnica de Pukett sin implantes mamarios y en su lugar se usa grasa autóloga. Luego de corregir las anomalías que conforman esta malformación se obtuvo una mama armoniosa sin complicaciones. Conclusión: La técnica de Pukett combinada con lipotransferencia ofrece resultados estéticos y estables en el tratamiento de la mama tuberosa(AU)

Introduction: Tuberous breast is a congenital breast anomaly that presents at puberty and is relatively frequent. Objective: The aim of this article is to report the aesthetic outcome after treating this condition surgically using the Puckett technique without breast implant, with complementary lipotransfer instead. Case presentation: The is presented of a 25-year-old female patient with grade-4 tuberous breast. She is performed a correction using the Puckett technique without breast implants; autologous fat is used instead. After correcting the anomalies that make up this malformation, a harmonious breast was obtained without complications. Conclusion: The Puckett technique combined with lipotransfer offers aesthetic and stable outcomes in the treatment of tuberous breast(AU)

Síndrome de Morning Glory / Morning Glory Syndrome

Introducción: la anomalía congénita del disco óptico conocida como "morning glory" (MG) es un desarrollo anómalo del nervio óptico, caracterizado por una cavidad amplia en forma de embudo del disco en el punto donde salen las fibras del nervio de la retina. Su presentación más frecuente es unilateral. La mayoría de los casos son aislados y no se asocian con anomalías sistémicas. Objetivo: se presenta el caso de un niño de 1 año con MG y los hallazgos imagenológicos. Caso clínico: presentamos el caso de un paciente masculino de 1 año con sospecha de patología visual; en el estudio se realizó resonancia magnética cerebral (RM) en la que se identificó excavación en forma de embudo de la papila del globo ocular izquierdo, alteración en la morfología del quiasma óptico con desplazamiento inferior asimétrico y engrosamiento del infundíbulo y del tallo hipofisiario. Discusión: el diagnóstico de MG es clínico, las imágenes aportan información adicional sobre anomalías oculares, craneofaciales y vasculares asociadas. En este caso además de la lesión ocular había anomalías de estructuras de línea media como el infundíbulo y el tallo hipofisiario, además de engrosamiento quiasmático. Conclusión: la valoración por imágenes en fundamental, no solo para describir la alteración del nervio óptico, si no para identificar y describir anomalías asociadas para realizar manejo integral del paciente.

Introduction: the congenital optic disc anomaly known as morning glory disc anomaly (MGDA) is an alteration of normal optic nerve development, characterized by an enlarged funnel-shaped cavity of the optic disc, the point in the eye where the optic nerve fibers leave the retina. The anomaly is typically unilateral. Most are isolated cases with no associated systemic anomalies. Objective: a case is presented in a one-year-old boy with MGDA and the corresponding imaging findings. Case reports: we present the case of a one-year-old male patient with suspected visual impairment. Cerebral magnetic resonance imaging (MRI) revealed a papillary funnel-shaped excavation in the left eye, alteration in the morphology and inferior asymmetric displacement of the optic chiasm and thickening of the pituitary infundibular stalk. Discussion: MGDA is diagnosed clinically, however, imaging provides additional information regarding the associated ocular, craniofacial and vascular abnormalities. In this case, in addition to the ocular lesion there were abnormalities of midline structures, such as, the pituitary infundibular stalk, as well as, optic chiasm thickening. Conclusion: imaging is fundamental, not only to describe the anatomic alteration of the optic nerve, but also to identify related abnormalities in order to provide patients a comprehensive management

Rare ocular disorder of the optic disc resulting from a defect on the development of the neuroectoderm: morning glory disc anomaly / Trastorno ocular infrecuente del disco óptico resultante de un defecto en el desarrollo del neuroectodermo: anomalía de de morning glory

Introducción: Se describen los signos clínicos de la anomalía de Morning Glory en una paciente femenina. Aunque esta anomalía es de baja prevalencia, la reportamos por la importancia del diagnóstico temprano debido a la asociación con alteraciones vasculares del sistema nervioso central que eventualmente son tratables. Objetivo: describir esta anomalía del disco óptico en una paciente atendida en el Hospital de San José, Bogotá. Métodos: búsqueda en la literatura de las manifestaciones clínicas, incidencia y patologías asociadas. Presentación del caso: mujer que consulta por pobre agudeza visual del ojo derecho cuya fundoscopia reveló una excavación cónica con disco óptico displásico y tejido glial alrededor de la pupila en 360 grados, pigmento retinocoroideo y aumento de los vasos retinianos que emergen del disco en distribución radial.

Introduction: We describe the clinical findings of morning glory optic disc anomaly, in a female patient. Despite the low prevalence of this optic disc malformation and although it has no specific treatment, we report this case, for timely diagnosis is important for associated vascular and central nervous system abnormalities may eventually be treated. Objective: to report this case of morning glory optic disc anomaly in a patient seen at Hospital de San José, Bogotá. Study design: case report. Methods: A search in the literature on the incidence, ophthalmological manifestations, clinical presentation and concomitant pathologies of morning glory optic disc anomaly, was conducted. Case report: female patient that consulted for decreased visual acuity in the right eye. Right eye fundus examination revealed a funnel-shaped excavation, dysplastic optic disc and glial tissue covering the peripapillary region circumferentially (360°), chorioretinal pigmentary changes, and increased number of retinal vessels emerging from the optical disc in a radial pattern.

Relato de caso: aorta dorsal dupla persistente / Case report: persistent double dorsal aorta

Resumo A aorta dorsal dupla persistente é uma anomalia congênita extremamente rara, com apenas 13 casos publicados até o presente momento. Este estudo tem como objetivo apresentar a variação embriológica observada em aorta abdominal do paciente. A descrição anatômica foi realizada a partir da revisão de prontuário eletrônico e exames de imagem. Desta forma, o presente caso refere-se a um paciente idoso de 79 anos admitido em atendimento hospitalar por queixa de dor em membro inferior esquerdo ao repouso. Foi solicitada a internação do mesmo, assim como exames laboratoriais e de imagem. Obtida como um achado de imagem a partir de angiotomografia, a variação consiste na completa separação em duas porções: uma ventral e outra dorsal, de calibres diferentes, da aorta abdominal, ao nível da terceira vértebra lombar. Isso ocorre em conjunto com a origem anômala da artéria mesentérica inferior.

Abstract Persistent double dorsal aorta is an extremely rare congenital anomaly, with only 13 cases published to date. The objective of this study is to present this embryological variant as observed in the abdominal aorta of a patient. The anatomical description was written up on the basis of a review of electronic medical records and imaging exams. The patient in this case was an elderly 79-year-old man who presented at emergency with pain at rest in the left lower limb. He was admitted and laboratory tests and imaging exams were ordered. The variation was an imaging finding observed on angiotomography, consisting of complete separation of the abdominal aorta into two portions - a ventral and a dorsal, with different calibers - at the level of the third lumbar vertebra. There was also an anomalous origin of the inferior mesenteric artery.

Síndrome Klippel-Trenaunay en el embarazo. Reporte de un caso y revisión de la literatura / Klippel-Trenaunay syndrome in pregnancy. Case report and literature review

Resumen Antecedes: El síndrome de Klippel-Trenaunay (KTS) es un síndrome de malformación vascular que comprende una afectación variable de capilares cutáneos, venas y linfáticos con hipertrofia de tejidos blandos y huesos de la extremidad afectada. Durante el embarazo estas malformaciones se incrementan, con afectación pélvica e intraabdominal. Caso clínico: Paciente de 15 años, primigesta, con síndrome Klippel-Trenaunay diagnosticado al nacimiento, con embarazo a término, referida por iniciar con trabajo de parto para finalización del embarazo en un hospital de tercer nivel. No cuenta con control obstétrico, estudios prenatales ni ultrasonidos obstétricos. Se realiza una ecografía pélvica en donde se descartóla presencia de varices pélvicas y un doppler que evidenció un sistema venoso conservado. Se realiza terminación del embarazo vía abdominal obteniendo un recién nacido vivo masculino, peso de 3045 gramos, APGAR 9 y 9 al minuto y a los 5 minutos. Resultados: El embarazo en pacientes con síndrome de Klippel-Trenaunay tiene alto riesgo de tromboembolismo y complicaciones hemorrágicas. La valoración debe ser por un equipo multidisciplinario capacitado para anticiparse a las potenciales complicaciones. Limitaciones del estudio o implicaciones: La principal limitación es la baja incidencia de esta patología. Se puede concluir que el diagnostico de SKT no es indicación de interrupción del embarazo. El éxito del manejo de estas pacientes requiere la participación de un equipo multidisciplinario. Originalidad o valor: Este caso clínico es de primordial relevancia ya que en la bibliografía internacional están reportados menos de 100 casos de embarazos complicados con este síndrome.

Abstract: Background: Klippel-Trenaunay syndrome (KTS) Klippel- Trenaunay syndrome (KTS) is a vascular malformation síndrome that includes variable involvement of skin capillaries, veins and lymphatics with hypertrophy of soft tissues and bones of the affected limb. During pregnancy, these malformations increase, with pelvic and intra-abdominal involvement. Clinical case: 15-year-old patient, gravida 0, with Klippel- Trenaunay syndrome diagnosed at birth, with full-term pregnancy, referred for initiating labor for resolution of pregnancy in a third level hospital. Without obstetric control, without prenatal studies or obstetric ultrasounds. A pelvic ultrasound was performed, which ruled out the presence of pelvic varices and a Doppler that showed a preserved venous system. The pregnancy was terminated by abdominal route, obtaining a male newborn, weighting 3045 grams, APGAR 9 and 9 after 1 and 5 minutes. Results: Pregnancy in patients with Klippel-Trenaunay síndrome has a high risk of thromboembolism and bleeding complications. They should be evaluated by a trained multidisciplinary team to anticipate possible complications. Study limitations or implications: The main limitation is the low incidence of this pathology. It can be concluded thatthe diagnosis of SKT is not an indication for termination of pregnancy. Successful management of these patients requires the participation of a multidisciplinary team. Originality or value: This clinical case is of primary relevance since fewer than 100 cases of complicated pregnancies with this syndrome are reported in the international literature.

Anomalía linfática generalizada en un paciente adulto, un diagnóstico eminentemente radiológico / Generalized lymphatic anomaly in adult patients: an eminently radiological diagnosis

La anomalía linfática generalizada (ALG) es una enfermedad congénita poco frecuente, secundaria a la proliferación de vasos linfáticos en cualquier órgano a excepción del sistema nervioso central, mostrando un amplio abanico de formas de presentación clínicas y radiológicas. Las lesiones osteolíticas son una constante, y las costillas, el hueso más frecuentemente afectado. Se diagnostica principalmente en niños y adultos jóvenes; no obstante, en raras ocasiones la enfermedad puede ser asintomática y detectarse de forma incidental en pacientes de mayor edad. Presentamos un caso inusual de ALG en un paciente de 54 años, asintomático y con presencia de lesiones óseas de distribución atípica en la tomografía computarizada (TC). La naturaleza puramente quística de las lesiones, evidenciada mediante la medición de las unidades Hounsfield, permitió establecer el diagnóstico de sospecha de ALG, que posteriormente se confirmó con resonancia magnética, tomografía por emisión de positrones/TC, punción aspiración con aguja fina guiada por TC y biopsia vertebral percutánea con guía fluoroscópica. Finalmente, se obtuvo el diagnóstico anatomopatológico definitivo tras la resección quirúrgica de una de las lesiones.(AU)

Generalized lymphatic anomaly (GLA) is an uncommon congenital disease secondary to the proliferation of lymphatic vessels in any organ except the central nervous system. GLA has a wide spectrum of clinical and radiological presentations, among which osteolytic lesions are the most widespread, being the ribs the most commonly affected bone. GLA is diagnosed mainly in children and young adults; nevertheless, on rare occasions it can remain asymptomatic and be detected incidentally in older patients. We present an unusual case of GLA in an asymptomatic 54-year-old man who had atypically distributed, purely cystic bone lesions on CT; measuring the Hounsfield (HU) of these lesions enabled us to suspect GLA. This suspicion was confirmed with MRI, PET/CT, CT-guided fine-needle aspiration biopsy, and fluoroscopy-guided percutaneous vertebral biopsy. After surgical resection of one of the lesions, histologic study provided the definitive diagnosis.(AU)

Generalized lymphatic anomaly in adult patients: An eminently radiological diagnosis.

Generalized lymphatic anomaly (GLA) is an uncommon congenital disease secondary to the proliferation of lymphatic vessels in any organ except the central nervous system. GLA has a wide spectrum of clinical and radiological presentations, among which osteolytic lesions are the most widespread, being the ribs the most commonly affected bone. GLA is diagnosed mainly in children and young adults; nevertheless, on rare occasions it can remain asymptomatic and be detected incidentally in older patients. We present an unusual case of GLA in an asymptomatic 54-year-old man who had atypically distributed, purely cystic bone lesions on CT; measuring the Hounsfield (HU) of these lesions enabled us to suspect GLA. This suspicion was confirmed with MRI, PET/CT, CT-guided fine-needle aspiration biopsy, and fluoroscopy-guided percutaneous vertebral biopsy. After surgical resection of one of the lesions, histologic study provided the definitive diagnosis.

Radix em molares decíduos inferiores: revisão sistemática com metanálise / Radix in lower primary molars: systematic review with meta-analysis

Objective: To estimate the prevalence of three roots in deciduous mandibular molars. Methodology: Electronic searches were carried out in PubMed and Scopus to identify cross-sectional studies published up to September 2023. The Joanna Briggs Institute tool was used to critically appraise the studies. STATA 16.0 was used to generate risk of bias figures and perform the meta-analysis. Results: Eighteen studies evaluating 9,067 patients (8,969 first molars and 10,765 second molars) were included in this review. The overall prevalence of radix in mandibular deciduous molars was 9.61% (3.67% for first molars and 18.72% for second molars). The prevalence rate of teeth diagnosed using Cone Beam Computed Tomography (CBCT) was similar to the diagnoses made using conventional radiographic techniques together (periapical, interproximal and panoramic). Final considerations: Lower deciduous molars with three roots have a prevalence of almost 10%, with a higher prevalence in second molars. The diagnosis of this morphological alteration can be made using conventional radiographic techniques, but the use of CBCT is recommended.(AU)

Objetivo: estimar a prevalência de três raízes em molares inferiores decíduos. Metodologia: foram realizadas buscas eletrônicas na PubMed e Scopus para identificar estudos transversais publicados até setembro/2023. Para a avaliação crítica dos estudos foi utilizada a ferramenta do Instituto Joanna Briggs. STATA 16.0 foi usado para gerar figura do risco de viés e realizar a metanálise. Resultados: dezoito estudos que avaliaram 9.067 pacientes (8.969 primeiros molares e 10.765 segundos molares) foram incluídos nesta revisão. A prevalência global de radix em molares decíduos inferiores foi de 9,61% (3,67% para primeiros molares e 18,72% para segundo molares). A taxa de prevalência de dentes com diagnóstico através de Tomografia Computadorizada Cone Beam (TCCB) foi semelhante aos diagnósticos realizados pelas técnicas radiográficas convencionais em conjunto (periapical, interproximal e panorâmica). Considerações finais: os molares decíduos inferiores com três raízes têm uma prevalência de quase 10%, com maior prevalência em segundo molares. O diagnóstico desta alteração morfológica pode ser feito através das técnicas radiográficas convencionais, porém recomenda-se a utilização de TCCB.(AU)

Un caso de leucismo en el Juil de Jamapa, Rhamdia laticauda (Siluriformes, Heptapteridae) en el noreste del estado de Oaxaca, México

Se reporta la primera observación de un espécimen leucístico en el Juil de Jamapa, Rhamdia laticauda en el noreste del estado de Oaxaca. En un estudio ictiológico de la Reserva de la Biosfera Tehuacán-Cuicatlán en el río Xiquila de la cuenca alta del río Papaloapan, el pez se capturó con pesca eléctrica y se fotografió. El bagre vivo mostró una reducción de pigmentos en la piel, manchas blancas y ojos negros normales. Esto contribuye al conocimiento de la variabilidad intraespecífica y la historia natural de R. laticauda. Se discuten las causas potenciales de esta anomalía de color.

Here, we report the first observation of a leucistic specimen in the Rock catfish, Rhamdia laticauda in the Northeast of Oaxaca, Mexico. We caught the specimen by electric fishing and then photographed during an ichthyological survey carried out in the Tehuacán-Cuicatlán Biosphere Reserve in the Xiquila River of the upper Papaloapan River basin. The live catfish showed a lack of pigment in the skin, white spots, and normal eye color. This information contributes to the knowledge about intraspecific variability and natural history of R. laticauda. We discuss the potential causes of this color anomaly.

Conduta obstétrica em caso de hipoplasia materna da veia cava inferior / Obstetric management in case of the maternal inferior vena cava hypoplasia

A hipoplasia da veia cava inferior é uma patologia rara que integra o conjunto de anomalias do desenvolvimento da veia cava inferior. A sua incidência situa-se entre 0,3%-0,5% na população saudável e 5% nos adultos jovens sem fatores de risco para trombose venosa profunda, sendo considerada um importante fator de risco para o desenvolvimento de trombose dos membros inferiores. O principal objetivo deste trabalho é reportar a conduta obstétrica de um caso clínico de uma grávida diagnosticada com hipoplasia da veia cava inferior, prévia à gravidez. Trata-se de um caso clínico, de uma grávida, primigesta, com 37 anos, com hipoplasia da veia cava inferior e heterozigotia para o gene MTHFR677 diagnosticadas, na sequência de uma trombose venosa bilateral dos membros inferiores e do segmento infrarrenal da veia cava inferior. A gravidez foi seguida em consulta hospitalar na nossa instituição, tendo a grávida sido medicada com enoxaparina em dose profilática e ácido acetilsalicílico, com um período pré natal que decorreu sem intercorrências. Às 37 semanas e 6 dias de gestação, deu entrada no Serviço de Urgência de Obstetrícia por rotura prematura de membranas. Intraparto foram utilizadas meias de compressão pneumática intermitente, tendo o parto ocorrido às 38 semanas de gestação por via vaginal (parto eutócico), do qual nasceu um recém-nascido do sexo feminino, com 2620g e índice de Apgar 9/10/10. O presente caso clínico demonstra que em situações de hipoplasia da veia cava inferior com um seguimento obstétrico adequado é possível a realização de um parto vaginal, possibilitando um desfecho obstétrico favorável (AU).

Hypoplasia of the inferior vena cava is a rare condition that belongs to the group of developmental anomalies of the inferior vena cava. It has an incidence between 0.3% and 0.5% in the healthy population and 5% in young adults without risk factors for deep venous thrombosis, being considered an important risk factor for the development of lower limb thrombosis. This study aims to report the obstetric conduct of a clinical case of a pregnant woman diagnosed with hypoplasia of the inferior vena cava prior to pregnancy. This is a clinical case of a pregnant woman, primigravid 37 years old, with hypoplasia of the inferior vena cava and heterozygosity for MTHFR677, diagnosed following a bilateral venous thrombosis of the lower limbs and the infrarenal segment of the inferior vena cava. The pregnancy was followed up in our institution. The pregnant woman was medicated with a prophylatic dose of low molecular weight heparin and acetylsalicylic acid with an uneventful prenatal period. At 37 weeks and 6 days of gestation, she was admitted to the Obstetrics Emergency Service due to premature rupture of membranes. Intermittent pneumatic compression sockings were used intrapartum, and at 38 weeks of gestation, a female newborn was vaginally delivered (eutocic delivery) with 2620g and an Apgar score of 9/10/10. The present clinical case demonstrates that in situations of hypoplasia of the inferior vena cava with an adequate obstetric follow-up, it is possible to perform a vaginal delivery, enabling a favourable obstetric outcome (AU).

Anomalía congénita en miembro superior derecho: reporte de un caso de Sindrome de Roberts Focomelia en La Paz, Bolivia / Congenital anomaly in the right upper limb: a case report of Roberts Focomelia syndrome in La Paz, Bolivia

El síndrome de Roberts es una alteración de origen genético, donde sus principales características clínicas son el acortamiento severo de las extremidades (focomelia) de predominio en miembros superiores, mismo que conlleva todo un grupo de diferentes entidades clínicas que engloban el síndrome. La importancia de los controles prenatales, antecedentes de relevancia por parte de la madre y el control ecográfico obstétrico, son clave para un diagnóstico oportuno de la focomelia. Se reporta un caso de un neonato, producto de la tercera gestación, madre sin antecedentes de relevancia, nace vigoroso, con llanto activo, donde al examen físico se evidencia hipoplasia de radio, cubito, mano y dedos en extremidad superior derecha, mismo que se confirma con placa de rayos K con evidencia de focomelia en los segmentos ya mencionados, manteniendo un seguimiento del cuadro.

Artéria subclávia direita aberrante: relato de caso e revisão de literatura / Aberrant right subclavian artery: case report and literature review

Resumo A artéria subclávia direita aberrante, também conhecida como artéria lusória, é a anomalia do arco aórtico mais comum, ocorrendo entre 0,5 e 1% da população. Possui prevalência em mulheres e normalmente está associada a outras variações anatômicas, como o nervo laríngeo não recorrente, presente em 86,7% dos casos. Em sua maioria, a artéria subclávia direita aberrante não apresenta sintomas. Descrevemos essa alteração em uma paciente de 82 anos, hipertensa e assintomática, que havia sido submetida a uma angiotomografia toracoabdominal para a avaliação de uma dissecção crônica tipo III (DeBakey) associada à dilatação de aorta descendente. No achado, a artéria subclávia direita aberrante apresentava percurso retroesofágico associado a um divertículo de Kommerell. Devido à raridade, realizamos revisão bibliográfica integrativa das bases de dados MEDLINE, UpToDate, LILACS, SciELO e Portal CAPES dos últimos 6 anos e discutimos as alterações anatômicas mais frequentes, a sintomatologia e as condutas terapêuticas adotadas.

Abstract The aberrant right subclavian artery, also known as the arteria lusoria, is the most common aortic arch anomaly, occurring in 0.5 to 1% of the population. There is a higher prevalence in women and it is usually associated with other anatomical variations, such as the non-recurrent laryngeal nerve, present in 86.7% of cases. In the majority of cases, the aberrant right subclavian artery causes no symptoms. We describe this anomaly in an 82-year-old, hypertensive, and asymptomatic patient who had undergone a thoracoabdominal angiography to investigate a chronic DeBakey type III aortic dissection with dilation of the descending aorta. The aberrant right subclavian artery followed a retroesophageal course and was associated with a Kommerell diverticulum. In view of its rarity, we conducted an integrative bibliographic review of literature from the last 6 years indexed on the Medline, UpToDate, Lilacs, Scielo, and Portal Capes databases and discuss the most frequent anatomical changes, symptomatology, and therapeutic management adopted.

Tratamiento quirúrgico inmediato en niños con perforación espontánea de la vía biliar. Experiencias de 16 años

Introducción: La perforación espontánea de los conductos biliares es una rara enfermedad caracterizada por una disrupción no traumática de la vía biliar en pacientes aparentemente sanos. Se trata de una grave situación potencialmente letal, pero diagnosticada y tratada correctamente tiene un pronóstico excelente. Objetivo: Caracterizar los principales elementos clínico-quirúrgicos expresados en una serie de 5 pacientes operados en un servicio de referencia nacional. Presentación de casos: Se presenta la experiencia con una serie de casos en 16 años en una sola institución. La afección se observó en niñas recién nacidas y lactantes con una edad media de 4 meses, y se presentó desde la clínica como una colestasis acompañada de distensión abdominal, ascitis biliar, acolia, y signos de irritación peritoneal. El 80 % de los casos se intervinieron en el hospital "William Soler", y en un caso se ejecutó el procedimiento después de una laparotomía por una posible apendicitis aguda, en otro hospital. El diagnóstico se basó en el cuadro clínico descrito, la ecografía abdominal, la paracentesis con medición del índice bilirrubina líquido ascítico/bilirrubina sérica, y la colangiografía intraoperatoria. La cirugía definitiva se realizó inmediatamente, y consistió en: lavado peritoneal, colangiografía diagnóstica, reparación hepaticoyeyunostomía en Y de Roux y colocación de drenaje. Conclusiones: El tratamiento realizado resulta eficaz y seguro en todos los casos, con una excelente evolución, sin complicaciones importantes y con una total supervivencia posoperatoria. La colangiografía intraoperatoria permitió identificar el sitio de la perforación y diagnosticar malformaciones asociadas como dilataciones biliares congénitas y anomalías de la unión bilio-pancreática.

Introduction: Spontaneous bile duct perforation is a rare condition characterized by non-traumatic disruption of the bile duct in apparently healthy patients. It is a serious potentially lethal situation, but correctly diagnosed and treated its prognosis is excellent. Objetive: To characterize the main clinical-surgical elements expressed in a series of 5 patients operated in a national referral service. Case presentation: The experience with a series of cases during a period of 16 years in a single institution is presented. The condition was observed mainly in newborn girls and infants with an average age of 4 months, and presented clinically as cholestasis accompanied by abdominal distension, biliary ascites, acholia, and signs of peritoneal irritation. 80% of the cases were operated primarily in the "William Soler" hospital, and in one case the procedure was performed after a laparotomy for a possible acute appendicitis, in another hospital. The diagnosis was based on the clinical picture described, abdominal ultrasound, paracentesis with measurement of the ascitic liquid bilirubin/serum bilirubin index, and intraoperative cholangiography. Definitive surgery was performed immediately and consisted of: peritoneal lavage, diagnostic cholangiography, Roux-en-Y liver and jejunostomy repair and drainage placement. Conclusions: The treatment performed was effective and safe in all cases, with an excellent evolution, no major complications and total postoperative survival. Intraoperative cholangiography made it possible to identify the site of perforation and to diagnose associated malformations such as congenital biliary dilatations and anomalies of the biliary-pancreatic junction.

Diagnóstico antenatal de cardiopatías congénitas por telemedicina: experiencia en CERPO, 2017-2022 / Antenatal diagnosis of congenital heart disease by telemedicine: experience in CERPO, 2017-2022

Introducción: Las cardiopatías congénitas son las anomalías más frecuentes y la principal causa de muerte infantil y neonatal. El diagnóstico prenatal mejora el resultado perinatal determinando el lugar de nacimiento y el nivel de cuidado neonata. La telemedicina mediante videoconferencia en tiempo real permite mejorar la precisión diagnóstica y planificar el nacimiento. Objetivo: Determinar el diagnóstico y manejo perinatal de fetos con sospecha de cardiopatía congénitas, evaluadas a través de telemedicina en tiempo real atendidas en CERPO en el periodo 2017-2022. Material y métodos: Estudio retrospectivo de las evaluaciones mediante telemedicina en tiempo real realizadas en CERPO entre los años 2017 a 2022. Se revisó el resultado perinatal y se compararon los diagnósticos pre y postnatales, extraídos de la base de datos CERPO y Unidad de Neonatología del Hospital Luis Tisné Brousse. Resultados: La correlación del diagnóstico de cardiopatía congénita mediante telemedicina es de un 81,8% y de 89,8% con el diagnostico posnatal. Conclusiones: La evaluación por medio de telemedicina permite mejorar la precisión diagnostica de la cardiopatía congénita en áreas con escaso acceso a operadores experimentados en evaluación cardiaca fetal. Esto minimiza el impacto económico y social asociado al manejo perinatal de un feto con cardiopatía congénita en nuestro país.

Introduction: Congenital heart disease is the most common anomaly and the leading cause of infant and neonatal death. Prenatal diagnosis improves perinatal outcomes by choosing the right place of birth and level of neonatal care. Telemedicine by videoconferencing in real-time allows for improved diagnostic accuracy and birth planning. Objective: To determine the diagnosis and perinatal management of fetuses with suspected congenital heart disease, evaluated by telemedicine at CERPO in the period 2017-2022. Material and Methods: Retrospective study of evaluations via real-time videoconferencing performed at CERPO between 2017-2022. The perinatal outcome was reviewed, and pre and postnatal diagnoses were compared. The data was extracted from the CERPO database and the Neonatology Unit of the Luis Tisné Brousse Hospital. Results: The correlation of congenital heart disease diagnosis by telemedicine was 81.8% and 89.8% with postnatal diagnosis. Conclusions: Telemedicine assessment improves the diagnostic accuracy of congenital heart disease in areas with poor access to an experienced fetal cardiac specialist. This minimizes the economic and social impact associated with our countrys perinatal management of a fetus with congenital heart disease.