Evaluation of coeliac trunk and hepatic artery variations in thoracic CT angiography in patients with congenital heart disease.

INTRODUCTION: Understanding the variations of abdominal vascular structures is important for preventing complications of abdominal surgical procedures for gastrointestinal disease such as necrotizing enterocolitis or others that may arise in patients with congenital cardiac disease. We analysed the coeliac trunk and its branches in children with congenital heart disease to determine whether there is a greater prevalence of associated vascular abnormalities. METHODS: We retrospectively analysed thoracic computed tomography (CT) angiograms performed in our hospital in paediatric patients with congenital heart disease. We documented the anatomical variations observed in abdominal sections in which the coeliac trunk and hepatic arteries were included in the field of view. We used the Uflacker classification to describe anatomical variants of the coeliac trunk, and the Michels classification and its modified version (Hiatt classification) to describe the anatomy of the hepatic artery system. RESULTS: Our study included 178 patients with congenital heart disease. We identified coeliac trunk variants in 10.7% of the patients. Gastrosplenic trunk was to the most prevalent variant, amounting to 5.6% of total cases. We found hepatic artery variations in 19.1% of the patients. According to the Michels classification, the prevalence of accessory left hepatic artery arising from the left gastric artery as 4.5%, compared to 6.7% based on the Hiatt classification. CONCLUSION: The prevalence of coeliac trunk and hepatic artery variations in patients with congenital heart disease was not greater in our study compared to other series in the literature. Clinicians must be vigilant about the variations detected in multislice CT scans to avoid complications resulting from vascular abnormalities, especially in patients who undergo abdominal surgery.

[Translated article] Congenital and Hereditary Nail Disease.

Nail disorders in newborns can show independently or as components of systemic illnesses or genodermatoses. The examination of these abnormalities is complex and sometimes challenging. However, familiarity with these disorders can significantly contribute to uncovering potential underlying conditions. This review includes the physiological nail changes seen within the first few months of life, such as Beau's lines, onychoschizia, koilonychia, congenital nail fold hypertrophy of the first digit, and onychocryptosis. This review also focuses on the most relevant congenital disorders reported and how to perform differential diagnosis. Finally, this review highlights those hereditary diseases in which nail involvement is crucial for diagnosis, such as nail-patella syndrome, congenital pachyonychia, or congenital dyskeratosis, among others.

Enteric duplication cysts in paediatric population along with literature review / Quistes de duplicación entérica en población pediátrica y revisión de la literatura

The clinical presentation of enteric duplication cysts is dependent on the location of the cyst with symptoms varying from nausea and vomiting to abdominal distension, pain and perforation. Four patients were identified who were diagnosed with enteric duplication cysts within the period from 2019 to 2023. Three of the patients presented with signs of intestinal obstruction-abdominal distension and pain, while one had an antenatally detected abdominal mass. There were three boys and one girl with ages ranging from 4 months to 14 years. Three cases of ileal and one case of caecal duplication cyst were reported. Most of the cases showed ileal/caecal mucosa while one case demonstrated ectopic gastric mucosa. The treatment of these cysts includes surgical excision. Although radiological investigations help in arriving at a provisional diagnosis, the final diagnosis can be confirmed only after histopathological examination. Early treatment prevents complications and results in a good prognosis for the patient. (AU)

La presentación clínica de los quistes de duplicación entérica depende de la ubicación del quiste, y los síntomas varían desde náuseas y vómitos hasta distensión abdominal, dolor y perforación. Se identificaron cuatro pacientes que fueron diagnosticados con quistes de duplicación entérica en el período de 2019 a 2023. Tres de los pacientes presentaron signos de obstrucción intestinal (distensión abdominal y dolor), mientras que uno tenía una masa abdominal detectada prenatalmente. Eran tres niños y una niña con edades comprendidas entre 4 meses y 14 años. Se notificaron tres casos de quiste de duplicación ileal y un caso de quiste de duplicación cecal. La mayoría de los casos mostraron mucosa ileal/cecal, mientras que un caso mostró mucosa gástrica ectópica. El tratamiento de estos quistes incluye la escisión quirúrgica. Aunque las investigaciones radiológicas ayudan a llegar a un diagnóstico provisional, el diagnóstico final solo puede confirmarse después del examen histopatológico. El tratamiento precoz previene complicaciones y redunda en un buen pronóstico para el paciente. (AU)

Fractura craneal deprimida congénita ("fractura ping-pong") en neonatos como diagnóstico diferencial de maltrato físico / Congenital depressed skull fracture ("ping-pong" fracture) in newborn infants as a differential diagnosis of physical abuse

Las fracturas con hundimiento de cráneo sin una explicación clara sobre su origen orientan al traumatismo con un objeto romo y a la sospecha de maltrato infantil. En el caso de los bebés recién nacidos, su corta edad es un factor de vulnerabilidad y obliga a una exhaustiva evaluación. Ante la sospecha de maltrato infantil, resulta importante evaluar los diagnósticos diferenciales para realizar la intervención más adecuada posible. Es necesario evitar tanto intervenciones excesivas como omitir la intervención que sea necesaria. Las fracturas craneales deprimidas congénitas, descritas como "fracturas pingpong", son raras (0,3 a 2/10 000 partos). Pueden aparecer sin antecedentes traumáticos o en partos instrumentalizados. Se describe en este artículo el caso de un recién nacido con una fractura ping-pong como ejemplo de una fractura no intencional.

Depressed skull fractures without a clear explanation as to their origin point to trauma with a blunt object and suspected child abuse. In the case of newborn infants, their young age is a vulnerability factor and requires an exhaustive assessment. When child abuse is suspected, an assessment of the differential diagnoses is required to make the most appropriate intervention possible. Both an excessive intervention and an omission of a necessary intervention should be avoided. Congenital depressed skull fractures, described as "ping-pong fractures", are rare (0.3 to 2/10 000 births). They may appear without any trauma history or in instrumentalized childbirth. Here we describe the case of a newborn infant with a ping-pong fracture as an example of an accidental fracture.

Enteric duplication cysts in paediatric population along with literature review.

The clinical presentation of enteric duplication cysts is dependent on the location of the cyst with symptoms varying from nausea and vomiting to abdominal distension, pain and perforation. Four patients were identified who were diagnosed with enteric duplication cysts within the period from 2019 to 2023. Three of the patients presented with signs of intestinal obstruction-abdominal distension and pain, while one had an antenatally detected abdominal mass. There were three boys and one girl with ages ranging from 4 months to 14 years. Three cases of ileal and one case of caecal duplication cyst were reported. Most of the cases showed ileal/caecal mucosa while one case demonstrated ectopic gastric mucosa. The treatment of these cysts includes surgical excision. Although radiological investigations help in arriving at a provisional diagnosis, the final diagnosis can be confirmed only after histopathological examination. Early treatment prevents complications and results in a good prognosis for the patient.

Congenital and Hereditary Nail Disease. / Enfermedad ungueal congénita y hereditaria.

Nail disorders in newborns can show independently or as components of systemic illnesses or genodermatoses. The examination of these abnormalities is complex and sometimes challenging. However, familiarity with these disorders can significantly contribute to uncovering potential underlying conditions. This review includes the physiological nail changes seen within the first few months of life, such as Beau's lines, onychoschizia, koilonychia, congenital nail fold hypertrophy of the first digit, and onychocryptosis. This review also focuses on the most relevant congenital disorders reported and how to perform differential diagnosis. Finally, this review highlights those hereditary diseases in which nail involvement is crucial for diagnosis, such as nail-patella syndrome, congenital pachyonychia, or congenital dyskeratosis, among others.

Aneurisma de la vena yugular interna, presentación de caso en adulto / Internal jugular venous aneurysm in an adult: case report

Se presenta el caso de una paciente de 77 años, en quien, durante una cirugía de resección de tumor cutáneo, se observa incidentalmente aumento de volumen cervical derecho de características dinámicas. El hallazgo corresponde a un aneurisma de la vena yugular interna derecha, diagnóstico de mayor frecuencia en población pediátrica, habitualmente de curso benigno.

A 77-year-old woman in whom, during a skin tumor resection surgery, a right cervical swelling with dynamic characteristics was observed. The finding is compatible with an aneurysm of the right internal jugular vein, more commonly obsered in children, usually with a benign course.

Detección y caracterización de defectos del campo visual mediante perimetría Octopus en glaucoma congénito primario / Detection and characterisation of visual field defects using Octopus perimetry in congenital glaucoma

Detectar y caracterizar los defectos del campo visual (CV) mediante perimetría Octopus en pacientes con glaucoma congénito primario (GCP) y determinar la calidad y duración del CV. Material y métodos: Se incluyeron 88 ojos de 70 pacientes diagnosticados de GCP. Las evaluaciones se realizaron con un Octopus 900 y cada ojo se evaluó con el algoritmo de perimetría orientada por tendencias (G-TOP). Se recogieron datos cuantitativos de CV: datos de calidad (respuestas falsa positiva y negativa, y duración del tiempo) y resultados de desviación media (DM) y raíz cuadrada de la varianza de pérdida (sLV). También se recogieron datos cualitativos: presencia de defectos difusos y localizados, hemicampo afectado y grado de defectos utilizando la clasificación de Aulhorn y Karmeyer. Se analizaron las correlaciones entre los resultados perimétricos y las variables clínicas. Resultados: La mediana de edad fue de 11 (8-17) años. El 65,9% (58/88) de los ojos con GCP presentaban defectos de CV. Se observaron defectos difusos en 10/58 ojos (16,94%) (DM media=23,92 [DE: 2,52]) dB) y defectos localizados en 48/58 ojos (82,75%). El defecto más frecuente fue el escotoma incipiente paracentral (n=15), el escalón nasal (n=8), el defecto arciforme añadido (n=2), el semianular (n=13) y el defecto concéntrico con isla central (n=9). El hemicampo visual afectado con mayor frecuencia fue el inferior. La duración media de la prueba fue de 2min 12s (DE: 21,6s). Los valores MD y sLV se correlacionaron con la agudeza visual mejor corregida, la relación excavación/disco y el número de cirugías de glaucoma (todas p<0,001). Conclusión: Se identificó un alto número de defectos difusos y localizados utilizando la perimetría Octopus en pacientes con GCP. El defecto más frecuente fue el escotoma paracentral, y el hemicampo inferior fue el más afectado.(AU)

Purpose: To detect and characterise visual field (VF) defects using static Octopus perimetry in patients with primary congenital glaucoma (PCG) and to determine VF quality and time duration. Material and methods: Eighty-eight eyes of 70 patients diagnosed with PCG were included. Assessments were performed using an Octopus 900 and each eye was assessed with the tendency-oriented perimetry (G-TOP) algorithm. Quantitative VF data were collected: quality data (false positive and negative response, and time duration) and results of mean deviation (MD) and square root of loss variance (sLV). Qualitative data were collected: the presence of diffuse and localized defects, the affected hemifield and grade of defects using the Aulhorn and Karmeyer classification. Correlations between perimetric results and clinical variables were analysed. ResultsMedian age was 11 (8-17) years. 65.9% (58/88) of PCG eyes showed VF defects. Diffuse defects were observed in 10/58 eyes (16.94%) (mean MD=23.92 [SD: 2.52]) dB) and localized defects in 48/58 eyes (82.75%). The most frequent defect was spot-like/stroke-like/incipient paracentral scotoma (n=15), nasal step (n=8), adding arcuate defect (n=2), half ring-shaped (n=13) and concentric defect with a central island (n=9). And the most frequent affected visual hemifield was inferior hemifield. Mean test duration was 2min 12s (SD: 21.6s). MD and sLV values were correlated with best corrected visual acuity (BCVA), cup to disc ratio and number of antiglaucoma surgeries (all P<.001). Conclusion: A high number of diffuse and localized defects were identified using Octopus perimetry in PCG patients. The most frequent defect was paracentral scotoma and inferior hemifield was the most affected.(AU)

Prevalence of neonatal lupus in a small group of antibody-carrying mothers and frequency of complete atrioventricular block.

BACKGROUND: Neonatal lupus (NL) is extremely rare and is caused by the transplacental passage of maternal IgG autoantibodies against Ro, La, and/or RNP proteins into the fetal circulation, which can cause congenital complete atrioventricular block (CCAB), permanent skin lesions, and liver involvement. OBJECTIVE: To know the prevalence of NL in patients with CCAB and the clinical course in long-term follow-up. METHODS: From January 1992 to December 2017, patients with CCAB were included. The presence of anti-SSA/Ro and anti-SSB/La antinuclear antibodies in maternal serum confirmed NL. RESULTS: Eight patients were included with a follow-up of 10 ± 6 years; NL was concluded in 62.5%; two were male. One of them was diagnosed in utero, two at birth, and a pacemaker was implanted in them, one at 12 years of age and another at 15. The other two cases were diagnosed at 18 and 26 years of age, and permanent pacemakers were implanted 8 and 5 years later, respectively. In one case, a definitive pacemaker was not implanted in a newborn with only 1 year of follow-up. At delivery, 60% of the mothers were free of rheumatic disease, and altogether, they all had 19 children; none of them presented NL manifestations. CONCLUSIONS: CCAB is rare and frequently associated with a maternal autoimmune disease, practically all of them will require a definitive pacemaker at some point in their lives.

ANTECEDENTES: El lupus neonatal (LN) es extremadamente raro y es ocasionado por el paso transplacentario de auto-anticuerpos maternos IgG contra las proteínas Ro, La y/o RNP a la circulación fetal que puede ocasionar bloqueo aurículo-ventricular completo congénito (BAVCC) permanente, lesiones dérmicas y afectación hepática. OBJETIVO: Conocer la prevalencia de LN en paciente con BAVCC y la evolución clínica en un seguimiento a largo plazo. MÉTODOS: De enero de 1992 a diciembre 2017 se incluyeron paciente con BAVCC. La presencia de anticuerpos antinucleares anti-SSA/Ro y anti-SSB/La en suero materno confirmó LN. RESULTADOS: Ocho pacientes fueron incluidos con seguimiento de 10 ± 6 años, el 62.5 % con LN; dos fueron del sexo masculino. Uno diagnosticado in útero, dos al nacimiento, en ellos se implantó marcapaso; uno a los 12 años de edad y otro a los 15. Los otros dos casos fueron diagnosticados a los 18 y 26 años, se implantó marcapaso definitivo en ellos 8 y 5 años después respectivamente. En un caso no se implantó marcapaso definitivo; un recién nacido con solo un año de seguimiento. Al dar a luz, el 60 % de las madres estaban libres de enfermedad reumática y en conjunto todas tuvieron 19 hijos, ninguno de ellos presentó manifestaciones de LN. CONCLUSIONES: El BAVCC es raro y frecuentemente está asociado a una enfermedad autoinmune materna, prácticamente todos requerirán de marcapaso definitivo en alguna época de su vida.

Prevalence of neonatal lupus in a small group of antibody-carrying mothers and frequency of complete atrioventricular block / Prevalencia de lupus neonatal en un pequeño grupo de madres portadoras de anticuerpos y frecuencia de bloqueo auriculoventricular completo

Abstract Background: Neonatal lupus (NL) is extremely rare and is caused by the transplacental passage of maternal IgG autoantibodies against Ro, La, and/or RNP proteins into the fetal circulation, which can cause congenital complete atrioventricular block (CCAB), permanent skin lesions, and liver involvement. Objective: To know the prevalence of NL in patients with CCAB and the clinical course in long-term follow-up. Methods: From January 1992 to December 2017, patients with CCAB were included. The presence of anti-SSA/Ro and anti-SSB/La antinuclear antibodies in maternal serum confirmed NL. Results: Eight patients were included with a follow-up of 10 ± 6 years; NL was concluded in 62.5%; two were male. One of them was diagnosed in utero, two at birth, and a pacemaker was implanted in them, one at 12 years of age and another at 15. The other two cases were diagnosed at 18 and 26 years of age, and permanent pacemakers were implanted 8 and 5 years later, respectively. In one case, a definitive pacemaker was not implanted in a newborn with only 1 year of follow-up. At delivery, 60% of the mothers were free of rheumatic disease, and altogether, they all had 19 children; none of them presented NL manifestations. Conclusions: CCAB is rare and frequently associated with a maternal autoimmune disease, practically all of them will require a definitive pacemaker at some point in their lives.

Resumen Antecedentes: El lupus neonatal (LN) es extremadamente raro y es ocasionado por el paso transplacentario de auto-anticuerpos maternos IgG contra las proteínas Ro, La y/o RNP a la circulación fetal que puede ocasionar bloqueo aurículo-ventricular completo congénito (BAVCC) permanente, lesiones dérmicas y afectación hepática. Objetivo: Conocer la prevalencia de LN en paciente con BAVCC y la evolución clínica en un seguimiento a largo plazo. Métodos: De enero de 1992 a diciembre 2017 se incluyeron paciente con BAVCC. La presencia de anticuerpos antinucleares anti-SSA/Ro y anti-SSB/La en suero materno confirmó LN. Resultados: Ocho pacientes fueron incluidos con seguimiento de 10 ± 6 años, el 62.5 % con LN; dos fueron del sexo masculino. Uno diagnosticado in útero, dos al nacimiento, en ellos se implantó marcapaso; uno a los 12 años de edad y otro a los 15. Los otros dos casos fueron diagnosticados a los 18 y 26 años, se implantó marcapaso definitivo en ellos 8 y 5 años después respectivamente. En un caso no se implantó marcapaso definitivo; un recién nacido con solo un año de seguimiento. Al dar a luz, el 60 % de las madres estaban libres de enfermedad reumática y en conjunto todas tuvieron 19 hijos, ninguno de ellos presentó manifestaciones de LN. Conclusiones: El BAVCC es raro y frecuentemente está asociado a una enfermedad autoinmune materna, prácticamente todos requerirán de marcapaso definitivo en alguna época de su vida.

Infección congénita por citomegalovirus, hipoacusia y tamizaje neonatal. Una actualización / Congenital cytomegalovirus infection, hearing loss and newborn screening. An update

El citomegalovirus congénito (CMVc) es la infección congénita más común y la principal causa no genética de hipoacusia congénita. Gran parte de los recién nacidos (RN) con CMVc sintomático desarrolla secuelas graves permanentes, donde la hipoacusia es la más frecuente. Sin embargo, el 90% de los casos se presenta en forma asintomática, pudiendo desarrollar secuelas auditivas tardías. El diagnóstico precoz de CMVc requiere un alto índice de sospecha. Actualmente, técnicas eficientes para su detección están disponibles, lo que facilita el diagnóstico en las primeras 3 semanas de vida. La terapia antiviral es la primera línea de tratamiento para el CMVc sintomático, logrando buenos resultados auditivos. A pesar de los avances en los métodos de detección y beneficios del tratamiento, los RN no son tamizados para CMVc. El tamizaje selectivo de CMVc en pacientes que no pasan el screening auditivo facilita la intervención precoz en los casos identificados, pero no permite detectar el número significativo de niños que presenta hipoacusia de aparición tardía. El tamizaje universal permite hacer seguimiento auditivo a los pacientes en riesgo de desarrollar hipoacusia sensorioneural (HSN) por CMVc, identificando así los casos de hipoacusia de aparición tardía, pero la costo-efectividad es aún controversial. Es necesario avanzar en una estrategia local para el tamizaje de CMVc, buscando reducir su impacto a nivel nacional.

Congenital cytomegalovirus (cCMV) is the most common congenital infection and the main non-genetic cause of congenital hearing loss. A significant number of newborns (NB) with symptomatic cCMV will develop permanent serious sequelae, being hearing loss the most frequent. However, 90% of the cases are asymptomatic and may develop late auditory sequelae. Early diagnosis of cCMV requires a high index of suspicion. Currently, efficient detection techniques for its detection are available, which facilitates diagnosis within the first 3 weeks of life. Antiviral therapy is the first line of treatment for symptomatic cCMV, achieving good hearing results. Despite advances in detection methods and the benefits of antiviral therapy, NB are not routinely screened for cCMV. Selective screening for cCMV in patients who fail newborn hearing screening facilitates early intervention in identified cases but fails to detect a significant number of children with late onset hearing loss. Universal screening allows hearing follow up in patients at risk of developing sensorineural hearing loss (SNHL) due to cCMV, thus identifying late-onset hearing loss cases, but cost-effectiveness is still controversial. It is necessary to advance in a local strategy for cCMV screening, aiming to reduce its national impact.

Analysis of selective screening for congenital cytomegalovirus in a secondary hospital: Problems and solutions.

Universal hearing screening offers unique possibilities for detection of congenital deafness as a consequence of congenital cytomegalovirus (CMVc) infection, so its selective study in the case of a failed test could be a non-negligible screening opportunity while other guidelines covering the possibility of universal screening are adopted. The aim of this study is to analyse the possibility of selective screening for CMVc after an altered hearing test in a regional hospital. During the period studied, the results obtained were unsatisfactory, especially in children born outside the hospital of residence, showing an excessive delay in hearing screening in many cases and in the few cases where CMVc screening could be performed, only 30% had the test ordered in a timely manner. The reasons for this are varied and the solution is to include selective screening for CMVc in the hearing screening programme. This implies shortening the timing of the hearing screening protocol to allow CMVc testing in saliva or urine (preferably) before 21 days of age and providing screening programmes with the necessary staff and time to perform it properly.

Detection and characterisation of visual field defects using Octopus perimetry in congenital glaucoma.

PURPOSE: To detect and characterise visual field (VF) defects using static Octopus perimetry in patients with primary congenital glaucoma (PCG) and to determine VF quality and time duration. MATERIAL AND METHODS: Eighty-eight eyes of 70 patients diagnosed with PCG were included. Assessments were performed using an Octopus 900 and each eye was assessed with the tendency-oriented perimetry (G-TOP) algorithm. Quantitative VF data were collected: quality data (false positive and negative response, and time duration) and results of mean deviation (MD) and square root of loss variance (sLV). Qualitative data were collected: the presence of diffuse and localized defects, the affected hemifield and grade of defects using the Aulhorn and Karmeyer classification. Correlations between perimetric results and clinical variables were analysed. RESULTS: Median age was 11 (8-17) years. 65.9% (58/88) of PCG eyes showed VF defects. Diffuse defects were observed in 10/58 eyes (16.94%) (mean MD = 23.92 [SD: 2.52]) dB) and localized defects in 48/58 eyes (82.75%). The most frequent defect was spot-like/stroke-like/incipient paracentral scotoma (n = 15), nasal step (n = 8), adding arcuate defect (n = 2), half ring-shaped (n = 13) and concentric defect with a central island (n = 9). And the most frequent affected visual hemifield was inferior hemifield. Mean test duration was 2 min 12 s (SD: 21.6 s). MD and sLV values were correlated with best corrected visual acuity (BCVA), cup to disc ratio and number of antiglaucoma surgeries (all P < .001). CONCLUSION: A high number of diffuse and localized defects were identified using Octopus perimetry in PCG patients. The most frequent defect was paracentral scotoma and inferior hemifield was the most affected.

Infección congénita por citomegalovirus en neonatos muy bajo peso / Congenital cytomegalovirus infection in very low birth weight neonates

Introducción: La infección congénita por el citomegalovirus en neonatos menores de 1500 gramos puede ser causa de morbilidad, mortalidad y discapacidad. Objetivo: Describir el comportamiento de la infección congénita por citomegalovirus en un servicio de neonatología. Métodos: Se realizó un estudio descriptivo y transversal con 61 neonatos. Se les realizó detección de citomegalovirus en la primera semana de vida en suero y orina, mediante reacción en cadena de la polimerasa, para determinar infección congénita. Se evaluaron variables perinatales en todos los neonatos, así como elementos clínicos y resultados de exámenes complementarios en los infectados. Resultados: La incidencia de infección congénita fue de un 10 por ciento (6/61). El 5 por ciento de los estudios fueron positivos (6/122). Ninguna muestra de orina resultó positiva (0/61) y en el 10 por ciento de las muestras de suero (6/61) se detectó el genoma del virus. Se encontró asociación entre valoración nutricional al nacer e infección por citomegalovirus (p< 0,05). El 83 por ciento de los neonatos infectados presentaron algún signo clínico y el síndrome de dificultad respiratoria fue el más frecuente (67 por ciento). En todos los neonatos con infección congénita el ultrasonido cerebral fue normal y en el 33 por ciento se detectó retinopatía de la prematuridad en el fondo de ojo. Conclusiones: La incidencia de infección congénita por citomegalovirus es alta en este grupo de riesgo. Los signos clínicos encontrados y los resultados del fondo de ojo en neonatos con infección congénita se relacionaron con la prematuridad y la valoración nutricional de hipotrófico se asoció con esta infección(AU)

Introduction: Congenital cytomegalovirus infection in neonates weighing less than 1500 grams can be a cause of morbidity, mortality, and disability. Objective: To describe the behavior of congenital cytomegalovirus infection in a neonatal service. Methods: A descriptive and cross-sectional study was conducted with 61 neonates. Cytomegalovirus was detected in the first week of life in serum and urine, by polymerase chain reaction, to determine congenital infection. Perinatal variables were evaluated in all neonates, as well as clinical elements and results of complementary examinations in infected infants. Results: The incidence of congenital infection was 10 percent (6/61). 5 percent of the studies were positive (6/122). No urine samples were positive (0/61) and the virus genome was detected in 10 percent of serum samples (6/61). An association was found between nutritional assessment at birth and cytomegalovirus infection (p < 0.05). A total of 83 percent of infected neonates had some clinical sign, with respiratory distress syndrome being the most common (67 percent). In all neonates with congenital infection, brain ultrasound was normal, and retinopathy of prematurity was detected in 33 percent of patients with fundus retinopathy. Conclusions: The incidence of congenital cytomegalovirus infection is high in this risk group. The clinical signs found and the results of the fundus in neonates with congenital infection were related to prematurity and the nutritional assessment of hypotrophic was associated with this infection(AU)

Glaucoma drainage devices in children: an updated review / Dispositivos de drenagem para glaucoma em crianças: uma revisão atualizada

ABSTRACT Implantation of glaucoma drainage devices is a valuable therapeutic option, particularly in children with glaucoma refractory to primary surgical treatment. Glaucoma drainage devices are typically used when conjunctival scarring hampers filtration surgery or prior angle procedures are not effective in controlling intraocular pressure. Despite known complications, the use of glaucoma drainage devices in children has increased in recent years, even as the primary surgical option. In this review, we evaluate the results of recent studies involving the implantation of glaucoma drainage devices in children, discussing new advances, and comparing the success rates and complications of different devices.

RESUMO O implante de dispositivos de drenagem para glaucoma (DDGs) é uma opção terapêutica valiosa, principalmente em crianças com glaucoma refratário ao tratamento cirúrgico primário. Os dispositivos de drenagem para glaucoma têm sido utilizados principalmente quando a cicatrização conjuntival dificulta a cirurgia fistulizante ou procedimentos angulares prévios não foram eficazes no controle da pressão intraocular. Apesar das complicações conhecidas, o uso de dispositivos de drenagem para glaucoma em crianças tem aumentado nos últimos anos, inclusive como opção cirúrgica primária. Nesta revisão, atualizamos os resultados de estudos recentes envolvendo o implante de dispositivos de drenagem para glaucoma em crianças, discutindo novos avanços e comparando diferentes dispositivos, taxas de sucesso e complicações.

Potencial transmisión congénita de la enfermedad de Chagas en la segunda generación de jóvenes embarazadas que asistieron a su control prenatal en el departamento de Cordillera, Paraguay

Trypanosoma cruzi es el agente causal de la enfermedad de Chagas. En Paraguay se estima que existen 165.000 personas infectadas y actualmente la principal vía de transmisión es la congénita, con una prevalencia del 5% y con alrededor de 400 niños infectados nacidos por año. El departamento de Cordillera es área endémica de la Región Oriental del país, donde se implementó el Programa de Control Prenatal de Chagas en el año 1995. El objetivo de este estudio fue inferir sobre la potencial transmisión congénita de la enfermedad de Chagas en jóvenes embarazadas de segunda generación de Cordillera que asistieron a su control prenatal en el período 2010-2012, 15 años después de la implementación del Programa de Control Prenatal. De 9.588 embarazadas; 482 fueron seropositivas (5%); 2,74% en el grupo de 12 a 19 años, 4,93% de 20 a 30 años, 8,03% de 31 a 40 años y 16,11% de 41 a 48 años. Para estimar el origen de la transmisión congénita de segunda generación se tuvo en cuenta a las 72 seropositivas de 12 a 19 años y según la base de datos de las respectivas madres 61 eran seropositivas. Con esta información se estima que la transmisión a embarazadas de segunda generación de 12 a 19 años fue congénita en un 85% indicando una transmisión congénita muy significativa en la población de estudio. Esta información ayudaría al Programa Nacional de Chagas en el fortalecimiento del control de la transmisión congénita de la enfermedad de Chagas en el país.

Trypanosoma cruzi is the causative agent of Chagas disease. In Paraguay, it is estimated that 165,000 people are infected and currently the main route of transmission is the congenital one, with a prevalence of 5% and about 400 infected children are born per year. The Department of Cordillera is an endemic area of the Eastern Region of the country, where the Chagas Prenatal Control Program was implemented in 1995. The aim of this study was to infer the potential congenital transmission of Chagas disease towards second generation pregnant women from the Department of Cordillera who attended their prenatal control in the period 2010-2012, 15 years after the implementation of the Prenatal Control Program. Of 9,588 pregnant women; 482 were seropositive (5%); 2.74% in the group aged 12 to 19 years, 4.93% aged 20 to 30 years, 8.03% aged 31 to 40 years, and 16.11% aged 41 to 48 years. To estimate the origin of second generation congenital transmission, the 72 seropositive women aged 12 to 19 years were taken into account and according to the database of their respective mothers, 61 mothers of the 72 were seropositive. With this información, it can be estimated that 85% of the transmission to second generation pregnant women aged 12 to 19 years was congenital showing a very significant congenital transmission in the study population. This information could help the National Chagas Program in strengthening the control of congenital transmission of Chagas disease in the country.

Lactante con nódulos en talones / Infant with nodules on heels

El hamartoma fibrolipomatoso precalcáneo congénito (HFPC) es una entidad benigna e infrecuente caracterizada por la aparición, al nacimiento o meses después, de nódulos de tejido adiposo, simétricos y asintomáticos en las plantas de los pies. Cursa con una evolución favorable, con un crecimiento acorde a la edad del niño. El diagnóstico es clínico, aunque la ecografía podría ser de utilidad. Rara vez precisa pruebas complementarias agresivas o tratamiento alguno. Se presenta un caso clínico de un lactante que recibió dicho diagnóstico. (AU)

Precalcaneal congenital fibrolipomatous hamartoma is a benign and uncommon entity characterized by the appearance at birth or months later of nodules of adipose tissue, symmetrical and asymptomatic in the soles of the feet. It follows a favourable evolution, with a growth according to the age of the child. The diagnosis is clinical, although ultrasound may be helpful. Aggressive follow-up tests or treatment are rarely needed. We present a clinical case of an infant who received such a diagnosis. (AU)

Hemangioma infantil. Reporte de un caso de presentacion clinica anular / Infantile hemangioma. Report of a case of annular clinical presentation

Reportamos el caso clínico de un lactante menor con una presentación anular de hemangioma, que nos plantea dudas en su clasificación. Se precisan los diagnósticos diferenciales y la necesidad de la determinación del marcador GLUT 1 en hospitales públicos.

We report the clinical case of a young infant with an annular presentation of hemangioma, which raises doubts regarding its classification. Differential diagnoses and the need to determine the GLUT 1 marker in public hospitals are specified.

Hemangioma infantil. Reporte de un caso de presentacion clinica anular

Reportamos el caso clínico de un lactante menor con una presentación anular de hemangioma, que nos plantea dudas en su clasificación. Se precisan los diagnósticos diferenciales y la necesidad de la determinación del marcador GLUT 1 en hospitales públicos.

We report the clinical case of a young infant with an annular presentation of hemangioma, which raises doubts regarding its classification. Differential diagnoses and the need to determine the GLUT 1 marker in public hospitals are specified.

Congenital pulmonary malformations in children in a pediatric hospital in Peru, 2010-2020.

BACKGROUND: Congenital pulmonary malformations (CPMs) are rare in children. This study aimed to describe the clinical, imaging characteristics, and treatment of patients with this pathology. METHODS: We conducted a descriptive and retrospective study with data from patients with CPMs diagnosed at Instituto Nacional de Salud del Niño-Breña (Lima-Peru), from January 2010 to December 2020. We described CPM clinical and imaging characteristics, type and treatment. RESULTS: The sample was formed of 70 patients. The median age was 29 months (range 15 days-14 years) and the male/female ratio was 1.4. The chest tomography found parenchymal involvement in 50 (71.4%) cases and mixed involvement (parenchymal and vascular) in 18 (25.7%) cases. Congenital malformation of the pulmonary airway was present in 39 (55.7%) cases, followed by bronchogenic cyst in 10 (14.3%), intralobar pulmonary sequestration in 9 (12.9%), and extralobar pulmonary sequestration in 7 (10%). Lobectomy was performed in 61 (87.1%) cases, cystectomy in 5 (7.1%), segmentectomy in 2 (2.9%), and embolization in 2 (2.9%). The most frequent post-operative complication was pneumonia, found in 9 (12.9%) cases. The median hospital stay was 26 days. No patient died during hospitalization. CONCLUSIONS: In our institution, the most frequent CPM was congenital malformation of the pulmonary airway, and lobectomy was the most frequently performed surgical procedure. CPMs represent a diverse group of disorders of lung development with varied imaging patterns and clinical manifestations.

INTRODUCCIÓN: Las malformaciones pulmonares congénitas son poco frecuentes en niños. El objetivo de este estudio fue describir las características clínicas, imagenológicas y tratamiento de los pacientes con esta patología. MÉTODOS: Se llevó a cabo un estudio descriptivo y retrospectivo con datos de los pacientes con malformaciones pulmonares congénitas diagnosticados en el Instituto Nacional de Salud del Niño-Breña (Lima-Perú) entre enero 2010 y diciembre 2020. Se describieron las características clínicas, imagenológicas, el tipo de malformación pulmonar congénita y el tratamiento. RESULTADOS: La muestra fue de 70 pacientes. La mediana de edad fue 29 meses, la relación masculino/femenino fue 1.4. En la tomografía de tórax se encontró compromiso parenquimal en 50 (71.4%) casos, y compromiso mixto (parenquimal y vascular) en 18 (25.7%). La malformación congénita de la vía aérea pulmonar se observó en 39 (55.7%) casos, seguida del quiste broncogénico en 10 (14.3%), secuestro pulmonar intralobar en 9 (12.9%) y secuestro pulmonar extralobar en 7 (10%). La lobectomía fue realizada en 61 (87.1%) casos, la quistectomía en 5 (7.1%), segmentectomía en 2 (2.9%) y embolización en 2 (2.9%). La complicación posquirúrgica más frecuente fue la neumonía en 9 (12.9%) casos. La mediana de estancia hospitalaria fue de 26 días. Ningún paciente falleció durante la hospitalización. CONCLUSIONES: En nuestra institución, la malformación pulmonar congénita más frecuente fue la malformación congénita de la vía aérea pulmonar, y la lobectomía el procedimiento quirúrgico más comúnmente realizado. Las malformaciones pulmonares congénitas representan un grupo diverso de trastornos del desarrollo pulmonar con variados patrones imagenológicos y manifestaciones clínicas.