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Hypoplasia of the internal carotid artery is a rare congenital abnormality that can present with an ischemic stroke or transient ischemic attacks. We present the case of a 17-year-old male who presented with right hemiparesis and dysarthria. The imaging revealed hypoplasia of the left internal carotid artery and narrowing of the left carotid duct. The patient was managed conservatively. This case highlights the importance of considering ICA hypoplasia as a cause of ischemic stroke in patients with a narrowed osseous canal. Early diagnosis and management can help prevent recurrent strokes.
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Purpose: The purpose of this study was to determine the association between lens thickness and cataract in participants aged 0 to 5 years. Design: This was a prospective, multicenter, case-control study. Participants: We enrolled 118 participants (171 eyes) aged 0 to 5 years, mean age 14.6 ± 17.0 months, range 0 to 60 months. Methods: Lens thickness was measured on 342 ultrasound biomicroscopy (UBM) images. Main Outcome Measures: Lens thickness; feasibility of lens thickness measurement from UBM images. Results: The mean lens thickness among noncataracts was 3.60 ± 0.17 mm, compared with 3.16 ± 0.61 mm among cataracts (P < 0.0001). Lens thickness <3.5 mm was significantly associated with increased odds of cataract; adjusted odds ratio = 5.99 (95% confidence interval, 2.41-14.88; P < 0.0003) among participants age 0 to 7 months. Lens thickness was significantly associated with cataract laterality among participants age 0 to 7 months (P < 0.0001). Conclusions: Quantitative UBM can be used to evaluate lens thickness in infants and children with congenital cataracts. The lens in congenital cataract eyes was thinner than that of controls among infants. Abnormal lens thickness was significantly associated with cataract. Future longitudinal studies will examine the association between lens thickness and postcataract surgery outcomes. Financial Disclosures: Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
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Vascular ring anomalies, represented mainly by the double aortic arch (DAA), account for about 1% of congenital cardiovascular anomalies and are characterized by tracheoesophageal compression due to encircling vascular or ligamentous structures. These anomalies arise from the failure of the right fourth aortic arch to regress during embryonic development, leading to symptoms ranging from respiratory distress to dysphagia. Diagnostic imaging includes chest radiography, CT, MRI, and echocardiography, each with specific considerations, especially in pediatric patients. Management, often surgical, focuses on relieving compression symptoms and has a favorable prognosis. This case series emphasizes the manifestations of the double aortic arch, whether it be respiratory distress or dysphagia, and addresses both right and left dominant arches.
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ABSTRACT Objective: To verify the use and identify advantages of molecular methods for congenital infections diagnosis in cerebrospinal fluid of neonates. Data source: The review was registered in the International Prospective Register of Systematic Reviews (PROSPERO), under CRD42021274210. The literature search was performed in databases: PubMed, Virtual Health Library/ Latin American and Caribbean Center on Health Sciences Information (VHL/BIREME), Scopus, Web of Science, Excerpta Medica database (EMBASE), Cochrane, ProQuest, and EBSCOhost. The search was carried out from August to October 2021 and updated in December 2022, respecting the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. The selection sequence was: 1) Duplicate title removal; 2) Examination of titles and abstracts; 3) Full-text retrieval of potentially relevant reports; and 4) Evaluation of the full text according to eligibility criteria by two independent authors. Inclusion criteria considered randomized and non-randomized control trials, longitudinal, cross-sectional, and peer-reviewed studies in humans, published in English, Spanish, Italian, and Portuguese, with newborns up to 28 days old who had congenital neuroinfections by toxoplasmosis, rubella, cytomegalovirus, herpes simplex (TORCH), and others such as Treponema pallidum, Zika, parvovirus B-19, varicella zoster, Epstein-Barr, and SARS-CoV2, diagnosed by polymerase chain reaction (PCR). Two evaluators extracted the following information: author, year of publication, nationality, subjects, study type, methods, results, and conclusion. Data synthesis: The most studied pathogen was herpes simplex. Several articles reported only nonspecific initial symptoms, motivating the collection of cerebrospinal fluid and performing PCR for etiological investigation. Conclusions: Molecular methods are effective to detect pathogen genomes in cerebrospinal fluid, which can impact clinical evolution and neurological prognosis.
RESUMO Objetivo: Verificar a utilização e identificar as vantagens dos métodos moleculares para diagnóstico de infecções congênitas no líquido cefalorraquidiano de neonatos. Fontes de dados: A revisão foi registrada na base PROSPERO (International Prospective Register of Systematic Reviews) sob CRD42021274210. A busca bibliográfica foi realizada nas bases de dados PubMed, Biblioteca Virtual em Saúde/ Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde (BVS/BIREME), Scopus, Web of Science, Excerpta Medica database (EMBASE), Cochrane, ProQuest, e EBSCOhost. A busca foi feita no período de agosto a outubro de 2021 e atualizada em dezembro de 2022, respeitando as orientações do Preferred Reporting Items for Systematic Reviews e Meta-Analyises (PRISMA). A sequência da seleção dos estudos foi: 1) Remoção de duplicatas; 2) Exame de títulos e resumos; 3) Recuperação dos textos completos potencialmente relevantes; e 4) Avaliação do texto completo conforme critérios de elegibilidade por dois autores independentes. O critério de inclusão considerou ensaios clínicos randomizados e não randomizados, estudos longitudinais, transversais, revisados por pares, estudos em humanos, publicados em inglês, espanhol, italiano e português, com recém-nascidos de até 28 dias que sofreram neuroinfecções congênitas pelos agentes toxoplasmose, rubéola, citomegalovírus, herpes simples (TORCH), e outros como Treponema pallidum, Zika, parvovírus B-19, varicela zoster, Epstein-Barr, e SARS-CoV-2, diagnosticadas por reação em cadeia de polimerase (PCR). Dois avaliadores extraíram as seguintes informações: autor, ano de publicação, nacionalidade, sujeitos, tipo de estudo, métodos, resultados e conclusão. Síntese dos dados: O patógeno mais estudado foi Herpes Simples. Muitos artigos relataram somente sintomas iniciais inespecíficos, motivando a coleta de líquido cefalorraquidiano e realização da PCR para investigação etiológica. Conclusões: Os métodos moleculares são eficazes para detectar o genoma do patógeno no líquido cefalorraquidiano, o que pode impactar na evolução clínica e no prognóstico neurológico.
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ABSTRACT Purpose: This study aimed to assess grating visual acuity and functional vision in children with congenital Zika syndrome. Methods: Initial and final grating visual acuity was measured using Teller acuity cards. Cerebral vision impairment standardized tests were used to assess functional vision. Patients were referred to the early visual intervention program for visually disabled children. Neuroimaging was performed. Results: In this study, 10 children were included with an age range of 1-37 months. Eight patients presented with macular atrophic scars. Neuroimaging revealed microcephaly and cerebral abnormalities in all patients. Low vision and cerebral vision impairment characteristics were observed in all children. The final grating visual acuity in this group varied from 3.00 to 0.81 logMAR. Conclusions: The grating visual acuity test revealed low vision in all children with congenital Zika syndrome. Functional vision evaluation revealed cerebral vision impairment characteristics in all patients, who were referred to the early visual intervention program. Visual acuity improved in six children.
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Background: Pediatric cataract is one of the most common preventable cause of childhood blindness worldwide. Early and timely intervention of pediatric cataract is important to maximize the visual outcomes and start prompt visual rehabilitation. Objectives: This study aimed to determine the average time from the day of initial consult at the outpatient clinic to the day of the cataract surgery and compare the effects of delayed surgery on visual outcomes of patients. Methods: This is a retrospective chart review of medical records from January 2015 to June 2022. The dates of the different steps in the process up to the day of intervention were noted and the average interval duration and the total waiting time were determined. Patients operated on within 2 weeks from initial consult was defined as no delay while those operated >2 weeks had delayed surgery. Pre-operative and post-operative best corrected log MAR visual acuity were compared within each group to determine if delay in surgical intervention has a significant effect on the visual outcomes of patients. Results: Median age at initial consult was 4.9 years while median age at surgery was 5.2 years. Ninety-nine (99) patients had developmental cataract and 123 patients had bilateral cataract. Leukocoria was the most common chief complaint (63.45%). Pre-operatively, 94 patients had strabismus, 49 had eye preference, 48 had nystagmus, and 43 had amblyopia in the diagnosis. There was significantly faster admission to cataract surgery during the pandemic compared to pre-pandemic period but there was no difference in the total waiting time. Patients with congenital cataract had the least total waiting time followed by developmental, and rubella cataract. There is no significant difference in visual outcomes between patients operated without delay and with delay. Conclusion: There is delayed age at diagnosis and surgery of pediatric cataract patients in the Philippine General Hospital. Early surgery did not reflect better visual outcomes compared to delayed surgery probably due to delay in consultation of patients.
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Background: The kidney is the organ of the human body with the most common congenital anomalies in either development or vascular supply. Although the presence of a second feeding artery arising from a different level of the aorta is not uncommon, the occurrence of a feeding renal artery arising from the contralateral common iliac artery is an infrequent finding. Case description: We present a case bearing significant abnormalities, including malrotation of the right kidney, the presence of two feeding arteries arising from very uncommon sites, and the presence of two main renal veins with anomalous drainage. Conclusion: Awareness of such defects is essential in treatment planning in cases of endovascular surgery for abdominal aneurysm repair, as well as in cases of renal tumors where partial nephrectomy or embolization is contemplated or in the case of kidney transplantation. HIPPOKRATIA 2024, 28, 1: 35-37.
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PURPOSE: Improved perioperative care has enhanced survival in children with congenital gastrointestinal conditions and abdominal wall defects (AWD). However, epidemiological and surgical outcomes in developing nations are still scarce. Our aim was to assess the burden and mortality of common congenital gastrointestinal anomalies and AWD in Malaysia, and their influencing factors. METHODS: Using the Global PaedSurg study protocol with permission, we performed a prospective cohort study on children presenting for the first time between October 2021 and April 2022 with these conditions: Esophageal atresia (EA), congenital diaphragmatic hernia (CDH), intestinal atresia, gastroschisis, exomphalos, anorectal malformation (ARM) and Hirschsprung's disease. We compared mortality and 30-day outcome data across different geographical regions in Malaysia. RESULTS: There were 228 patients with 242 study conditions (EA n = 28, CDH n = 36, intestinal atresia n = 49, gastroschisis n = 12, exomphalos n = 8, ARM n = 77, Hirschsprung's disease n = 32). Our mortality rate was 8.8%; 60% of these were CDH patients. Factors significantly associated with mortality were CDH diagnosis, central venous access requirement, higher American Society of Anesthesiologists (ASA) score, blood transfusion and ventilation requirement. CONCLUSION: Diagnosis of CDH is the most important predictor for sepsis on arrival and mortality, therefore measures should be taken for early recognition and aggressive management.
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Anomalías del Sistema Digestivo , Humanos , Masculino , Femenino , Recién Nacido , Estudios Prospectivos , Malasia/epidemiología , Anomalías del Sistema Digestivo/epidemiología , Anomalías del Sistema Digestivo/mortalidad , Lactante , Estudios de Cohortes , Costo de EnfermedadRESUMEN
OBJECTIVE: Emerging scoliosis (ES) is a rare phenomenon after hemivertebra (HV) resection and short segmental fusion. Since the introduction of the ES, there have been rare in-depth studies. The aim of the present study was to further analyze the characteristics, risk factors, treatment, and prognosis of ES. METHODS: A retrospective study analyzed patients with congenital scoliosis due to a single HV who underwent posterior correction and short fusion from 2002 to 2022. ES was defined as a Cobb angle ≥20° from its initial value and an apical vertebra located ≥2 levels away from the fusion region. ES patients and non-ES patients were matched at a 1:2 ratio. Both demographics and radiological parameters were compared. Univariate analysis and multivariate logistic analysis were used to identify the risk factors of ES. RESULTS: Among 261 patients, 13 patients (5.0%) experienced ES. There were eight females and five males. The mean age of the ES patients at the time of primary surgery was 6.6 ± 3.7 years old (2.0-13.2 years old), with a mean follow-up of 64.2 ± 47.9 months (12-156 months). The ES could be further divided into three types: balance-related ES, complication-related ES, and separated ES. There were three balance-related ESs, six complication-related ESs, and four separated ESs. At the last follow-up, six patients were under observation, six patients underwent brace treatment, and one patient underwent revision surgery. Multivariate logistic analysis showed that the magnitude of postoperative compensatory curve (CC) was an independent risk factor for ES (OR = 1.172, p = 0.014). CONCLUSIONS: ES is an extraordinary phenomenon after HV resection and short fusion, and it can be divided into three types. The magnitude of postoperative CC was an independent risk factor for ES. According to the severity of ES, observation, brace, or surgery can be chosen.
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OBJECTIVE: To demonstrate the usefulness of ultrasonography in detecting knee ossification centers in infants with permanent congenital hypothyroidism (PCH). METHODS: From 2011 to 2021, all infants with PCH referred for thyroid ultrasound also underwent left knee ultrasound and radiography on the same day. Knee radiographs were compared with knee sonograms. Two pediatric radiologists reviewed the consensus knee radiographs and sonograms to identify femoral and tibial epiphyseal ossification centers (presence/absence). The concordance between ultrasonography and radiography was assessed. Another radiologist conducted a second late review to evaluate interobserver agreement. RESULTS: We identified 125 patients (65 girls, 60 boys) with a mean age of 24 days (5 days-5 months). On scintigraphy, the thyroid was in place in 66.4%, ectopic in 24%, and absent in 9.6% of patients. The femoral center was observed in 108 patients (86.4%) via sonography and 106 patients (84.8%) via radiography. The tibial center was observed in 84 patients (67.2%) via sonography and radiography. Both femoral and tibial centers were present on sonography and radiography in 84 patients (67.2%). A single nucleus was present in 24 patients (19.2%) on sonography and 22 patients (17.6%) on radiography; it corresponded to the femoral center in all patients. The concordance between ultrasonography and radiography was 99% and 100%, respectively, for the detection of the femoral and tibial centers. Interobserver agreement was substantial to almost perfect for both ultrasonography and radiography. CONCLUSION: Ultrasonography is as effective as radiography in detecting knee ossification centers in PCH. It can be performed at the same time as thyroid examination, in place of radiography.
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Progesterone is a natural hormone, mainly produced by the corpus luteum, with the foremost endocrine function on the secretory glands of the endometrium. Since being isolated, both natural and synthetic forms have been produced and are utilized for several purposes, including regulating the menstrual cycle and preventing endometrial hyperplasia. Specifically, the use of progestational agents is essential in the treatment of many common endocrine conditions, including Polycystic Ovary Syndrome, Congenital Adrenal Hyperplasia, Turner Syndrome, and Functional Hypothalamic Amenorrhea. Although these agents are essential for disease management, literature that focuses on the benefits of specific progestins as well as the effects on glucocorticoid receptors (GR), mineralocorticoid receptors (MR), and androgenic receptors (AR) is limited. In this review, we provide a disease specific summary of the available literature and highlight where more information is needed.
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Midgut malrotation with volvulus is a surgical emergency with potentially devastating outcomes which include short gut syndrome necessitating long-term parenteral nutrition, overwhelming sepsis, and death. The clinical presentation is most frequently with bilious vomiting in the first days-weeks of life, which is non-specific and common. Timely imaging investigation is therefore crucial to prevent delays to diagnosis and treatment and avoid unnecessary surgical exploration in infants with non-surgical bilious vomiting. Fluoroscopic upper gastrointestinal contrast series (UGI) has been the first-line imaging modality to investigate midgut malrotation at pediatric surgical centers worldwide. However, there is a growing body of evidence to indicate that ultrasound (US) has greater diagnostic accuracy than UGI in this context. Furthermore, US offers the benefits of accessibility, portability, lack of ionizing radiation, and the ability to identify alternative diagnoses, and is beginning to attract significant attention and consideration in the literature. Over the last 3 years, we have transitioned to an "US-first" pathway for the investigation of midgut malrotation in infants with bilious vomiting. This pictorial essay illustrates our comprehensive approach, describes unique troubleshooting techniques, and highlights the variably published pitfalls we have encountered with the aim of encouraging wider adoption.
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OBJECTIVES: The purpose of this study was to evaluate the value of MGI and multi-parameter in the assessment of different pulmonary circulation blood volumes in congenital heart disease. METHODS: This study included 350 fetuses categorized into two groups: Normal group consisted of 258 fetuses with no discernible abnormalities through echocardiography as control Group A; Abnormal group with abnormal echocardiogram, including Group B of 71 fetuses with decreased pulmonary blood flow or pulmonary atresia and Group C of 21 fetuses with reduced or detached aortic blood flow. RESULTS: The MGI and Z-scores were measured and compared among these groups. Significant variations were noted in the aortic outflow Z-scores (AO-Zs) (p<0.01), pulmonary artery (PA) (p<0.01), PA Z-scores (PA-Zs) (p<0.01), PA/AO (p<0.01), right PA (p<0.01), and MGI (p<0.01) among the three groups (all p<0.05). Among fetuses with decreased pulmonary blood flow or pulmonary atresia, PA, PA-Zs, and MGI in fetuses with reverse DA flow perfusion were lower than those in the DA forward perfusion group. CONCLUSIONS: Fetal echocardiography, incorporating the MGI and multi-parameter, not only allows for the evaluation of pulmonary blood flow and pulmonary vascular development of the fetus but also enables the observation of changes in pulmonary blood flow and MGI development across different gestational weeks.
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Congenital heart diseases are the most common congenital malformations worldwide and represent one of the leading causes of neonatal death, in addition to the significant use of human and financial resources by health systems. The purpose of this document is to support the implementation of neonatal screening for critical congenital heart diseases using pulse oximetry according to the different geographical altitudes of Peru. This technology is widely used worldwide and has high sensitivity, specificity, and cost-effectiveness. At many latitudes, it has led to better survival in this group of patients and in the neonatal population in general since its use in the early detection of sepsis, pneumonia, and other conditions that affect the oxygenation of the newborn. Neonatal screening for critical congenital heart disease is applicable at all levels of healthcare at a national level, and its implementation must be a priority to improve neonatal health.
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Objetive: Congenital heart diseases (CHD) can be found in pregnant women. Although cardiac interventions in the catheterization laboratory are considered safe and effective, it is preferable to wait 3-6 months after delivery to correct simple, uncomplicated CHD; however, this may result in follow-up losses. The objective is to present our experience in correcting CHD during the early puerperium (EP). Materials and methods: All cases of pregnant women with CHD, including atrial septal defect (ASD), patent ductus arteriosus (PDA), and aortic coarctation (CoA) between 2017-2023, who underwent percutaneous defect correction during the EP were collected. Results: Fifteen pregnant women were included, diagnosed with ASD (5), PDA (6), and CoA (4). Five patients (33.3%) were classified as WHO risk class IV; the procedure was successful in 80% of the cases, and only 1 patient presented complications. Conclusions: In our experience, the closure of uncomplicated congenital defects during the EP did not present major complications and could be a treatment strategy to prevent follow-up losses after delivery in pregnant women with CHD.
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Background: Mitral Valve Disease in children presents unique challenges due to the wide range of associated pathologies and the complexities of pediatric cardiac anatomy. Mitral valve repair in this demographic is preferred over replacement due to the drawbacks associated with prosthetic valves in young patients, such as the need for long-term anticoagulation and issues with prosthetic size and growth. Methods: This retrospective study reviewed pediatric patients under 18 years who underwent mitral valve repair between January 2002 and December 2023. Exclusion criteria included patients with atrioventricular septal defects or single-ventricle physiology. Surgical outcomes were assessed using preoperative and postoperative transthoracic echocardiography, with follow-up data analyzed via Kaplan-Meier survival estimates. Results: The study included 47 patients with a median age of 4 years. Surgical techniques varied based on the specific mitral valve pathology. The overall early mortality was 6.3%, and the one and ten-year survival rates were 93.6 ± 3.6% and 91.4 ± 4.1%, respectively. Most patients showed improved or stable postoperative cardiac function during a median follow-up of 105 months. Notably, the rate of freedom from re-operation at ten years was 85.1 ± 6.9%, highlighting the durability of the surgical interventions. Conclusions: Mitral valve repair in children demonstrates favorable long-term outcomes with low mortality and reoperation rates, particularly when performed at an older age to accommodate growth and avoid the complexities of smaller, more delicate cardiac structures. These findings suggest that mitral valve repair should be considered a viable and effective option for managing pediatric MVD, with a personalized approach essential for optimizing outcomes.
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Background: Congenital Heart Disease (CHD) is the most common congenital abnormality. Survival rates are over 90%, however infants with CHD remain at high risk of attention and executive function impairments. These abilities are difficult to assess in toddlers because clinical assessments rely on language abilities which are commonly delayed in CHD. Our aim was to characterise visual attention in toddlers with CHD compared to controls and identify associations with parent-rated effortful control. Methods: Thirty toddlers with CHD (19 male, median (IQR) age at assessment 22.2 (22-23.1) months) and 66 controls from the developing human connectome project (36 male, age at assessment 22 (21.5-23.8) months) using eye-tracking tasks designed to assess multiple components of visual attention. Analyses of co-variance and regressions were used to identify differences between groups and relationships between gaze behaviours and parent-rated effortful control. Results: Toddlers with CHD were less accurate when switching behaviours (set-shifting) [median (IQR) 79%, (28-100)] compared to controls [100% (86-100), pFDR = 0.032], with worse accuracy associated with lower parent-rated effortful control in CHD but not controls (interaction pFDR = 0.028). Reaction times were slower during selective [CHD 1243 ms (986-1786), controls 1065 ms (0851-1397), pFDR<0.001] and exogenous attention tasks [CHD 312 ms (279-358), control 289 (249-331), (pFDR = 0.032) and endogenous attention was less mature (prolonged looks at facial stimuli CHD 670 ms (518-885), control 500 ms (250-625), (pFDR = 0.006). These results were unrelated to differences in cognition or socioeconomic status. In contrast, the allocation of attentional resources was preserved in CHD. Conclusions: We identified a profile of altered attention and early executive functioning development in CHD. Eye-tracking may provide clinically feasible, early objective measures of attention and executive function development in CHD.
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The inferior vena cava (IVC) is a critical structure for venous return to the heart, and congenital anomalies of the IVC, though rare, can have significant clinical implications during procedures like catheter ablation for arrhythmias. In this case, a 26-year-old male presented with left-sided chest pressure after a routine exercise. Electrocardiography (ECG) revealed a delta wave and shortened PR interval, consistent with Wolf-Parkinson-White (WPW) syndrome, which involves an accessory electrical pathway leading to supraventricular tachycardia. Catheter ablation was planned to treat WPW syndrome; however, during the procedure, access to the right atrium via the IVC was obstructed due to an undiagnosed congenital IVC anomaly. Imaging revealed that the IVC was interrupted at the abdominal level, with venous return rerouted through an enlarged azygos vein into the superior vena cava. This anomaly prevented the use of the standard transvenous approach for ablation, and alternative approaches requiring specialized equipment and a highly skilled team available only at a tertiary care center were necessary. The patient was subsequently referred to such a center for further management. The IVC anomaly directly affected the procedural outcome, making pre-procedural imaging important when unexpected difficulties arise during ablation for WPW. This case demonstrates how congenital vascular anomalies may complicate standard electrophysiological procedures, especially in arrhythmia management. Future research should focus on developing alternative ablation techniques, such as the aortic approach, which may offer solutions for patients with vascular anomalies but require specialized facilities. While routine imaging for all WPW patients is not necessary, this case suggests that early imaging should be considered when procedural access is unexpectedly difficult. Establishing protocols and training for these complex scenarios is important for improving outcomes in similar cases.
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Adnexal masses are uncommon in children but are increasingly recognized due to advancements in diagnostic facilities. Such masses in the pediatric population often raise concerns about malignancy. Typically, these masses are small and can resolve spontaneously; however, larger ones can pose a diagnostic dilemma due to their signs and symptoms, requiring clinicians to be particularly vigilant. Simple ovarian cysts are seen in 1 in 2500 live births. They are commonly diagnosed prenatally as intra-abdominal masses by ultrasonography. While there are no established guidelines for management, larger cysts are generally managed surgically (either open or laparoscopic) with the aim of protecting the ovaries and ensuring future fertility. Herein, we present a case of an unusually large congenital ovarian cyst in a newborn that mimicked an abdominal mass, leading to respiratory compromise.