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Pontocerebellar hypoplasia type 9 (PCH9) is a rare, autosomal, recessive, neurodevelopmental disorder caused by a mutation in the AMPD2 gene. Despite its rarity, it presents distinctive clinical and neuroradiological features. Diagnosing it is challenging yet crucial for appropriate management. We describe a 21-month-old boy with clinical and neuroradiological manifestations of the diagnosis, including characteristic signs such as an eight-configured midbrain and hypoplasia of the brainstem and cerebellar structures. Genetic evaluation confirmed homozygous missense mutations in the AMPD2 gene. This case highlights the pathognomonic neuroradiological features of pontocerebellar hypoplasia type 9 that point toward diagnosis.
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Gastroepiploic artery aneurysms and pseudoaneurysms pose diagnostic challenges due to their rarity and overlapping radiological features. This case report presents an 82-year-old woman with sudden-onset severe abdominal pain with computed tomography revealing hemoperitoneum and saccular dilations adjacent to the stomach's greater curvature, suggestive of vascular pathology. Selective abdominal arteriography confirmed three saccular dilatations in the gastroepiploic artery, which were managed successfully with coil embolization. The discussion emphasizes the importance of accurate diagnosis, distinguishing between aneurysms and pseudoaneurysms, and prompt intervention to mitigate the risk of hemorrhagic complications of either of them. The case underscores the significance of endovascular management in such rare and critical scenarios.
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Brown adipose tissue represents about 1% of the adult body mass and decreases with age. Under variable circumstances, this amount changes, for example, with age or environmental conditions. Pathological states with hypersecretion of catecholamines can induce hypertrophy and hyperplasia in mature brown adipocytes. Consequently, this response can have imaging representation as pseudonodules, a pitfall in imaging interpretation, and may be confused with neoplastic involvement. A case of pheochromocytoma with brown fat stimulation and catecholamine cardiomyopathy is presented.
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Anastomosing hemangioma is a rare and benign subtype of capillary hemangioma, a soft tissue tumor. It tends to be asymptomatic, causes abdominal pain and hematuria, and is more common in the genitourinary tract. It can be confused with paragangliomas or ectopic pheochromocytomas. Pathology shares characteristics with angiosarcoma, particularly in well-differentiated areas. Diagnosis without a surgical specimen is difficult and is based on clinical characteristics, laboratories, and imaging behavior similar to hemangiomas in other locations. When in doubt, a diagnosis can be supported by a percutaneous biopsy. The prognosis is good, without relapses or metastases. Early identification with follow-up can avoid surgical interventions.
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Cocaine abuse is a public health concern with well-documented cardiovascular complications. However, acute limb ischemia remains a rare and underreported consequence. We present a case of a 36-year-old man with acute right lower limb ischemia following heavy cocaine use, successfully managed with systemic heparin and intra-arterial nitroglycerin. The case highlights considering cocaine as a potential cause of acute limb ischemia and the efficacy of endovascular therapy. Further case reports with this diagnosis and their management are crucial for establishing the best strategies and improving outcomes in these scenarios.
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The transjugular intrahepatic portosystemic shunt is a rising interventional procedure with multiple indications and high technical success but with risks of biliary injuries, an underreported scenario. We present an 11-year-old patient with biliary injury with a leak, biloma formation, and biliary obstruction caused by the percutaneous procedure. Interventional radiology drainages addressed these complications by resolving the leak and biloma. These biliary complications in percutaneous procedures and their management are rarely reported in the medical literature, making their management not standard. We highlight drainage management and the importance of sharing it to add experience to this clinical scenario and encourage sharing cases with similar diagnoses.
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OBJECTIVE: This study aimed to determine the diagnostic performance of contrasted magnetic resonance cholangiography for detecting bile duct lesions following cholecystectomy. MATERIALS AND METHODS: A retrospective case series study was conducted that included patients over 18 years of age with suspected bile duct injury after cholecystectomy, who underwent contrasted magnetic resonance cholangiography, and who also had endoscopic retrograde cholangiopancreatography, surgery, or subsequent clinical follow-up. The images were interpreted by two radiologists who assigned the type of lesion according to the Strasberg classification. Qualitative variables were represented by frequencies and proportions, while quantitative variables were described using measures of central tendency and dispersion. Sensitivity, specificity, and predictive values were assessed, along with interobserver variability, using the kappa index. RESULTS: We included 20 patients with a median age of 51.5 years (interquartile range: 35), and 14 (70%) were women. In all 20 patients, lesions were identified on magnetic resonance cholangiography, of which 19 were confirmed with the gold standard for a positive predictive value of 100% (hepatobiliary-specific contrast agents) and 92% (extracellular contrast). The most frequent lesions were Strasberg E2 and E4 in five patients each. The kappa index was 1 in determining the presence or absence of bile duct injury and 0.9 in the Strasberg classification. CONCLUSION: Contrasted magnetic resonance cholangiography is a method with high positive predictive value and almost perfect interobserver agreement for diagnosing bile duct lesions after cholecystectomy.
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This article presents a case of a multimorbid 63-year-old woman with chronic kidney disease and heparin-induced thrombocytopenia (HIT). Following the insertion of a central venous catheter, she developed phlegmasia cerulea dolens (PCD) in her left arm, a rare and severe complication of deep vein thrombosis (DVT). Given the severity of the case, adapting to anticoagulant contraindications or unavailability, management with catheter-directed thrombolysis and mechanical thrombectomy was made. It is concluded that catheter-directed thrombolysis and mechanical thrombectomy are valuable therapeutic alternatives in critical situations where treatment options are limited.
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Acute idiopathic scrotal edema is a clinical entity predominant in children under 10 years whose true incidence is unknown in our setting. Diagnosis is challenging and avoids unnecessary surgeries. We present the case of an idiopathic acute scrotal edema with ultrasound findings highly suggestive of the diagnosis, which was managed conservatively with complete signs and symptoms resolution after discharge. We aim to review the ultrasound characteristics and differential diagnosis of this disorder.
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Introducción. El manejo de la herida cardiaca penetrante es un reto dado que requiere un rápido manejo quirúrgico para evitar que su desenlace sea fatal. Múltiples factores pronósticos han sido descritos, sin embargo, no ha sido documentada la relación entre el tiempo de llegada a quirófano y el uso de pledgets con la mortalidad. Métodos. Se realizó un estudio observacional retrospectivo de corte transversal, desde el año 2011 hasta el año 2018, en un hospital universitario de la ciudad de Medellín. Se evaluaron los registros de los pacientes con herida cardiaca penetrante confirmada y se realizó análisis univariado, bivariado y multivariado, así como curvas de supervivencia. Resultados. Los pacientes inestables o con taponamiento cardiaco que llegan al quirófano después del minuto 4 de haber ingresado a urgencias tienen cuatro veces más posibilidades de morir que los que llegan a quirófano antes (RR 4,1 IC95% 1,4312,07). El uso de pledgets en el reparo de la herida cardiaca, corresponde a un factor protector para los pacientes, con un OR ajustado de 2,5 (IC95% 1,124-5,641). El tipo de traumatismo, la arritmia intraoperatoria y el índice de choque al ingreso también fueron factores pronósticos. Discusión. Se documenta el efecto del tiempo de llegada a quirófano sobre la mortalidad, lo cual permitirá en un futuro generar cambios en el manejo de estos pacientes en función de estos tiempos. La evidencia encontrada sugiere mejores desenlaces con el uso rutinario de pledgets
Introduction. The management of penetrating cardiac injury is challenging since it requires rapid surgical ma-nagement to avoid a fatal outcome. Multiple prognostic factors have been described, however, the relationship between the time of arrival to the operating room and the use of pledgets with mortality has not been documented.Methods. A cross-sectional retrospective observational study was conducted from 2011 to 2018 in a university hospital in the city of Medellín. Records of patients with confirmed penetrating cardiac injury were evaluated, and univariate, bivariate, and multivariate analyzes were performed, as well as survival curves.Results. Unstable patients or patients with cardiac tamponade who arrive to the operating room after 4 minutes after being admitted to the emergency room are four times more likely to die than those who arrive to the operating room earlier (RR 4.1 95% CI 1.4312.07). The use of pledgets in the repair of the cardiac wound corresponds to a protective factor for patients, with an adjusted OR of 2.5 (95% CI 1.124-5.641). The type of trauma, intraoperative arrhythmia and the shock index on admission were also prognostic factors. Discussion. The effect of the time of arrival to the operating room on mortality is documented, which will allow in the future to generate changes in the management of these patients based on these times. The evidence found suggests better outcomes with the routine use of pledgets