RESUMEN
Hereditary angioedema (HAE) is a rare genetic disorder characterized by recurrent episodes of localized edema caused by a deficiency or dysfunction of C1 inhibitor (C1-INH). This case report presents the clinical features, diagnostic evaluation, and management of a 23-year-old man with HAE. We discuss the challenges of diagnosing and treating this condition, emphasizing the importance of early recognition and appropriate therapeutic interventions.
RESUMEN
Esophageal neuroendocrine carcinomas (E-NECs) are rare malignant tumors with unknown etiology and pathogenesis. The aggressive nature of E-NECs coupled with a tendency to metastasize and no available treatment guidelines lead to poor prognosis. Here, we report a case of a 65-year-old, previously healthy female who presented with difficulty in swallowing solids, burning sensation over the epigastric region, weight loss (>10%), and altered bowel habits for the last three months. Contrast-enhanced CT (CECT) thorax revealed asymmetric mid-esophageal wall thickening with lymphadenopathy and metastasis in both hepatic lobes. Esophageal endoscopy revealed a large circumferential ulcero-proliferative mass and umbilicated lesions. A histopathological examination revealed small cells with scant cytoplasm and pleomorphic, hyperchromatic nuclei with prominent nuclear molding, and extensive necrosis. Immunohistochemistry revealed positivity for synaptophysin, chromogranin A, and CD56. Ki-67 index was 53%. These findings suggested poorly differentiated, small cell type, high-grade E-NEC. Chemotherapy with cisplatin (30mg/m2) + irinotecan (60mg/m2) was initiated. However, following two chemotherapy cycles, the patient succumbed.
RESUMEN
Periampullary cancers, which include pancreatic adenocarcinoma, ampullary cancer, distal cholangiocarcinoma, and duodenal cancer, present diagnostic and management challenges due to their aggressive nature and nonspecific symptoms. We describe a case of a female patient, age 20, who had obstructive jaundice brought on by a periampullary tumor. Despite difficulties in diagnosis and treatment, including failed endoscopic retrograde cholangiopancreatography (ERCP), the patient underwent a successful pancreaticoduodenectomy (Whipple's resection), and subsequent immunohistochemistry revealed adenocarcinoma with a mixed immunophenotype expressing duodenal and pancreatic markers. This example emphasizes the significance of taking young patients' periampullary tumors into account, the difficulties in diagnosing them, and the possibility of effective surgical surgery throughout this age range.
RESUMEN
Parotid gland swelling, or parotitis, typically associated with infectious causes, can uncommonly result from non-infectious factors such as mechanical trauma following endoscopic procedures. We present a case of a 46-year-old female with liver cirrhosis who developed right parotid swelling shortly after undergoing endoscopy for evaluation of gastrointestinal symptoms. The patient's clinical course, imaging findings, and successful resolution with conservative measures are detailed. The etiology of post-endoscopy parotid swelling is multifactorial, involving potential mechanisms such as mechanical trauma, salivary gland dysfunction, infection, ductal obstruction, or allergic reactions to medications. Diagnosing this rare complication requires a comprehensive clinical evaluation, including a detailed history, symptom assessment, and imaging studies such as ultrasound. Management involves a combination of symptomatic relief, identification, and treatment of the underlying cause, emphasizing the importance of early recognition to prevent complications. In our case, warm compression provided pain relief, and the swelling subsided without the need for medical or surgical intervention. Regular follow-up evaluations and imaging studies are crucial to assess treatment response and ensure the resolution of the swelling. This case contributes to the limited literature on post-endoscopy parotid swelling, emphasizing the significance of recognizing and managing this rare complication promptly. Healthcare professionals should be vigilant, and further research is encouraged to better understand its pathophysiology and optimize management strategies in order to improve patient outcomes.