Background: Patients presenting with locally advanced, metastatic paraganglioma with life-threatening compressive symptoms of critical anatomic structure pose a significant management challenge.
Methods: We present a case of a 15-year-old patient with enlarging right neck mass causing dysphagia and respiratory compromise from near complete obstruction of the oropharynx.
Results: Evaluation of the patient's family history led to the identification of a mutation in the succinate dehydrogenase subunit B (SDSD) gene (G725A). Laboratory and imaging workup revealed an 8.8 × 6.6 × 4.1 cm metabolically and biochemically active right neck mass, a tumor in the left para-aortic region, and multiple bony lesions consistent with widely metastatic disease. Multidisciplinary management included preoperative clinical optimization, coil embolization, and palliative resection of the neck mass.
Conclusion: Although the currently available treatment options for patients with advanced metastatic paraganglioma render no survival benefit, a multidisciplinary management approach aimed at relief of tumor-related symptoms and catecholamine excess should be undertaken.
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JMIR Form Res
January 2025
Lyv Healthcare, 6 rue Edouard Nignon, Nantes, FR.
Background: After suffering for an average of 7 years before diagnosis, endometriosis patients are usually left with more questions than answers about managing their symptoms in the absence of a cure. To help women with endometriosis after their diagnosis, we developed an online support program combining user research, evidence-based medicine, and clinical expertise. Structured around CBT and the quality-of-life metrics from the EHP score, the program is designed to guide participants over a 3-month and is available in France.
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December 2024
Department of Pediatrics, Division of Neonatology, Blythedale Children's Hospital, Valhalla, USA.
Retroperitoneal teratomas are rare neoplasms in neonates, presenting with nonspecific symptoms and variable clinical features, making diagnosis challenging. Radiological investigations, particularly fetal ultrasound and contrast-enhanced computed tomography, play a critical role in their detection. Differential diagnoses include neuroblastoma, adrenal hemorrhage, and congenital cystic lesions, which share overlapping clinical and imaging features.
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December 2024
Family Medicine, Unidade de Saúde Familiar (USF) Amato Lusitano, Unidade Local de Saúde (ULS) de Amadora/Sintra, Amadora, PRT.
Sarcoidosis is a rare, multisystemic disease of unknown etiology, characterized by noncaseating granulomas in various organs. The disease often presents with nonspecific symptoms that complicate the diagnosis. We describe the case of a 31-year-old woman who presented to her family doctor with weight loss, cervical lymphadenopathy, parotid edema, and cutaneous lesions, initially raising suspicion of a lymphoproliferative disorder.
View Article and Find Full Text PDFIntroduction Mucormycosis is an uncommon fungal infection caused by filamentous fungi of the Mucorales order, namely Rhizopus, Lichthemia, andMucor species. The incidence and prevalence of mucormycosis reached an all-time high during the COVID-19 pandemic due to excessive steroid use and other factors, leading to the coining of the term CAM (COVID Associated Mucormycosis). The diagnosis of mucormycosis is by a combination of histopathology and microbiological techniques, such as KOH mount and culture.
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December 2024
Pharmacy, Punjab University College of Pharmacy, Lahore, PAK.
Berardinelli-Seip congenital lipodystrophy (BSCL), also known as congenital generalized lipodystrophy (CGL), is an exceptionally rare autosomal recessive disorder marked by a significant deficiency of adipose tissue throughout the body. This lack of adipose tissue, normally found beneath the skin and between internal organs, leads to impaired adipocyte formation and fat storage, causing lipids to accumulate in atypical tissues such as muscles and the liver. The extent of adipose tissue loss directly influences the severity of symptoms, which can include a muscular appearance, increased appetite, bone cysts, marrow fat depletion, acromegalic features, severe insulin resistance, skeletal muscle hypertrophy, hypertrophic cardiomyopathy, hepatic steatosis, hepatomegaly, cirrhosis, and intellectual disability.
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