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Successful thoracoscopic-assisted resection of a functional paraganglioma in the mediastinum with extracorporeal circulation: a case report.
J Cardiothorac Surg
January 2025
Department of Thoracic Surgery, The Second Xiangya Hospital of Central South University, Changsha, Hunan, P. R. China.
Background: Paragangliomas are rare neoplasms arising from extra-adrenal chromaffin cells, with mediastinal paragangliomas representing an exceptionally rare subset. This report details the surgical management of a complex mediastinal paraganglioma case, presenting with refractory hypertension and invasion of critical surrounding structures. A comprehensive review of the current literature is included to underscore existing cases, enhance clinical awareness, and share our insights and experience in the diagnosis and treatment of this challenging condition.
View Article and Find Full Text PDFClinical presentation and management challenges of sphingosine-1-phosphate lyase insufficiency syndrome associated with an SGPL1 variant: a case report.
BMC Pediatr
January 2025
Geriatric Mental Health Research Center, Department of Psychiatry, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
Background: This case report describes a unique presentation of sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS) caused by a rare SGPL1 variant, highlighting the diagnostic and management challenges associated with this condition.
Case Presentation: A 2-year-old Iranian female presented with steroid-resistant nephrotic syndrome (NS), primary adrenal insufficiency (AI), growth delay, seizures, and hyperpigmentation. Laboratory evaluation revealed hypoalbuminemia, significant proteinuria, hyperkalemia, and elevated adrenocorticotropic hormone (ACTH) levels.
Precocious puberty: the unlikely herald of Familial adenomatous polyposis in a young girl.
BMJ Case Rep
January 2025
Endocrinology, Government Medical College Thiruvananthapuram, Thiruvananthapuram, Kerala, India.
We describe the case of a girl in her middle childhood who presented with signs of heterosexual precocious puberty in the form of axillary and pubic hair growth, acne and clitoromegaly. Investigations showed elevated androgens and autonomous cortisol excess, suggesting an adrenal source. CT imaging confirmed a left adrenal mass and multiple colonic polyps.
View Article and Find Full Text PDFAnti-PD1-/PDL1-induced chronic intestinal pseudo-obstruction: three cases treated with vedolizumab after corticosteroid failure with mixed results.
Cancer Immunol Immunother
January 2025
Department of Medical Oncology, Institut de Cancérologie de L'Ouest, 44805, Saint Herblain, France.
Immune checkpoint inhibitors (ICI), i.e., anti-PD1/PDL1 and anti-CTLA-4, have reshaped the prognosis of many cancers.
View Article and Find Full Text PDFIntroduction: Adrenal myelolipomas are uncommon benign adrenal tumors, which mostly occur unilaterally. We describe a rare case of giant bilateral adrenal myelolipoma mistaken for retroperitoneal liposarcoma.
Case Presentation: A 49-year-old man developed fever, left flank pain, and a large mass in his left abdomen.
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