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Liver Transplant Outcome in Chanarin-Dorfman Syndrome: A Rare Lipid Storage Disease.
Exp Clin Transplant
December 2024
>From the Department of Anesthesia and Intensive Care, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Chanarin-Dorfman syndrome is a multisystem inherited metabolic disorder characterized by congenital ichthyosis and lipid droplet accumulation in various organs, including the liver, muscles, and skin. The accumulation of lipids in the liver can lead to cirrhosis, liver failure, and even hepatocellular carcinoma. Here, we present a 17-year-old girl who underwent a deceased donor liver transplant to treat uncompensated cirrhosis due to Chanarin-Dorfman syndrome.
View Article and Find Full Text PDFTreatment Considerations for Pyoderma Gangrenosum After Reduction Mammoplasty in an Unsuspecting Patient Demographic.
Plast Reconstr Surg Glob Open
January 2025
NH Skin Cancer Surgery, LLC, Derry, NH.
Pyoderma gangrenosum (PG) is a rare, often idiopathic, noninfectious inflammatory neutrophilic dermatitis that causes painful ulcerative cutaneous papillomatous lesions. PG often mimics surgical infection, wound dehiscence, and postoperative cellulitis, leading to high rates of misdiagnosis and mistreatment. Here, a healthy 17-year-old adolescent girl with congenital breast asymmetry, macromastia, and a history of only mild intermittent autoimmune conditions developed an open wound along her inferior left breast incision 2 weeks after reduction mammoplasty.
View Article and Find Full Text PDFMetastatic Alveolar Soft Part Sarcoma Presenting as an Adrenal Incidentaloma: A Case Report with Review of Literature.
Int J Surg Pathol
January 2025
Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.
Metastasis of alveolar soft part sarcoma (ASPS) to the adrenal gland is infrequent, with only eight patients reported in the literature. Here we present an ASPS in an adolescent girl presented as a hypervascular adrenal incidentaloma along with a review of the available literature. This study aims to serve as a reference to aid in the pre-operative radiological and histopathological diagnosis of this rare entity.
View Article and Find Full Text PDFBilateral Ovarian Agenesis and Bone Modeling Disease in Pre-puberty Girl With Primary Amenorrhea.
Cureus
December 2024
Department of Obstetrics and Gynecology, Royal Medical Services, Amman, JOR.
Ovarian agenesis (OA) is a rare congenital condition characterized by the absence of one or both ovaries, often associated with chromosomal abnormalities, hormonal imbalances, and structural deformities. The condition is frequently diagnosed in females presenting with primary amenorrhea and delayed sexual development. This case report highlights a unique presentation of bilateral ovarian agenesis in a patient with chromosome X translocation, bone modeling disease, and primary amenorrhea.
View Article and Find Full Text PDFHydronephrosis-Induced Polycythemia with Low Erythropoietin Level: A Case Report and Literature Review.
Children (Basel)
December 2024
Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan 704302, Taiwan.
Introduction: Polycythemia is a rare condition that can be either primary or secondary. We report a case of an adolescent with progressive hydronephrosis-induced polycythemia and low erythropoietin levels, along with a thorough literature review.
Report Of A Case: A 17-year-old girl with epilepsy had progressively elevated hemoglobin levels and low erythropoietin levels.
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