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Rare of Gaucher's Disease Complication of Splenic Multiple Gaucheroma.
Endocr Metab Immune Disord Drug Targets
January 2025
Department of Endocrinology and Metabolic Diseases, Erciyes University Faculty of Medicine, Kayseri, Turkey.
Background: Gaucheromas, pseudotumors composed of Gaucher cells, are rare complications of Gaucher's Disease (GD). They are usually seen in patients receiving enzyme replacement. Surgery is generally not recommended for these benign masses in treatment management.
View Article and Find Full Text PDFCavernous Sinus Syndrome in a Traumatic Dissecting Aneurysm of the Internal Carotid Artery.
Cureus
December 2024
Department of Ophthalmology, Hospital University Kebangsaan Malaysia, Kuala Lumpur, MYS.
We report a rare case of a missed intracavernous internal carotid artery dissecting aneurysm occurring as a complication of the base of skull fracture with severe brain injury causing acute cavernous sinus syndrome with permanent vision loss. A 31-year-old Myanmar lady had an alleged motor vehicle accident and suffered severe traumatic brain injury with multiple intracranial bleeds, multiple facial bone and base of skull fractures, and limb fractures. At one week post-trauma, she had severe right eye proptosis with vision loss, ophthalmoplegia, chemosis, and high intraocular pressure.
View Article and Find Full Text PDFA Typical Bezold Abscess With an Atypical Aetiology.
Cureus
December 2024
Department of Otolaryngology, Head and Neck Surgery, General Hospital of Athens "Georgios Gennimatas", Athens, GRC.
Objective: This study aims to present a case of temporal bone (TBP) paraganglioma with an insidious clinical presentation, deviating significantly from the typical hearing loss and pulsatile tinnitus pattern.
Methods: A 70-year-old lady presented to the emergency department with a five-day history of right progressive later cervical swelling extending to the mastoid region and chronic worsening purulent otorrhea. The clinical and radiological findings confirmed the presence of a chronic middle ear process complicated by a Bezold abscess.
Siblings With Berardinelli-Seip Congenital Lipodystrophy: Clinical Insights and Challenges.
Cureus
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.
View Article and Find Full Text PDFPrimary ovarian peripheral primitive neuroectodermal tumor presented with breast metastasis; Case report.
Rare Tumors
January 2025
Internal Medicine Department, An Najah National University Hospital, Nablus, Palestine.
Ewing sarcoma family tumors (ESFT) pose diagnostic challenges, which largely depend on the primary site of involvement and tumor stage. Despite advancements in treatment, metastatic ESFTs remain associated with poor outcomes. This case describes a 21-year-old woman who, in July 2022, presented with a left breast mass identified through ultrasound and CT scan, along with abdominal distention.
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