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Unravelling the case of suspected ectopic ureter in a young adult patient.
Radiol Case Rep
March 2025
Department of Radiology, Hasan Sadikin Academic Medical Center-Faculty of Medicine, University of Padjadjaran, Jatinangor, Indonesia.
An ectopic ureter (EU) opens outside the bladder's trigone, a rare condition with an incidence of 0.05%-0.025%.
View Article and Find Full Text PDFCase Report: Craniofacial deafness hand syndrome with unusual cardiovascular symptoms and lack of holistic care.
Front Genet
January 2025
Human Genetics Department, School of Medicine, Universidad San Francisco de Quito, Quito, Ecuador.
Background: Delays in diagnosing rare genetic disorders often arise due to limited awareness and systemic challenges in primary care. This case highlights the importance of a holistic approach to patient care, encompassing timely detection and comprehensive evaluation of clinical features.
Methods: We report the case of a 21-year-old Ecuadorian male with facial and hand dysmorphias, cardiomegaly, pulmonary hypertension, and patent ductus arteriosus (PDA).
Mitral valve infective endocarditis as a manifestation of disseminated Cryptococcus neoformans infection: a case report.
Arch Peru Cardiol Cir Cardiovasc
December 2024
Departamento de Cardiología Clínica. Instituto Nacional de Cardiología Ignacio Chávez, Juan Badiano 1, Sección XVI, Tlalpan, Ciudad De México, Mexico. Departamento de Cardiología Clínica Instituto Nacional de Cardiología Ignacio Chávez Ciudad De México Mexico.
Infective endocarditis is a disease that affects mainly the endocardial surface of the heart and cardiac valves (native or prosthetic). The main risk factors for developing infective endocarditis are male sex, older age, intracardiac shunts, prosthetic valves, rheumatic, and congenital heart disease, intracardiac devices, intravenous drugs use, immunosuppression, and hemodialysis. Streptococci and Staphylococci spp.
View Article and Find Full Text PDFNovel Syndrome With Congenital Thumb Aplasia, Epilepsy, Cognitive Impairment, and Myopathy: A Case Report.
Cureus
December 2024
Neurology, Neurology and Neurophysiology Center, Vienna, AUT.
The combination of thumb aplasia, epilepsy, cognitive impairment, skeletal deformities, and myopathy has not been previously reported. The patient is a 22-year-old man with congenital bilateral thumb aplasia, developmental delay, and cognitive impairment who suffered a first tonic-clonic seizure at the age of 16 and was treated with valproic acid (VPA). At the age of 22, lamotrigine was added due to seizure recurrences and absences.
View Article and Find Full Text PDFArnold-Chiari Malformation Type I Presenting With Bilateral Scapular Winging.
Cureus
December 2024
Department of Neurology, Jose R. Reyes Memorial Medical Center, Manila, PHL.
Bilateral scapular winging is a rare and atypical manifestation of Arnold-Chiari malformation type 1 (ACM1). We report a case of ACM with extensive syrinx formation, presenting with progressive bilateral proximal upper extremity weakness, bilateral scapular winging, and segmental hypesthesia and reduced thermesthesia over the bilateral C2-C8 dermatomal levels. The patient was successfully treated with surgical decompression and syringosubarachnoid shunting.
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