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http://dx.doi.org/10.1016/j.jdcr.2024.01.034 | DOI Listing |
Medicine (Baltimore)
September 2025
Diagnosis and Treatment Center for Children, The Affiliated Hospital to Changchun University of Chinese Medicine, Changchun, Jilin Province, China.
Rationale: Phelan-McDermid syndrome, also known as chromosome 22q13.3 deletion syndrome, is a genetic disorder primarily caused by a chromosome 22q13.3 deletion or mutation.
View Article and Find Full Text PDFPediatr Cardiol
September 2025
Pediatric Cardiology Unit, University Hospital of Geneva, Geneva, Switzerland.
Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital anomaly. Its clinical course is typically severe in infancy, leading to left ventricular ischemia, cardiogenic shock, and high mortality without surgical intervention.We describe a rare case of a 3-year-old girl diagnosed with ALCAPA, showing extensive right-to-left collaterals, preserved left ventricular function, and minimal myocardial injury.
View Article and Find Full Text PDFCytopathology
September 2025
All Institute of Medical Sciences, Raebareli, India.
Paediatric abdominal masses encompass a wide range of differential diagnoses including various inflammatory, benign and malignant aetiologies. A thorough clinical examination and imaging are the preliminary investigations of choice to ascertain the nature and extent of the abdominal mass. Fine needle aspiration biopsy cytology (FNABC) is a rapid, reliable and cost-effective tool for the definitive diagnosis.
View Article and Find Full Text PDFAsia Pac J Clin Oncol
September 2025
Department of Pathology, Faculty of Medicine, Ege University, Izmir, Türkiye.
Papillary tumors of the pineal region (PTPR) are rare central nervous system neoplasms, with a limited number of pediatric cases reported in the literature. Their optimal management remains unclear due to their unpredictable biological behavior and high recurrence rates. This study presents the clinical course, treatment, and long-term follow-up of a 3-year-old child diagnosed with PTPR.
View Article and Find Full Text PDFChildren (Basel)
July 2025
Medical Imaging Department, Perth Children's Hospital, Nedlands, Perth 6009, Australia.
Acute necrotising encephalopathy (ANE) is a rare and severe type of encephalopathy with bilateral symmetrical brain lesions, often following a viral prodrome. ANE type 1 (ANE1) is a disease subtype with a predisposing mutation in the gene encoding RAN binding protein 2 (). We report a case of a 3-year-old girl with clinical symptoms of ANE and brain MRI findings suggesting ANE1, which was subsequently confirmed by genetic analysis.
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