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http://dx.doi.org/10.1136/bcr-2013-202786 | DOI Listing |
Dev Med Child Neurol
January 2025
Department of Paediatric Infectious Diseases, Imperial College Healthcare NHS Trust, London, UK.
Aim: To identify neonatal magnetic resonance imaging (MRI) features that predict the likelihood of children with congenital cytomegalovirus (cCMV) developing epilepsy, together with clinical features and a validated MRI scoring system.
Method: This was a retrospective descriptive cohort study of infants with cCMV referred to a paediatric infectious disease centre between April 2012 and March 2022, and followed up for at least 2 years. MRI was performed before 4 months of age and assessed by two paediatric neuroradiologists.
Radiol Case Rep
March 2025
Department of Radiology, Makassed hospital, Jerusalem, Palestine.
Zinner syndrome (ZS) is a rare congenital urological condition characterized by a triad of ipsilateral seminal vesicle cysts, unilateral renal agenesis, and ejaculatory duct obstruction, first described in 1914. This case report details the presentation and management of a 27-year-old male diagnosed with ZS following a 2-month history of urinary frequency, hesitancy, dysuria, and painful ejaculation. Physical examination revealed a left lower abdominal mass, and imaging confirmed the classic findings of ZS, including unilateral renal agenesis, an enlarged seminal vesicle cyst, and an ectopic ureter.
View Article and Find Full Text PDFPan Afr Med J
January 2025
Department of Hepato-Gastroenterology, University Hospital of Mohammed VI, Marrakech, Morocco.
Pancreas divisum occurs during development when the ventral and dorsal buds of the pancreas do not fuse. It is the most common congenital anomaly of the pancreas. Patients with this condition are usually asymptomatic, but almost 25% of these patients experience recurrent pancreatitis, which may progress to chronic pancreatitis.
View Article and Find Full Text PDFSudan J Paediatr
January 2024
Department of Paediatrics, South West Acute Hospital, Enniskillen, UK.
Pseudohypoaldosteronism (PHA) is a rare disorder that mimics congenital adrenal hyperplasia (CAH). Renal type A1A of the disorder has a known gene mutation (NR3C2) and parents may be asymptomatic despite biochemical abnormalities. Meticulous interpretation of hormonal and biochemical data, and early liaison with endocrinology and renal teams are key in diagnosis.
View Article and Find Full Text PDFUrol Case Rep
January 2025
Department of Urology, China Medical University Hospital, Taiwan.
Zinner syndrome is a congenital anomaly characterized by seminal vesicle cysts, ipsilateral renal agenesis, and ejaculatory duct obstruction possibly associated with infertility. Only 200 cases of Zinner syndrome have been reported since its discovery in 1914. We present the case of a 63-year-old man seeking treatment for a ureteropelvic junction stone causing severe hydronephrosis.
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