We report a case of a right-sided cystic adrenal mass, detected after the 21st week of gestation, associated with fetal macrosomia. The diagnosis of Beckwith-Wiedemann syndrome was evoked. Prenatal sonography and magnetic resonance imaging did not allow establishing the origin of the suprarenal mass. The differential diagnosis of cystic neuroblastoma, pseudocystic adrenal haemorrhage, and adrenocortical macrocysts was discussed. A laparotomy was performed 2 weeks after birth due to the increasing size of the tumour and due to its possible malignant origin. Histological findings were haemorrhagic lesions without evidence of malignancy and adrenal cortical cytomegaly. The diagnosis of an adrenocortical macrocyst component of Beckwith-Wiedemann syndrome was established.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1159/000080155 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Congenital hyperinsulinism in the Ukraine: a 10-year national study.
Front Endocrinol (Lausanne)
January 2025
Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, United Kingdom.
Introduction: Congenital Hyperinsulinism (CHI) has not been previously studied in Ukraine. We therefore aimed to elucidate the genetics, clinical phenotype, histological subtype, treatment and long-term outcomes of Ukrainian patients with CHI.
Methods: Forty-one patients with CHI were recruited to the Ukrainian national registry between the years 2014-2023.
Infant With Beckwith-Wiedemann Requiring Transplant for Hepatic Mesenchymal Hamartoma.
Pediatr Transplant
February 2025
Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, USA.
Background: Liver transplantation for unresectable, benign hepatic lesions is rare. Hepatic mesenchymal hamartomas (HMH) are benign, cystic tumors that arise mostly in pediatric populations and can cause compressive symptoms. HMH is rarely associated with placental mesenchymal dysplasia (PMD) and Beckwith-Wiedemann syndrome (BWS).
View Article and Find Full Text PDFImaging Findings and Management Strategies for Liver Masses in Children with Predisposition Disorders: A Review by the Pediatric LI-RADS Group.
Radiographics
January 2025
From the Department of Radiology, Mayo Clinic, 200 1st Ave SE, Rochester, MN 55905 (A.B.K.); Department of Radiology, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa (M.R.A.); Department of Radiology and Imaging Sciences, Emory University and Children's Healthcare of Atlanta, Atlanta, Ga (G.K., A.A.); Department of Radiology, Cincinnati Children's Hospital, Department of Radiology, University of Cincinnati College of Medicine, Cincinnati, Ohio (C.E.M., A.J.T.); Department of Radiology, Keck School of Medicine and Children's Hospital Los Angeles, Los Angeles, Calif (H.N.N.); Department of Radiology, Nationwide Children's Hospital, Columbus, Ohio (M.A.R.); Department of Medical Imaging, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Ill (E.R.); Department of Radiology, UT Southwestern Medical Center, Dallas, Tex (G.R.S.); Department of Radiology, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pa (J.H.S.); Department of Radiology, Stanford University School of Medicine, Stanford, Calif (A.B.S.); and Department of Radiology, Children's Hospital Colorado, Aurora, Colo (E.R.T.).
Liver masses in children with underlying systemic disease or a predisposing syndrome can be benign or malignant, ranging from focal fat to hepatocellular carcinoma (HCC). Knowledge of the underlying condition, the pathophysiologic effect on the liver, and the development of liver disease and specific liver lesions allows radiologists to guide imaging with regard to modality and frequency and give recommendations for biopsy when appropriate. In some predisposition disorders, such as Beckwith Wiedemann spectrum, familial adenomatous polyposis syndrome, and tuberous sclerosis complex, established guidelines for imaging screening exist.
View Article and Find Full Text PDFDiagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study.
Clin Genet
December 2024
Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.
To assess the suitability of genome sequencing (GS) as the second step in the diagnostics of patients with the features of 11p15.5-associated imprinting disorders (ImpDis: Silver-Russell syndrome [SRS], Beckwith-Wiedemann syndrome [BWS]), we performed short-read GS in patients negatively tested for imprinting disturbances. Obtaining a genetic diagnosis for patients with the features of these syndromes is challenging due to the clinical and molecular heterogeneity and overlap, and many patients remain undiagnosed after the currently suggested stepwise diagnostic workup.
View Article and Find Full Text PDFNon-malignant features of cancer predisposition syndromes manifesting in childhood and adolescence: a guide for the general pediatrician.
World J Pediatr
December 2024
Pediatrics and Adolescent Medicine, Faculty of Medicine, University of Augsburg, 86156, Augsburg, Germany.
Purpose: Cancer predisposition syndromes are genetic disorders that significantly raise the risk of developing malignancies. Although the malignant manifestations of cancer predisposition syndromes are well-studied, recognizing their non-malignant features is crucial for early diagnosis, especially in children and adolescents.
Methods: A comprehensive literature search was conducted using the PubMed database, focusing on non-malignant manifestations of cancer predisposition syndromes in children and adolescents.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!