Patients with Beckwith-Wiedemann syndrome (BWS) often suffer from pheochromocytoma and hypoglycaemia and are vulnerable to disorders associated with the hypothalamic-pituitary-adrenal axis (HPA), such as major depressive disorder, generalised anxiety disorder, borderline personality disorder, etc. Features of pheochromocytoma even overlap with features of anxiety disorders, panic disorders, etc. These patients undergo multiple major surgeries under general anaesthesia at a very young age due to recurrent tumours that can affect their behavioural and emotional development. Depriving them of much-needed medical and emotional support negatively impacts their physical and psychological well-being. In this case report, we present the case of a 23-year-old woman with Beckwith-Wiedemann syndrome (BWS) who underwent major surgeries such as partial pancreatectomy, adrenalectomy, osteotomy, and paraganglioma resection at an early age. She was neglected by her parents and spent her childhood in an abusive environment. All these factors could have increased her vulnerability to mental health problems. She was diagnosed with borderline personality disorder, major depressive disorder, unspecified trauma, stressor-related disorders, cannabis use disorder, and cannabis-induced psychotic symptoms. This report emphasises the role of medical comorbidity in a patient presenting with borderline personality disorder.
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http://dx.doi.org/10.7759/cureus.40377 | DOI Listing |
JCEM Case Rep
January 2025
Department of Endocrinology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.
A male neonate exhibited hallmark features of Beckwith-Wiedemann syndrome (BWS) including large for gestational age, macroglossia, multiple ear pits, and umbilical hernia. He had neonatal hypoglycemia, requiring a glucose infusion rate of 9.7 mg/kg/min.
View Article and Find Full Text PDFJ Craniofac Surg
January 2025
Division of Plastic Surgery, Department of Surgery, Dalhousie University.
Introduction: Macroglossia is a frequent clinical feature of Beckwith-Wiedemann syndrome (BWS), a congenital overgrowth disorder. Macroglossia can lead to abnormal breathing, feeding, speech, and dentoskeletal development. Partial glossectomy is a common intervention aimed at reducing these abnormalities.
View Article and Find Full Text PDFFront 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.
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 PDFRadiographics
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.
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