Beckwidth-Wiedemann Syndrome

  Beckwith-Wiedemann Syndrome: A Rare Genetic Disorder Introduction Beckwith-Wiedemann Syndrome (BWS) is a rare genetic disorder characterized by overgrowth, abdominal wall defects, macroglossia (enlarged tongue), and various other clinical features. First described by Drs. J. Bruce Beckwith and Hans-Rudolf Wiedemann in the 1960s, BWS affects approximately 1 in every 13,700 live births. This paper aims to provide an overview of the history, statistics, diagnosis, treatment, and prognosis of BWS. History and Statistics BWS was first recognized and described independently by Drs. Beckwith and Wiedemann in the early 1960s. Since then, significant progress has been made in understanding its underlying genetic causes and associated clinical manifestations. BWS is considered a complex genetic disorder with heterogeneous genetic and epigenetic abnormalities. Statistics indicate that BWS occurs sporadically in most cases, although there is evidence of familial inheritance in a small percentage of individuals. The exact prevalence of BWS may vary across different populations and geographic regions. Ultrasound in the Diagnosis of BWS Ultrasound plays a crucial role in the prenatal diagnosis of BWS. It allows for the detection of various fetal abnormalities associated with BWS, including omphalocele (abdominal wall defect), organomegaly (enlarged organs), macroglossia, and renal abnormalities. In addition to these specific findings, ultrasound can also help assess fetal growth patterns, which may be indicative of BWS. However, it is important to note that ultrasound findings alone are not sufficient for a definitive diagnosis of BWS. Genetic testing is required to confirm the presence of genetic or epigenetic alterations associated with BWS. Correlative Imaging with Ultrasound In some cases, additional imaging techniques may be necessary to complement the information obtained from ultrasound. Magnetic resonance imaging (MRI) can provide more detailed anatomical information and aid in the assessment of specific organ involvement, such as the liver, kidneys, and adrenal glands. Moreover, molecular imaging techniques, such as positron emission tomography (PET) scans, can be used to evaluate glucose metabolism and tumor growth in individuals with BWS who are at an increased risk of developing certain tumors, such as hepatoblastoma. Treatment and Prognosis The treatment of BWS is primarily focused on managing the associated clinical features and complications. The specific interventions depend on the individual’s unique presentation and may involve a multidisciplinary approach involving various medical specialists. For example, surgical correction may be required to address abdominal wall defects or macroglossia. Regular monitoring and management of other associated conditions, such as hypoglycemia, organomegaly, and increased tumor surveillance, are also essential components of care. The long-term prognosis for individuals with BWS varies depending on the severity of the clinical features and the presence of associated complications. With appropriate medical management and regular follow-up, many individuals with BWS can lead productive lives. However, it is important to note that certain individuals may be at an increased risk of developing certain tumors, which require careful monitoring and early intervention if necessary. Drawings, Illustrations, or Sonograms (Include relevant drawings, illustrations, or sonograms to enhance understanding) Three Questions for Discussion during PowerPoint Presentation What are the main clinical features associated with Beckwith-Wiedemann Syndrome? How does ultrasound assist in the prenatal diagnosis of BWS? What are the key treatment considerations for individuals with BWS? References Brioude F, Kalish JM, Mussa A, et al. Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: An international consensus statement. Nat Rev Endocrinol. 2018;14(4):229-249. Mussa A, Di Candia S, Russo S, et al. Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome. Eur J Med Genet. 2016;59(1):52-64. Scott RH, Stiller CA, Walker L, Rahman N. Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour. J Med Genet. 2006;43(9):705-715. Watanabe H, Francis JM, Woo MS, et al. Integrated cistromic and expression analysis of amplified NKX2-1 in lung adenocarcinoma identifies LMO3 as a functional transcriptional target. Genes Dev. 2009;23(7):2083-2097.

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