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Beckwith-Wiedemann Syndrome Workup

  • Author: Sunil Sinha, MD; Chief Editor: Stephen Kemp, MD, PhD  more...
 
Updated: Nov 17, 2014
 

Laboratory Studies

The following studies may be indicated in patients with suspected Beckwith-Wiedemann syndrome (BWS):

  • Proper documentation of hypoglycemia (blood glucose < 60 mg/dL) requires proper sample collection and processing. Guidelines for the monitoring and treatment of hypoglycemia have been established.[8, 9]
    • Ideally, blood samples for glucose assessment should be processed immediately after collection. Cells in the blood sample continue to metabolize glucose, even at cold temperatures, leading to falsely low glucose values and falsely high lactate values. Collecting the blood in a sodium fluoride-lined tube (gray top tube) inhibits glycolysis, reducing the likelihood of falsely low values.
    • Measurements made with portable glucometers are useful for screening but not for diagnosis of hypoglycemia. Portable glucometers are widely available and relatively inexpensive, which are their primary advantages in the outpatient management of diabetes mellitus. These devices, however, were not designed for accuracy because distinguishing between blood glucose values of 200 and 220 mg/dL, for example, is less important than making the device convenient and affordable. When compared with central laboratory assays, these glucometers display as high as 20% inaccuracy at the lower ranges. For diagnostic purposes (during fasting studies and in other hospital settings), blood glucose should be measured in the central hospital laboratory, preferably by the well-established glucose oxidase method. Portable glucometers remain useful for monitoring blood sugar on an outpatient basis, but persistent low values should prompt consultation with the physician.
    • At the time of hypoglycemia, obtain plasma ketones (acetoacetate and b-hydroxybutyrate), plasma free fatty acid, serum insulin, and serum IGF levels (IGF-1 and IGF-2 by radioimmunoassay; large molecular weight forms of IGF-2 can be detected by Western ligand blot).
    • If intravenous or intramuscular administration of 1 mg glucagon at the time of hypoglycemia results in a rise of blood glucose of at least 30 mg/dL above baseline, the test is consistent with inappropriately conserved glycogen stores as observed in hyperinsulinism or panhypopituitarism.
  • Patients with Beckwith-Wiedemann syndrome should be screened for hypercalciuria. A single random, nonfasting urine sample obtained at each health maintenance visit is adequate for this purpose.
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Imaging Studies

Longitudinal abdominal ultrasonography has been suggested to screen for embryonal tumors, although it should be performed concomitantly with training parents to examine their child's abdomen. Most authorities recommend at least biannual abdominal ultrasonographic examinations; however, in 1983, Professor Wiedemann recommended that children with Beckwith-Wiedemann syndrome undergo renal sonography at 3-month intervals through the third year of life and at 6-month intervals thereafter. Recent reports of rapidly presenting Wilms tumors in patients with Beckwith-Wiedemann syndrome continue to support this traditional guideline.

Chest radiography may exclude rare neural crest tumors such as thoracic neuroblastoma.

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Procedures

Perform an inpatient fasting study to identify the cause of hypoglycemia. Acute insulin response testing (currently available only as research protocol at the Children's Hospital of Philadelphia) may be performed to differentiate from known forms of congenital hyperinsulinism.

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Contributor Information and Disclosures
Author

Sunil Sinha, MD Assistant Professor, Division of Pediatric Endocrinology and Metabolism, Department of Pediatrics, University of Tennessee Health Science Center

Sunil Sinha, MD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, Endocrine Society, Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Barry B Bercu, MD Professor, Departments of Pediatrics, Molecular Pharmacology and Physiology, University of South Florida College of Medicine, All Children's Hospital

Barry B Bercu, MD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, American Medical Association, American Pediatric Society, Association of Clinical Scientists, Endocrine Society, Florida Medical Association, Pediatric Endocrine Society, Society for Pediatric Research, Southern Society for Pediatric Research, Society for the Study of Reproduction, American Federation for Clinical Research, Pituitary Society

Disclosure: Nothing to disclose.

Chief Editor

Stephen Kemp, MD, PhD Former Professor, Department of Pediatrics, Section of Pediatric Endocrinology, University of Arkansas for Medical Sciences College of Medicine, Arkansas Children's Hospital

Stephen Kemp, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, American Pediatric Society, Endocrine Society, Phi Beta Kappa, Southern Medical Association, Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Additional Contributors

Phyllis W Speiser, MD Chief, Division of Pediatric Endocrinology, Steven and Alexandra Cohen Children's Medical Center of New York; Professor of Pediatrics, Hofstra-North Shore LIJ School of Medicine at Hofstra University

Phyllis W Speiser, MD is a member of the following medical societies: American Association of Clinical Endocrinologists, Endocrine Society, Pediatric Endocrine Society, Society for Pediatric Research

Disclosure: Nothing to disclose.

Acknowledgements

Robert J Ferry Jr, MD Le Bonheur Chair of Excellence in Endocrinology, Professor and Chief, Division of Pediatric Endocrinology and Metabolism, Department of Pediatrics, University of Tennessee Health Science Center

Robert J Ferry Jr, MD is a member of the following medical societies: American Academy of Pediatrics, American Diabetes Association, American Medical Association, Endocrine Society, Pediatric Endocrine Society, Society for Pediatric Research, and Texas Pediatric Society

Disclosure: Eli Lilly & Co Grant/research funds Investigator; MacroGenics, Inc Grant/research funds Investigator; Ipsen, SA (formerly Tercica, Inc) Grant/research funds Investigator; NovoNordisk SA Grant/research funds Investigator; Diamyd Grant/research funds Investigator; Bristol-Myers-Squibb Grant/research funds Other; Amylin Other; Pfizer Grant/research funds Other; Takeda Grant/research funds Other

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Gross nephrectomy specimen shows a Wilms tumor pushing the normal renal parenchyma to the side.
 
 
 
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