Beckwith-Wiedemann Syndrome — Subspecialty Consultations — Clinical Pathway: ICU and Inpatient

Beckwith-Wiedemann Syndrome Clinical Pathway — N/IICU

Subspecialty Consultations

  • Upon admission, consider the following Consultations for patients with Suspected BWS
  • All patients will require Genetics consult
  • See CHOP on-call schedule for contact information
Subspecialty Service Clinical Feature Comment
General Surgery Omphalocele/Umbilical Hernia
  • Contact Genetics anytime the patient undergoes surgery to coordinate tissue collection (test determined and ordered by Genetics)
  • Consideration of pancreatectomy if hyperinsulinism not responsive to medical management
Plastic Surgery
Page plastic surgery resident		 Macroglossia
  • Consideration of tongue reduction surgery (debulking)
  • Plastic surgery and ENT to determine need and timing for tongue reduction surgery (debulking)
  • Consideration of tongue reduction surgery (debulking)
ENT Macroglossia Airway evaluation if indicated
Pulmonary Macroglossia Sleep study to evaluate for OSA
Feeding Team Macroglossia Swallow study
Speech Therapy Macroglossia Feeding difficulties
Physical/Occupational Therapy   Concerns arise due to prolonged hospital course
Endocrinology
  • Hypoglycemia
  • Hyperinsulinism
Oncology Embryonal Tumors
  • Alpha Fetoprotein (AFP)
  • AFP Protein
    • Produced by liver cells
    • Produced at higher levels by hepatoblastoma tumor cells
    • Extremely sensitive way to detect tumor
  • Because AFP levels are normally high during the newborn period, results should be reviewed by an experienced pediatrician, geneticist or pediatric oncologist.
  • AFP Levels
    • Age < 4 years
      • Monitor every 3 months
  • Abdominal ultrasound
    • Every 3 months x 7 years
    • Age < 4 years
      • Complete Abdominal US
      • View all abdominal organs
    • Age > 4 years
      • RBUS with view of adrenal glands
  • The key with AFP levels is to follow the trend — normal levels are expected to decrease over time. Whenever possible, AFP screening should be done at the same center for consistency of results.
  • If AFP results are elevated and no exact value is given, please reach out to Central Lab and have the AFP repeated with dilution (does not require additional lab draw).
Cardiology Congenital Heart Defects Consult cardiology as clinically indicated if ECG abnormalities observed or murmur appreciated
on exam
Pathology Placentomegaly
Mesenchymal Dysplasia		 Evaluation of the placenta based on the clinical diagnostic criteria for BWS. See BWS Chart