A newborn has macroglossia, omphalocele, hemihypertrophy, and birth weight 4.8 kg. Neonatal blood glucose is persistently 28 mg/dL despite feeds. The diagnosis is Beckwith-Wiedemann syndrome (BWS). The most important surveillance protocol for this child is:

• A Annual MRI brain for medulloblastoma risk
• B Annual chest X-ray for pulmonary metastases
• C Abdominal ultrasound every 3 months until age 8 years for Wilms' tumor/hepatoblastoma ✓
• D Echocardiography every 6 months for cardiomegaly risk

Explanation

Beckwith-Wiedemann syndrome (BWS) is a chromosomal 11p15.5 imprinting disorder causing overgrowth, macroglossia, omphalocele, hemihypertrophy, and neonatal hypoglycemia (from pancreatic beta-cell hyperplasia). BWS carries a significantly increased risk of embryonal tumors — principally Wilms' tumor (nephroblastoma) and hepatoblastoma. The recommended surveillance is abdominal ultrasound every 3 months until age 8 years (when tumor risk substantially declines). Serum AFP is added for hepatoblastoma monitoring in infants. This early detection surveillance has dramatically improved outcomes. Medulloblastoma association exists with Gorlin syndrome (PTCH1), not BWS.

Reference: Ghai Essential Pediatrics, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.