ESPE Abstracts

Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder, occurring in 1/13,700 births. BWS is usually sporadic, but 15% of cases are familial. Variable phenotype may include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, lateralized overgrowth and predisposition to embryonal tumors. We describe three male cases of BWS followed at our clinic.

Case 1: Born of a gestation complicated by gestational diabetes. Delivery at 36 weeks by cesarean section with birth weight of 4600g (Z-score 4,12). The neonatal period was uneventful. At five years old, he had learning disability and a language disorder and on physical exam macroglossia and dysmorphic facial features were noticed. Genetic testing confirmed BWS. He was lost to follow-up and reevaluated at 17 years-old. Abdominal ultrasounds and cardiac evaluation were normal. He is currently 18 years-old, and his height is 196 cm (Z-score 2,97).

Case 2: Born at 27 weeks by spontaneous vaginal delivery, with birth weight of 1350 grams (Z-score 2,20), APGAR score 8-5-5, requiring neonatal resuscitation. There were no records of hypoglycemia events. Physical examination revealed macroglossia, umbilical hernia, abdominal and occipital hemangiomas and facial nevus flammeus. Abdominal ultrasound showed hepatic hemangiomas. Genetic testing confirmed BWS. At the 9 months, he developed non-autoimmune primary hypothyroidism and started levothyroxine replacement. Later on, development delay and learning disability were noticed. Abdominal ultrasound and α-fetoprotein (AFP) screening were normal. He is currently six years-old and measures 116,5 cm (Z-score 2,00).

Case 3: Born at term after an uneventful pregnancy, with birth weight 3090 grams (Z-score 0,32). He presented seizures in the first hours of life. Laboratory workup revealed polycythemia and severe hypoglycemia (<20mg/dL). Relevant findings on physical examination included dysmorphic facial features, macroglossia, aplasia cutis and hypospadias. Genetic testing confirmed BWS. Neurodevelopment assessment revealed development delay. Scheduled screening evaluations have been normal so far. He is currently seven years-old and his height is 133,4 cm (Z-score 2,00).

Conclusion: BWS remains a diagnostic challenge and the existence of milder forms of the disease probably underestimates its incidence. Infants with BWS are at increased risk for mortality, due to complications of prematurity, macroglossia, hypoglycemia, tumors, and, rarely, cardiomyopathy. These cases presented with macroglossia, one with hypoglycemia and two with prematurity but none developed tumors. The increased risk for neoplasia occurs in the first eight years of life. Prognosis is generally favorable after early childhood. Embryonal tumors’ screening should be stratified according to genotype and multidisciplinary approach should be performed.