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Pancreatic surgery in infants with Beckwith-Wiedemann syndrome and hyperinsulinism
Pablo Laje1, Andrew A Palladino, Tricia R Bhatti
1Department of Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Center for Congenital Hyperinsulinism, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Insights
Pancreatectomy effectively manages severe congenital hyperinsulinism (HI) in infants with Beckwith-Wiedemann syndrome (BWS) when medical treatments fail. Surgical reduction of pancreatic endocrine tissue resolves hypoglycemia, but close tumor surveillance is essential.
Area of Science:
- Pediatric Endocrinology
- Surgical Management of Neonatal Diseases
- Genetics of Endocrine Disorders
Background:
- Beckwith-Wiedemann syndrome (BWS) is associated with an increased risk of congenital hyperinsulinism (HI).
- Severe HI in BWS often presents as diazoxide- or octreotide-resistant hypoglycemia, necessitating aggressive management.
- Pancreatic endocrine overgrowth is a key feature of HI in BWS patients.
Purpose of the Study:
- To evaluate the efficacy of pancreatectomy in managing severe congenital hyperinsulinism (HI) in infants with Beckwith-Wiedemann syndrome (BWS).
- To present surgical outcomes and long-term follow-up for BWS patients undergoing pancreatectomy for refractory HI.
Main Methods:
- Retrospective chart review of BWS patients who underwent pancreatectomy between 2009 and 2012.
- Diagnosis of BWS confirmed by genetic testing (11p15 LOH/UPD).
- Assessment of HI severity based on glucose infusion rates and response to medical management; imaging via 18-F-DOPA PET/CT.
Main Results:
- Four BWS infants with severe, medically refractory HI underwent pancreatectomy (75-95% resection).
- Pathology revealed diffuse endocrine proliferation and islet cell nucleomegaly; one patient had a pancreatoblastoma.
- All post-pancreatectomy patients achieved safe fasting, resolving hypoglycemia; one developed hepatoblastoma requiring surveillance.
- Eight other BWS patients with HI were managed successfully with medical therapy alone.
Conclusions:
- Severe HI in BWS is often linked to multifactorial pathophysiology and significant pancreatic endocrine hyperplasia.
- Subtotal or near-total pancreatectomy is an effective treatment for severe, medically intractable HI in BWS patients.
- Pancreatectomy resolves hypoglycemia but necessitates ongoing surveillance for embryonal tumors associated with BWS.
Purpose:
To present our experience in the care of infants with Beckwith-Wiedemann syndrome (BWS) who required pancreatectomy for the management of severe Congenital Hyperinsulinism (HI).
Methods:
We did a retrospective chart review of patients with BWS who underwent pancreatectomy between 2009 and 2012.
Results:
Four patients with BWS and severe HI underwent pancreatectomy, 3 females and one male. Eight other BWS patients with HI could be managed medically. The diagnosis of BWS was established by the presence of mosaic 11p15 loss of heterozygosity and uniparental disomy in peripheral blood and/or pancreatic tissue. All patients had hypoglycemia since birth that did not respond to medical management with diazoxide or octreotide, and required glucose infusion rates of up to 30 mg/kg/min. Preoperative 18-F-DOPA PET/CT scans showed diffuse uptake of the radiotracer throughout an enlarged pancreas in three patients and a normal sized pancreas with a large area of focal uptake in the pancreatic body in one patient. None of the patients had mutations in the ABCC8 or KCNJ1 genes that are typically associated with diazoxide-resistant HI. Age at surgery was 1, 2, 4, and 12 months and the procedures were 85%, 95%, 90%, and 75% pancreatectomy, respectively, with the pancreatectomy extent tailored to HI severity. Pathologic analysis revealed marked diffuse endocrine proliferation throughout the pancreas that occupied up to 80% of the parenchyma with scattered islet cell nucleomegaly. One patient had a small pancreatoblastoma in the pancreatectomy specimen. The HI improved in all cases after the pancreatectomy, with patients being able to fast safely for more than 8 h. All patients are under close surveillance for embryonal tumors. One patient developed a hepatoblastoma at age 2.
Conclusion:
The pathophysiology of HI in BWS patients is likely multifactorial and is associated with a dramatic increase in pancreatic endocrine tissue. Severe cases of HI that do not respond to medical therapy improve when the mass of endocrine tissue is reduced by subtotal or near-total pancreatectomy.
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