Introduction: Beckwith-Wiedemann syndrome (BWS) is a genetic disorder with typical features such as macroglossia, abdominal wall defects, macrosomia, visceromegaly and embryonal tumors. Hypoglycemia is reported in about half of all newborns with BWS, usually resolving spontaneously within the first month of life. However, 5% suffer from severe and prolonged hypoglycemia necessitating intensive medical treatment, and a small number of these patients need a near-total pancreatectomy. Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in newborns, most frequently caused by changes in the genes <i>ABCC8</i> and <i>KCNJ11</i>, coding for the ATP-dependent potassium channel of the pancreatic B cell.Material and methods: A premature girl born at 33 weeks of gestation had severe, early-onset hypoglycemia, non-responsive to intravenous glucose, diazoxide, octreotid and glucagon, necessitating 95% pancreatectomy at 20 days of age. The patient also had an abdominal wall defect, hemihypertrophy and visceromegaly. Today, at the age of four years, she only needs a small dosage of diazoxide.Results: A preoperative F-18-DOPA PET/CT scan showed diffuse uptake of the radiotracer throughout the entire pancreas. Genetic testing revealed paternal uniparental disomy of the entire chromosome 11, consistent with BWS, while <i>ABCC8</i>, <i>KCNJ11</i> and other known CHI genes were normal. The left-sided resection specimen measured 10x20x70 mm. Histologically, confluent small islets and trabeculi of endocrine cells with uniform nuclei and sparse cytoplasm were observed throughout the pancreas. Most of the endocrine cells expressed insulin, while cells positive for glucagon and somatostatin were observed at the periphery of the confluent trabeculi and islets. The endocrine cells occupied more than 50% of the parenchyma. The entire resected tissue showed these changes, as opposed to classical focal CHI which usually presents as a focal adenomatous hyperplasia measuring 2-10 mm. Acinar cells and small ducts were mainly confined to the periphery of the pancreatic lobules. In addition, a focus of pancreatoblastoma measuring 3x1 mm was noted. Discussion and conclusion: In this report of premature neonate with severe CHI due to BWS requiring near-total pancreatectomy, we found diffuse adenomatous hyperplasia of endocrine cells. These microscopic features differ from the focal, diffuse and atypical forms of CHI. We were able to identify only 11 similar cases in the published literature. The combination of these changes associated with a focus of pancreatoblastoma, however, has only been reported once before. The patient is on continuous follow up, mainly due to the risk of development of other embryonal tumors.
|Status||Udgivet - 2015|
|Begivenhed||Annual Meeting of the Danish Pathology Society (DPAS) - Nyborg, Danmark|
Varighed: 12. mar. 2015 → 14. mar. 2015
|Konference||Annual Meeting of the Danish Pathology Society (DPAS)|
|Periode||12/03/2015 → 14/03/2015|