Hyperinsulinism Presenting In Childhood and Treatment by Conservative Pancreatectomy

Abstract

Objective To describe the uncommon presentation of hyperinsulinism in an 8-year-old boy. Methods We describe the patient's clinical findings, results from biochemical and imaging studies, surgical approach, and outcome. The discussion encompasses a review of literature that provided the basis for the diagnostic and surgical approach applied to this patient's case. Results An obese 8.5-year-old boy initially presented with hypoglycemic seizures after initiation of dietary changes to treat obesity. Biochemical analysis indicated hyperinsulinism. Endoscopic ultrasonography showed no pancreatic lesions suggestive of insulinoma. Genetic studies identified no known mutations in the ABCC8, KCNJ11, GCK, or GLUD1 genes. Selective arterial calcium stimulation and hepatic venous sampling did not document a focal source for hyperinsulinism in the pancreas, and positron emission tomography with 18-fluoro-L-3,4-dihydroxyphenylalanine showed diffusely increased uptake in the pancreas. The patient ultimately required partial pancreatectomy because of continued hypoglycemia while taking diazoxide and octreotide. Intraoperative glucose monitoring directed the extent of surgical resection. A 45% pancreatectomy was performed, which resolved the hypoglycemia but led to impaired glucose tolerance after surgery. Conclusion The unusual presentation of hyperinsulinism in childhood required a personalized approach to diagnosis and surgical management using intraoperative glucose monitoring that resulted in a conservative pancreatectomy.

TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly

“…This greatly reduces the likelihood that neonatal hypoglycaemia is the cause of the neurological deficiency; among children with HI, those who are neurologically damaged invariably had severe neonatal hypoglycaemia and were not microcephalic 18. Furthermore, although HI can present beyond infancy16 19 and hyperinsulism is present in many developmental syndromes,20 they cannot explain much of the abnormality in glucose metabolism in our patients . Clearly, other mechanisms play a role as exemplified by the hypoinsulinaemic ketotic hypoglycaemia documented in patient II-3 (perhaps due to liver involvement).…”

Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management

“…18F-DOPA-PET/CTscan localization and limited surgical removal leads to complete cure of the hypoglycaemia. In contrast, patients with diazoxideunresponsive diffuse disease may require a near-total pancreatectomy which will have lifelong implications (high risk of diabetes mellitus, pancreatic exocrine insufficiency) (92,93).…”

Hyperinsulinaemic Hypoglycaemia: Genetic Mechanisms, Diagnosis and Management

“…18F-DOPA-PET/CT-scan localization and limited surgical removal leads to complete cure of the hypoglycaemia. In contrast, patients with diazoxide-unresponsive diffuse disease may require a near-total pancreatectomy which will have lifelong implications (high risk of diabetes mellitus, pancreatic exocrine insufficiency) (92, 93). …”