Abstract
Neonatal hypoglycemia (NH) is one of the most common abnormalities encountered in the newborn. Hypoglycemia continues to be an important cause of morbidity in neonates and children. Prompt diagnosis and management of the underlying hypoglycemia disorder is critical for preventing brain damage and improving outcomes. Congenital hyperinsulinism (CHI) is the most common and severe cause of persistent hypoglycemia in neonates and children, it represents a group of clinically, genetically and morphologically heterogeneous disorders characterised by dysregulation of insulin secretion from pancreatic β-cells. It is extremely important to recognize this condition early and institute appropriate management to prevent significant brain injury leading to complications like epilepsy, cerebral palsy and neurological impairment. Histologically, CHI is divided mainly into two types focal and diffuse disease. The diffuse form is inherited in an autosomal recessive (or dominant) manner whereas the focal form is sporadic in inheritance and is localized to a small region of the pancreas. Recent discoveries of the genetic causes of CHI have improved our understanding of the pathophysiology, but its management is complex and requires the integration of clinical, biochemical, molecular, and imaging findings to establish the appropriate treatment according to the subtype. Here we present a case of sever congenital hyperinsulinism in a girl admitted for lethargy, irritability and general seizures accompanied with profound hypoglycemia, in spite of aggressive medical treatment, she died because of sever congenital hyperinsulinism diazoxide unresponsive.
Highlights
Glucose is a source of energy storage in the form of glycogen, fat, and protein
Patients with Congenital hyperinsulinism (CHI) have increased risk of brain injury secondary to the metabolic actions of insulin, which acts by driving glucose into the insulin sensitive tissues and by inhibiting glucose production by glycolysis and gluconeogenesis [7]
CHI is a genetic disorder caused by mutations in the regulation of the potassium channel which is closely involved in insulin secretion by the pancreatic β cell
Summary
Glucose is a source of energy storage in the form of glycogen, fat, and protein. Glucose provides 38mol of Adenosine Triphosphate (ATP) per mol of glucose oxidized. The hormonal changes (decrease in plasma insulin and increase in glucagon and catecholamines) at birth allow the newborn infant to adapt successfully to interrupted supply of nutrients Disturbances in this smooth transition can result in neonatal hypoglycemia. The treatment was started with increasing glucose infusions (maximum of 22 mg/kg/min) for maintaining normoglycaemia in combination with oral diazoxide (20 mg/kg/day) This measure was not effective and repeated episodes of hypoglycemia were observed 2-3 times a day leading to combined treatment with intramuscular injections of Octreotide (40 mg/kg/day) maintained glycemia within normal range for several days, yet it had to be discontinued because of side effects (persistent vomiting, functional invagination). A surgical opinion for possible pancreatectomy was made in light of the high Glucose infusion requirement and initial diazoxide unresponsiveness while continuing with the aggressive medical management, pending genetic study report She died at the 6 months of age because of generalized seizures accompanied with profound hypoglycemia
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
