ESPE Abstracts

Abstract: Hypoglycemia is a frequent and one of the major metabolic emergencies in any age, causing a significant dilemma to reach the correct diagnosis and perform the appropriate management. it Has potentially devastating consequences on brain development and cognitive functions. It Is a heterogeneous disorder with many different possible etiologies, including hyper-insulinism, glycogen storage diseases, fatty acid oxidation defects, hormonal deficiencies (growth hormone deficiency, glucocorticoid deficiency) other inborn error of metabolism, drug poisoning, and others. Congenital hyperinsulinism is the most common cause of hypoglycemic hyperinsulinemia in infants and is due to beta-cell hyperplasia caused by genetic defects. But the genetic testing surprised us by different etiologies and diagnoses.

Methods: we studied 8 cases presented by hypoglycemia; 4 females and 4 males, aging from 20 days to 15 years All were subjected to the following:

• History, full detailed physical examination, Anthropometric measurements: Height standard deviation (SD).

• Liver enzymes (ALT&AST), Liver function tests (albumin and prothrombin time),

• Golden sample of hypoglycemia : serum insulin, serum c-peptide, growth hormone, cortisol, ACTH, ketone bodies in blood,

• ABG and AG

• Chemistry : liver enzyme and electrolytes (sodium, potassium)

• Molecular Genetic Testing by Whole exome sequencing by collecting two millilitres of blood from each subject in a sterile EDTA vacutainer for the genotyping technique

Conclusion: We conclude that hypoglycemia in children is really a difficult challenge to reach the appropriate and accurate diagnosis