A clinical case of congenital hyperinsulinism in an early child

Abstract

A clinical case of congenital hyperinsulinism, diffuse form, pharmacoresistant course (heterozygous mutation of p. 1361 1363 dup CGG in the GCK gene) in an early child is presented as an example of an orphan severe disease with an extremely unfavorable course and a probability of deterioration of the long-term prognosis. The goal was to highlight the clinical manifestations, course options, and complexity of treatment of this pathology to a wide range of doctors of different specialties in the field of Pediatrics in terms of improving the quality and timeliness of diagnosis, reducing the number of complications with the formation of irreparable consequences. Attention is drawn to the most severe course of hypoglycemic conditions in the early neonatal period, the dependence of the formation of a pronounced neurological deficit on the degree and duration of hypoglycemia, which emphasizes the importance of their timely correction to preserve the quality of life of this contingent of children.

Keywords

• newborns
• children
• hypoglycemia
• congenital hyperinsulinism
• neurological deficit