Abstract
Congenital hyperinsulinism is a rare hereditary condition that is caused by various
gene mutations related to the function of the pancreatic β-cells. It is characterized
by dysregulation of insulin secretion leading to profound and recurrent hypoglycemia.
Its clinical presentation, histology, response to treatment, and underlying genetic
defects are variable making it a heterogeneous condition. Pancreatectomy is indicated
in diazoxide un-responsive cases. However, surgical treatment is associated with the
possibility of persistent hypoglycemia and iatrogenic diabetes. We report a 3 months
old girl who presented with hyperinsulinemic hypoglycemia. She was born to consanguineous
parents and had a history of four neonatal deaths in siblings. Whole exome sequencing
detected a KCNJ11 variant c.350_352del p.(Phe117del) in a homozygous state. Pancreatic scan (positron
emission tomography/computed tomography) showed a diffusely increased radioisotope
uptake in the head and tail of the pancreas. She was resistant to diazoxide and nifedipine
and was shifted to octreotide treatment through multiple daily subcutaneous injections
initially. Treatment was changed to monthly depot injection of octreotide that resulted
in euglycemia. She kept a normal rate of growth, insulin-like growth factor-1, and
liver function. This case is an example of an alternative effective medical therapy
that avoids major surgical intervention and prevents long-term complication of recurrent
hypoglycemia and iatrogenic diabetes resulting after surgery.
Keywords
congenital hyperinsulinism - KCNJ11 - hypoglycemia - octreotide
