Hyperinsulinism-hyperammonemia Syndrome in an Infant with Seizures

Area of Science:

• Pediatrics
• Genetics
• Metabolic Disorders

Background:

• Hyperinsulinism-hyperammonemia syndrome (HI/HA) is the second most frequent cause of persistent hyperinsulinemic hypoglycemia of infancy (PHHI).
• Clinical presentation of HI/HA syndrome often involves recurrent, non-severe symptomatic hypoglycemia, leading to delayed diagnosis.
• Asymptomatic hyperammonemia can coexist with hypoglycemia in HI/HA syndrome.

Purpose of the Study:

• To highlight the clinical presentation and genetic basis of Hyperinsulinism-hyperammonemia syndrome (HI/HA).
• To emphasize the importance of timely diagnosis and management of HI/HA syndrome to prevent neurological complications.

Main Methods:

• Case report of an 8-month-old boy presenting with hypoglycemia seizures.
• Genetic testing to identify the underlying mutation.
• Clinical observation of treatment response and developmental outcome.

Main Results:

• The patient exhibited hypoglycemia seizures and asymptomatic hyperammonemia.
• Genetic analysis confirmed an autosomal dominant mutation in the GLUD1 gene (p.Arg274Cys).
• Treatment with diazoxide resulted in normal growth and neurological development.

Conclusions:

• HI/HA syndrome diagnosis requires consideration of metabolic disorders when transient hypoglycemia is excluded.
• Prompt recognition and management of HI/HA syndrome are vital to avert potential brain injury and developmental impairment.
• Diazoxide is an effective treatment for HI/HA syndrome, promoting favorable long-term outcomes.