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Hyperinsulinism-hyperammonemia Syndrome in an Infant with Seizures
A Strajnar1, M Z Tansek2, K T Podkrajsek3,4
1University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Insights
Hyperinsulinism-hyperammonemia syndrome (HI/HA), a common cause of infant hypoglycemia, often presents subtly. Early diagnosis and diazoxide treatment are crucial for normal development.
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.
Abstract:
Hyperinsulinism-hyperammonemia syndrome (HI/HA) is the second most common form of persistent hyperinsulinemic hypoglycemia of infancy (PHHI). The main clinical characteristics of HI/HA syndrome are repeated episodes of symptomatic hypoglycemia, but not usually severe. Consequently, children with HI/HA syndrome are frequently not recognized in the first months of life. An 8-month-old boy was admitted to a hospital due to hypoglycemia seizures. He also had asymptomatic hyperammonemia with no signs of lethargy or headaches. Genetic testing revealed autosomal dominant syndrome, a mutation in the GLUD1 gene (p.Arg274Cys). The boy started treatment with diazoxide. Subsequent growth and neurological development were normal. Hypoglycemic symptoms in HI/HA syndrome may vary from being non specific to severe. As hypoglycemia could lead to brain injury and impairment of neurological development, timely diagnosis and management are essential. If transient hypoglycemia is ruled out, metabolic disorders must be taken into account.
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