HYPERINSULINISM-HYPERAMMONEMIA SYNDROME
IN AN INFANT WITH SEIZURES
Strajnar A1, Tansek MZ2, Podkrajsek KT3,4, Battelino T2,5, Groselj U
*Corresponding Author: Assistant Professor Urh Groselj, M.D., Ph.D., Department of Pediatric Endocrinology, Diabetes
and Metabolic Diseases, University Children’s Hospital, University Medical Centre Ljubljana, Bohoriceva 20, 1000 Ljubljana,
Slovenia. Tel: +386-1-5229270. Fax: +386-1-2320190. E-mail: urh.groselj@ kclj.si
page: 77
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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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