Document Detail

Familial hyperinsulinism-hyperammonemia syndrome in a family with seizures: case report.
MedLine Citation:
PMID:  21073125     Owner:  NLM     Status:  MEDLINE    
Hyperinsulinism-hyperammonemia (HI/HA) syndrome is the second most frequent cause of congenital hyperinsulinism (CHI) and it is characterized by recurrent symptomatic hypoglycemia and persistent hyperammonemia. We describe the familial case of a 2-year-old child and her 32-year-old mother who, having suffered from tonic-clonic seizures since infancy, had both been diagnosed with epilepsy and treated with sodium valproate. Hypoglycemia was identified in the child in routine analysis. Six days after admission, a complete study of hypoglycemia showed test results compatible with hyperinsulinemic hypoglycemia and hyperammonemia. A mutation in the GDH gene (Arg269His) confirmed the diagnosis in both the mother and the child. An important peculiarity of this case is the diagnosis of a 32-year-old woman, previously diagnosed with epilepsy through her daughter's diagnosis at a Pediatric Endocrinology Department and subsequently treated ineffectively with sodium valproate. We conclude that, as hypoglycemia may be subtle, the diagnosis of HI/HA should be considered in children or adults with seizures/epilepsy and hyperammonemia, serum ammonia being a simple screening test for the disease.
Javier de las Heras; Intza Garin; Guiomar Perez de Nanclares; Anibal Aguayo; Itxaso Rica; Luis Castaño; Amaia Vela
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of pediatric endocrinology & metabolism : JPEM     Volume:  23     ISSN:  0334-018X     ISO Abbreviation:  J. Pediatr. Endocrinol. Metab.     Publication Date:  2010 Aug 
Date Detail:
Created Date:  2010-11-15     Completed Date:  2010-11-30     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9508900     Medline TA:  J Pediatr Endocrinol Metab     Country:  England    
Other Details:
Languages:  eng     Pagination:  827-30     Citation Subset:  IM    
Endocrinology and Diabetes Research Group, Cruces Hospital, CIBERDEM CIBERER Barakaldo, Vizcaya, Spain.
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MeSH Terms
Anticonvulsants / therapeutic use
Child, Preschool
Family Health
Glutamate Dehydrogenase / genetics
Hyperammonemia / diagnosis,  drug therapy,  genetics*
Persistent Hyperinsulinemia Hypoglycemia of Infancy / diagnosis,  drug therapy,  genetics*
Seizures / diagnosis,  drug therapy,  genetics*
Valproic Acid / therapeutic use
Reg. No./Substance:
0/Anticonvulsants; 99-66-1/Valproic Acid; EC Dehydrogenase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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