title: Familial hyperinsulinism-hyperammonemia syndrome in a family with seizures: case report.
abstract: 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.
authors.affiliation: Endocrinology and Diabetes Research Group, Cruces Hospital, CIBERDEM CIBERER Barakaldo, Vizcaya, Spain.
authors.forename: Javier
authors.initials: J
authors.lastname: de las Heras
authors.forename: Intza
authors.initials: I
authors.lastname: Garin
authors.forename: Guiomar Perez
authors.initials: GP
authors.lastname: de Nanclares
authors.forename: Anibal
authors.initials: A
authors.lastname: Aguayo
authors.forename: Itxaso
authors.initials: I
authors.lastname: Rica
authors.forename: Luis
authors.initials: L
authors.lastname: Castaño
authors.forename: Amaia
authors.initials: A
authors.lastname: Vela
mesh_terms: D000328:Adult; D000927:Anticonvulsants / Q000627:therapeutic use; D002675:Child, Preschool; D044903:Congenital Hyperinsulinism / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D005192:Family Health; D005260:Female; D005969:Glutamate Dehydrogenase / Q000235:genetics; D006801:Humans; D022124:Hyperammonemia / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D009035:Mothers; D009154:Mutation; D012640:Seizures / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D013577:Syndrome; D014635:Valproic Acid / Q000627:therapeutic use
chemical_list: D000927:Anticonvulsants; D014635:Valproic Acid; D005969:Glutamate Dehydrogenase