title: [Functional disorder of the hypothalamic osmoreceptor as the cause of excessive hypernatremia in a girl with absence epilepsy].
abstract: BACKGROUND
  Chronic hypernatremia is a rare disorder in childhood and normally results from impairment of the water homeostasis. In some cases, chronic hypernatremia is caused by decreased intake of water based on impaired thirst perception.
  
  
  METHODS
  We report a girl with microcephaly, partial agenesis of the corpus callosum, mild midface hypoplasia and absence seizures, who presented with severe hypernatremia (serum sodium concentration 189 mmol/l). Though serum osmolality was increased up to 382 mOsm/kg, the girl showed no signs of thirst. After normalization by intravenous fluid therapy, serum osmolality and serum sodium concentration remained in the normal range with an oral water intake of at least 1500 ml/d. Polyuria was never present, the ability to concentrate urine was preserved.
  
  
  CONCLUSIONS
  In summary, we speculate that the chronic hypernatremia in our patient is caused by a selective hypothalamic osmoreceptor dysfunction associated with mild dysplasia of the midline structures. Only very few similar cases have been documented in the literature.
authors.affiliation: Klinik mit Poliklinik für Kinder und Jugendliche, Universität Erlangen-Nürnberg.
authors.forename: A
authors.initials: A
authors.lastname: Koch
authors.forename: M
authors.initials: M
authors.lastname: Zant
authors.forename: B
authors.initials: B
authors.lastname: Zimmermann
authors.forename: D
authors.initials: D
authors.lastname: Wenzel
authors.forename: H G
authors.initials: HG
authors.lastname: Dörr
mesh_terms: D061085:Agenesis of Corpus Callosum; D002648:Child; D003337:Corpus Callosum / Q000503:physiopathology; D004832:Epilepsy, Absence / Q000503:physiopathology*; D005260:Female; D006801:Humans; D006955:Hypernatremia / Q000503:physiopathology*; D007031:Hypothalamus / Q000503:physiopathology*; D007671:Kidney Concentrating Ability / Q000502:physiology; D013894:Thirst / Q000502:physiology; D014882:Water-Electrolyte Balance / Q000502:physiology*
vernacular_title: Funktionsstörung des hypothalamischen Osmorezeptors als Ursache für eine exzessive Hypernatriämie bei einem Mädchen mit Absencenepilepsie.