["Essential hypernatremia" as a result of on increased osmoreceptor threshold in a boy with Pierre-Robin disease and corpus callosum agenesis].
Hypernatremia was found as a cause of recurrent fever episodes in a 18 month old boy with Mb, Pierre-Robin and agenesia of the corpus callosum. We found values of serum-sodium until 160 mVal/l. Examinations of the osmotic regulation showed a so called "essential hypernatremia" without polyuria and polydipsi. Therefore must be responsible a defect of the osmotic center and thirst center in the hypothalamic area. As therapy a diet of 1000 ml = 1000 kcal = 100 mg Sodium/d. was successful.
D061085:Agenesis of Corpus Callosum; D004039:Diet, Sodium-Restricted; D005335:Fever of Unknown Origin / Q000503:physiopathology; D006801:Humans; D006955:Hypernatremia / Q000503:physiopathology*; D007031:Hypothalamus / Q000503:physiopathology; D007223:Infant; D008297:Male; D010855:Pierre Robin Syndrome / Q000503:physiopathology*; D012964:Sodium / Q000097:blood; D014882:Water-Electrolyte Balance
D012964:Sodium
"Essentielle Hypernatriämie" infolge erhöhter Osmorezeptorenschwelle bei einem Knaben mit Mb. Pierre-Robin und Balkenagenesie.