Case report: Severe asymptomatic hyponatremia in Prader-Willi Syndrome

Daniel Landau, Harry J. Hirsch, Varda Gross-Tsur

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

Background: Prader-Willi syndrome is a complex neurogenetic, multisystem disorder. Despite the variable endocrine abnormalities and hypothalamic-pituitary axis dysfunction, hyponatremia has been reported in only a few PWS patients. In previously reported PWS individuals, hyponatremia was associated with abnormal fluid intake or during desmopressin treatment. Case presentation: We describe an infant with Prader-Willi syndrome who had severe, prolonged asymptomatic hyponatremia without a history of excessive fluid intake or desmopressin treatment. We compare the findings with those of the few other reported cases and describe, for the first time, results of a hypertonic saline infusion test and studies of adrenal cortical function. Conclusion: Hyponatremia should be suspected in children with Prader-Willi syndrome, especially in infants with severe failure to thrive. Further studies are needed to determine the pathophysiology of hyponatremia in this syndrome.

Original languageEnglish
Article number28
JournalBMC Pediatrics
Volume16
Issue number1
DOIs
StatePublished - 18 Feb 2016

Keywords

  • Adrenocortioctrophic hormone (ACTH) test
  • Anti-diuretic hormone (ADH)
  • Hyponatremia
  • Prader-Willi syndrome (PWS)

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