Case report: severe asymptomatic hyponatremia in Prader-Willi Syndrome. Issue 1 (December 2016)

• Record Type: Journal Article
• Authors: Landau, Daniel; Hirsch, Harry; Gross-Tsur, Varda
• Is Part Of: BMC pediatrics. Volume 16:Issue 1(2016)
• Page Start: 1
• Page End: 3
• Publication Date: 2016-12
• Subjects: Prader-Willi syndrome (PWS) -- Hyponatremia -- Anti-diuretic hormone (ADH) -- Adrenocortioctrophic hormone (ACTH) test; Pediatrics -- Periodicals; 618.920005
• DOI: 10.1186/s12887-016-0563-4
• Languages: English
• ISSNs: 1471-2431

Abstract

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.