Case report: severe asymptomatic hyponatremia in Prader-Willi Syndrome

• Published in: BMC pediatrics Vol. 16; no. 28; p. 28
• Main Authors: Landau, Daniel, Hirsch, Harry J, Gross-Tsur, Varda
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 18.02.2016; BioMed Central
• Subjects: ACTH; Age; Asymptomatic; Asymptomatic Diseases; Babies; Care and treatment; Case Report; Chromosomes; Complications and side effects; Glucose; Growth hormones; Health aspects; Humans; Hyponatremia; Hyponatremia - diagnosis; Hyponatremia - etiology; Hypothyroidism; Infant; Male; Oxygen saturation; Potassium; Prader-Willi syndrome; Prader-Willi Syndrome - complications; Prader-Willi Syndrome - diagnosis; Risk factors; Sodium; Thyroid gland; Urine
• ISSN: 1471-2431; 1471-2431
• DOI: 10.1186/s12887-016-0563-4

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. 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. 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.