Research Notes: Temperature Regulation in Prader-Willi Syndrome

Pediatr Int. 2005 Oct.
Characteristics of hyperthermia and its complications in patients with Prader Willi syndrome.
Ince E, Ciftci E, Tekin M, Kendirli T, Tutar E, Dalgic N, Oncel S, Dogru U.
Division of Pediatric Infectious Disease, Department of Pediatrics, Ankara Univeristy School of Medicine, Dikimevi, Ankara, Turkey.

Background: Thermoregulation problems, resulting in hypo- or hyperthermia, have been infrequently reported in children with Prader Willi syndrome (PWS), yet their clinical details remained unknown. Methods: The clinical characteristics of three infants with PWS are reported. Results: Etiologies of high fever could not be identified in three children with PWS. One of these children was also admitted to the intensive care unit with extremely high body temperature in a life-threatening condition, similar to septic shock, without a plausible explanation. Conclusion: Hyperthermia may be a part of the clinical spectrum in young infants with PWS and should be carefully monitored, since it may cause life-threatening complications.

Am J Med Genet A. 2004 Jan 15.
Unexpected death and critical illness in Prader-Willi syndrome: report of ten individuals.
Stevenson DA, Anaya TM, Clayton-Smith J, Hall BD, Van Allen MI, Zori RT, Zackai EH, Frank G, Clericuzio CL.
Department of Pediatrics, University of New Mexico, Albuquerque, New Mexico, USA.

Individuals with Prader-Willi syndrome (PWS) generally survive into adulthood. Common causes of death are obesity related cor pulmonale and respiratory failure. We report on a case series of eight children and two adults with unexpected death or critical illness. Our data show age-specific characteristics of PWS patients with fatal or life-threatening illnesses. Under the age of 2 years, childhood illnesses in general were associated with high fever and rapid demise or near-demise. Hypothalamic dysfunction likely plays a role in exaggerated fever response, but also perhaps in central regulation of adrenal function. Below average sized adrenal glands were found in three children, which raises the possibility of unrecognized adrenal insufficiency in a subset of individuals with PWS and emphasizes the vital role of autopsy. The tub drowning death of an adult patient could be related to central hypersomnia [or cataplexy?], which has been reported in PWS. We suggest that increased risk for critical illness be considered in the discussion of anticipatory guidance for the care of infants with PWS. Since a number of children died while hospitalized, particularly close observation of PWS children who are ill enough to warrant hospital admission is recommended.

Am J Med Genet. 1994 Feb 1.
Investigation of thermoregulatory characteristics in patients with Prader-Willi syndrome.
Williams MS, Rooney BL, Williams J, Josephson K, Pauli R.
Gundersen Clinic, LaCrosse, Wisconsin.

A survey instrument is used to assess temperature regulation characteristics in children with Prader-Willi syndrome (PWS) compared to 3 control groups: sibs of PWS patients (SIB), neurodevelopmentally handicapped children (ND), and age and gender matched well children (WC). Significant differences were found between PWS patients, SIB controls, and WC controls in the prevalence of febrile convulsions, fever-associated symptoms, and temperature less than 94 degrees F. No differences were noted in any variable between the PWS patients and the ND controls, suggesting that these abnormalities are not unique to PWS, but can occur in any neurodevelopmentally handicapped individual, further suggesting these do not necessarily reflect syndrome-specific hypothalamic abnormalities.