RESEARCH LETTER Accidental hypothermia in an infant with Prader-Willi syndrome Received: 20 March 2003 / Accepted: 6 May 2003 / Published online: 11 June 2003 Ó Springer-Verlag 2003 A 5-month-old infant with Prader-Willi syndrome suf- fered from profound accidental hypothermia. Many clinical manifestations exhibited by patients with Prader-Willi syndrome (PWS) (MIM 176270) ap- pear to be caused by a centrally mediated dysfunction of the autonomic nervous system including excessive sleepiness, faulty satiety, impaired vomiting reflex, high pain threshold, and temperature instability in infancy [3,4]. Although temperature instability is a well-known clinical complication of PWS [4,6], profound accidental hypothermia has never been reported. This report de- scribes an infant with PWS syndrome who suffered from profound accidental hypothermia. On January 31, 2003, a 5-month-old infant was brought to another hospital because he was pale and cold. The patient had been diagnosed with PWS at 1 month of age due to his clinical features and karyotype (del 15q11-q13). The patient has been well until the day before admission. On the morning of admission, his mother found him pale and cold in his cot with usual clothing and sought medical attention. The outdoor temperature at 6:00 a.m. on the morning was –2.3°C. On arrival, the patient was comatose, cyanotic, pale and cold with apnoea. His rectal temperature was less than 30.0°C, and heart rate was 46 beats/min but his pulse was non-palpable. He underwent cardiopulmonary resusci- tation and received continuous intravenous infusions of fluid and dopamine before transfer to our hospital. On admission, the patient was still comatose, pale, and cold. His rectal temperature was 29.8°C, heart rate was 128 beats/min, and blood pressure was 64/30 mm Hg. Laboratory studies revealed respiratory acidosis (pH 7.190, Pco 2 76.4 mm Hg, Po 2 256 mm Hg, HCO 3 28.5 mEq/l) and hyperglycaemia (602 mg/dl). The crea- tine kinase and lactic dehydrogenase levels were elevated at 815 IU/l and 691 IU/l, respectively. Complete blood cell counts, C-reactive protein, electrolytes, and renal function tests were within normal ranges. A chest X-ray film revealed no abnormal findings. The patient was diagnosed as having accidental hypothermia, and underwent rewarming using a radiant warmer, mechanical ventilation, and infusion of fluid and dopa- mine. Four hours after rewarming, since the patient’s blood pressure had risen along with the body tempera- ture, we stopped dopamine infusion. Two hours later, the patient developed hypoglycaemia (28 mg/dl), which required a bolus intravenous infusion of 20% glucose and a continuous intravenous infusion of 10% glucose. The patient was extubated on the 2nd admission day because he was conscious, breathing normally, and al- most fully recovered. The patient was discharged on the 7th hospital day without any sequelae. He was still well 2 months after discharge. Temperature instability in PWS is well-known com- plication [4,6]. Wise et al. [6] suggested that defects in temperature regulation might be a manifestation of hypothalamic dysfunction in PWS. On the other hand, other reports showed that abnormal temperature regu- lation in PWS was a not common finding [1] or was not unique to PWS [5]. Our patient had profound accidental hypothermia in his bedroom. While infants are prone to losing heat [2], it is unlikely that healthy infants will develop profound hypothermia in their cots. We suggest that a primary disturbance in parasympathetic auto- nomic regulation existing in PWS [3] induced unusual profound accidental hypothermia in our patient. References 1. Cassidy SB, Mckillop JA (1991) Temperature regulation in Prader-Willi syndrome. Am J Med Genet 41: 528 2. Corneli HM (1992) Accidental hypothermia. J Pediatr 120: 671– 679 Eur J Pediatr (2003) 162: 550–551 DOI 10.1007/s00431-003-1261-4 Toru Watanabe Æ Haruko Iwabuchi Æ Masanori Oishi T. Watanabe (&) Æ H. Iwabuchi Department of Paediatrics, Niigata City General Hospital, 2-6-1 Shichikuyama, 950-8739, Niigata, Japan E-mail: twata@hosp.niigata.niigata.jp Tel.: +81-25-2415151 Fax: +81-25-2483507 M. Oishi Neonatal Intensive Care Unit, Niigata City General Hospital, Niigata, Japan