ISPUB.COM The Internet Journal of Anesthesiology Volume 14 Number 1 1 of 3 Anesthesia Management Of A Patient With Williams Syndrome S Sahin, A Colak, I Gunday Citation S Sahin, A Colak, I Gunday. Anesthesia Management Of A Patient With Williams Syndrome. The Internet Journal of Anesthesiology. 2006 Volume 14 Number 1. Abstract Williams syndrome is a genetic disorder characterized by developmental delay, unusual facial appearance, narrowing of the aorta (large artery that leaves the heart) and particular cognitive and personality profiles. Chronic abdominal pain is a common complaint of children and adults with Williams syndrome; possible causes include hiatal hernia, peptic ulcer disease, cholelithiasis, diverticulitis, ischemic bowel disease, chronic constipation, and somatization of anxiety. A 5-month-old male infant, weighing 4.7 kg with Williams syndrome was scheduled for inguinal hernia repair under general anesthesia. The diagnosis of Williams syndrome was made at 4 months of age. Intraoperative and postoperative course was uneventful. We think that general anaesthesia can be performed succesfully with hemodynamic stable INTRODUCTION Williams syndrome (WS) is an uncommon genetic syndrome due to a deletion of several genes on chromosome 7 that includes the elastin gene. The syndrome is associated with dysmorphic facies, neurological manifestations, idiopathic hypercalcemia, and cardiac abnormalities, particularly supravalvular aortic stenosis (SVAS) ( 1 ). Williams syndrome was first described by Williams, Barratt- Boyes, and Lowe in 1961 ( 2 ). The problem is usually caused by a random mutation, so parents may not have any family history of the condition. However, a person with Williams syndrome has a 50% chance of passing the disorder on to each child. It occurs in about 1 in 20,000 births ( 3 ). This is a report of a pediatric patient with Williams syndrome presenting for inguinal hernia repair under general anesthesia. CASE REPORT A 5-month-old male infant, weighing 4.7 kg with Williams syndrome was scheduled for inguinal hernia repair under general anesthesia. The diagnosis of Williams syndrome was made at 4 months of age. Williams syndrome presented to cardiology clinic for evaluation of a systolic murmur. Evaluation by echocardiography in the cardiology clinic revealed mild supravalvular aortic stenosis with pulmonary artery stenosis. Preoperative evaluation revealed a small 5- month-old infant in no acute distress.. No cardiovascular, respiratory, digestive and renal systems abnormalities were detected. His vital signs were stable. Preoperative laboratory evaluation including electrolytes, blood urea nitrogen, creatinine, calcium, and thyroid function tests were within normal limits. The hemoglobin was 12 g.dl-1. On the operation day the patient was accepted to the operating room. He was monitored with peripheral oxygen saturation (SpO2), electrocardiogram (leads II, V1), cutaneous temperature (T), noninvasive blood pressure (NIBP), and endtidal carbon dioxide. Heat rate: 127 min-1, blood pressure: 89/35 mmHg, body temperature 37.0 ºC. Induction of anesthesia was done with sevoflurane and mixture 50% of O2/N2O, initiated sevoflurane with 1% until 8%. After completed induction and venous puncture was performed with a 26 G catheter in the left upper limb, and the trachea was intubated without difficulty with a 4.0 mm ID uncuffed tube. Maintenance was achieved using sevoflurane 1 MAC in a 2: 1 nitrous oxide : oxygen mixture and intravenous fentanyl 1,5 mcg.kg -1 .h -1 . Hemodynamic and other vital parameters were stable during intraoperative period. The duration of the surgery was 40 minutes. After recovery of muscle tone, spontaneous breathing was adequate, trachea was extubated. No respiratory or hemodynamic problems were occurred. The patient was admitted to recovery room with stable vital signs (blood pressure: 88/39 mmHg, heart rate 126 beats.min-1, peripheral oxygen saturation 99%, body temperature 37.0 ºC). Thirty minutes later he was sent to service with stable vital signs.