Anesthesiological Management of a Patient with Williams Syndrome Undergoing Spine Surgery

Hindawi Publishing Corporation Case Reports in Anesthesiology Volume 2016, Article ID 1371095, 4 pages http://dx.doi.org/10.1155/2016/1371095 Case Report Anesthesiological Management of a Patient with Williams Syndrome Undergoing Spine Surgery Federico Boncagni,1 Luca Pecora,2 Vasco Durazzi,3 and Francesco Ventrella4 1 Clinica di Rianimazione Generale, Respiratoria e del Trauma Maggiore, Azienda Ospedaliero-Universitaria “Ospedali Riuniti Umberto I-G. M. Lancisi-G. Salesi”, 60126 Ancona, Italy 2 Anestesia e Rianimazione dei Trapianti e della Chirurgia Maggiore, Azienda Ospedaliero-Universitaria “Ospedali Riuniti Umberto I-G. M. Lancisi-G. Salesi”, 60126 Ancona, Italy 3 Clinica di Neurologia, Azienda Ospedaliero-Universitaria “Ospedali Riuniti Umberto I-G. M. Lancisi-G. Salesi”, 60126 Ancona, Italy 4 Anestesia e Rianimazione Pediatrica, Azienda Ospedaliero-Universitaria “Ospedali Riuniti Umberto I-G. M. Lancisi-G. Salesi”, 60126 Ancona, Italy Correspondence should be addressed to Federico Boncagni; Received 16 December 2015; Accepted 1 March 2016 Academic Editor: Maria Jose C. Carmona Copyright © 2016 Federico Boncagni et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Williams Syndrome (WS) is a complex neurodevelopmental disorder associated with a mutation on chromosome 7. Patients with WS usually display dysmorphic facial and musculoskeletal features, congenital heart diseases, metabolic disturbances and cognitive impairment. Structural cardiovascular abnormalities are present in the majority of the children and may provide a substrate for perioperative Sudden Cardiac Death, as presented by several reports, something that creates a great challenge to the anesthetic conduct. We present the case of a 12-year old girl who required anesthetic care for surgical correction of an acquired kyphoscoliosis. Potential anesthesiological implications of WS are subsequently reviewed. 1. Introduction Williams-Beuren Syndrome (WBS) is a genetic autosomal dominant disorder associated with de novo deletion in the long arm of chromosome 7 (7q11.23), occurring 1 : 10.000 live births [1–3]. Patients with WBS show mild to moderate mental retardation and musculoskeletal and craniofacial abnormalities, such as hypertelorism, flat nasal bridge, long philtrum, and wide mouth with a hypoplastic or short mandible [1, 3]. Considering the association with congenital heart defects, Supravalvular Aortic Stenosis (SVAS) and Pulmonary Artery Stenosis (PAS) are reported in up to 80% of pediatric patients [2], clinical conditions that create enormous difficulty in the anesthetic approach, something that can be translated by the high probability of refractory intraoperative cardiac arrest [4–8]. Given to the multiorgan involvement of the syndrome and to the anecdotal nature of case descriptions, anesthesiological management of affected patients is often challenging and it implies special considerations to cardiovascular, metabolic, and technical aspects of anesthesia delivering. In this case report, we describe the anesthetic management of a 12-year-old girl undergoing anesthesia for surgical correction of an acquired kyphoscoliosis and we subsequently discuss perioperative implications of WBS. Written informed consent from patient’s relatives was obtained before case report publication and it is available on editors’ request. 2. Case Presentation A 12-year-old girl with WBS was referred to our centre for definitive correction of a developmental, thoracic kyphoscoliosis. She already underwent the provisional placement of a posterior extensible distractor three years ago. The diagnosis of WBS, based on stellata iris pattern of the eyes, umbilical hernia, interatrial septal defect, and failure to thrive, was presumed at 7 months by her paediatrician and further 2 Case Reports in Anesthesiology (a) (b) Figure 1: Anteroposterior (a) and lateral (b) chest X-ray showing patient’s pronounced spinal curvature and dorsal hump. A provisional extensible distractor is in place. confirmed by genetic analysis (FISH hybridization) which showed the typical hemizygosity at 7q11.23. During the follow-up, a spontaneous closure of cardiac septal defect, hypercalcemia, controlled by dietary interventions, repeated episodes of fever of unknown origin by one year, and occurrence of Schönlein-Henoch purpura by two months, both, before admission to surgery were found. Physical examination showed the characteristic appearance of WBS patients with broad forehead, flat nasal bridge, wide mouth with a prominent lower lip, dental malocclusion, and a short mandible. Spinal curvature was more than 80∘ in the coronal plane with an associated dorsal hump (Figure 1). She weighed 35 Kg and her vital signs were within the limits, with blood pressure (BP) of 130/90 mmHg. Baseline ECG showed sinus rhythm at 88 beats/min with a normal QRS and no ST-T alterations. Cardiopulmonary physical examination only showed slight 2/6 systodiastolic murmur at the precordium. Preoperative laboratory exams included TSH, thyroid hormones, and calcium, which were within normal range. A transthoracic echocardiogram, performed to rule out previously unrecognized cardiac abnormalities, showed a nonsignificant interventricular septal defect, absence of SVAS, or interatrial septal defect. Color-Doppler examination of supra-aortic trunks showed no thickening of the carotids. Given that the patient was asymptomatic under the cardiovascular point of view and doing well with everyday activities, we chose not to perform a coronary angiography. A 4.5-French central venous catheter was placed in the right internal jugular vein under light sedation and local anesthesia, in the day before the surgical procedure. The child was kept quiet for eight hours and transported to the operating room the day of the surgery. Atropine 0.4 mg was given intravenously soon before anesthesia induction with fentanyl 100 mcg and propofol 120 mg. No neuromuscular blocking agent was used. Prior to intubation, the glottis was irrigated under direct laryngoscopy with 10 mL of 2% lidocaine via a Optispray syringe, revealing grade I Cormack-Lehane visualization of vocal cords. Tracheal intubation was achieved at first attempt after local anesthesia with a 6.5 mm ID cuffed tube. After intubation, left radial artery was cannulated and a urinary catheter was placed. Finally, the patient was prone positioned. The maintenance of the anesthesia consisted of 2% sevoflurane in O2 /air mixture and remifentanil continuous infusion. Intraoperative monitoring included pulse oximetry, continuous ECG tracing, invasive blood pressure, and hemodynamic monitoring via a FloTrac/Vigileo device, end tidal carbon dioxide, and bladder temperature. Neurophysiological monitoring was provided by continuous EEG and somatosensory evoked p (...truncated)