*Corresponding author email: michele.molinari@cdha.nshealth.ca Symbiosis Group Symbiosis www.symbiosisonline.org www.symbiosisonlinepublishing.com Nager Syndrome Does Not Preclude Organ Donation Subhashini Ayloo 1 , Jordan Nantais 1 , Sertac Cimen 1,2 , Sanem Guler 1 and Michele Molinari 1 * 1 Department of Surgery, Dalhousie University, Nova Scotia, Canada 2 Department of Public Health, Dalhousie University, Nova Scotia, Canada SOJ Surgery Open Access Case Report Background Nager Syndrome is characterized by craniofacial and upper limb anomalies. The majority of patients are affected by sporadic disease. Yet, familial cases have been reported where patients are affected by mutations in SF3B4 gene or express 3p14 common fragile site. Aberrations in the first, second branchial arches and limb buds are responsible for the phenotypic presentations [1,2]. The diagnostic features of NS can be categorized into craniofacial, limb and skeletal anomalies that give these patients an atypical appearance. Hallmark of the facial findings are: down slanting palpebral fissures, malar and mandibular hypoplasia, high nasal bridge, micrognathia, external ear anomalies, and cleft palate. Upper limb deformities include thumb anomalies, radial defect and radioulnar synostosis and axial skeletal anomalies with short stature [3]. In addition, other features that have been less often identified in NS are internal organ anomalies associated with cardiovascular, gastrointestinal, genitourinary and central nervous systems [4]. To our knowledge, no previous reports of patients with Nager Syndrome (NS) and solid organ donation have been described in the literature. Case Presentation A 26-year-old woman presented to the local emergency department for severe headache and decreased consciousness. Reviewing her history, she was diagnosed with NS (fragile chromosome 3) at childhood. Her mental development was to the level of an adolescent (12 or 13 year old) and able to care for herself and attend school. No other members of her family carried similar diagnosis. On physical exam she had an atypical appearance. Her height, weight and body mass index were 135 cm, 34 kg and 18.7 respectively, with high nasal bridge, micrognathia, loss of neck contour and internal rotation of forearms. There were no other significant external physical findings on cardiac, lung or abdominal exam. Computer Tomography of her brain showed three cerebral arterial aneurysms that were clipped but the patient continued to deteriorate and she was eventually declared brain dead. Her family consented for multi-organ donation. Investigations Prior to her donation, chest radiogram, serum renal function tests, transaminases, total bilirubin, coagulation profile, arterial blood gas and glucose levels were all within the normal limits. Several transplant centers were contacted and the patient was considered for donation of her lungs, liver, kidneys and pancreas. The heart was declined for unknown reasons. Differential Diagnosis Differential diagnosis of NS includes Treacher Collins Syndrome (TCS) which is characterized by anomalies of craniofacial development without preaxial limb malformations, Miller syndrome, and Richieri-Costa-Pereira syndrome [5]. Other mandibulofacial dysostoses such as type Toriello, type Hedera- Toriello-Petty, type Bauru and type Verloes share similarities with NS in terms of facial and thumb anomalies [6]. Treatment Recovery of her organs included liver, bilateral kidneys, pancreas and lungs. There were no internal deviations in anatomy with the exception of three renal arteries to the right kidney. The organs were appropriate size for her body mass. They were perfused, procured in standard protocol and offered to three different transplant centers. The pancreas was allocated for islets cell transplantation but it did not reach the standards required for successful transplantation as the number of viable islets was insufficient. The lungs were transplanted in another institution. The recipient of the lung transplant did well initially but she developed early rejection and serious respiratory infections in the first two weeks post transplantation. Information on the long-term outcome of the lung transplant recipient was declined by the transplant physicians at the other centre. The recipient of the liver and kidney grafts underwent standard transplant surgeries without any intra or perioperative complications. Immunosuppression for the liver transplant recipients included induction with solumedrol and Basiliximab with postoperative quick tapering of prednisone and maintenance on tacrolimus and Mycophenolate Mofetil (MMF). The renal transplant patients were induced with solumedrol and Anti-Thymoglobulin (ATG), postoperatively were given quick taper of prednisone, two doses of ATG and maintained on tacrolimus and MMF. Outcome and Follow-Up The liver was transplanted in a 60-year old man with alcoholic cirrhosis conditioning encephalopathy, esophageal varices, ascites and with a Model for End Stage Liver Disease Received: August 09, 2014; Accepted: September 08, 2014; Published: September 22, 2014 *Corresponding author: Michele Molinari, Department of Surgery, Dalhousie University, 1276 South Park Street,Halifax, Nova Scotia, Canada, Tel : 1-902-473-7624; Fax : 1-902-473-7639; E-mail: michele.molinari@cdha.nshealth.ca