Anaesthesia for a Patient with Rubinstein Taybi Syndrome (original) (raw)
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Anaesthetic Management of Children with Rubinstein-Taybi Syndrome
A limited number of cases of anesthetic management of Rubinstein-Taybi Syndrome (RTS) have been reported since this syndrome was first diagnosed in 1963. After some well-publicized complications following anesthesia for patients with RTS, there has been great interest in avoiding all precipitant factors and careful monitoring during intraoperative and postoperative periods. This case series examines the cases of three pediatric patients with RTS who presented to the Children's Hospital of Michigan for different surgeries. We aim in this study to share information about this rare syndrome and to emphasize how this case series allowed us to improve our anesthetic management. In each case, we adjusted our techniques using information from preceding cases to avoid complications in the following encounter.
Anesthetic management of children with Rubinstein-Taybi syndrome--case reports
Middle East journal of anaesthesiology, 2011
A limited number of cases of anesthetic management of Rubinstein-Taybi Syndrome (RTS) have been reported since this syndrome was first diagnosed in 1963. After some well-publicized complications following anesthesia for patients with RTS, there has been great interest in avoiding all precipitant factors and careful monitoring during intraoperative and postoperative periods. This case series examines the cases of three pediatric patients with RTS who presented to the Children's Hospital of Michigan for different surgeries. We aim in this study to share information about this rare syndrome and to emphasize how this case series allowed us to improve our anesthetic management. In each case, we adjusted our techniques using information from preceding cases to avoid complications in the following encounter.
Anaesthesia and Rubinstein-Taybi syndrome
Southern African Journal of Anaesthesia and Analgesia, 2005
Case 1: An 11 month old boy was admitted for probing and syringing of the lacrimal ducts. He had presented with history of recurrent infections of the right eye and a mucocoele of right lacrimal sac. On examination, the patient was noted to have micrognathia, heavy eyebrows, blepharophimosis, an epicanthus, broad thumbs and clinodactyly. There was no obvious micrognathia or microstomia but he was noted to have a high arched palate. His milestones were delayed -he was not yet crawling or walking. Dentition was also delayed -he had no deciduous teeth. Clinical evaluation of the cardiovascular and respiratory systems and of the abdomen was unremarkable. Anaesthesia was induced with nitrous oxide, oxygen and halothane, and was maintained with nitrous oxide, oxygen and isoflurane. At laryngoscopy, a very high arched palate was confirmed and only the epiglottis was visible. Intubation was achieved with some difficulty using posterior displacement of the larynx and a Miller size 0 laryngoscope blade. There was no evidence of laryngomalacia although this was difficult to assess. Lacrimal duct stenosis was confirmed and probe dilated. Intraoperatively the child remained haemodynamically stable and recovery from anaesthesia was uneventful. Case 2: A 14month old boy with features of Rubinstein-Taybi syndrome (Fig ) presented with recurrent chest infections. His milestones were delayed; he was somewhat hypotonic and had a strabismus involving the left eye. .A series of investigations including a milk scan, and pH studies revealed significant oesophageal reflux. Following a further course of antibiotics and physiotherapy, he was presented for a Nissen fundoplication anti-reflux procedure. The open surgical procedure was performed under a combined general anaesthetic with halothane and a thoracic epidural (T10-11), without muscle relaxants. Laryngoscopy was made difficult by the high arched palate and relative micrognathia. The larynx was normal. Recovery from anaesthesia was unremarkable. Postoperative analgesia was provided by continuous epidural infusion which was terminated after 48 hours.
Dental Extraction Under Deep Sedation in a Patient with Rubinstein-Taybi Syndrome: Case Report
The Annals of Eurasian Medicine, 2013
Rubinstein-Taybi Sendromu (RTS), 16. kromozomda heterojen mutasyona bağlı gelişen genetik bir bozukluktur. Bir çok konjenital anomalinin bulunduğu bu sendrom mental retardasyon, kraniyofasiyal deformiteler ve parmak anomalileri ile karakterizedir. Bu sendroma sahip çoçuklarda diş problemleri nedeniyle genel anestezi veya sedasyon altında girişim gerekebilir. Ondört yaşında RTS tanısı olan ve dental tedavi amacıyla Gazi Üniversitesi Tıp Fakültesi Diş Hekimliği Fakültesine başvuran erkek çocukta yapılan ilk değerlendirmede mikrosefali, retrognati, geniş el başparmağı ve kooperasyon kısıtlılığı saptandı. Mallampati skoru II olarak değerlendirildi. İntravenöz kanulasyon ve standart monitörizasyonu takiben, nazal maske ile spontan solunumu koruyacak şekilde O2/N2O (%50/50) uygulanmaya başlandı ve gerekli sedasyon düzeyine ulaşmak amacıyla ketamin ve midazolam verildi. Her ne kadar olgumuzda derin sedasyon uygulaması herhangi bir komplikasyon gelişmeksizin uygulanmış olsa da, zor havayolu olasılığı göz önüne alınarak algoritmalarda yer alan tüm önerilerin uyulması gerektiğini düşünmekteyiz.
Rubinstein-Taybi syndrome medical guidelines
American Journal of Medical Genetics, 2003
Children and adults with Rubinstein-Taybi Syndrome have specific medical conditions that occur with greater frequency than the general population. Based on the available information from the literature and clinical experience, recommendations for specific surveillance and interventions are made to guide those clinicians caring for individuals with Rubinstein-Taybi Syndrome. This is a first attempt at medical guidelines for individuals with RTS in the United States. Ongoing research is needed in many areas to guide decisions in medical care and allow for refinement of these medical guidelines.
Research Review Rubinstein-Taybi Syndrome Medical Guidelines
2003
Children and adults with Rubinstein-Taybi Syndrome have specific medical conditions that occur with greater frequency than the general population. Based on the available information from the literature and clinical experience, recommendations for specific surveillance and interventions are made to guide those clinicians caring for individuals with Rubinstein-Taybi Syndrome. This is a first attempt at medical guidelines for individuals with RTS in the United States. Ongoing research is needed in many areas to guide decisions in medical care and allow for refinement of these medical guidelines.
Rubinstein-Taybi Sendromu (RTS), 16. kromozomda heterojen mutasyona bağlı gelişen genetik bir bozukluktur. Bir çok konjenital anomalinin bulunduğu bu sendrom mental retardasyon, kraniyofasiyal deformiteler ve parmak anomalileri ile karakterizedir. Bu sendroma sahip çoçuklarda diş problemleri nedeniyle genel anestezi veya sedasyon altında girişim gerekebilir. Ondört yaşında RTS tanısı olan ve dental tedavi amacıyla Gazi Üniversitesi Tıp Fakültesi Diş Hekimliği Fakültesine başvuran erkek çocukta yapılan ilk değerlendirmede mikrosefali, retrognati, geniş el başparmağı ve kooperasyon kısıtlılığı saptandı. Mallampati skoru II olarak değerlendirildi. İntravenöz kanulasyon ve standart monitörizasyonu takiben, nazal maske ile spontan solunumu koruyacak şekilde O2/N2O (%50/50) uygulanmaya başlandı ve gerekli sedasyon düzeyine ulaşmak amacıyla ketamin ve midazolam verildi. Her ne kadar olgumuzda derin sedasyon uygulaması herhangi bir komplikasyon gelişmeksizin uygulanmış olsa da, zor havayolu olasılığı göz önüne alınarak algoritmalarda yer alan tüm önerilerin uyulması gerektiğini düşünmekteyiz.
Rubinstein‐Taybi syndrome in the Netherlands
American Journal of …, 1990
This study reports the physical and radiographic characteristics of 45 patients with Rubinstein-Taybi syndrome living in The Netherlands. All had broad halluces, but only 39 patients had broad thumbs. Microcephaly was present in 35% of patients. In addition to the well-known characteristics, persistent fetal pads, a shawl scrotum, and a high frequency of fractures were found in several patients. Morbidity was mainly determined by the mental handicap, constipation, and recurrent upper respiratory infections, probably due to abnormal anatomy in the craniofacial region. Easy collapsible laryngeal walls may cause problems in sleep and anaesthesia.
Rubinstein-Taybi syndrome: A natural history study
American Journal of Medical Genetics, 2005
In order to examine several aspects related to the natural history of the Rubinstein-Taybi syndrome, we performed a questionnaire study of 50 patients who had been diagnosed with the condition. The cases were ascertained through a national parent support group and all of the individuals had been reared at home. The most frequent problems encountered were inadequate weight gain in infancy, eye problems, dental abnormalities, congenital heart defects, urinary tract problems, and severe constipation. These medical disorders and others resulted in approximately 10 times the average number of hospitalizations and surgeries as the general population of children.