|Year : 2022 | Volume
| Issue : 2 | Page : 97-99
Anesthetic considerations in a child with Rubinstein–Taybi syndrome
Ruchi Kumari, Arshi Agrawal, Anshul Goyal
Department of Anaesthesiology and Critical Care, Maulana Azad Medical College and Associated Lok Nayak Hospital, New Delhi, India
|Date of Submission||24-Sep-2022|
|Date of Acceptance||30-Oct-2022|
|Date of Web Publication||02-Dec-2022|
Dr. Ruchi Kumari
Department of Anaesthesiology and Critical Care, Maulana Azad Medical College and Associated Lok Nayak Hospital, New Delhi
Source of Support: None, Conflict of Interest: None
Rubinstein − Taybi Syndrome (RTS) is a rare genetic syndrome caused by a mutation in the cAMP response element binding protein gene or EP300 gene or as the result of microdeletion from short (p) arm of chromosome 16. The diagnosis of RTS is made primarily through physical appearance. It may be associated with the disorders of multiple organ systems. Anesthetic management might be challenging in RTS due to various factors. A thorough preoperative evaluation and careful preparation for difficult airways before anesthesia is mandatory for successful case management. Here, we report the case of a 9-year-old child with RTS posted for cystoscopy.
Keywords: Anaesthesia, considerations, Rubinstein − Taybi syndrome
|How to cite this article:|
Kumari R, Agrawal A, Goyal A. Anesthetic considerations in a child with Rubinstein–Taybi syndrome. J Ind Coll Anesth 2022;1:97-9
Rubinstein-Taybi syndrome (RTS) is a rare genetic syndrome caused by mutation in the CREB-binding protein gene or EP300 gene, or as the result of microdeletion of genetic material from the short (p) arm of chromosome 16. It is characterized by facial abnormalities, broad thumbs, big toes, and intellectual disability. The diagnosis of RTS is made primarily through the physical appearance such as down-slanted palpebral fissures, low hanging columella, broad nose bridge, high-arched palate, cusp-like structures on the front teeth, and large broad angulated thumbs and toes. It may be associated with the disorders of multiple organ systems: cardiovascular, respiratory, gastrointestinal, and genitourinary. Anesthetic management might be challenging in RTS due to various factors. Here, we present the case of a 9-year-old child posted for cystoscopy for bilateral undescended testes. The child was 120 cm in height and 25 kg in weight with a mild intellectual disability. On examination, he had a “beaked” nose, high-arched palate, Mallampatti score 3, angulated phalanges, and broad thumbs and toes [Figure 1], [Figure 2], [Figure 3], [Figure 4]. His chest X-ray and 2-D echocardiography did not show any abnormal findings. Laboratory investigations such as complete blood count and biochemical tests were within the normal limits. Written informed consent by parents was taken 1 day before the procedure. Preoperative fasting orders as per the American Society of Anesthesiologists guidelines and aspiration prophylaxis with tab pantoprazole 20 mg and metoclopramide 0.2 mg were advised.
The airway cart was prepared considering the potentially difficult airway. Size and weight-appropriate airways, ProSeal laryngeal mask airway (LMA), endotracheal tube, stylet, direct laryngoscope, and C-Mac video laryngoscope were kept ready. After taking him to the OT Table, standard ASA monitors were attached. General anesthesia was provided with injection propofol 30 mg, fentanyl 50 microgram, and after assessment of adequate mask ventilation, vecuronium 2.5 mg was administered intravenously. ProSeal LMA of size 2.5 was inserted and the lungs were ventilated with pressure-controlled ventilation. Anesthesia was maintained with O2, N2O, and isoflurane. The intraoperative period was uneventful. After the end of the procedure, muscle relaxant was antagonized with inj neostigmine and glycopyrrolate and the ProSeal LMA was removed. After the assessment of the signs of adequate reversal, the patient was sent to the recovery room, and the postoperative period was uneventful.
RTS is a rare genetic disorder with an incidence of 1:250,000–300,000. It poses challenges with regard to airway management due to craniofacial dysmorphism, laryngotracheal abnormalities, obstructive sleep apnea, gastroesophageal reflux, aspiration, intellectual disability (noncooperation), and risk of arrhythmia with use of succinylcholine. Because of the potential difficulty in intubation, ProSeal LMA, fiberoptic intubation, and Air-Q intubating laryngeal airway may be used. A careful airway examination is mandatory as RTS might be associated with choanal atresia, deviated nasal septum, postcricoid web, laryngomalacia, tracheoesophageal compression, and tracheal stenosis. Cervical hyperkyphosis (68%) and scoliosis (32%) further make positioning difficult during intubation. The presence of heart defects (24%–38%) such as atrial septal defect, ventricular septal defect, patent ductus arteriosus, coarctation of the aorta, pulmonary valve stenosis, bicuspid aorta, aortic valve stenosis, vascular rings, conduction abnormalities, and rarely, hypoplastic heart syndrome have been reported. The use of anticholinergic and anticholinesterase drugs may increase the risk of arrhythmia.
Succinylcholine should be avoided in view of atrial and ventricular ectopics. Nondepolarizing muscle relaxants have been used successfully though, a rare incidence of prolonged paralysis with atracurium has been reported.
To conclude, RTS is associated with multisystem anomalies therefore, a careful preoperative evaluation is mandatory. Good preparation for difficult airways before anesthesia is required. The risk of aspiration, chest infections, and arrhythmia should be kept in mind and a cautious selection of drugs is essential for successful anesthetic management.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient's parent has given his consent for the images and other clinical information to be reported in the journal. The parent understands that his son's name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]