|Year : 2021 | Volume
| Issue : 3 | Page : 191-195
Anaesthetic and perioperative implications of Rubinstein-Taybi syndrome: A case report and review of literature
Amrita Rath1, Reena1, Shibin Jose2, Ranjeet Kumar1, Ashutosh Vikram3
1 Department of Anaesthesiology, Institute of Medical Sciences, BHU, Varanasi, Uttar Pradesh, India
2 Department of Paediatric and Neonatal Anaesthesiology, Institute of Medical Sciences, BHU, Varanasi, Uttar Pradesh, India
3 Department of Orthopaedics, Narayan Medical College and Hospital, Sasaram, Bihar, India
|Date of Submission||22-Jun-2021|
|Date of Acceptance||16-Jul-2021|
|Date of Web Publication||26-Aug-2021|
Institute of Medical Sciences, BHU, Varanasi - 221 005, Uttar Pradesh
Source of Support: None, Conflict of Interest: None
Rubinstein-Taybi syndrome is a rare genetic disease with multisystem involvement and significant anaesthetic implications. We describe the perioperative anaesthetic management of a 2-year-old child posted for bilateral orchidopexy and left-sided herniotomy.
Keywords: Broad thumb and hallux syndrome, cyclic AMP-regulated enhancer-binding protein gene, paediatric anaesthesia, Rubinstein-Taybi syndrome
|How to cite this article:|
Rath A, Reena, Jose S, Kumar R, Vikram A. Anaesthetic and perioperative implications of Rubinstein-Taybi syndrome: A case report and review of literature. Airway 2021;4:191-5
|How to cite this URL:|
Rath A, Reena, Jose S, Kumar R, Vikram A. Anaesthetic and perioperative implications of Rubinstein-Taybi syndrome: A case report and review of literature. Airway [serial online] 2021 [cited 2022 Aug 11];4:191-5. Available from: https://www.arwy.org/text.asp?2021/4/3/191/324657
| Introduction|| |
Rubinstein-Taybi syndrome (RTS), also known as 'broad thumb and hallux syndrome', is a rare congenital autosomal dominant syndrome, with an incidence of 1 in 100,000–125,000 live births. It is associated with microdeletion of chromosome 16p13.3, which encodes for cyclic AMP-regulated enhancer-binding protein gene., This gene plays a critical role in cell growth and differentiation during foetal development. The syndrome was first described by Jack Herbert Rubinstein and Hooshang Taybi in 1963 in seven children consisting primarily of high-arched palate, broad thumbs, broad great toes, peculiar facies and mental retardation., Involvement of multiple organ systems such as the cardiovascular, respiratory, gastrointestinal and urogenital systems is evident.
Rarity of the syndrome can be understood by the fact that its anaesthetic implications have been discussed in very few case reports, including probably only two from India., Our case adds to the literature with anaesthetic implications of perioperative management of a child with RTS undergoing bilateral orchidopexy and left-sided herniotomy under general anaesthesia. Written informed consent was obtained from the patient's family for publication while protecting identity.
| Case Report|| |
A 2-year-old male child weighing 11 kg was posted for bilateral orchidopexy and left-sided herniotomy secondary to bilateral undescended testis and left-sided hernia. The child was a known case of RTS detected on the basis of clinical and genomic testing (microdeletion of chromosome 16p13.3) when he was 6 months old. The parents reported to the medical facility because of abnormal facies, poor sucking and delayed developmental milestones. When the child presented to us, clinical examination revealed abnormal facial features such as prominent nasal tip, flat occiput, antimongoloid slant, bushy eyebrows and long eyelashes, micrognathia, microcephaly, hypertelorism and hypoplastic maxilla [Figure 1]. The baby had a history of snoring while sleeping in the supine position, suggestive of obstructive sleep apnoea (OSA). Airway examination was difficult to perform because of lack of cooperation. The baby had broad thumbs, padded fingers and toes with difficult venous access [Figure 2]. Radiograph of both feet showed two proximal first phalanges bilaterally causing the characteristic 'broad hallux' appearance [Figure 3]. There was decreased power (Grade 4 of 5) in all limbs with diminished deep tendon reflexes (Grade 2). The muscle tone was normal. The baby had Grade 1 mental retardation but no history of any focal or generalised seizures. Complete haemogram and renal/liver function tests were normal. The electrocardiogram did not reveal any conduction abnormality and was reported normal.
|Figure 3: Broad hallux with radiograph of both feet showing double proximal phalanges bilaterally|
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On the day before surgery, we obtained informed written consent from the parents after explaining the risk of anaesthesia. After adequate preparation of the operation theatre including keeping a difficult airway cart ready, we planned general anaesthesia with controlled ventilation with an i-gel as our plan A for airway management. As the baby was sleeping on his mother's lap on the day of surgery, we carefully shifted him to the operation theatre without disturbing his sleep. We induced the child with sevoflurane in 100% oxygen using a Jackson-Rees modification of Ayre's T-piece and attached monitors such as electrocardiogram, noninvasive blood pressure, pulse oximetry and neuromuscular transmission while anaesthesia was deepened with increasing concentration of sevoflurane up to 8%. A 22 SWG cannula was secured with the aid of vein finder on the dorsum of the left hand and free flow was ensured. Injection fentanyl 2 μg/kg and midazolam 0.05 mg/kg were administered. When adequate plane of anaesthesia was achieved, an i-gel # 1.5 was inserted. Adequacy of ventilation and proper seating of the i-gel was verified. Intravenous cisatracurium 0.15 mg/kg was given, and the patient was placed on controlled ventilation. We preferred controlled ventilation as we wanted to avoid respiratory muscle fatigue and consequent carbon dioxide retention. Analgesia was supplemented with ultrasound-guided caudal block using 0.5 mL/kg of 0.25% bupivacaine. The plane of anaesthesia was maintained with an air:oxygen mixture and sevoflurane titrated to achieve a minimum alveolar concentration of 2. Measures were taken to minimise heat loss. Intraoperatively, temperature and urine output were measured. Surgery lasted for nearly 80 min with minimal blood loss and haemodynamics remained stable throughout surgery. Intravenous ondansetron was given 15 min before the end of surgery as also intravenous paracetamol 15 mg/kg. When the surgery was completed, inhalation agents were discontinued and under monitoring of neuromuscular transmission, residual neuromuscular blockade was antagonised with small incremental doses of neostigmine (0.05 mg/kg) and glycopyrrolate (0.01 mg/kg) until adequate spontaneous ventilation was established. The i-gel was removed when the baby started moving the limbs. The child was observed for some time in the operating room and respiration assisted when needed before shifting to a high dependency unit where he was monitored for 24 h in view of OSA. The postoperative period remained uneventful, and the baby was discharged the next day.
| Discussion|| |
Although the syndrome was named RTS in 1963, the first description of its features can be found in French literature in 1957. The most probable cause is believed to be autosomal dominant mutation. However, up to 18 different chromosomal anomalies have been identified in some patients with this syndrome. Anaesthesiologists may face a multitude of problems in this disease due to involvement of several systems to varying degrees. We present below a brief description of systemic involvement and their anaesthetic implications.
These children are at an increased risk of perioperative aspiration due to copious mucus secretions and associated gastroesophageal reflux disease, which begins in the 1st year of life resulting in poor nutrition and stunted growth., Bag mask ventilation may be difficult due to craniofacial abnormalities such as micrognathia, retrognathia, broad nasal bridge and macroglossia, resulting in poor mask seal. Congenital tracheal stenosis, tracheomalacia and abnormal pulmonary lobation have been described that may cause poor perioperative ventilation. Craniofacial involvement in the form of micrognathia, retrognathia, broad nasal bridge, beak-shaped nose, narrow high-arched palate, hypoplastic maxilla, small mouth opening and bucked upper incisors contribute to difficult laryngoscopy and intubation.
Choanal atresia, deviated nasal septum, lower airway narrowing, post-cricoid web, laryngomalacia and tracheoesophageal compressions have been associated and can cause severe airway obstruction under anaesthesia if not identified during preoperative assessment. OSA should be carefully sought as this is very commonly seen due to peculiar facial characteristics.
Recurrent infections due to frequent microaspiration and gastroesophageal reflux disease make these children more prone to pneumonia, laryngospasm, bronchospasm or chronic lung disease. These factors contribute to morbidity and mortality in the first years of life.
Choice of airway management device has been greatly debated in view of the risk of aspiration, the potential of difficult airway and the risk to develop perioperative airway obstruction. First-generation supraglottic airway devices (SADs) are better avoided in these patients due to greater risk of aspiration. Second-generation SADs such as the ProSeal laryngeal mask airway have been advocated for shorter surgeries. We used an i-gel, a useful second-generation SAD, not only because it was a short duration surgery but also because we did not want to stimulate the airway as such patients are prone to develop respiratory complications during endotracheal intubation and extubation. Further, SADs can be easily placed in paediatric patients once adequate depth is achieved under inhalational anaesthesia, after which a muscle relaxant can be given if ventilation can be assisted. We kept the difficult airway cart including rigid bronchoscope ready for an emergency.
Approximately, one-third patients present with cardiac defects. Most frequently seen are atrial septal defect, ventricular septal defect, patent ductus arteriosus, coarctation of the aorta, pulmonary valve stenosis, bicuspid aortic valve, aortic valve stenosis, vascular rings and conduction abnormalities. Supraventricular tachycardia and multifocal premature atrial/ventricular contractions have been reported, especially after perioperative medications such as succinylcholine, atropine and neostigmine., We avoided succinylcholine for the same reason and later administered neostigmine and glycopyrrolate in small aliquots to minimise side effects.
Broad thumbs and halluces, polydactyly, syndactyly and short height (male 153 cm, female 147 cm) are commonly seen in RTS patients. Other relevant skeletal abnormalities include spina bifida occulta, pectus excavatum, scoliosis and cervical kyphosis. Cervical spinal deformity may make positioning during airway management difficult, while associated spina bifida precludes the use of central neuraxial blockade.
Neuromuscular monitoring may be difficult in older individuals with broad thumb, where facial nerve stimulation and orbicularis oculi can be used instead. However, since our patient was a child, we could apply the neuromuscular transmission monitor over his thumb even though it was broad.
Moderate-to-severe mental retardation is seen (interquartile range 25–79, mean 36–51). Speech is delayed and delayed motor milestones may occur due to hypotonia. Neuromuscular blockers (NMBs) are better avoided in the presence of hypotonia due to the possibility of precipitating malignant hyperthermia by depolarisers and of delayed recovery from neuromuscular blockade following the use of nondepolarising NMBs.
There is also increased incidence of seizures and staring spells, which together with spinal canal anomalies should be excluded before considering central neuraxial block. As our patient did not have any of these problems, we used caudal block for supplementing postoperative analgesia. This helped reduce the overall requirement of opioids which was useful in these apnoea-prone children with anticipated difficult airway.
Undescended testes, hypospadias and renal agenesis have been described. Evaluation of renal function is essential and when required, drugs with minimal dependence on renal clearance should be used.
Patients of RTS often require ophthalmic surgeries for conditions such as strabismus, ptosis, glaucoma or cataract. Drugs that raise intraocular pressure should be avoided.
Higher incidence of malignant and benign neoplasias, especially of head and neck, has been described besides haematological malignancies. Meningioma, neuroblastoma, medulloblastoma, oligodendroglioma and seminoma have all been described.
| Conclusion|| |
Anaesthetic management of a patient with RTS can be complicated by the presence of craniofacial anomalies causing a difficult airway. Associated cardiorespiratory defects can increase perioperative morbidity and mortality. Detailed preanaesthetic evaluation and preparation are therefore necessary for a successful patient outcome.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the parents have given their consent for the child's images and other clinical information to be reported in the journal. The parents understand that the child'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]