Anesthesia in patient with Rubinstein-Taybi syndrome: case report

Abstracts

JUSTIFICATIVA E OBJETIVOS: A síndrome de Rubinstein-Taybi (SRT) é uma doença genética causada por uma mutação ou apagamento do cromossomo 16, caracterizada por retardo físico e mental, anormalidades craniofaciais e hálux e polegares largos. Há pouca informação sobre esta síndrome na literatura anestésica. O objetivo deste relato foi apresentar a conduta anestésica em paciente submetido à cirurgia odontológica e discutir as características de interesse para a anestesia nesses pacientes. RELATO DO CASO: Paciente do sexo masculino, 9 anos, 28 kg, submetido à anestesia geral para extrações de dentes anormalmente posicionados. Apresentava as características típicas da SRT, retardo físico e mental, anormalidades craniofaciais e hálux e polegares largos. A anestesia foi induzida e mantida com sevoflurano, inicialmente sob máscara facial e após intubação nasotraqueal em ventilação assistida manual com sistema de Bain. Não houve intercorrências e a cirurgia foi realizada em regime ambulatorial. CONCLUSÕES: A importância da avaliação pré-anestésica é enfatizada, devido às malformações, inclusive cardíacas, associadas a esta síndrome. Este paciente, em particular, não apresentava comprometimento cardíaco, presente em um terço dos casos. É recomendável preparação para possível dificuldade de manutenção das vias aéreas.

ANESTESIA; DOENÇAS

CLINICAL REPORT

Anesthesia in patient with Rubinstein-Taybi syndrome. Case report^*

Anestesia en paciente con síndrome de Rubinstein-Taybi. Relato de caso

Carlos Rogério Degrandi Oliveira, TSA, M.D.^I; Luciana Elias, M.D.^II

^IAnestesiologista da Santa Casa de Misericórdia de Santos; Co-Responsável do CET da Santa Casa de Santos; Membro da Comissão Científica da SAESP

^IIAnestesiologista da Beneficência Portuguesa de Santos

^{Correspondence to}

SUMMARY

BACKGROUND AND OBJECTIVES: Rubinstein-Taybi syndrome (RTS) is a genetic disease caused by mutation or deletion of chromosome 16, and characterized by growth and mental retardation, clubbing thumbs and toes and craniofacial abnormalities. There is little information about RTS in the anesthetic literature. This report aimed at describing the anesthetic management of a patient with Rubinstein-Taybi syndrome submitted to dentistry surgery and at discussing aspects of this syndrome that may be relevant to anesthesia.

CASE REPORT: Male patient, 9-year-old, 28 kg, to be submitted to general anesthesia for extraction of abnormally positioned teeth. Patient presented with typical RTS characteristics (growth and mental retardation, clubbing thumbs and toes and craniofacial abnormalities). Anesthesia was induced and initially maintained with sevoflurane under facial mask; after tracheal intubation it was maintained under manually controlled ventilation with Bain system. There have been no complications and procedure was performed in outpatient regimen.

CONCLUSIONS: The importance of thorough preanesthetic evaluation is emphasized due to possible associated malformations, including heart diseases. In this particular case, there was no heart disease, which is reported to be present in one-third of cases. Attention to difficult airway maintenance is recommended.

Key Words: ANESTHESIA, Pediatric; DISEASES: Rubinstein-Taybi syndrome

RESUMEN

JUSTIFICATIVA Y OBJETIVOS: El síndrome de Rubinstein-Taybi (SRT) es una enfermedad genética causada por una mutación o apagamiento del cromosoma 16, caracterizada por retardo físico y mental, anormalidades craneofaciales y hálux y pulgares anchos. Hay poca información sobre este síndrome en la literatura anestésica. El objetivo de este relato ha sido en presentar la conducta anestésica en paciente sometido a cirugía odontológica y discutir las características de interés para la anestesia en estos pacientes.

RELATO DEL CASO: Paciente del sexo masculino, 9 años, 28 kg, sometido a la anestesia general para extracciones de dientes anormalmente posicionados. Presentaba las características típicas de la SRT, retardo físico y mental, anormalidades craneofaciales y hálux y pulgares anchos. La anestesia fue inducida y mantenida con sevoflurano, inicialmente bajo máscara facial y después intubación nasotraqueal en ventilación asistida manual con sistema de Bain. No hubo interocurrencias y la cirugía fue realizada en régimen ambulatorial.

CONCLUSIONES: La importancia de la evaluación pre-anestésica es realizada, debido a las malformaciones, incluso cardíacas, asociadas a este síndrome. En este caso en particular, el paciente no presentaba comprometimiento cardíaco, presente en un tercio de los casos. Se recomienda preparación para una posible dificultad de mantenimiento de las vías aéreas.

INTRODUCTION

Rubinstein-Taybi syndrome (RTS) is a genetic disease caused by chromosome 16 abnormalities and leading to physical and mental retardation, craniofacial abnormalities and clubbing thumbs and toes. One third of patients also present congenital heart diseases. There is little information in the literature about the anesthetic approach for this syndrome, however several RTS patients have to be submitted to anesthesia for diagnostic investigation or surgical correction of multiple malformations.

This report aimed at describing the anesthetic management of a patient with Rubinstein-Taybi syndrome submitted to dentistry surgery for extraction of abnormally positioned teeth, and at discussing aspects of this syndrome that may be relevant to anesthesia.

CASE REPORT

Male patient, 9 years old, 28 kg, with diagnosis of RTS since birth, was scheduled for dentistry surgery for extraction abnormally positioned teeth. Notwithstanding the friendly mood of this patient, procedure could not be performed at the dentist office under local anesthesia due to lack of cooperation. Patient was then referred to the Anesthesiology department for evaluation and performing of the procedure under general anesthesia.

Patient was not routinely medicated. Patient presented history of bronchial asthma until 4 years of age and of hospital admissions due to bronchopneumonia and adenotonsillectomy. At physical evaluation, patient presented Mallampati class III, typical face with microcephaly, hypertelorism, hypoplastic maxilla and retrognathism (Figure 1). Cardiologic evaluation by clinical exam, ECG and EEG has not revealed diseases or malformations.

Patient was not premedicated. Material to difficult airway management was prepared (stilets, laryngeal mask and laryngofibroscope).

After monitoring with precordial stethoscope, noninvasive blood pressure, cardioscopy and pulse oximetry, inhalational anesthesia was induced under facial mask with sevoflurane and O₂ by Bain system. Right arm was catheterized with 22G catheter after anesthetic induction.

Previous laryngoscopy with curve blade was performed and Cormak-Lehane II was attributed. Then patient was nasally intubated with the aid of Magill's clamp, with 5.5 cuffed tracheal tube. Anesthesia was maintained with O₂, N₂O (33%/66%) and sevoflurane in variable concentrations (3% to 4.5%), spontaneous ventilation was maintained and complemented by manual ventilation only in the beginning of the procedure.

Infiltrative block was performed by the surgeon with 0.25% levobupivacaine with vasoconstrictor. Procedure lasted 60 minutes with patient hemodynamically stable. Patient was extubated after airway aspiration and presence of protecting reflexes. Patient was discharged 4 hours after being referred to PACU.

DISCUSSION

In 1963, two physicians, Jack H. Rubinstein and Hooshang Taybi, have reported the case of seven children with clubbing and large thumbs and toes, associated to craniofacial abnormalities and mental retardation ¹. Later, other characteristics were reported, such as repetition respiratory infections and congenital heart disease in one third of cases ².

These changes are caused by mutation or deletion of chromosome 16 ^3,4. RTS is uniformly distributed between males and females. Syndrome was considered uncommon, but there has been increased number of cases reported every year, making it not so uncommon as it was initially thought. It is estimated that 1:600 patients admitted to mental clinics present this disease ⁵. It is very common that a child mildly affected does not show any severe medical problem, extreme characteristics or significant mental retardation being diagnosed only during adolescence. There are two reports in the literature of monozygotic twins ^6,7, as well as a report on mother and child with RTS ⁸.

Diagnosis is in general done in the neonatal period by the presence of typical abnormalities, however the association with other syndromes or diseases has been reported, which may make more difficult the diagnosis and require genetic evaluation ^9-11.

Patients have good life expectancy and reports on adults with STR are frequent. Respiratory infections and complications caused by heart malformations during childhood are major causes of morbidity and mortality ¹².

Problems during anesthetic management of these children are focused on two major areas: skeletal abnormalities (craniofacial and vertebral) and cardiovascular changes.

Phenotypic expression is variable, and craniofacial abnormalities may include: microcephaly, eyelid antimongoloid clefts, sharp nose, hypertelorism, hypoplastic mandible, arched palate, retrognathism and micrognathism ^13,14.

Some anatomic malformation may result in narrowing and collapsing of upper airways, and this has been reported as cause of ventilation problems in non-anesthetized individuals ^13-15.

Dental abnormalities are frequent and lead these patients to procedures under general anesthesia for restorations, multiple extractions and orthognathic evaluations ^16-18.

Cervical hyperkyphosis was present in 62% and scoliosis in 38% of patients in a study with 45 RTS patients ¹⁶.

The anesthetic procedure may also be directly affected by cardiac abnormalities, which bring major risks for this group of patients. Although there is no syndrome-specific defect, they are present in approximately 33% of patients, very often requiring early correction^19-21. Most frequent malformations are CIA, CIV, ductus arteriosus persistence, aortic coarctation, lung stenosis and bicuspid aortic valve¹⁹. The presence of cardiac structural and functional abnormalities increases the incidence of arrhythmias, especially when vasoactive drugs are used. Neostigmine and atropine-induced changes in sympathetic and parasympathetic tone may trigger ectopic rhythms ²². Succinylcholine should be avoided in these patients because it is responsible for supraventricular tachycardia, and early atrial and ventricular contractions ²². Most frequent respiratory complication is gastric content aspiration, especially during sleep and emergence. Recurrent aspiration is frequently associated to chronic or acute pneumonia ².

Premedication should be carefully given. Sedatives may be effective to decrease psychological stress, but the risk of respiratory depression and upper airway problems may make them undesirable.

Eye changes may be present, among them congenital glaucoma ^23-26. The association with congenital hyperthyroidism is also reported ^27,28.

Patients with this syndrome have a higher incidence of malignant and benign neoplasias, especially of head and neck ^29-32.

Neuraxial blocks may be used, provided patients have no spinal abnormalities. There is a report on general anesthesia complemented with sacral block for bilateral inguinal hernia correction ³³.

Due to thumb metacarpophalangeal changes ³⁴, muscle relaxation monitoring with ulnar nerve stimulation and observation of adductor pollicis muscle by acceleromyography should be avoided, giving preference to facial nerve stimulation and observation of orbicular muscle of eye.

Due to the wide variety of RTS phenotypes, one should be ready for handling difficult airways. Although these patients have recognized difficult airways, there are some cases of easy intubation, showing that there is not always correlation between previous predictability criteria and the presence of difficult intubation ^35-37.

Laryngeal mask has shown to be useful to control difficult airways in adult RTS patient submitted to eye surgery ³⁸.

Since RTS courses with a significant incidence of heart involvement, a careful preoperative evaluation is recommended for all patients to be submitted to anesthetic procedures to determine adequate clinical conditions and associated risks ¹⁹.

Our patient had no heart disease and due to the history of previous exposure to inhalational anesthesia we decided to repeat this technique. Sevoflurane was the inhalational agent of choice because of its favorable properties for pediatric anesthesia.

Patient's clinical condition and anesthetic outcome have allowed operating him in outpatient regimen.

REFERENCES

Submitted for publication February 21, 2005

Accepted for publication May 18, 2005

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^*

Received from Hospital Universitário da Universidade Federal de Santa Catarina, Florianópolis, SC

Publication Dates

• Publication in this collection
  13 Feb 2006
• Date of issue
  Oct 2005

History

• Accepted
  18 May 2005
• Received
  21 Feb 2005