Anesthesia in a patient with Marshall-Smith syndrome: case report

Abstracts

JUSTIFICATIVA E OBJETIVOS: A síndrome Marshall-Smith é uma doença rara, caracterizada por dismorfismo facial, acelerada maturação óssea, atraso no desenvolvimento neuropsicomotor e anormalidade das vias aéreas. Os pacientes com essa síndrome apresentam grande probabilidade de complicações anestésicas, sobretudo com relação ao manejo das vias aéreas. Há poucos dados na literatura anestésica a respeito desta síndrome. O objetivo deste relato foi apresentar as dificuldades e a conduta anestésica em uma criança de 28 dias, portadora dessa síndrome, submetida à cirurgia para correção de atresia de coanas sob anestesia geral. RELATO DO CASO: Criança do sexo masculino, 28 dias de vida, 2,8 kg, submetida à anestesia geral para correção cirúrgica de atresia de coanas. Apresentava as características típicas da síndrome Marshall-Smith como tórax estreito, pectus escavatum, mãos e pés grandes, pescoço comprido, dismorfismo facial, palato alto e estreito e acelerada maturação óssea. A indução anestésica foi inalatória sob máscara com O2 a 100% associado ao sevoflurano. Devido à possibilidade de intubação difícil, foi programada intubação traqueal com fibrobroncoscópio. Após intubação traqueal e ventilação assistida manual, foi administrado 1,5 mg de rocurônio e, passados dez minutos, o paciente apresentou bradicardia (80 bpm) e hipóxia acentuada (30% de saturação de O2) e impossibilidade de ventilação manual através do tubo traqueal, sendo necessária a realização de traqueostomia de urgência, quando se optou por suspender o procedimento cirúrgico. CONCLUSÃO: Em casos de emergência anestésico-cirúrgica, nos quais a criança não ventila e não é possível a intubação traqueal, ocorre dessaturação com bradicardia associada e a tomada de decisão deve ser rápida e apropriada para garantir uma ventilação pulmonar adequada. Esses pacientes necessitam avaliação cuidadosa das vias aéreas para identificação de obstrução alta e baixa. Durante a anestesia, a ventilação espontânea deve ser mantida durante a indução até que seja possível o controle das vias aéreas evitando a utilização de bloqueadores neuromusculares.

ANESTESIA; DOENÇAS

CLINICAL REPORT

Anesthesia in a patient with Marshall-Smith syndrome. Case report^*

Anestesia en paciente con síndrome de Marshall-Smith. Relato de caso

Beatriz Lemos da Silva Mandim, TSA^I; Neuber Martins Fonseca, TSA^II; Roberto Araújo Ruzi, TSA^I; Paulo Cezar Silva Temer^III

^ICo-Responsável pelo CET/SBA da Faculdade de Medicina da Universidade Federal de Uberlândia

^IIProfessor Doutor e Adjunto da Disciplina de Anestesiologia; Responsável pelo CET/SBA da Faculdade de Medicina da Universidade Federal de Uberlândia; Presidente da Comissão de Normas Técnicas e Segurança em Anestesia da Sociedade Brasileira de Anestesiologia

^IIIME₃ do CET/SBA da Faculdade de Medicina da Universidade Federal de Uberlândia

^{Correspondence to}

SUMMARY

BACKGROUND AND OBJECTIVES: The Marshall-Smith Syndrome is a rare disease characterized by facial dysmorphism, accelerated osseous maturation, retarded neuropsychomotor development, and abnormalities of the airways. Patients with this syndrome have a high risk of developing anesthetic complications, especially concerning the maintenance of the airways. There are very few data in the anesthetic literature regarding this syndrome. The objective of this report was to show the difficulties and anesthetic management in a 28-day old child with this syndrome, who underwent surgery for correction of choanal atresia under general anesthesia.

CASE REPORT: A male child, 28 days old, weighing 2.8 kg, undergoing general anesthesia for surgical correction of choanal atresia. The child presented the typical manifestations of the Marshall-Smith syndrome, with a narrow thorax, pectus excavatum, large hands and feet, long neck, facial dysmorphism, high and arched palate, and accelerated osseous maturation. Anesthetic induction was done with a mask with 100% O₂ associated with sevoflurane. Due to the possibility of a difficult intubation, tracheal intubation with a fibrobronchoscope was scheduled. After tracheal intubation and assisted manual ventilation, 1.5 mg of rocuronium were administered and, after ten minutes, the patient developed bradycardia (80 bpm), severe hypoxemia (O₂ saturation of 30%), and manual ventilation through the tracheal tube became impossible. An urgent tracheostomy was done and the surgical procedure was cancelled.

CONCLUSION: In cases of anesthetic-surgical emergencies, in which the child does not ventilate and tracheal intubation is not possible, there is desaturation and bradycardia, requiring fast and appropriate decision making to guarantee adequate pulmonary ventilation. These patients need careful evaluation of the airways to identify upper and lower airways obstruction. During anesthesia, spontaneous ventilation should be maintained during induction until control of the airways is possible, avoiding the use of neuromuscular blockers.

Key Words: ANESTHESIA, Pediatric; DISEASES: Marshall-Smith Syndrome.

RESUMEN

JUSTIFICATIVA Y OBJETIVO: El síndrome Marshall-Smith es una enfermedad rara, caracterizada por deformidad facial, acelerada madurez ósea, atraso en el desarrollo neuro psicomotor y anormalidad de las vías aéreas. Los pacientes con este síndrome presentan una gran probabilidad de complicaciones anestésicas, principalmente con relación al manejo de las vías aéreas. Existen pocos datos en la literatura anestésica a respecto de este síndrome. El objetivo de este relato fue presentar las dificultades y la conducta anestésica en un niño de 28 días, portador de este síndrome, sometido a cirugía para la corrección de atresia de coanas bajo anestesia general.

RELATO DEL CASO: Niño del sexo masculino, 28 días de vida, 2,8 kg, sometido a anestesia general para la corrección quirúrgica de atresia de coanas. Presentaba las características típicas del síndrome Marshall-Smith como tórax estrecho, pectus escavatum, manos y pies grandes, cuello largo, deformidad facial, palato alto y estrecho y una acelerada madurez ósea. La inducción anestésica fue por inhalación bajo máscara con O₂ a 100% asociado al sevoflurano. Debido a la posibilidad de intubación difícil, fue programada intubación traqueal con fibrobroncoscopio. Después de intubación traqueal y ventilación asistida manual, fue administrado 1,5 mg de rocuronio y, pasados diez minutos, el paciente presentó bradicardia (80 lpm) e hipoxia acentuada (30% de saturación de O₂) e imposibilidad de ventilación manual a través del tubo traqueal, siendo necesaria la realización de traqueotomía de urgencia cuando se optó por suspender el procedimiento quirúrgico.

CONCLUSIÓN: En casos de emergencia anestésico-quirúrgica donde el niño no ventila y no es posible la intubación traqueal, ocurre una falta de saturación con bradicardia asociada y la toma de decisión debe ser rápida y apropiada para garantizar una ventilación pulmonar adecuada. Esos pacientes necesitan evaluación cuidadosa de las vías aéreas para la identificación de obstrucción alta y baja. Durante la anestesia, la ventilación espontánea debe ser mantenida durante la inducción hasta que sea posible el control de las vías aéreas evitando la utilización de bloqueadores neuromusculares.

INTRODUCTION

The Marshall-Smith syndrome is a rare clinical disorder characterized by accelerated osseous maturation, facial dysmorphism, abnormalities of the airways, retardation of the neuropsychomotor development, hypotonia, and mental retardation ¹. The mean survival of patients with this syndrome is 3 years, and death is secondary to complications related, especially, with the respiratory system ^2,9,10.

Facial alterations (prominent eyes and forehead, micrognathia with mandibular hypoplasia, blue sclera, and anteverted nostrils ⁸), as well as changes in the airways (laryngomalacia, tracheomalacia, and congenital and acquired functional pulmonary changes) are a concern to the anesthesiologist. They can hinder airways management ², such as ventilation with mask and tracheal intubation, and cases of difficult tracheal intubation or the impossibility to intubate the patient have been reported ³.

The following case describes a 28-day old child who underwent surgical correction of choanal atresia under general anesthesia. During the procedure, the patient presented severe hypoxemia and difficulty to ventilate after tracheal intubation using an optical fibroscope, requiring urgent tracheostomy.

CASE REPORT

A 28-day old male child, born at term, weighing 2.8 kg, with a possible genetic syndrome, was admitted to the operating room for surgical correction of choanal atresia.

Clinically, the child seem in regular general state, hydrated, mucous membranes were pink, he was breathing spontaneously with an oxygen mask, with sternal retractions and inspiratory rales. His was long, had a narrow thorax, pectus excavatum, large hands and feet, long neck, prominent forehead, blue sclera, dysplastic ears with low implantation, small nose, micrognathia, high and narrow palate, and cryptorchidism. Laboratory exams and serology were normal. The echocardiogram showed a pervious oval foramen, and electrocardiogram a sinus tachycardia. Ultrasound of the head demonstrated the presence of initial, moderate hydrocephalus, and abdominal ultrasound did not show any abnormalities. Computed tomography and fibroscopy revealed choanal atresia.

Patient was to be submitted to surgical correction of choanal atresia under general anesthesia and tracheal intubation with an optical fibroscope. In the operating room, monitoring consisted of pulse oxymetry, cardioscope, and precordial stethoscope. Inhalational induction was done with a mask, adequate ventilation, and 100% oxygen associated with 3% sevoflurane.

Intubation was done with the help of a fibroscope due to the possibility of a difficult intubation, and it demonstrated the presence of choanal atresia and opened airways.

Before beginning the surgery, it was decided to administer a neuromuscular blocker (NMB) to maintain controlled mechanical ventilation; 1.5 mg of atracurium were administered and, after ten minutes, the patient developed bradycardia (80 bpm), severe hypoxemia (O₂ saturation of 30%), and it became impossible to maintain manual ventilation through the endotracheal tube, requiring a urgent tracheostomy. Atropine, 0.1 mg, was administered, with a good cardiovascular response and it was possible to ventilate the child through the tracheostomy cannula until the oxymetry returned to 90%. It was then decided to cancel the surgery, revert the neuromuscular blockade with 0.25 mg of neostigmine, and the child was transferred to the semi-intensive care unit ventilating spontaneously with an O₂ catheter.

The patient presented a favorable clinical evolution, and developed several episodes of airways infection and pneumonia during the following two years. During this period, he underwent two surgical procedures, a gastrostomy, under inhalational anesthesia with sevoflurane and O₂ through a tracheostomy and, when he was 2 years and 8 months old, and weighed 8 kg, he underwent blepharorraphy due to severe exophthalmos (Figure 1) under general inhalational anesthesia with sevoflurane and O₂, without intercurrences. However, during the hospitalization, he developed severe pulmonary infection, leading to his death.

DISCUSSION

In 1971, Marshall et al. ⁴ described a syndrome characterized by accelerated osseous maturation, orofacial dysmorphism, respiratory changes, and failure to thrive, associated with mental retardation. Recurring pulmonary infections that limit the life span of those patients are also present ⁶.

The skeletal manifestations include: accelerated osseous development; tubular, long, and narrow bones; wide medial phalanges and distal phalanges relatively narrow; and scoliosis. Adam et al. ⁷ suggested this condition should be classified as an osteochondrodysplasia and, so far, the molecular etiology has not been proven. These changes help the diagnosis, but as far as anesthesia is concerned, we should be aware of the presence of atlanto-axial instability, which could result in compression of the spinal cord during extension or flexion of the cervical spine. Manipulation of the head and intubation maneuvers should be done with extreme caution and, if possible, after radiological evaluation.

Choanal atresia is an obstruction or severe stenosis of the posterior nasal passage, usually composed of osseous tissue, and might cause respiratory difficulties if it is obstructed bilaterally, causing cyanosis when the mouth is closed or during feeding, requiring surgical intervention or tracheostomy in order to maintain adequate ventilation ¹¹.

In the Marshall-Smith syndrome, laryngomalacia and tracheomalacia can interfere with ventilation with a mask in patients undergoing general inhalational anesthesia, with or without the use of neuromuscular blockers. In those patients, during spontaneous breathing, the larynx remains opened due to the tonus of the laryngeal muscles, but stridor and sternal retraction can be present in awake patients ⁶. When the patient is under the effects of neuromuscular blockers, muscle tonus disappears and the pressure exerted by ventilation with the pharyngeal mask compresses the larynx, making it difficult or impossible to breath due to the pharyngeal abnormality and facial anatomical changes. The association with hypoplastic thorax could lead to a restrictive syndrome, therefore reducing oxygen reserve.

The child described here had, in the preoperative period, respiratory difficulty and expiratory stridor; however, ventilation using a mask and intubation with the aid of a fibrobronchoscope was possible; the fibrobronchoscopy confirmed the presence of choanal atresia that did not obstruct completely the airways. The patient had adequate ventilation using the ambu bag when, after the administration of the NMB, it was not possible to ventilate the child through the endotracheal tube anymore, leading to severe hypoxemia and the need of an urgent tracheostomy. Afterwards, it was possible to ventilate the child again, probably because the tracheostomy cannula was positioned below the area of tracheomalacia that obstructed the lumen of the endotracheal tube. This maneuver allowed the maintenance of opened airways at that moment, and was important in the long-term follow-up of the child.

In cases of anesthetic-surgical emergencies in which the child does not ventilate and tracheal intubation is not possible, desaturation and bradycardia ensures. Decision-making at this time should be quick and appropriate to guarantee adequate pulmonary ventilation ⁸. Butler et al. ¹² studied different genetic diseases and recommended that patients with the Marshall-Smith syndrome should be evaluated in the preoperative period through a simple chest radiograph to identify the advanced osseous age and should have careful evaluation of their airways to identify high or low obstruction. During anesthesia, spontaneous ventilation should be maintained during induction and control of the airways by avoiding the use of neuromuscular blockers.

REFERENCES

Submitted em 21 de julho de 2006

Accepted para publicação em 25 de abril de 2007

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• 02. Roodhooft AM, Van Acker KJ, Van Thienen MN et al. Marshall-Smith syndrome: new aspects. Neuropediatrics, 1988;19:179-182.
• 03. Jonson JP, Carey JC, Glassy FJ et al. Marshall-Smith syndrome: two case reports and a review of pulmonary manifestations. Pediatrics, 1983;71:219-223.
• 04. Marshall RE, Graham CB, Scott CR et al. Syndrome of accelerated skeletal maturation and relative failure to thrive: a newly recognized clinical growth disorder. J Pediatr, 1971; 78:95-101.
• 05. Charon A, Gillerot Y, Van Maldergem L et al. The Marshall-Smith syndrome. Eur J Pediatr, 1990;150:54-55.
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• 07. Adam MP, Hennekam RC, Keppen LD et al. Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. Am J Med Gen, 2005;137A:117-124.
• 08. Cullen A, Clarke TA, O'Dwyer TP The Marshall-Smith syndrome: a review of the laryngeal complications. Eur J Pediatr, 1997;156:463-464.
• 09. Sperli D, Concolino D, Barbato C et al. Long survival of a patient with Marshall-Smith syndrome without respiratory complications. J Med Genet, 1993;30:877-879.
• 10. Washington K, Rourk MH, McDonagh D et al. Inflammatory cloacogenic polyp in a child: part of the spectrum of solitary rectal ulcer syndrome. Pediatr Pathol, 1993;13:409-414.
• 11. Frankville DD Congenital malformations: the usual and unusual. ASA Refresher Courses Anesthesiol, 2001;29:123-133.
• 12. Butler MG, Hayes BG, Hathaway MM et al. Specific genetic diseases at risk for sedation/anesthesia complications. Anesth Analg 2000;91:837-855.

*

Received from Serviço de Anestesiologia (CET-SBA) da Faculdade de Medicina da Universidade Federal de Uberlândia, MG

Publication Dates

• Publication in this collection
  31 July 2007
• Date of issue
  Aug 2007

History

• Accepted
  25 Apr 2007
• Received
  21 July 2006