Manejo de vía aérea difícil en secuencia de Pierre Robin. Reporte de un caso / Difficult airway management in Pierre Robin Sequence. A case report

La secuencia de Pierre Robin (SPR) es una enfermedad rara, caracterizada por una tríada de malformaciones orofaciales como retrognatia, glosoptosis y fisura velopalatina media (paladar hendido); las cuales, generalmente provocan obstrucción de la vía aérea (OVA). La corrección de los defectos palatinos requiere en ocasiones varias intervenciones quirúrgicas, por esta razón el cuidado anestésico y abordaje de la vía aérea en forma adecuada, evita complica-ciones asociadas a esta enfermedad. Se presenta el caso de un paciente de 1 año y 20 días de edad, con antecedentes de vía aérea difícil, intentos fallidos de intubaciones preliminares e intervenido quirúrgicamente para corrección de paladar hendido, luego de una técnica combinada de intubación nasal con fibrobroncoscopio, desplazamiento de glosoptosis con ayuda de pala número 2 de videolaringoscopio (Glidescope®); manejo transoperatorio anestésico y proceso de extubación con excelentes resultados. Destacamos la importancia de realizar una adecuada planificación multidisciplinaria prequirúrgica con valoración exhaustiva de la vía aérea (VA) por laringoscopía directa o fibrobroncospia flexible para conocer el sitio exacto de la obstrucción y evitar desen-laces adversos.

Pierre Robin Sequence (PRS) is a rare disease characterized by a triad of orofacial malformations such as retrognathia, glossoptosis and velopalatine fissure (cleft palate). The malformations in PRS can lead into airway obstruction. The correction of the palatal defects sometimes requires several surgical interven-tions. Proper anesthetic care and a carefully planned approach to the airway can avoid complications associated with this disease. We present the case of a 1 year and 20 days old patient, with history of difficult airway, unsuccessful prior attempts of intubation, who underwent surgery to correct a cleft palate. We used a combined approach that included nasal intubation technique with a fiberoptic bronchoscope aided with a number 2 video laryngoscope blade (Gli-descope®) for displacement of the glossoptosys. Details of the intraoperative anesthetic management and subsequent successful extubation are provided. We highlight the importance of developing an adequate preoperative multidisciplinary plan of action, after a careful and detailed evaluation of the airway with direct laryngoscopy or fiberoptic bronchoscopy in order to identify the exact location of the obstruction and avoid adverse outcomes.

"Ortoglossopelveplastia" e o algoritmo de sua utilização na sequência de Pierre-Robin / "Orthoglossopelveplasty" and the algorithm for its use in the Pierre Robin sequence

Introdução: Muitos pacientes portadores de sequência de Pierre Robin (micrognatia, glossoptose e obstrução de via aérea) apresentam o músculo genioglosso alterado, encurtado e retrátil, que impede a protração lingual, mantendo a parte anterior da língua verticalizada e seu volume deslocado em direção posterior. Isso pode corroborar para obstrução supraglótica, dificuldade alimentar e inversão das forças de estímulo do crescimento do corpo mandibular. Métodos: Estudo retrospectivo de pacientes com Pierre Robin tratados entre 2012 e 2017 pela equipe, com descrição da "ortoglossopelveplastia", que propõe uma modificação na glossopexia, soltando o genioglosso anômalo da sua inserção, liberando a língua para elevar seu terço anterior e avançar o volume de sua base, sendo auxiliada por ponto de tração da base lingual à sínfise mandibular. Apresentamos um algoritmo de tratamento proposto que prioriza a necessidade desta cirurgia, associada ou não à distração mandibular, de acordo com a gravidade da dificuldade respiratória e/ou alimentar. Resultados: São apresentados 12 casos de obstrução da orofaringe atendidos de 2012 a 2017, discutem-se suas prioridades, a ortoglossopelveplastia e se aplica o algoritmo proposto. Conclusão: A reorganização anatômica da musculatura em uma posição anteriorizada correta proporciona protração e funcionalidade à língua, com desobstrução da via aérea na orofaringe, melhora da função alimentar e do desenvolvimento mandibular, com baixa morbidade cirúrgica e poucas complicações.

Introduction: Several patients with the Pierre Robin sequence (micrognathia, glossoptosis, and airway obstruction) have an altered, shortened, and retractable genioglossus muscle that prevents protraction of the tongue and keeps the anterior part of the tongue vertical and its volume posteriorly displaced. This can contribute to supraglottic obstruction, feeding difficulty, and inversion of the growth stimulation forces of the mandibular body. Methods: A retrospective study of patients with the Pierre Robin sequence treated between 2012 and 2017 with "orthoglossopelveplasty," which includes modification of glossopexy, releasing the anomalous genioglossus of its insertion and releasing the tongue to raise its anterior third and advance the volume of its base using a traction suture of the tongue base to the mandible symphysis. We present a treatment algorithm that prioritizes the need for surgery associated, or not, with mandibular distraction in accordance with respiratory and/or feeding difficulty severity. Results: Twelve cases of oropharyngeal obstruction treated from 2012 to 2017 are presented, their priorities and orthoglossopleoplasty are discussed, and the proposed algorithm is applied. Conclusion: Anatomical reorganization of the musculature in a correct anterior position provides protraction and functionality to the tongue, clears the airway in the oropharynx, and improves the feeding function and mandibular development, with low surgical morbidity rates and few complications.

Three Cases of Pierre Robin Sequence with Upper Airway Obstruction Relieved by Nasopharyngeal Airway Insertion

Pierre Robin sequence (PRS), also called Robin sequence, is a congenital anomaly characterized by a triad of micrognathia, glossoptosis, and upper airway obstruction. Infants with PRS can present with varying degrees of respiratory difficulty secondary to upper airway obstruction. There has been no consensus for the treatment of upper airway obstruction in infants with PRS, but recent studies recommend attempting non-surgical interventions before surgical treatment. In this case report, we present 3 cases of infants diagnosed with PRS who showed persistent respiratory difficulties after birth. Before considering surgical intervention, insertion of a nasopharyngeal airway was attempted in these infants. Following this procedure, symptoms of upper airway obstruction were relieved, and all infants were discharged without surgical interventions; the nasopharyngeal airway was removed 1 to 2 months later. To date, no infant has shown signs of upper airway obstruction. Nasopharyngeal airway insertion is a highly effective and less invasive treatment option for infants with PRS. However, it is not widely known and used in Korea. Nasopharyngeal airway insertion can be preferentially considered before surgical intervention for upper airway obstruction in such infants.

Pierre Robin sequence with severe scoliosis in an adult: A case report of clinical and radiological features

Pierre Robin sequence (PRS) is characterized by the triad of micrognathia, glossoptosis, and airway obstruction. PRS does not have a single pathogenesis, but rather is associated with multiple syndromes. This report presents the case of a 35-year-old woman with PRS and scoliosis. Among the syndromes related to PRS, cerebro-costo-mandibular syndrome (CCMS), which is characterized by posterior rib gap defects and vertebral anomalies, was suspected in this patient. However, no posterior rib gap defect was detected on radiological examinations. Although over 80 cases of CCMS have been reported to date, few cases of PRS with scoliosis alone have been reported. Therefore, this report demonstrated the clinical, radiological, and cephalometric characteristics of an adult patient with PRS and scoliosis, but without rib anomalies.

1q21.1 microdeletion identified by chromosomal microarray in a newborn with upper airway obstruction

A 1q21.1 microdeletion is an extremely rare chromosomal abnormality that results in phenotypic diversity and incomplete penetrance. Patients with a 1q21.1 microdeletion exhibit neurological-psychiatric problems, microcephaly, epilepsy, facial dysmorphism, cataract, and thrombocytopenia absent radius syndrome. We reported a neonate with confirmed intrauterine growth restriction (IUGR), micrognathia, glossoptosis, upper airway obstruction, facial dysmorphism, and eye abnormality at birth as well as developmental delay at the age of 1 year. These clinical manifestations, except for the IUGR and upper airway obstruction, in the neonate indicated a 1q21.1 microdeletion. Here, we report a rare case of a 1q21.1 microdeletion obtained via paternal inheritance in a newborn with upper airway obstruction caused by glossoptosis and tracheal stenosis.

Tracheostomy in children: a ten-year experience from a tertiary center in southern Brazil / Traqueostomia em crianças: uma experiência de dez anos em um centro terciário do sul do Brasil

Abstract Introduction: Children may require tracheostomy due to many different health conditions. Over the last 40 years, indications of tracheostomy have endorsed substantial modifications. Objective: To evaluate pediatric patients warranted tracheostomy at our Hospital, in regard to their indications, associated comorbidities, complications and decannulation rates. Methods: Retrospective study concerning patients under 18 years of age undergoing tracheostomy in a tertiary health care center, from January 2006 to November 2015. Results: 123 children required a tracheostomy after ENT evaluation during the study period. A proportion of 63% was male, and 56% was under one year of age. Glossoptosis was the most common indication (30%), followed by subglottic stenosis (16%) and pharyngomalacia (11%). The mortality rate was 31%. By the end of this review, 35 children (28.4%) had been decannulated, and the fewer the number of comorbidities, the greater the decannulation rate (0.77 ± 0.84 vs. 1.7 ± 1.00 comorbidities; p < 0.001). Conclusion: Tracheostomy in children is a relatively frequent procedure at our hospital. The most common indications are glossoptosis and subglottic stenosis. A high mortality rate was found, potentially substantiated by the high number of critical care patients with chronic neurological conditions in this cohort. Our decannulation rate is slightly below other series, probably because of the greater amount of patients with comorbidities.

Resumo Introdução: As crianças podem necessitar de traqueostomia devido a diferentes problemas de saúde. Ao longo dos últimos 40 anos, as indicações de traqueostomia passaram por mudanças substanciais. Objetivo: Avaliar pacientes pediátricos com traqueostomia no nosso hospital, no que diz respeito às suas indicações, comorbidades associadas, complicações e taxas de decanulação. Método: Estudo retrospectivo de pacientes com menos de 18 anos submetidos a traqueostomia em um centro de saúde terciário, de janeiro de 2006 a novembro de 2015. Resultados: 123 crianças precisaram de uma traqueostomia após avaliação otorrinolaringológica durante o período do estudo. Do total, 63% eram do sexo masculino e 56% menores de um ano. Glossoptose foi a indicação mais comum (30%), seguida por estenose subglótica (16%) e faringomalácia (11%). A taxa de mortalidade foi de 31%. Até o fim deste artigo, 35 crianças (28,4%) haviam sido decanuladas e quanto menor o número de comorbidades, maior foi a taxa de decanulação (0,77 ± 0,84 vs. 1,7 ± 1,00 comorbidades; p < 0,001). Conclusão: A traqueostomia em crianças é um procedimento relativamente frequente em nosso hospital. As indicações mais comuns são glossoptose e estenose subglótica. Uma alta taxa de mortalidade foi encontrada, potencialmente comprovada pelo elevado número de pacientes críticos com condições neurológicas crônicas nessa coorte. Nossa taxa de decanulação está ligeiramente abaixo de outras séries, provavelmente por causa da maior quantidade de pacientes com comorbidades.