Secuencia de Pierre Robin: descripción de un caso

Antecedentes. La secuencia Pierre Robin tiene dos modalidades de presentación: sindromática y no sindromática, el diagnóstico es clínico y se realiza al momento del nacimiento y puede afectar el crecimiento y desarrollo del lactante. Cuadro clínico y manejo. Fisura palatina en herradura de 1.5 cm x 2 cm en paladar blando, paladar ojival. Sobremordida horizontal y micrognatia causante de glosoptosis evidenciada por ronquidos intermitentes al mantener al paciente en posición supina, sin insuficiencia respiratoria, succión débil y descoordinación succión-deglución. Manejo con placa ortopédica palatina y control periódico hasta los 18-24 meses de edad por cirugía plástica. Uso de chupón especial NUK para fisura palatina y ejercicios de coordinación para la función succión- deglución. Conclusión. Aún con los avances tecnológicos que apoyan los diagnósticos prenatales, es importante que el Pediatra tenga en mente que la exploración física sigue siendo la piedra angular ante cualquier diagnóstico. También es importante recordar que hay alteraciones físicas no evidentes a primera vista, como las de cavidad oral, por lo que se requiere una exploración detallada de la misma. (provisto por Infomedic International)

Background. There are two modalities of presentation on the Pierre Robin sequence: syndromic and non-syndromic, the diagnosis is clinical and done at birth, and it can affect the growth and development of the infant. Clinical picture and management. Horseshoe cleft palate 1.5 cm x 2 cm in soft palate, high-arched palate. Overbite and micrognathia causing glosoptosis evidenced by intermittent snoring when keeping the patient in a supine position, without respiratory failure, weak sucking, and sucking-swallowing incoordination. Management with palatal orthopedic plate and periodic control until 18-24 months of age by plastic surgery. Use of a special NUK pacifier for cleft palate and coordination exercises for the sucking-swallowing function. Conclusion. Even with the technological advances that support prenatal diagnosis, it is important that the Pediatrician keep in mind that the physical examination continues to be the cornerstone of any diagnosis. It is also important to remember that there are physical alterations that are not evident at first sight, such as those of the oral cavity, for which reason a detailed examination is required. (provided by Infomedic International)

Pudendal nerve block for circumcision of pediatric patient with Pierre Robin Sequence: case report

Abstract Pierre Robin Sequence (PRS) is a congenital condition characterized by micrognathia, glossoptosis, and cleft palate that presents with airway obstruction and developmental delay with or without other congenital anomalies. These patients' anesthesia management is challenging because of difficult ventilation and intubation. Regional anesthesia methods should be considered for these patients on a case-by-case basis. This report presents primary use of regional anesthesia for circumcision of a 9-year-old boy with PRS.

A case of BMP2 gene variation-caused short stature, facial dysmorphism and skeletal anomalies with or without cardiac anomaly syndrome / 中华围产医学杂志

This article reported the genetic analysis of a case diagnosed with fetal micrognathia and cleft palate by mid-trimester ultrasound in two consecutive pregnancies. In the first pregnancy, the pregnant woman delivered a full-term boy transvaginally, who died two weeks after birth and was diagnosed with Pierre Robin sequence (PRS). Chromosome karyotype and genomic copy number variation. In the second pregnancy, the woman underwent amniocentesis due to suspected PRS presenting by fetal cleft palate, micrognathism, and additional ultrasound anomalies. No abnormalities were detected in fetal karyotype or genomic copy number variation. Whole-exome sequencing, bioinformatics analysis, and Sanger sequencing suggested that both the fetus and the firstborn boy inherited a possible pathogenic variant of c.79delG p.E27Sfs*24 in the BMP2 gene from the mother. The pregnancy was terminated after the genetic consultation. Fetal phenotypes in the two fetuses were similar, indicating that short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomaly in the pedigree were caused by the heterozygous variant of c.79delG p.E27Sfs*24 in the BMP2 gene.

Risk factors for first weaning failure following mandibular distraction osteogenesis in pediatric patients with Pierre Robin sequence: a nested case-control study / 中华麻醉学杂志

Objective:To identify the risk factors for the first weaning failure following mandibular distraction osteogenesis in pediatric patients with Pierre Robin sequence (PRS).Methods:Clinical data of pediatric patients with PRS who underwent mandibular distraction osteogenesis from January 2018 to February 2023 were collected, including sex, age, premature birth, birth weight, surgical weight, cleft palate, syndrome type PRS, laryngeal/tracheobronchial malacia, simple congenital heart disease, complex congenital heart disease, preoperative mechanical ventilation, preoperative pulmonary infection, blood albumin concentration, difficulty in tracheal intubation under a visual laryngoscope, surgical duration, postoperative ventilator-associated pneumonia, duration of mechanical ventilation at first weaning, and traction length at first weaning. Children in whom the first postoperative machine withdrawal failed were included in observation group and matched to control cases(control group) in a 1∶4 ratio. The risk factors of which P values were less than 0.05 would enter the logistic regression analysis to stratify the risk factors for postoperative weaning failure. Results:There were significant differences in birth weight, cleft palate, duration of mechanical ventilation and traction length at first weaning, rate of combined cleft palate, preoperative pulmonary infection rate, rate of preoperative mechanical ventilation, and rate of postoperative ventilator-associated pneumonia between the two groups ( P<0.05). Binary logistic stepwise regression analysis showed that the preoperative mechanical ventilation ( OR=18.154, 95% CI 3.971-82.990, P<0.001) and postoperative ventilator-associated pneumonia ( OR=36.942, 95% CI 1.307-1043.985, P=0.034) were independent risk factors for first weaning failure after mandibular distraction osteogenesis, while birth weight gain ( OR=0.225, 95% CI 0.076-0.668, P=0.007) was a protective factor for first weaning failure ( P<0.05). Conclusions:Preoperative mechanical ventilation and postoperative ventilator-associated pneumonia are independent risk factors and birth weight gain is a protective factor for first weaning failure following mandibular distraction osteogenesis in pediatric patients with PRS.

The airway management and treatment of newborns with micrognathia and laryngomalacia / 临床耳鼻咽喉头颈外科杂志

Objective:To explore the perioperative airway management and treatment of newborns with micrognathia and laryngomalacia. Methods:From January to December 2022, a total of 6 newborns with micrognathia and laryngomalacia were included. Preoperative laryngoscopy revealed concomitant laryngomalacia. These micrognathia were diagnosed as Pierre Robin sequences. All patients had grade Ⅱ or higher symptoms of laryngeal obstruction and required oxygen therapy or non-invasive ventilatory support. All patients underwent simultaneous laryngomalacia surgery and mandibular distraction osteogenesis. The shortened aryepiglottic folds were ablated using a low-temperature plasma radiofrequency during the operation. Tracheal intubation was maintained for 3-5 days postoperatively. Polysomnography（PSG） and airway CT examination were performed before and 3 months after the surgery. Results:Among the 6 patients, 4 required oxygen therapy preoperatively and 2 required non-invasiveventilatory support. The mean age of patients was 40 days at surgery. The inferior alveolar nerve bundle was not damaged during the operation, and there were no signs of mandibular branch injury such as facial asymmetry after the surgery. Laryngomalacia presented as mixed type: type Ⅱ+ type Ⅲ. The maximum mandibular distraction distance was 20 mm, the minimum was 12 mm, and the mean was 16 mm. The posterior airway space increased from a preoperative average of 3.5 mm to a postoperative average of 9.5 mm. The AHI decreased from a mean of 5.65 to 0.85, and the lowest oxygen saturation increased from a mean of 78% to 95%. All patients were successfully extubated after the surgery, and symptoms of laryngeal obstruction such as hypoxia and feeding difficulties disappeared. Conclusion:Newborns with micrognathia and laryngomalacia have multi-planar airway obstruction. Simultaneous laryngomalacia surgery and mandibular distraction osteogenesis are safe and feasible, and can effectively alleviate symptoms of laryngeal obstruction such as hypoxia and feeding difficulties, while significantly improving the appearance of micrognathia.

Respiratory sleep disorders, nasal obstruction and enuresis in children with non-syndromic Pierre Robin sequence / Desordens respiratórias do sono, obstrução nasal e enurese em crianças com sequência de Pierre Robin não sindrômica

Abstract Introduction Obstructive sleep apnea is highly prevalent in non-syndromic Pierre Robin sequence patients. Studies have found a probable relationship between obstructive sleep apnea and nasal obstruction and between obstructive sleep apnea and enuresis. Assessment of the relationship between these variables in non-syndromic Pierre Robin sequence patients is scarce. Objective The present study aims to evaluate the relationship between symptoms of obstructive sleep apnea, nasal obstruction and enuresis, determining the prevalence of symptoms suggestive of these conditions, in schoolchildren with non-syndromic Pierre Robin sequence, and describe the prevalence of excessive daytime sleepiness habitual snoring and voiding dysfunction symptoms associated with enuresis. Methods This was a prospective analytical cross-sectional study developed at a reference center. Anthropometric measurements and a structured clinical interview were carried out in a sample of 48 patients. The instruments "sleep disorders scale in children" "nasal congestion index questionnaire" (CQ-5), and the "voiding dysfunction symptom score questionnaire" were used. Statistical analysis was performed for p< 0.05. Results Positive "sleep disorders scale in children" scores for obstructive sleep apnea and CQ-5 for nasal obstruction were observed in 38.78% and 16.33%, respectively. Enuresis was reported in 16.33% of children, being characterized as primary in 71.43% and polysymptomatic in 55.55%; according to the "voiding dysfunction symptom score questionnaire". There was a significant relationship between nasal obstruction and obstructive sleep apnea symptoms (p< 0.05), but no significance was found between obstructive sleep apnea symptoms and enuresis, and between nasal obstruction and enuresis. The prevalence of excessive daytime sleepiness was 12.24% and of habitual snoring, 48.98%. A family history of enuresis, younger age in years and a positive "voiding dysfunction symptom score questionnaire" score were associated with a higher prevalence of enuresis (p< 0.05). Conclusion Children with non-syndromic Pierre Robin sequence are at high risk for obstructive sleep apnea symptoms and habitual snoring, with a correlation being observed between nasal obstruction and obstructive sleep apnea symptoms. In addition, the study showed that non-syndromic Pierre Robin sequence, obstructive sleep apnea and nasal obstruction symptoms were not risk factors for enuresis in these patients.

Resumo Introdução A apneia obstrutiva do sono apresenta elevada prevalência na população com sequência de Pierre Robin não sindrômica. Estudos constataram provável relação entre apneia obstrutiva do sono e obstrução nasal e entre apneia obstrutiva do sono e enurese, é escassa a avaliação da relação entre essas variáveis na sequência de Pierre Robin não sindrômica. Objetivo Avaliar a relação entre sintomas de apneia obstrutiva do sono, obstrução nasal e enurese, determinar a prevalência de sintomas sugestivos dessas condições, em crianças em idade escolar com sequência de Pierre Robin não sindrômica, assim como descrever a prevalência de sonolência excessiva diurna, ronco habitual e sintomas de disfunção miccional associados à enurese. Método Estudo prospectivo transversal analítico desenvolvido em centro de referência. Fez‐se aferição antropométrica e entrevista clínica estruturada em amostra de 48 pacientes. Os instrumentos usados foram: "escala de distúrbios do sono em crianças", questionário "índice de congestão nasal" (CQ‐5) e questionário "sistema de escore de disfunção miccional". A análise estatística foi feita para p < 0,05. Resultados Escores positivos da "escala de distúrbios do sono em crianças" para apneia obstrutiva do sono e do CQ‐5 para obstrução nasal foram observados em 38,78% e 16,33%; respectivamente. Enurese foi relatada em 16,33% das crianças e foi caracterizada como primária em 71,43% e polissintomática em 55,55%; conforme "sistema de escore de disfunção miccional". Observou‐se relação significante entre obstrução nasal e sintomas de apneia obstrutiva do sono (p < 0,05), porém não significante entre sintomas de apneia obstrutiva do sono e enurese, e obstrução nasal e enurese. A prevalência de sonolência excessiva diurna foi de 12,24% e de ronco habitual, de 48,98%. História familiar de enurese, menor idade em anos e escore positivo na "sistema de escore de disfunção miccional" foram associados a maior prevalência de enurese (p < 0,05). Conclusão Crianças com sequência de Pierre Robin não sindrômica estão sob alto risco para sintomas de apneia obstrutiva do sono e ronco habitual, foi observada correlação entre obstrução nasal e sintomas de apneia obstrutiva do sono. Demonstrou‐se, também, que sequência de Pierre Robin não sindrômica, sintomas de apneia obstrutiva do sono e obstrução nasal não constituíram fator de risco para enurese na população estudada.

Secuencia malformativa de Pierre Robin / Pierre Robin's malformative sequence

RESUMEN Introducción: La secuencia malformativa de Pierre Robin se caracteriza clínicamente por micrognatia, glosoptosis, obstrucción de la vía aérea superior y con frecuencia fisura palatina, donde se pone en riesgo la vida del neonato. Objetivo: Presentar un caso de un recién nacido con diagnóstico de la secuencia de Pierre Robin atendido en el Hospital Universitario Gineco-Obstétrico Mariana Grajales de la ciudad de Santa Clara, Cuba. Caso clínico: Paciente femenino de piel blanca a término y bajo peso, se constató en la exploración física neonatal marcado micrognatismo y retrogmatismo, al examen bucal se observó glosoptosois y fisura del paladar, patrón dismórfico propio de la secuencia malformativa de Pierre Robin. Se indicó tratamiento conservador mediante el reposo en decúbito prono y alimentación enteral por biberón en posición semisentada, colocación de obturador palatino y seguimiento en consulta por las especialidades involucradas. Con una evolución satisfactoria fue egresado del centro hospitalario. Conclusiones: Con un tratamiento conservador y la participación interdisciplinaria de distintas especialidades médicas y estomatológicas, se logró un resultado satisfactorio en el neonato.

ABSTRACT Introduction: The Pierre Robin's malformative sequence is clinically characterized by micrognathia, glossoptosis, upper airway obstruction and frequently cleft palate, which can be life-threatening. Objective: To present a case of a newborn diagnosed with the Pierre Robin's malformative sequence attended at the Mariana Grajales Gyneco-Obstetric University Hospital of the Villa Clara province. Case report: A white female patient, term and low weight was attended. A marked micrognathism and retrogmatism is observed in neonatal physical examination, oral examination showed glossoptosis, and palatine fissure, dysmorphic pattern typical of Pierre Robin's malformative sequence. The neonate was evaluated by different specialties. Conservative treatment was indicated through the prone position and enteral bottle feeding in a semi-seated position, placement of palatal plate and follow-up by consultation of the specialities involved. The patient left the hospital with a satisfactory evolution. Conclusions: With conservative treatment and interdisciplinary participation of different medical and dentistry specialties a satisfactory result is achieved in the neonate.

Management and Outcome of a Neurologically Intact Infant with Pierre Robin Sequence and Dandy-Walker Variant Diagnosed with Large Hemispheric Brain Abscess ­ Case Report

Pierre Robin sequence (PRS) is a condition consisting of three essential components: micrognathia or retrognathia, cleft palate, and glossoptosis. It can be part of multiple congenital anomalies. We present the case and outcome of a 3-month-old clinically stable patient who has PRS with Dandy-Walker variant ­ which is a rare presentation in the literature ­ with a large right hemispheric brain abscess, treated with multiple minimally-invasive surgical drainage procedures with adjuvant antibiotics.

Perioperative evaluation and management of neonates with Pierre-Robin sequence / 中华实用儿科临床杂志

Objective:To summarize the clinical characteristics of neonates with Pierre-Robin sequence (PRS) who received mandibular distraction osteogenesis (MDO), in order to provide a basis for perioperative evaluation and management.Methods:Data of neonates diagnosed with PRS and receiving MDO in the Department of Neonatology, Guangzhou Women and Children′s Medical Center between December 2016 and December 2019 were collected for a retrospective study.According to the types of respiratory support needed before surgery, they can be categorized into 3 groups: the invasive ventilation group, the noninvasive ventilation group, the oxygen therapy/positioning therapy group.According to the usage of sedative and analgesic drugs after surgery, they were categorized into 2 groups: the sedative-analgesic group(Fentanyl Citrate and Midazolam) and the single sedative group(Midazolam alone).Results:A total of 31 children were admitted, 22 cases of whom received MDO at an age of (22.09±8.42) d, including 11 cases in the invasive ventilation group, 5 cases in the non-invasive ventilation group, and 6 cases in the therapy/positioning therapy group before surgery; there was statistical significance in severe respiratory distress (81.8% vs.60.0% vs.0) and feeding difficulties (100.0% vs.80.0% vs.50.0%) among the 3 groups (all P<0.05), while there was no difference in laryngomalacia rate(63.6% vs.20.0% vs.33.3%), non-gain in weight before surgery(81.8% vs.80.0% vs.66.7%), postoperative ventilation duration[(7.5±3.4) d vs.(7.2±5.3) d vs.(6.9±4.1) d]and hospital stay[(36.3±9.3) d vs.(34.1±0.3) d vs.(33.8±7.5) d] (all P>0.05). Among these 22 patients, there were 9 cases in the sedative-analgesic group, and 13 cases in the single sedative group.Compared with the single sedative group, cases in the sedative-analgesic group had significantly lower extubation rate (0 vs.15.4%) and shorter hospital stay[(32.3±5.2) d vs.(39.8±7.3) d], and the difference were statistically significant (all P<0.05). Besides, there were no differences in postoperative ventilation duration[(7.4 ± 3.9) d vs.(7.6 ± 4.2) d]between both groups ( P>0.05). The postoperative remission rate of airway obstruction was 100%. Conclusions:MDO in children in their neonatal period could achieve favorable efficacy.The duration of postoperative ventilator support and hospital stay in children with severe airway obstruction could not be prolonged compared with children with mild obstruction, and postoperative sedation and analgesic management can reduce the extubation rate.

Manejo de secuencia de Pierre Robin con distracción externa mandibular y palatoplastia de incisiones mínimas / Managment of Pierre Robin Sequence with external mandibular distraction and palatoplasty of minimal incisions

Antecedentes. La secuencia de Pierre Robin es una patología poco frecuente y entendida en la literatura latinoamericana . La incidencia en el mundo es variable y en Latinoamerica no existen cifras exactas. La etiopatogenia es poco clara y aminorar y manejar las complicaciones respiratorias constituyen un objetivo primordial en el tratamiento de estos pacientes. El objetivo de este artículo es presentar el manejo del Pierre Robin en nuestro Servicio desde un punto de vista íntegro presentando un caso ejemplo. Presentación de caso. Masculino de 9 meses con diagnóstico de Pierre Robin, quien fue tratado con distractores mandibulares y retiro de los mismos tres meses después, con una excelente evolución posoperatoria. Posterior a esto, se realizó una palatoplastia sin complicaciones, con excelentes resultados respiratorios a los 6 meses de seguimiento. Conclusiones. El manejo del síndrome de Pierre Robin es un desafío para el cirujano plástico, con muchas opciones quirúrgicas disponibles, pero la distracción mandibular es actualmente la técnica que tiene mejores resultados confirmados para los parámetros respiratorios a largo plazo.

Background. Pierre Robin's sequence is a rare pathology. The incidence in the world is variable and in Latin America is unknown. The etiopathogenesis is unclear and respiratory complications are a challenge for surgical treatment. The objective of this article is to present the management of Pierre Robin from an integrative point of view through a case presentation. Case presentation. 9 month old male with Pierre Robin diagnosis who was treated with mandibular distractors with subsequent removal 3 months later with excellent postoperative evolution. Later on, a la palatoplasty was performed with no complications, with good respiratory injuries function at 6 month follow up. Conclusions. The management of Pierre Robin syndrome is a challenge for the plastic surgeon, with many surgical options available, with mandíbular distraction currently being the technique of choice because of its confi rmed favorable long term respiratory results

Pierre Robin sequence: airway management via mandibular distraction: case report / Secuencia de Pierre Robin: manejo de vía aérea mediante distracción ósea mandibular: reporte de caso

Pierre Robin sequence is a set of congenital conditions characterized by the presence of micrognathia, glossoptosis, cleft palate and obstruction of the airways. The latter can lead to many other complications such as respiratory difficulties, apnea, weight loss and even death. Currently, mandibular distraction, or the lengthening of the mandibular bone, is the most common surgical procedure used to correct a retracted tongue and the airway obstruction it produces in patients with mandibular hypoplasia. The present paper reports the case of a 26-day-old male patient, who presented obstruction on the upper respiratory tract, mandibular retromicrognathia, and retracted tongue and cleft palate, all conditions characteristic to Pierre Robin sequence. The patient also had a medical record of orotracheal intubation due to respiratory difficulties. The subject underwent mandibular distraction surgery with a horizontal vector, which resulted in a satisfactorily cleared airway.

La secuencia de Pierre Robin es una afección congénita caracterizada por la presencia de micrognatia, glosoptosis, paladar hendido y obstrucción de la vía aérea, siendo ésta una de las principales características de la cual derivan varias complicaciones, entre ellas, dificultad respiratoria, apnea, pérdida de peso y hasta la muerte. En la actualidad la distracción ósea mandibular es la técnica quirúrgica de elección, que tiene como finalidad el alargamiento mandibular corrigiendo la posición posterior de la lengua, con la consecuente desobstrucción de la vía aérea en pacientes con hipoplasia mandibular. Se reporta caso clínico de paciente masculino con 26 días de nacido, que presentó obstrucción de la vía aérea superior, retromicrognatismo mandibular, retracción de la lengua y hendidura palatina, relacionado con la secuencia de Pierre Robin, con antecedentes de intubación orotraqueal por dificultad respiratoria, al cual se le realizó distracción ósea mandibular con vector horizontal, destacando resultados satisfactorios en la resolución de la obstrucción de la vía aérea.

"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.

Síndrome de Ohtahara: presentación de un caso asociado a Síndrome de Pierre Robin / Ohtahara syndrome: a case presentation associated with Pierre Robin syndrome

RESUMEN El Síndrome de Ohtahara es una encefalopatía epiléptica de inicio temprano en la vida, caracterizada por convulsiones intratables, trazado de ondassupresión, tanto en etapa de sueño como vigilia en electroencefalograma, y asociado a retraso en el desarrollo motor y cognitivo. Se presenta el caso de un niño, derivado a los quince días de vida al Hospital Nacional, Paraguay, para descartar cardiopatía congénita, debido a la dependencia de oxígeno. Al ingreso se constata aspecto facial coincidente con el síndrome de Pierre Robin, estridor laríngeo, hipotonía cervical y micropene. Internado se descarta cardiopatía congénita con ecocardiografía. Se asume dificultad respiratoria y necesidad de oxígeno secundarios a obstrucción respiratoria por glosoptosis. Ecografía transfontanelar revela hemorragia intraventricular grado II, imagen quística en fosa posterior, megacisterna versus quiste neuroepitelial. A los 47 días presenta convulsiones tónico-clónicas en miembros y posición de opistótonos, es medicado con AcidoValproico, luego Vigabatrina, sin respuesta. Trazado electroencefalográfico muestra patrón de descargas-supresión. Desarrolla infección asociada a cuidados de la salud con foco respiratorio, presenta mal manejo de secreciones y evolución tórpida, falleciendo a los 110 días. El caso se destaca por presentarse síndrome epiléptico en un paciente con fenotipo correspondiente al síndrome de Pierre Robin; pero que además tiene micropene. La presencia de las tres características citadas no pudo ser englobada dentro de un síndrome descripto con anterioridad. En recién nacidos con dismorfia y síndrome convulsivo es importante descartar la presencia de alteración estructural en el sistema nervioso como responsable del síndrome.

ABSTRACT Ohtahara syndrome is an epileptic encephalopathy that starts early in life, characterized by intractable seizures, wave-suppression tracing, both in the sleep and a waking phases of the electroencephalogram, and associated with delayed motor and cognitive development. We present the case of a child, to the fifteen days of life referred to the Hospital Nacional, Paraguay, with is the days of like to rule out congenital heart disease, due to oxygen dependence. On admission, the facial appearance was coincident with Pierre Robin syndrome, laryngeal stridor, cervical hypotonia and micropenis was observed. Once admitted congenital heart disease was excluded by echocardiography. Respiratory failure and need for oxygen secondary to respiratory obstruction due to glossoptosis are assumed. Transfontanelar ultrasound reveals grade II intraventricular hemorrhage, cystic image in the posterior fossa, megacisternal versus neuroepithelial cyst. At 47 days, he presented tonic-clonic seizures in the limbs opisthotonos and position of, he was treated with valproic acid, then Vigabatrina, with no response. Electroencephalographic trace shows discharge-suppression pattern. Develops infection associated with health care from respiratory origen, presents poor management of secretions and torpid evolution, dying at 110 days. The case is characterized by epileptic syndrome in a patient with a phenotype corresponding to Pierre Robin syndrome; but also has micropene. The presence of the three mentioned fatures could not be included in a previously described syndrome. In newborns with dysmorphia and seizures it is important to rule out the presence of structural alteration in the nervous system as responsible for the syndrome.

Síndrome de Pierre Robin associada à Síndrome de Duane familiar do tipo III / Pierre Robin Syndrome associated with type III familial Duane Retraction Syndrome

Resumo A síndrome de Pierre Robin (PRS) consiste em uma tríade de anomalias caracterizada por micrognatia, glossoptose e fissura de palato, comumente associada com outras síndromes e ocasionalmente com alterações oculares. Na Síndrome de Duane (DRS), há uma falha na inervação do reto lateral pelo VI nervo, com inervação anômala do reto lateral por fibras do III nervo. Ainda que a PRS já tenha sido associada com mais de 50 outras síndromes, não existe na literatura relato de casos de associação com a DRS familiar. Dessa forma, esse trabalho tem por objetivo relatar um caso dessa associação em um paciente de 29 anos com recorrência das síndromes na família.

Abstract The Pierre Robin Syndrome (PRS) consists of a triad of anomalies characterized by micrognathia, glossoptosis and fissure of the palate, usually associated with other syndromes e occasionally associated with ocular variations. In Duane Retraction Syndrome (DRS), there is a failure in the lateral rectus innervation by the VI cranial nerve, with anomalous innervation of the lateral rectus by fibers of the III nerve. Even though PRS has already been associated with more than 50 other syndromes, there is not any report in literature of association with familial DRS. Thus, this work aims to report a case of this association in a 29 years old patient with recurrence of the syndromes in the family.

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.

Efficacy of nasotracheal intubation for airway management in neonates with Pierre Robin sequence undergoing surgery with general anesthesia / 中华麻醉学杂志

Objective To evaluate the efficacy of nasotracheal intubation for airway management in neonates with Pierre Robin sequence undergoing surgery with general anesthesia. Methods Sixty full-term neonates of both sexes with Pierre Robin Sequence, aged 2-28 days, weighing 2. 4-3. 8 kg, scheduled for elective mandibular distraction osteogenesis, were divided into 2 groups ( n=30 each) using a random num-ber table method: nasotracheal intubation group (group N) and orotracheal intubation group (group O). Combined intravenous-inhalational anesthesia was used during surgery. The success rate of intubation, intu-bation time, heart rate, mean arterial pressure and SpO2 during intubation, and occurrence of complica-tions during intubation were recorded, and the time of extubation and occurrence of complications after extu-bation were also recorded. Results Compared with group O, the intubation time was significantly short-ened, the first-time intubation success rate was increased, the heart rate and mean arterial pressure were decreased at 2 min after intubation, the lowest SpO2 was increased during intubation, and the incidence of pharyngeal soft tissue injury during intubation and hoarseness after extubation was decreased in group N ( P<0. 05) . Conclusion Nasotracheal intubation can be used for airway management in neonates with Pierre Robin sequence undergoing surgery under general anesthesia, and the efficacy is superior to that of orotra-cheal intubation.

Analysis of anatomical characteristics of upper airway in Pierre Robin sequence pediatric patients with difficult laryngoscopy: computed tomography-based three-dimensional reconstruction / 中华麻醉学杂志

Objective To analyze the anatomical characteristics of the upper airway in Pierre Robin sequence pediatric patients with difficult laryngoscopy using the computed tomography-based three-dimensional reconstruction.Methods Fifty pediatric patients of both sexes with Pierre Robin sequence,aged 10-101 days,weighing 2.0-6.3 kg,of American Society of Anesthesiologists physical status Ⅲ,scheduled for elective mandibular distraction osteogenesis under general anesthesia,were enrolled in this study.Cone beam CT scan was performed to obtain upper airway anatomy information during the natural sleep before operation.Images were imported into medical engineering software MIMICS 17.0 to reconstruct the three-dimensional images of the oral and maxillofacial bones and airways.The related anatomical parameters were measured,including the distance between the alveolar ridge of the upper central incisor and root of the epiglottis (D1),distance between the root of the epiglottis and midpoint of glottis (D2),distance between the bilateral lower edge of the mandible and midpoint of glottis (D3),distance between the alveolar ridge of the lower central incisor and the lower edge of the mandible (D4),length of the mandibular ramus (D5),length of the mandible body (D6),and length of the total mandible (D7),angle between lines D1 and D2 (angle 1),the angle between line D2 and the alveolar ridge of the upper central incisor to the midpoint of glottis (angle 2),the angle between lines D3 and D4 (angle 3),the angle of the point of the upper central incisor alveolar ridge to the trailing edge of the hard palate and then to the root of epiglottis (angle 4),the angle of bilateral mandible (angle 5),the angle of the point of gnathion to the two gonions (angle 6),the airway cross-sectional area at the tip of epiglottis,volume of oral cavity,volume of velopharyngeal cavity,and volume of glossopharyngeal cavity.Fiberoptic bronchoscope-guided endotracheal intubation was performed under topical anesthesia with lidocaine.Propofol,sufentanil and cis-atracurium were intravenously injected to induce anesthesia after successful intubation,and then the pediatric patients were sent to the operating room.Anesthesia was maintained by inhalation of sevoflurane.The exposure of glottis was observed with a laryngoscope.Pediatric patients were divided into difficult laryngoscopy group (group A) and non-difficult laryngoscopy group (group B) according to whether they presented with difficult laryngoscopy (Cormack-Lehane classification Ⅲ or Ⅳ).Results Compared with group B,the airway cross-sectional area at the tip of epiglottis and in the volume of velopharyngeal cavity were decreased (P＜0.05),and no significant change was found in D1,D2,D3,D4,D5,D6,D7,angle 1,angle 2,angle 3,angle 4,angle 5,angle 6,volume of oral cavity or volume of glossopharyngeal cavity in group A (P＞0.05).Conclusion The three-dimensional CT images of the upper airway show characteristic changes in Pierre Robin sequence pediatric patients with difficult laryngoscopy,and the main manifestations are the decrease in the airway section area and in the volume of the palatopharyngeal cavity at the tip of the epiglottis.

Effect of mandibular distraction osteogenesis on quality of life in children with Pierre-Robin sequence / 中华整形外科杂志

Objective@#To explore the impact role of Mandibular Distraction Osteogenesis technique (MDO) on the health quality of life in children with Pierre-Robin Sequence (PRS).@*Methods@#From January 2017 to August 2017, 44 cases of children with PRS admitted in children′s hospital of Nanjing Medical University were recruited. Glasgow Children′s benefit inventory(GCBI), Chinese version was used to study postoperative qualify of life in four aspects: physiology, emotions, learning, and vitality. Clinical data and the quality of life score were collected from the patients, and comparison analysis was performed.@*Results@#GCBI total score of the 44 cases of PRS treated with MDO surgery was 46, indicating that the overall quality of life was improved; Physical dimension score was 72, which was the highest, showing the most positive changes. GCBI total scores for the children with different types of PRS were type Ⅰ62, type Ⅱ43, type Ⅲ18, respectively. Nonparametric test showed that quality of life in typeⅠpatients was improved compared to typeⅢ. The difference was statistically significant (Z = -3.34, P=0.01). For the comparisons between type Ⅰ and Ⅱ and type Ⅱ and type Ⅲ, there was no statistically significant difference (P>0.05).@*Conclusions@#MDO plays a positive role in improving life of quality . Physiological conditions were the aspects that were improved most. The milder the case is, the more the postoperative quality of life is improved.

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.

Male individuals with Robin Sequence: emerging significant association with ABO and RhD blood group phenotypes

ABSTRACT Background: This study investigated the association of Robin Sequence with ABO and RhD blood group phenotypes. Methods: A retrospective cross-sectional study was performed of a cohort of Robin Sequence patients of the Hospital de Reabilitação de Anomalias Craniofaciais - Universidade de São Paulo (USP), Brazil. The study group was composed of 339 individuals of both genders with Robin Sequence referred for specific treatment. A control group was composed of 1780 individuals without syndromes. The groups were compared using the Pearson' chi-square test (χ 2) with statistical significance being defined for an alpha error of 5% (p-value < 0.05). Results: A comparison of gender found a significant difference for the AB phenotype between groups (p-value = 0.007). Comparing blood type by gender there was no significant difference within the same group (p-value = 0.117 and 0.388 respectively, for Robin Sequence and the control group). When comparing the AB blood type between groups, there was no difference for females (p-value = 0.577), but there was a significant difference for males (p-value = 0.0029). Conclusions: This study showed that the population with Robin Sequence had different patterns related to gender concerning the phenotypic distribution of ABO and RhD blood group phenotypes. Robin Sequence is more common among females. The AB phenotype was significantly higher in males with Robin Sequence than in males of the Control Group. The prevalence of the RhD-negative phenotype is higher in individuals with Robin Sequence. This result suggests a possible association of ABO and RhD phenotypes with Robin Sequence that should be better investigated by molecular studies, as it deserves greater attention.