RESUMO
Abstract Escobar syndrome is a rare, autosomal recessive disease of unknown incidence. It is characterized by multiple skeletal, genitourinary and orofacial abnormalities. The multiple malformations (mainly orofacial) and restricted mobility of these patients pose a challenge to the anesthesia team, especially as regards airway management. We describe the clinical case of a pediatric patient diagnosed with Escobar syndrome who underwent two consecutive anesthesia interventions, with evidence of progressive airway anomalies that characterize this syndrome. The case required adaptation, according to the clinical stage of the disease, of the current algorithms used to approach an anticipated difficult airway in pediatrics, and the incorporation of new devices, not described so far in patients with this pathology, as part of the planning and execution phases.
Resumen El síndrome de Escobar es una enfermedad rara, autosómica recesiva, de incidencia desconocida. Se caracteriza por múltiples anomalías esqueléticas, genitourinarias y orofaciales. Las múltiples malformaciones (principalmente orofaciales) y la restricción de la movilidad de estos pacientes determinan un desafío para el equipo anestésico, especialmente en el manejo de la vía aérea. Se describe el caso clínico de una paciente pediátrica con diagnóstico de síndrome de Escobar que fue sometida a dos anestesias consecutivas, en el que se evidencia una progresión de las anomalías de la vía aérea propias del síndrome, por lo que se requiere adecuar, según el estadío clínico de la enfermedad, los algoritmos actuales de abordaje de vía aérea difícil pediátrica anticipada y la incorporación de nuevos dispositivos en la planificación y ejecución para su manejo que no han sido descritos en pacientes con esta patología.
RESUMO
This case report intends to provide the facial characteristics of Escobar syndrome and to describe the orthodontic treatment of a 12-year-old female patient diagnosed with it. Escobar syndrome, a variant of the multiple pterygium syndrome, is a rare disorder with many systemic, facial, and oral manifestations.The patient presented with mixed dentition, severe dolichofacial pattern, increased lower facial height, convex profile, severe anterior open bite, maxillary hypoplasia, and mandibular retrognatism. The multidisciplinary approach included soft cleft palate repair, orthodontic treatment, orthognathic surgery, restorative cosmetic dentistry, speech therapy, and physiotherapy. Despite the limitations imposed by the syndrome, this report illustrates how the multidisciplinary treatment approach aided in the correction of occlusal function and facial esthetics and improvement in the quality of life of the patient with Escobar syndrome.
Assuntos
Anormalidades Múltiplas , Fissura Palatina , Hipertermia Maligna , Qualidade de Vida , Anormalidades da Pele , Anormalidades Múltiplas/cirurgia , Criança , Fissura Palatina/cirurgia , Estética Dentária , Feminino , Seguimentos , Humanos , Hipertermia Maligna/cirurgia , Aparelhos Ortodônticos , Anormalidades da Pele/cirurgiaRESUMO
Resumen: Antecedentes: El síndrome de Escobar o de pterigium múltiple en su variante no letal es una entidad con tipo de herencia autosómica recesiva ligada al cromosoma X; se caracteriza por presentar múltiples pterigiones -de ahí su nombre-, principalmente localizados en cuello (95%) y axilas (55%), así como otras malformaciones de tipo ortopédico como astrágalo vertical, luxación congénita de cadera y escoliosis congénita. Objetivo: Dar a conocer una técnica quirúrgica opcional para el manejo de deformidades vertebrales severas en pacientes con este síndrome. Caso clínico: Femenina de 12 años de edad con diagnóstico de síndrome de Escobar con escoliosis severa que condiciona malformaciones de la caja torácica con compromiso pulmonar, produciendo restricción de la mecánica ventilatoria e incrementando el riesgo de infección severa de vías aéreas inferiores. Se realiza instrumentación posterior con manos libres y sistema PASS LP más osteotomías de Smith-Petersen. Conclusiones: Mejora del ángulo de Cobb de 62° a 23°, así como del balance sagital de 125 mm a 73 mm.
Abstract: Background: The non-lethal variant of the Escobar or multiple pterygium syndrome is an entity of autosomal recessive inheritance linked to the X chromosome; it is characterized by multiple pterygia (hence its name) located mainly in the neck (95%) and armpits (55%), as well as other orthopedic malformations such as a vertical talus, congenital hip dislocation, and congenital scoliosis. Objective: To present an optional surgical technique for the management of severe spinal deformities. Case report: Twelve-year-old female diagnosed with Escobar syndrome with severe scoliosis which conditions malformations of the chest with lung involvement, producing mechanical ventilatory restriction and increasing the risk of severe lower respiratory tract infection. We performed a hands-free posterior instrumentation with PASS LP system and Smith-Petersen osteotomies. Conclusions: The Cobb angle improved from 62° to 23° and the sagittal balance from 125 mm to 73 mm.
Assuntos
Humanos , Feminino , Criança , Escoliose/cirurgia , Escoliose/etiologia , Anormalidades da Pele/complicações , Fusão Vertebral , Anormalidades Múltiplas , Hipertermia Maligna/complicações , Resultado do TratamentoRESUMO
BACKGROUND: The non-lethal variant of the Escobar or multiple pterygium syndrome is an entity of autosomal recessive inheritance linked to the X chromosome; it is characterized by multiple pterygia (hence its name) located mainly in the neck (95%) and armpits (55%), as well as other orthopedic malformations such as a vertical talus, congenital hip dislocation, and congenital scoliosis. OBJECTIVE: To present an optional surgical technique for the management of severe spinal deformities. CASE REPORT: Twelve-year-old female diagnosed with Escobar syndrome with severe scoliosis which conditions malformations of the chest with lung involvement, producing mechanical ventilatory restriction and increasing the risk of severe lower respiratory tract infection. We performed a hands-free posterior instrumentation with PASS LP system and Smith-Petersen osteotomies. CONCLUSIONS: The Cobb angle improved from 62° to 23° and the sagittal balance from 125 mm to 73 mm.
El síndrome de Escobar o de pterigium múltiple en su variante no letal es una entidad con tipo de herencia autosómica recesiva ligada al cromosoma X; se caracteriza por presentar múltiples pterigiones de ahí su nombre, principalmente localizados en cuello (95%) y axilas (55%), así como otras malformaciones de tipo ortopédico como astrágalo vertical, luxación congénita de cadera y escoliosis congénita.