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STUDY DESIGN: Systematic review. OBJECTIVE: To evaluate the lowest possible age to resect an HV in very young patients with a congenital deformity. METHODS: We sought to retrieve all studies reporting age at HV excision in patients with congenital scoliosis. Studies written in English were included. No publication date restrictions were imposed. A search of the PubMed and LiLacs databases was conducted. Additionally, a hand search was performed to supplement the database search. RESULTS: We found 140 articles. Twenty two studies were included into the final assessment. There was considerable heterogeneity in the included studies, both regarding age and the surgical techniques used. There was also a broad spectrum of recommendations regarding suggested age for treatment. The youngest patient undergoing resection and fusion was 3 months of life at the time of surgery. CONCLUSION: How young a patient could and should be submitted to HV resection surgery is still a matter of debate in the literature. Prophylactic surgery might be a proper treatment for young children with congenital scoliosis before malformation becomes a deformity, adding no additional neurological, vascular, or anesthesia-related complications. The defect can be treated early while the deformity is treated late.

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INTRODUCTION: Early hemivertebra (HV) excision and posterior spinal fusion (PSF) is advocated as the treatment of choice in congenital kyphoscoliosis. We assessed global spinal balance and spinal deformity status once the pubertal peak has taken place, in children with a history of HV excision and PSF at age younger than 5 years. METHODS: Twenty-seven children with congenital kyphoscoliosis without co-existing proximal/distal congenital spinal abnormalities who underwent HV excision and PSF of ≤ 5 levels at age younger than 5 years and who had reached the peak of puberty at the last follow-up visit were evaluated. RESULTS: Twenty-seven HV excision were performed. Mean age at surgery was 3 years and 2 months. A mean of 3.2 segments were fused. Imbalance of the trunk was observed in 80% of thoracic and 75% of thoracolumbar HV excision. No arthrodesis technique (4 cases) presented 100% of spine decompensation. All children younger than 2 years at the time of surgery developed spinal imbalance. Eighteen patients (67%) had global spine imbalance; 81% male population and 63% of the female population. Mean age at surgery was 3 years + 2 months. Mean age of the patients at the time of the study was 15 years + 5 months. Mean follow-up was 12 years + 3 months. CONCLUSION: Many of these patients developed spinal imbalance and scoliosis worsened at the final follow-up. Early age at surgery, preoperative scoliosis severity, HV location, no arthrodesis technique, and the adding-on phenomenon may be involved.

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Introducción: La hemivértebra es un raro defecto congénito de la columna vertebral fetal en la que solo se desarrolla el cuerpo vertebral de un lado, lo cual provoca su deformidad. Objetivo: Presentar un caso con diagnóstico ecográfico tridimensional prenatal de hemivértebra, como único defecto. Método: Se realizó evaluación ecográfica prenatal y examen anátomo patológico y radiológico posmortem al feto con escoliosis congénita provocado por hemivértebra. Se revisó la literatura sobre este defecto congénito, su diagnóstico prenatal y otros aspectos genéticos que deben tenerse en cuenta para el asesoramiento a la familia. Presentación de caso: Gestante de 28 años remitida a la consulta provincial de Genética Médica en la ciudad de Camagüey, Cuba, el 25 de septiembre del 2018, por sospecha ultrasonográfica de hemivértebra fetal con 20 semanas de gestación. Se confirma diagnóstico a esta instancia, mediante ultrasonografía tridimensional. Con el consentimiento familiar informado se realiza interrupción de la gestación y se comprueba el diagnóstico prenatal realizado por estudios radiológicos y anátomo patológico de la región dorso lumbar. Conclusiones: Se concluye como un defecto congénito múltiple, aislado, de posible etiología multifactorial. Se destacó el valor de la ecografía tridimensional, vista sagital coronal, como método no invasivo más empleado para el diagnóstico prenatal(AU)

Introduction: The hemivertebrae is a rare congenital defect of the fetal spine in which only the vertebral body develops on one side, resulting in deformity. Objective: To present a case with three-dimensional prenatal ultrasound diagnosis of hemivertebrae, as the only defect. Method: Prenatal ultrasound evaluation, postmortem anatomopathological and radiological examination were performed in a fetus with congenital scoliosis caused by hemivertebrae. The literature on this congenital defect, the prenatal diagnosis and other genetic aspects that should be taken into account for family counseling was reviewed. Case report: A 28-year-old pregnant woman referred to the provincial office of Medical Genetics in Camagüey, Cuba, on September 25, 2018, due to ultrasonographic suspicion of fetal hemivertebrae. She was 20 weeks of gestation. Diagnosis is confirmed by three-dimensional ultrasonography. After the informed family consent, the pregnancy was interrupted. The prenatal diagnosis was verified by radiological and pathological studies of the lumbar back region. Conclusions: It is concluded as a multiple congenital defect, isolated, of possible multifactorial etiology. The value of three-dimensional ultrasound, coronal sagittal view, was highlighted as the most commonly used, non-invasive method for prenatal diagnosis(AU)

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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.

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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.

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El tratamiento quirúrgico de las deformidades congénitas de la columna vertebral ha evolucionado en los últimos años desde fusiones in situ, hemiepifisiodesis hasta hemivertebrectomía y sustracción pedicular. En la actualidad no hay concenso cual es el procedimiento idóneo. Objetivo: Determinar la eficacia y utilidad de la Hemivertebrectomía y Sustracción Pedicular de los pacientes con Escoliosis Congénita y Cifoescoliosis. Métodos: se estudiaron 18 pacientes intervenidos en el período de enero 2013- diciembre del 2014, en un análisis estadístico retrospectivo. En 12 (66%) pacientes se realizó hemivertebrectomía y a 6 (33%) pacientes sustracción pedicular. Se evaluó edad, sexo, tipo de defecto, grado de corrección, niveles de resección y fusión, evolución neurológica, pérdida de sangre, tiempo quirúrgico y complicaciones. Resultados: se observó un ángulo de Cobb preoperatorio de 46º con escoliosis y 8 casos con ángulo de cifosis de 75º. Los porcentajes de corrección promedio de la escoliosis y la cifosis fueron 59 y 60% respectivamente, y el ángulo en el postoperatorio fue de 23º y 45º. La resección de la hemivertebra fue en un nivel (75%), dos niveles (33%). Se presentaron complicaciones en 8 pacientes, fístula de LCR, infección de la herida, pseudoartrosis, con pérdida de sangre de 528 ml, tiempo quirúrgico de 8 horas, y fusión 70%. Conclusiones: la hemivertebrectomía y la sustracción pedicular, constituyen una alternativa que permiten la corrección de la deformidad y estabilidad de la columna(AU)

Surgical treatment of congenital deformities of the spine has evolved in recent years from mergers in situ, hemiepiphysiodesis to hemivertebrectomy and pedicle subtraction. At present there is no consensus on the appropriate procedure. Objective: To determine the effectiveness and usefulness of the Hemivertebrectomía and Subtraction Pedicular of patients with congenital scoliosis and Kyphoscoliosis. Methods: in a retrospective statistical analysis 18 patients treated in the period January 2013-December 2014, were studied. In 12 (66%) patients a hemivertebrectomy was performed and a pedicle subtraction was performed on the other 6 (33%) patients. Age, sex, type of defect, degree of correction, resection and fusion levels, neurologic outcome, blood loss, operative time and complications were evaluated. Results: The preoperative Cobb angle of 46º with scoliosis and 8 cases with kyphosis angle of 75 ° were observed. The percentages of average correction of scoliosis and kyphosis were 59% and 60% respectively, and the postoperatively angle was 23º and 45º. Hemivertebra resection was on a level (75%); two levels (33%). There were complications in 8 patients, fistula LCR, wound infection, nonunion, with blood loss of 528 ml, operating time of 8 hours, and 70% merger. Conclusions: hemivertebrectomy pedicle subtraction are an alternative that allows the correction of the deformity and column stability(AU)

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