Clinical Manifestations and Surgical Management of Spinal Lesions in Patients With Mucopolysaccharidosis: A Report of 52 Cases.

STUDY DESIGN: Descriptive retrospective cohort of 52 pediatric patients with mucopolysaccharidosis (MPS) and spinal cord disease and surgical outcomes in a reference hospital. OBJECTIVES: To describe clinical manifestations and surgical management and outcomes of spinal lesions. METHODS: All medical records of 52 patients with mucopolysaccharidosis (I, II, III, IV, and VI) diagnosed between 1992 and 2011 were identified and followed at a single spine center of a pediatric hospital. Demographic, clinical manifestations, spinal cord lesions, and surgical management were the focus of the descriptive report. RESULTS: A total of 52 patients (32 males and 20 females), mean age at diagnosis of 8 ± 4 years (range 1-19), and with a mean follow-up of 11 ± 8 years were identified. Forty-three had cervical disease (the most frequent affection found was odontoid hypoplasia followed by atlantoaxial instability) and 14 patients had thoracolumbar kyphosis. Twenty-one patients presented neurologic compromise before surgery (quadriparesis as the most frequent manifestation), with the progression of neurologic impairment being the most common surgical indication. Surgery was performed in 38 patients (25 cervical and 13 thoracolumbar). Of the 21 patients with preoperative neurologic deficit, 6 patients showed neurologic improvement. The most common surgical complication found was proximal junctional kyphosis. CONCLUSION: This is the largest series published of mucopolysaccharidosis pediatric patients with a surgically treated spinal condition. We recommend early spinal cord decompression in mucopolysaccharidosis spine pathology to prevent or potentially reverse neurologic impairment. LEVEL OF EVIDENCE: Level IV.

Sotos syndrome and scoliosis surgical treatment: a 10-year follow-up.

Sotos syndrome is caused by a gene deletion with an autosomal dominant pattern of inheritance. Cerebral gigantism, hypotonia and joint hyperextensibility are characteristic features of this syndrome. A percentage of these patients develop progressive scoliosis early in life. In the literature, few studies on the evolution of scoliosis in Sotos syndrome have been published. We retrospectively evaluated eight patients diagnosed with Sotos syndrome and scoliosis treated at the Garrahan Children Hospital between 1988 and March 2009. Clinical charts and imaging studies were assessed. Eight patients (19%) presented with scoliosis and seven of them (87.5%) required surgical treatment. The mean follow-up was 9.5 years (range 3-18). Mean age at first consultation was 5.2 years (range 1.1-11.2). Mean Cobb angle for scoliosis at first consultation was 34.3° (range 20°-42°) and the mean Cobb angle for kyphosis was 45.6° (range 30°-90°). Mean age at surgery was 11.2 years (range 3.7-18.10). The surgical procedures performed were instrumented posterior arthrodesis, alone or combined with anterior arthrodesis, instrumented anterior arthrodesis, while one patient is currently in treatment with growing rods. Preoperative mean Cobb angle for scoliosis was 72.3° (range 54°-130°) and for kyphosis was 59.8° (range 30°-108°); postoperative mean Cobb angle for scoliosis was 45.5° (range 6°-90°) and for kyphosis was 40.2° (range 30°-80°). There were three early complications (pleural effusion in two cases and death due to sepsis in one) and two late complications (kyphosis above the instrumentation area and dislodgement of the proximal hooks). Incidence of scoliosis in Sotos syndrome is high and thus close monitoring of patients with Sotos syndrome during growth is important for early detection of this entity. Joint hyperextensibility and hypotonia that are characteristic of the syndrome should be considered at the moment of surgery to avoid short fusions.

Toracotomia posterior: dupla abordagem vertebral torácica com incisão única / Toracotomía posterior: doble abordaje vertebral torácico con incisión única / Posterior thoracotomy: a two-step spinal thoracic approach

INTRODUCCIÓN: durante los últimos diez años, hemos utilizado la toracotomía posterior para abordar la porción superior del tórax en procedimientos combinados anteriores y posteriores. Actualmente hemos extendido esta indicación a toda la columna torácica en remplazo de la toracotomía convencional y toracoscopía. OBJETIVO: evaluar el rango de posibilidades y complicaciones asociadas con este nuevo abordaje, que permite combinar la cirugía vertebral torácica anterior y posterior con la misma incisión cutánea posterior. Métodos: fueron evaluados, retrospectivamente, 35 pacientes operados entre los años del 2003 y 2007. En todos se realizó doble abordaje, combinando una toracotomía posterior y abordaje posterior, mediante una sola incisión medial, para diferentes objetivos: descompresión medular, artrodesis, osteotomías o vertebrectomías. Se evaluaron los valores angulares, las etiologías, la edad, los niveles vertebrales, la cantidad de toracotomías y las complicaciones. RESULTADOS: hubo un promedio de edad de 14,1 años (1-65), diez cifosis, valor promedio 96,8 (76-131); 24 escoliosis valor promedio 80 (60-105). Etiología: síndromes genéticos, 11; escoliosis idiopática, 6; neurológicas, 5; congénitas, 4; tumores, 4; fracturas, 2; hernia discal, 1; infección, 1. Toracotomía de 1 nivel 30 doble 5. Nivel superior T3 e inferior T10. Complicaciones: 1 hemotórax y dos infecciones de herida. CONCLUSIÓN: esta vía permite acceder a todo nivel torácico en procedimientos combinados mediante una sola incisión cutánea.

INTRODUÇÃO: nos últimos dez anos, foi utilizada a toracotomia posterior para a abordagem da porção superior do tórax em procedimentos combinados anteriores e posteriores. Atualmente, esta indicação tem sido estendida por toda a coluna torácica ao invés da toracotomia convencional e da toracoscopia. OBJETIVO: avaliar as possibilidades e complicações associadas a esta nova abordagem, que permite combinar cirurgias em vértebras torácicas anterior e posterior com a mesma incisão cutânea posterior. Métodos: foram avaliados, retrospectivamente, 35 pacientes operados entre 2003 e 2007. Em todos eles, realizou-se dupla abordagem combinando uma toracotomia posterior e abordagem posterior, feita só uma ferida cirúrgica, para diferentes objetivos: descompressão medular, artrodese, osteotomias, ou vertebrectomias. Foram avaliadas: as magnitudes dos ângulos, a etiologia, a idade, os níveis vertebrais, a quantidade de toracotomias e as complicações. RESULTADOS: média de idade de 14,1 anos (1-65), 10 cifoses com média de 96,8º (76-131); 24 escolioses com média de 80º (60-105). Etiologia: síndromes genéticos, 11; escolioses idiopática, 6; neurológicas, 5; congênitas, 4; tumores, 4; fraturas, 2; hérnia de disco, 1; infecção, 1; toracotomia de 1; nível 30, duplo 5; nível superior t3 e inferior t10. As complicações observadas foram um paciente com hemotórax e dois com infecções por causa da ferida. CONCLUSÃO: esta via permite o acesso a todo o nível torácico em procedimentos combinados mediante só uma ferida cirúrgica.

INTRODUCTION: over the last ten years, for patients who needed a combined anterior-posterior approach, an alternative thoracotomy has been used by posterior approach using in the second step the same posterior mid-line skin incision as was used in the first step. Objective: to assess the range of possibilities and complications associated with this new approach, which allows to mix a two-step surgery through a single posterior skin incision. METHODS: thirty-five patients operated between 2003 and 2007 were evaluated. All patients underwent a two-step approach through a single posterior mid-line skin incision for spinal cord decompression, discectomy, arthrodesis, osteotomy, or vertebrectomy. The angular magnitudes, etiology, age, vertebral levels, number of thoracotomy, and complications were evaluated. RESULTS: mean age 14.1 years (1-65 years old), ten kyphosis, and 24 kyphoscoliosis. Mean scoliosis was 80.5º (60-105º), mean kyphosis was 96.8º (76º-131º). Etiology: genetic syndromes, 11; idiopathic scoliosis, 6; neurological, 5; congenital, 4; fractures, 2; disc herniation, 1; tumors, 4; infection, 1. Thoracotomy was single in 30 and double in 5, and highest at level T3 and lowest T10. The complications that occurred was one pleural hemorrhage and two infections of the posterior surgical wound (8.6 percent). CONCLUSION: this approach allows to accede at all the levels of thoracic previous in procedures combined through a single posterior skin incision.