Congenital atlanto-occipital fusion and its effect on the myodural bridge: a case report utilizing the P45 plastination technique / Fusión atlanto-occipital congénita y su efecto sobre el puente miodural: reporte de un caso utilizando la técnica de plastinación P45

SUMMARY: The atlanto-occipital joint is composed of the superior fossa of the lateral masses of the atlas (C1) and the occipital condyles. Congenital Atlanto-occipital fusion (AOF) involves the osseous union of the base of the occiput (C0) and the atlas (C1). AOF or atlas occipitalization/assimilation represents a craniovertebral junction malformation (CVJM) which can be accompanied by other cranial or spinal malformations. AOF may be asymptomatic or patients may experience symptoms from neural compression as well as limited neck movement. The myodural bridge (MDB) complex is a dense fibrous structure that connects the suboccipital muscular and its related facia to the cervical spinal dura mater, passing through both the posterior atlanto-occipital and atlanto-axial interspaces. It is not known if atlas occipitilization can induce structural changes in the MDB complex and its associated suboccipital musculature. The suboccipital region of a cadaveric head and neck specimen from an 87-year-old Chinese male having a congenital AOF malformation with resultant changes to the MDB complex was observed. After being treated with the P45 plastination method, multiple slices obtained from the cadaveric head and neck specimen were examined with special attention paid to the suboccipital region and the CVJM. Congenital atlanto-occipital fusion malformations are defined as partial or complete fusion of the base of the occiput (C0) with the atlas (C1). In the present case of CVJM, unilateral fusion of the left occipital condyle with the left lateral mass of C1 was observed, as well as posterior central fusion of the posterior margin of the foramen magnum with the posterior arch of C1. Also noted was a unilateral variation of the course of the vertebral artery due to the narrowed posterior atlanto-occipital interspace. Surprisingly, complete agenesis of the rectus capitis posterior minor (RCPmi) and the obliques capitis superior (OCS) muscles was also observed in the plastinated slices. Interestingly, the MDB, which normally originates in part from the RCPmi muscle, was observed to originate from a superior bifurcation within an aspect of the nuchal ligament. Therefore, the observed changes involving the MDB complex appear to be an effective compensation to the suboccipital malformations.

RESUMEN: La articulación atlanto-occipital está compuesta por las caras articulares superiores de las masas laterales del atlas (C1) y los cóndilos occipitales. La fusión atlanto-occipital congénita (FAO) implica la unión ósea de la base del occipucio (C0) y el atlas (C1). La FAO u occipitalización/asimilación del atlas representa una malformación de la unión craneovertebral (MUCV) que puede presentar otras malformaciones craneales o espinales. La FAO puede ser asintomática o los pacientes pueden experimentar síntomas de compresión neural así como movimiento limitado del cuello. El complejo del puente miodural (PMD) es una estructura fibrosa densa que conecta el músculo suboccipital y su fascia relacionada con la duramadre espinal cervical, pasando a través de los espacios intermedios atlanto-occipital posterior y atlanto-axial. No se sabe si la occipitilización del atlas puede inducir cambios estructurales en el complejo PMD y en la musculatura suboccipital. Se observó en la región suboccipital de un espécimen cadavérico, cabeza y cuello de un varón chino de 87 años con una malformación congénita de FAO con los cambios resultantes en el complejo PMD. Se examinaron múltiples cortes obtenidos de la muestra de cabeza y cuello después de ser tratados con el método de plastinación P45, con especial atención a la región suboccipital y la MUCV. Las malformaciones congénitas por fusión atlanto-occipital se definen como la fusión parcial o completa de la base del occipucio (C0) con el atlas (C1). En el presente caso de MUCV se observó la fusión unilateral del cóndilo occipital izquierdo con la masa lateral izquierda de C1, así como fusión posterior central del margen posterior del foramen magnum con el arco posterior de C1. También se observó una variación unilateral del curso de la arteria vertebral por el estrechamiento del espacio interatlanto-occipital posterior. Se observó además agenesia completa de los músculos Rectus capitis posterior minor (RCPmi) y oblicuos capitis superior (OCS) en los cortes plastinados. Curiosamente, se observó que el MDB, que normalmente se origina en parte del músculo RCPmi, se origina en una bifurcación superior dentro de un aspecto del ligamento nucal. Por lo tanto, los cambios observados en el complejo PMD parecen ser una compensación de las malformaciones suboccipitales.

Bilateral Accessory C1 and C2 Facet Joints; Clinical, Neuroradiological and Peroperative Findings in an Adult with Quadriparesis

Objectives Accessory C1 and C2 facet joints are very rare. Only few cases were reported in the literature.We report a case of bilateral accessory facets in an adult with special attention to clinical, neuroradiological, as well as peroperative findings. Case report A 37-year-old male presented with progressive quadriparesis. Radiology revealed bilateral posterior accessory C1 and C2 facet joints compressing the spinal cord with craniovertebral junction (CVJ) instability. Both accessory C1 and C2 facets with the posterior arch of the C1 were removed. Lateral mass screws and plates fixation at the C1 and C2 level, as well as fusion, were performed. Postoperatively, the patient recovered well. Conclusion In accessory C1 and C2 facet joints, when symptomatic, neuroradiological findings can guide to the proper diagnosis, to pathological understanding, and, ultimately, to management strategy.

Síndrome de Klippel-Feil autosómico dominante: una malformación de segmentación vertebral / Klippel-Feil autosomal dominant syndrome: a malformation of vertebral segmentation

INTRODUCCIÓN: El síndrome de Klippel-Feil constituye un desorden esquelético complejo altamente heterogéneo caracterizado por la fusión congénita de dos o más vértebras cervicales. La triada clínica clásica consiste en cuello corto, implantación baja del cabello y limitación para los movimientos del cue llo. Las mutaciones asociadas se localizan en los loci del gen GDF3 (cromosoma 12p13.31), GDF6 (cromosoma 8q22.1) y MEOX1 (cromosoma 17q21.31). OBJETIVO: Describir los hallazgos clínico- radiológicos y genealogía de una paciente con síndrome de Klippel-Feil. CASO CLÍNICO: Paciente de 5 años de edad con cuello corto, cabello de implantación baja posterior, limitación para los movimientos de lateralización. La radiografía cervical en flexión y extensión evidenció bloques de fusión entre C1-2-3, C4-5 y C6-7. En la tomografía axial computarizada de tórax se apreció múltiples hemivértebras del tercio superior de las vértebras torácicas correspondientes a las costillas I-IV. El cariotipo fue normal, 46, XX. La penetrancia reducida estuvo presente en cinco de los miembros de la familia. La fusión de C2-3 predominó en cuatro y en un individuo la fusión baja en C5-6. Tres de los cinco individuos afectados tenían fusión entre el hueso grande y ganchoso. CONCLUSIÓN: La malformación de segmentación vertebral congénita constituye un caso de interés por tratarse de un diagnóstico infrecuente en la edad pediátrica y cuya sospecha puede generarse a partir del examen clínico, estudio de imágenes complementado con la interpretación de la genealogía en los trastornos de herencia mendeliana, permitiendo brindar un oportuno asesoramiento genético a la familia.

INTRODUCTION: Klippel-Feil syndrome is a highly heterogeneous complex skeletal disorder characterized by the con genital fusion of two or more cervical vertebrae. The classic clinical triad consists of a short neck, low hairline, and neck movements limitation. The associated mutations are located in the loci of the GDF3 gene (chromosome 12pl3.31), GDF6 (chromosome 8q22.1), and MEOXI (chromosome 17q21.31). OBJECTIVE: To describe the clinical-radiological findings and pedigree of a patient with Klippel-Feil syndrome. CLINICAL CASE: A 5-year-old patient with short neck, low posterior hairline, and limitation of lateral movements. The cervical flexion and extension radiographs showed fusion blocks between C1-2-3, C4-5, and C6-7. The chest CT scan showed multiple hemivertebrae in the upper third of the thoracic vertebrae corresponding to ribs 1-tv. The karyotype was normal, 46, XX. Reduced penetrance was present in five of the family members. The fusion of C2-3 was present in four members and one individual had low fusion in C5-6. Three of the five affected individuals had a fusion between the capitate and the hamate bone. CONCLUSION: The malformation of congenital vertebral segmentation is a case of interest since it is an uncommon diagnosis in the pediatric age and whose clinical suspicion can be generated from the clinical examination, radiological study com plemented with the pedigree interpretation in Mendelian inheritance disorders, allowing to provide opportunely genetic counseling to the family.

Odontoid process hypoplasia and bipartite atlas associated with atlanto-axial instability / Hipoplasia do processo odontóide e atlas bipartido associado a instabilidade atlanto-axial / Hipoplasia de la apófisis odontoide y atlas bipartito asociado con inestabilidad atlantoaxial

ABSTRACT Surgical treatment of craniocervical junction pathology has evolved considerably in recent years with the implementation of short fixation techniques rather than long occipito-cervical fixation (sub-axial). It is often difficult and sometimes misleading to determine the particular bone and vascular features (high riding vertebral artery, for instance) using only the conventional images in three orthogonal planes (axial, sagittal and coronal). The authors describe a rare clinical case of congenital malformation of the craniovertebral junction consisting of hypoplasia/agenesis of the odontoid process and bipartite atlas associated with atlantoaxial instability which was diagnosed late in life in a patient with a previous history of rheumatologic disease. The authors refer to the diagnostic process, including new imaging techniques, and three-dimensional multiplanar reconstruction. The authors also discuss the surgical technique and possible alternatives.

RESUMO O tratamento cirúrgico da patologia da charneira crânio-cervical tem evoluído consideravelmente nos últimos anos com a implementação de técnicas de fixação curta em detrimento de longas fixações occipito-cervicais (sub-axiais). Frequentemente é difícil e por vezes enganador determinar as variações ósseas e vasculares (artéria vertebral high-riding p.e.) apenas pelas imagens convencionais em três planos ortogonais (axial, sagital e coronal). Os autores descrevem um caso clínico raro de malformação congénita da charneira crânio-cervical constituída por hipoplasia/agenésia da odontoide e atlas bipartido, associado a instabilidade atlanto-axial e diagnosticado tardiamente em doente com antecedentes reumáticos prévios. Descreve-se o processo diagnóstico, incluindo novas técnicas de imagiologia e de reconstrução multiplanar tridimensional. Discute-se a técnica cirúrgica utilizada e possíveis alternativas.

RESUMEN El tratamiento quirúrgico de la patología de la región craneocervical ha evolucionado considerablemente en los últimos años con la aplicación de técnicas de fijación cortas en lugar de fijación occipito-cervical larga (sub-axial). A menudo es difícil y hasta engañoso determinar las características óseos y vasculares (arteria vertebral high-riding, por ejemplo) usando sólo imágenes convencionales en tres planos ortogonales (axial, sagital y coronal). Los autores describen un caso clínico poco frecuente de malformación congénita de la unión craneocervical que consiste en la hipoplasia/agenesia de la apófisis odontoides y atlas bipartito, asociado con la inestabilidad atlantoaxial, diagnosticado tardiamente en pacientes con enfermedades reumatológicas previas. Los autores relatan el proceso de diagnóstico, incluyendo nuevas técnicas de imagen y la reconstrucción multiplanar tridimensional. Los autores también discuten la técnica quirúrgica y las posibles alternativas.

Cervical vertebral anomalies in skeletal malocclusions: A cross-sectional study on orthodontic patients at the Aga Khan University Hospital, Pakistan.

Introduction: Morphological deviations of the cervical vertebral column have been described in relation to craniofacial aberrations and syndromes. Furthermore, it has recently been shown that abnormal morphology of upper cervical vertebrae is associated with malformation of the jaws and occlusion. Accordingly, it is relevant to focus on similar associations in patients with skeletal malocclusions. Therefore, the objectives of this study are to: • Identify the anomalies of the cervical column in patients with skeletal malocclusions • Determine the association between cervical vertebral anomalies and skeletal malocclusions. Materials and Methods: This cross‑sectional study was conducted on a total of 90 subjects at the Aga Khan University Hospital, Pakistan. The inclusion criteria were: (1) Pakistani origin; (2) standardized pretreatment profile radiograph with first six cervical vertebrae visible; and (3) accessibility of the second‑profile radiograph (mid‑ or posttreatment). The exclusion criteria were: (1) A prior history of orthodontic treatment; (2) any craniofacial anomaly; and (3) systemic muscle or joint disorder. Lateral cephalograms of all subjects (n = 90) were traced by the principal investigator and sagittal jaw relationship was assessed. A total of 30 subjects each with skeletal Class I, Class II, and Class III malocclusions were selected and the cervical vertebral anomalies were observed on their cephalometric radiographs. The frequencies of cervical vertebral anomalies according to skeletal malocclusion categories and gender were analyzed with the Chi‑square test, whereas association of cervical vertebral anomalies with skeletal malocclusions was assessed with logistic regression analysis. The level of significance (P ≤ 0.05) was used for the statistical tests. Results: Most common anomaly observed in the three groups was fusion between C2 and C3 (P = 0.006). This anomaly was found in 20% of subjects with skeletal Class I, 50% of subjects with skeletal Class II and 53.3% with skeletal Class III malocclusions. The highest frequencies of partial cleft at the level of C1 and occipitalization were observed in subjects with skeletal Class II and III malocclusions, respectively. However, none of the subjects showed fusion between C1 and C2 or dehiscence. No statistically significant gender difference was found in the occurrence of morphological deviations of the cervical column. The association of cervical vertebral anomaly was found to be the highest with skeletal Class III and lowest with skeletal Class I malocclusions. Conclusion: Fusion between C2 and C3 seems to be the most commonly occurring anomaly. This anomaly seems to be more often associated with skeletal Class III than skeletal Class I or Class II malocclusions.

Frequency of ponticulus posticus in lateral cephalometric radiography of peruvian patients / Frecuencia de ponticulus posticus en radiografías cefalométricas laterales de peruanos

The Ponticulus posticus is an anomalous ossification of unknown origin that arches backward from the superior articular process to the posterior arch of the Atlas vertebra, it can be complete or partial and houses vascular and nervous elements; it is diagnosed by lateral cervical radiography, cephalometric radiography or CT scans. The purpose for the present study was to determine the frequency of partial and complete Ponticulus posticus in lateral cephalometric radiography of Peruvian patients and identify any possible genre or age group associations. The study consisted in reviewing 1056 lateral cephalometric radiography of patients between 3­56 years old in search of partial or complete Ponticulus posticus. The mean age of subjects studied was 14.05±7.43 years old. The Ponticulus posticus frequency was 19.79%, the partial Ponticulus posticus frequency was 11.08% and the complete Ponticulus posticus frequency was 8.71%; Cramer´s V and ETA statistics found not significant association between the PP and the genre or the age groups (p>0.05). The Ponticulus posticus is not an infrequent radiographic finding, our results are similar to those reported in the Americas and similar to different for other ethnic groups, we confirm that the Ponticulus posticus is not associated with genre or age and we reviewed the importance of the Ponticulus posticus in the prognosis of the Atlas-Axis surgical stabilization.

El ponticulus posticus es una osificación anómala de origen desconocido en forma de arco que va desde el proceso articular hacia el arco posterior del atlas; puede ser completo o parcial y aloja elementos vasculares y nerviosos; su diagnóstico se realiza mediante la radiografía lateral cervical, radiografía cefalométrica o tomografía computarizada. El propósito del estudio fue determinar la frecuencia del ponticulus posticus parcial y completo en radiografías cefalométricas de pacientes peruanos y determinar las diferencias de acuerdo al sexo y edad. Se revisaron 1056 radiografías cefalométricas de pacientes entre los 3 a 56 años de edad en busca de ponticulus posticus parcial o completo. La edad promedio fue de 14,05±7,43 años. La frecuencia de ponticulus posticus en general fue 19,79%, con el tipo parcial en un 11,08% y de tipo completo en un 8,71%. Se observó una mayor frecuencia en los hombres (10,22%) que en mujeres (9,56%). No se encontraron diferencias significativas entre la presencia de ponticulus posticus parcial o completo con respecto al sexo y a la edad (p>0,05). El ponticulus posticus no es un hallazgo infrecuente, nuestros resultados fueron similares a los reportados para pacientes americanos y similares a distintos para otros grupos étnicos, se confirmo mediante estadística que el ponticulus posticus no se encuentra asociado a la edad y se discute la importancia de la presencia del ponticulus posticus en el pronóstico de la estabilización del complejo vertebral atlas-axis.

Morphometry and variations of bony ponticles of the atlas vertebrae (C1) in kenyans / Morfometría y variaciones de puentes óseos de la vértebra atlas (C1) en kenianos

Atlas bridges, the bony outgrowths over the third segment of the vertebral artery are associated with compression of the artery and nerves. There are limited studies comparing morphometry of the complete atlas bridges and that of the ipsilateral transverse foramen. Bilateral and gender differences in the morphometry of the complete bridges remain relatively unexplored. One hundred and two atlas vertebrae (49 male and 53 female) obtained from the Osteology Department of the National Museums of Kenya were used for this study. The presence of complete posterior atlas bridge (retroarticular canal) and lateral bridge (supratransverse foramen) was noted. Measurements were taken for the diameters of foramina, and the ipsilateral transverse foramina and their areas calculated. Complete posterior bridges occurred in 14.6 percent and 13.6 percent on the right and left sides respectively. The lateral bridge was found in 3.9 percent of the cases on the right side only. The complete posterior bridges had a cross-sectional area of 23.44mm2 on the right and 24.98mm2 on the left side. The lateral bridges had a mean cross-sectional area of 27.30mm2. The right and left transverse foramina had mean crosssectional area of 36.30mm2 and 37.20mm2 respectively, which was significantly larger than that of the ipsilateral complete and posterior bridges. The smaller dimensions of the complete atlas bridges compared to the ipsilateral transverse foramen suggest that they may predispose to vertebrobasilar insufficiency, Barre-Lieou and cervicogenic syndromes due to compression of the contents in the foramina.

Puentes del atlas, sobrecrecimientos óseos en el tercer segmento de la arteria vertebral se asocian con la compresión de la arteria y los nervios. Hay pocos estudios que comparan la morfometría de los puentes completos del atlas y el foramen transversal ipsilateral. Diferencias bilaterales y de género en la morfometría de los puentes completos permanecen relativamente inexplorados. Ciento dos vértebras atlas (49 hombres y 53 mujeres) obtenidos del Departamento de Osteología de los Museos Nacionales de Kenya se utilizaron para este estudio. Fueron identificados la presencia de puentes completos posteriores del atlas (canal retroarticular) y puentes laterales (foramen supratransverso). Se realizaron las mediciones de los diámetros del foramen y los forámenes transversos ipsilaterales, y se calcularon sus áreas. Puentes completos posteriores se observaron en el 14,6 por ciento y 13,6 por ciento de los lados derecho e izquierdo, respectivamente. El puente lateral se encontró en el 3,9 por ciento de los casos en el lado derecho solamente. Los puentes completos posteriores tuvieron un área transversal de 23,44mm2 en el lado derecho y 24,98mm2 en el lado izquierdo. Los puentes laterales tuvieron un área media de sección transversal de 27,30mm2. En los lados derecho e izquierdo se encontrron forámenes transversos con un área promedio de sección transversal de 36,30mm2 y 37,20mm2 respectivamente, lo que fue significativamente mayor que el de los puentes completos ipsilaterales y posteriores. Las dimensiones más pequeñas de los puentes atlas completos en comparación con los forámenes transversos ipsilaterales sugieren que pueden predisponer a la insuficiencia vertebrobasilar, síndromes de Barre-Lieou y cervical debido a la compresión de los contenidos en los forámenes.

Anomalias ósseas congênitas em sotalia guianensis (mammalia, cetacea, delphinidae) da costa centro-norte do estado do Rio de Janeiro / Congenital bone defects in guiana dolphin, sotalia guianensis (mammalia, cetacea, delphinidae) in the northcentral coast of Rio de Janeiro state, Brazil

Carcaças de botos-cinza Sotalia guianensis (van Bénéden, 1864) foram recuperadas entre 20 de agosto de 2001 e 13 de fevereiro de 2006, na costa centro-norte fluminense. A maior parte delas (85 por cento) entre Barra de São João (22º35'S 41º59'W) e Quissamã (22º06'S 41º28'W). Foram estudadas as colunas vertebrais dos 20 exemplares que apresentavam mais de 60 por cento das vértebras presentes. A coleção é formada por 75 por cento de animais imaturos, e todos os esqueletos mostram alterações tafonômicas mínimas. Duas categorias de anomalias congênitas foram diagnosticadas, ambas relacionadas ao desenvolvimento do mesoderma paraxial. A sétima vértebra cervical (C7) foi a única afetada, as costelas cervicais e o não fechamento do arco neural atingiram 15 (75 por cento) dos indivíduos analisados, dos quais três (15 por cento) apresentam ambas as anomalias. Nove (45 por cento) indivíduos apresentaram costelas cervicais uni ou bilateral, e nove (45 por cento) indivíduos apresentaram não fechamento do arco neural; em todos os casos as vértebras contíguas eram normais. A ocorrência de anomalias nesta série do Rio de Janeiro é maior do que as referidas na literatura brasileira para outras séries de Sotalia do Amazonas, Ceará e Santa Catarina. A série de Sotalia descrita vem de uma região do litoral muito limitada e provavelmente representa uma população local. As costelas cervicais são geneticamente determinadas e podem estar concentradas por uma condição de grande proximidade biológica entre os animais; o não fechamento do arco pode ter também um componente ambiental, a ser investigado futuramente.

Carcasses of Guiana dolphins, Sotalia guianensis (van Bénéden, 1864) were recovered from August 20, 2001 to February 13, 2006 along the north-central coast of Rio de Janeiro state. Most of the animals (85 percent) were found between Barra de São João (22º35'S 41º59'W) and Quissamã (22º06'S 41º28'W). We studied the vertebral columns of all the 20 specimens that had more than 60 percent of the vertebrae preserved. The series has 75 percent of immature animals and all skeletons displayed a minimum of taphonomic changes. Two categories of congenital anomalies were diagnosed, both related to the development of the paraxial mesoderm. The seventh cervical vertebra (C7) was the only affected; the cervical ribs and the cleft neural arches were present in 15 (75 percent) of the individuals, three (15 percent) of which had both anomalies. Nine (45 percent) individuals had unilateral or bilateral cervical ribs, and nine (45 percent) individuals had cleft neural arches; the contiguous vertebrae were normal in every case. The frequency of these anomalies was higher in that Rio de Janeiro series than in other Sotalia series previously reported in the Brazilian literature for Amazonas, Ceará and Santa Catarina States. The present Sotalia series here described comes from a very limited coastal region probably representing a local population. The cervical ribs are genetically defined and may be concentrated because of a condition of close biological proximity among the animals; the cleft arch could also be determined by environmental factors, to be investigated in the future.

Síndrome de regresión caudal: caso clínico / Caudal regression syndrome: clinical case and update

Caudal regression is a rare congenital malformation which includes a wide spectrum of musculoskeletal abnormalities involving the lumbosacral spine, pelvis and lover limbs. It can be associated to visceral defects (gastrointestinal, genitourinary, cardiac or neurological) in various degrees. The etiology is not yet clear, but maternal diabetes, genetic predisposition, and vascular hypoperfusion are suspected. Objective: Describe a case of exceptional extension, including first year evolution. Clinical Case: A male newborn, term, was diagnosed before birth. Mother is a Type 2 diabetic. Physical exam and images confirm the diagnosis, show presence of 7 cervical vertebrae, 8 thoracic, agenesia of distal dorsal and lumbosacral spine. No spinal disraphia, medular conus at D2. Conclusion: The reported case shows that early diagnosis and multidisciplinary evaluation of the patient are essential elements to decrease complications and improve prognosis.

Antecedentes: El síndrome de regresión caudal es una malformación congénita poco frecuente, caracterizada por un amplio espectro de anormalidades musculoesqueléticas que comprometen columna lumbosacra, pelvis y extremidades inferiores. Se puede asociar a diversos defectos viscerales (gastrointestinales, genitourinarios, cardíacos y neurológicos) presentes en distintos grados según la severidad del caso. Su etiología aún no se encuentra bien dilucidada, pero se sospecha que la diabetes materna, la predisposición genética y la hipoperfusión vascular serían algunos de los factores involucrados en su patogénesis. Objetivo: Dar a conocer un caso de regresión caudal de extensión excepcional y describir su evolución durante el primer año de vida. Caso clínico: Se presenta el caso de un recién nacido de término, sexo masculino, hijo de madre diabética tipo 2, con diagnóstico antenatal de síndrome de regresión caudal. El examen físico y las imágenes confirman el diagnóstico y muestran la presencia de siete cuerpos vertebrales cervicales y sólo ocho torácicos, con agenesia de columna dorsal distal y lumbosacra, sin disrrafia espinal y cono medular en nivel de D2. Conclusión: El caso reportado demuestra que tanto el diagnóstico precoz como la evaluación multidisciplinaria del paciente, son pilares esenciales para disminuir el riesgo de complicaciones asociadas y mejorar su pronóstico.

Tomographic assessment of the spine in children with spondylocostal dysotosis syndrome

OBJECTIVE: The aim of this study was to perform a detailed tomographic analysis of the skull base, craniocervical junction, and the entire spine in seven patients with spondylocostal dysostosis syndrome. METHOD: Detailed scanning images have been organized in accordance with the most prominent clinical pathology. The reasons behind plagiocephaly, torticollis, short immobile neck, scoliosis and rigid back have been detected. Radiographic documentation was insufficient modality. RESULTS: Detailed computed tomography scans provided excellent delineation of the osseous abnormality pattern in our patients. CONCLUSION: This article throws light on the most serious osseous manifestations of spondylocostal dysostosissyndrome.

A rare cervical spine abnormality associated with neurofibromatosis.

Spinal abnormalities such as kyphoscoliosis and vertebral scalloping are frequent occurrences in type 1 neurofibromatosis (NF1). We report this rare case of posterior displacement of C3 vertebral body into the spinal canal causing severe cord compression associated with neurofibromatosis in a 13-year old girl. She underwent anterior excision of C3 vertebral body, bone graft and fixation of C2- C4, with improvement of her symptoms.

Reoperaciones en patología degenerativa cervical / Reoperations un degenerative cervical pathology

Objetivo. Analizar los resultados obtenidos en los casos de reoperaciones en patología degenerativa de la columna cervical. Método. Se revisaron restrospectivamente las historias clínicas de 14 casos (6 varones - 8 mujeres / edad media 55,70 años) de repoeraciones cervicales (10 derivados - 4 propios) por patología degenerativa entre los años 2000-2005. La primera cirugía fue: discectomía anterior con injerto autólogo (1 caso) y placa (3 casos), laminoplastía expansiva (5 casos), corpectomía anterior con injerto autólogo y placa (3 casos), laminectomía (1 caso) y microforaminotomía posterior (1 caso). El diagnóstico previo a la segunda cirugía fue: pseudoartrosis (1 caso) y luxación de placa (1 caso), compresión mecánica (10 casos), osteomielitis (1 caso) e inestabilidad (1 caso). Se decidió reoperarlos por estar sintomáticos. En el postoperatorio fueron evaluados con las escalas de Odom o Zeidman-Ducker a los 3 meses. Resultados. Las reoperaciones se realizaron entre 3 y 36 meses después de la primera cirugía: curetaje, injerto y placa (1 caso), recolocación (1 caso) y extracción de placa (1 caso), curetaje y laminectomía (1 caso), osteosíntesis posterior (1 caso), corpectomía (1 caso) y laminoplastía expansiva (8 casos). En 5/6 casos evaluados con la escala de Odom la evolución fue excelente y el 5/8 casos evaluados con la escala de Zeidman-Ducker su mielopatía mejoró 1 grado. Los que no mejoraron fue por la presencia de comorbilidades o daño medular permanente. Conclusión. En los casos de patología cervical degenerativa, la reoperación tuvo buenos resultados evolutivos en el 71 de los casos. Palabras clave: columna cervical, discectomía anterior, laminoplastía expansiva, reoperaciones.

Objective: To analize the outcome of cervical spine reoperations in cases with degenerative pathology. Method: We retrospectively reviewed the clinical records of 14 cases (6 males - 8 female / median age 55.70 years-old) of cervical spine reoperations (10 referrals - 4 of our own) with degenerative pathology during the years 2000-2005. The first surgery was: anterior discectomy with autologous graft (1 case) and plate (3 cases), expansive laminoplasty (5 cases), anterior corpectomy with autologous graft and plate (3 cases), laminectomy (1 case) and posterior microforaminotomy (1 case). The diagnosis previous to the second surgery was: pseudarthrosis (1 case) and plate luxation (1 case), mechanical compression (10 cases), osteomyelitis (1 case) and instability (1 case). they were reoperated beacause they were symptomatic. Postoperative outcome was evaluated according to Odom or Zeidman-Ducker scales at 3 months. Results: Reoperations were performed between 3 and 36 months after the first surgery: curetage, graft and plate (1 case), replating (1 case) and plate extraction (1 case), curetage and laminectomy (1 case), posterior fixation (1 case), corpectomy (1 case) and expansive laminoplasty (8 cases). In 5/6 cases, evaluated with the Odom scale the outcome was excellent and 5/8 cases evaluated with the Zeidman-Ducker scale mielopathy improved 1 grade. Those who did not improve had co-morbidities or permanent cerival myelopathy. Conclusions: In these cases presented with cervical degenerative pathology, reoperation has a good outcome in 71 of them. Key words: anterior descectomy - cervical spine - expansive laminoplasty - reoperations.

Asociación de paladar fisurado y sindrome de Klippel-Feil / Cleft palate and Klippel-Feil syndrome: a case report

El síndrome de Klippel-Fiel, Distrofia Brevicollis Congénita, Sinostósis Congénito Cervical o Fusión de las Vértebras Cervicales, consiste en la fusión de, al menos, dos de las siete vértebras del cuello. Se caracteriza por la presencia de una tríada clásica compuesta por cuello corto, baja inserción de la línea del cabello y limitación de los movimientos del cuello. Pero además se puede acompañar de una serie de condiciones tales como: escoliosis, tortícolis, deformidad de Sprengel, malformaciones cardiovasculares, renales, auditivas y paladar fisurado entre otros. La aparición del paladar fisurado en pacientes con el síndrome de Klippel-Feil se presenta entre el 5 y el 10 de los casos. Como posibles causas primarias de la falta de fusión del paladar se han reportado las anomalías de la columna cervical superior y alteraciones en la base del cráneo, defectos que impiden la fusión de las dos apófisis horizontales de los maxilares. Con este artículo se reporta el caso de una niña de una niña de 10 años que presenta Síndrome de Klippel-Feil asociado con la deformidad de Sprengel y Paladar fisurado.

Kippel-Feil syndrome is a condition characterized by shortness of the neck resulting from reduction in the number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass. It is characterized by a classic triad: short neck, low hair insertion line and limited neck movements. There are some associated conditions that could be presents like scoliosis, wryneck, Sprengel deformation, cardiovascular, kidney, hearing troubles and fissured palate. Kippel-Feil syndrome had been reported as an important cause of about 5 to 10 of fissured palate because skull basal lesions and spine cervical upper alterations could be the primary troubles for the tow part of the palate bone union. This article presents a case of Klippel-Feil syndrome, Sprengel deformity and clef palate associated in a ten years old girl.

Anesthetic management in a case of Klippel-Feil syndrome and literature review

Klippel-Feil syndrome is known by the classic triad of shortness of the neck, limitation of neck movements, and a low posterior hairline. There are often accompanying cervical spinal abnormalities such as kyphoscoliosis as well as urogenital and cardiac abnormalities. Presented here we have a 20 year old young man with hypoesthesia and decreased motor function in the right hand. The problem began one year back following a minor head trauma and had a progressive course involving the legs, especially the feet. Cervical magnetic resonance imaging was compatible with C3-C4 cord compression as well as blocked vertebrae. The patient was evaluated to be in Mallampati class II. Endotracheal intubation was performed employing gentle manual axial traction in both anterior and posterior operative approaches without any neurological sequela. It is recommended that in situations where fiberoptic or Bullard laryngoscopes are not available and Mallampati class is low, direct laryngoscopy associated with gentle axial traction may be a plausible substitute

Congenital absence of the posterior elements of C2 vertebra: a case report.

A rare case of the complete absence of the posterior elements of C2 is reported. The patient presented with neck pain without any neurological deficits and radiology revealed a mobile, partially reducible dislocation of the C2 over C3 vertebra. A posterior fusion utilizing a contour rod, sublaminar wire fixation, and onlay bone grafts between the occiput and the C3 vertebra was performed for spinal stability.

Alteraciones hioideas y cervicales que repercuten en la posición de la cabeza en pacientes con microsomía hemifacial / Repercussion of hyoid and cervical alterations on the head position in patients with hemifacial microsomia

Investigaciones previas han empleado varios análisis para relacionar el hueso hioides con el cráneo. Estos estudios remarcan el grado de variabilidad en la posición del hueso hioides con los pequeños movimientos de la cabeza, ya que ambos se encuentran íntimamente relacionados. El análisis del triángulo hioideo y el de las vértebras cervicales fueron aplicados en una muestra de 51 pacientes con microsomía hemifacial, de los cuales 29 (57 por ciento) fueron masculinos y 22 (43 por ciento) femeninos, con un rango de edad entre 3.0 a 27.6 años (con un promedio de edad de 10.39 y una desviación estándar de 6.63). Diecisiete (33 por ciento) de los pacientes con grado I, 13 (76 por ciento) unilateral y 4 (24 por ciento) bilateral, 28 (55 por ciento) con grado II, 25 (89 por ciento) unilateral, 4 (11 por ciento) bilateral, 6 (12 por ciento) con grado III. La posición ánterosuperior del hueso hioides con relación a las vértebras cervicales se encontró aumentada en la muestra, pero la distancia del hueso hioides a la sínfisis mandibular se encontró disminuida. Los ángulos NSL-OPT, OPT-HOR, NSL-VER, NSL-CVT, se encontraron aumentados. Se concluye que los pacientes con microsomía hemifacial presentan una posición posterior de la cabeza, crecimiento vertical, posterorrotación de la mandíbula y una clase II de Angle. En la posición del hueso hioides no se encontró que existiera dimorfismo sexual. Estos hallazgos indican que la posición del hueso hioides es muy importante con relación a la posición de la cabeza