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1.
Spine Deform ; 12(2): 507-511, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38097876

RESUMO

Biallelic pathogenic variants of the RIPPLY2 gene have been recognized to cause a subtype of autosomal recessive spondylocostal dysostosis (SCDO6), characterized by predominant cervical spine malformation with minor or absent involvement of the ribs. To date, RIPPLY2 associated SCDO6 has been described in ten patients in five studies with accompanying clinical symptoms varying from transient and recurrent torticollis to flaccid quadriplegia. Here, we describe two additional patients in one family in which the c.A238T:p.Arg80* RIPPLY2 mutation in the homozygous state, was associated with severe malformation of the posterior elements of the cervical vertebral column. In both cases neurological symptoms occurred early in life due to spinal cord compromise. These two cases, in keeping with previous reports, highlight the early and progressive natural history of cervical deformity in this rare skeletal dysplasia and the need for close neurological and radiological surveillance. Surgical decision-making needs to carefully balance the need for early intervention to protect spinal cord function on one hand, with the problem of bone malformation and skeletal immaturity on the other.


Assuntos
Anormalidades Múltiplas , Traumatismos da Medula Espinal , Humanos , Irmãos , Anormalidades Múltiplas/cirurgia , Vértebras Cervicais/diagnóstico por imagem , Vértebras Cervicais/cirurgia , Vértebras Cervicais/anormalidades , Traumatismos da Medula Espinal/complicações
3.
J Wildl Dis ; 59(3): 532-535, 2023 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-37170428

RESUMO

We captured a <1-d-old male elk calf (Cervus canadensis) with a shortened neck. Postmortem examination revealed trauma, meconium aspiration syndrome, and cervical vertebral malformation (partial fusion and narrowed disc spaces). This observation is novel in a wild elk calf, although the gross lesions resembled complex vertebral malformation in neonatal cattle.


Assuntos
Animais Selvagens , Doenças do Desenvolvimento Ósseo , Cervos , Animais , Masculino , Kentucky , Síndrome de Aspiração de Mecônio/veterinária , Vértebras Cervicais/anormalidades , Doenças do Desenvolvimento Ósseo/diagnóstico , Doenças do Desenvolvimento Ósseo/veterinária , Animais Recém-Nascidos
4.
Br J Neurosurg ; 37(5): 1346-1348, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33507116

RESUMO

BACKGROUND: Cervical hemivertebrae are extremely rare anomalies which usually present with restriction of neck movements and torticollis in childhood. Hemivertebrae within the craniovertebral junction have only been reported once previously in the literature. We report a case of semisegmented C2 vertebra presenting in a young adult with cervical pain and torticollis with no other associated anomalies. CASE DESCRIPTION: A 21-year-old lady presented with a history of neck pain for the past 10 days and longstanding torticollis with head tilt to the left. Computed tomographic scan of the cervical spine revealed a semisegmented hemivertebra located laterally between the C1 lateral mass and C2 on the right side which was not associated with any other bony anomalies, scoliosis or atlantoaxial dislocation. Conservative treatment with physical therapy was the chosen therapeutic strategy. CONCLUSION: Hemivertebrae within the craniovertebral junction are exceedingly rare anomalies which may present with pain and deformity in childhood and are an important cause of congenital torticollis which may be associated with other spinal, craniofacial, cardiac or renal anomalies.


Assuntos
Lesões do Pescoço , Escoliose , Torcicolo , Feminino , Adulto Jovem , Humanos , Adulto , Torcicolo/diagnóstico por imagem , Torcicolo/etiologia , Vértebras Cervicais/diagnóstico por imagem , Vértebras Cervicais/anormalidades , Tomografia Computadorizada por Raios X/efeitos adversos , Lesões do Pescoço/complicações
5.
Br J Neurosurg ; 37(6): 1594-1603, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36073850

RESUMO

OBJECTIVE: Craniovertebral junction (CVJ) pathology by virtue of its complexity is a surgical challenge in the realm of neurosurgery. We analyzed the need for transoral odointectomy in view of their C1-C2 joint coronal and sagittal angle of 58 patients with complex CVJ anomalies treated surgically. The clinical and radiological outcome of the patients was assessed and a treatment algorithm is proposed. METHODS: A total of 58 cases were included in the Prospective study over the period of 2 years. Patients were evaluated clinically, investigated, and operated with reduction and rigid internal fixation with screws and rod. The clinical outcome was measured by Modified Japanese orthopedic association score(mJOA) and radiologically by conventional craniometrics indices. Paired 't' test used for statistical analysis. RESULTS: Mean age of patients: 30 years, with mean, follow up: 20.5 months. 46(80%) patients were operated by posterior and 12(20%) by combined approach (anterior transoral with posterior). Occipitocervial fixation was done in 15(25.8%) cases and C1-C2 fixation in 43(74.2%) cases. As compared to patients with low coronal angle, the patient with coronal angle >65° needed anterior decompression (87.5%) and all (100%) had Occipitocervical fixation. Clinical outcome analysis showed significant improvement in mean mJOA score (preop 11.9 Vs postop 14.6) after surgery. All craniometrics indices were significantly improved after surgery. The overall complication rate was 10% with a mortality of 1.7%. 6 months follow up completed in all patients with a 100% fusion rate. CONCLUSION: Occipitocervical fixation and anterior decompression is required in increased C1-C2 joint CA (>65°) for bony realignment and adequate decompression. Measurement of C1-C2 joint coronal and sagittal angle in complex CVJ anomalies will easily anticipate the surgeon regarding the need for anterior decompression inform of transoral odointectomy.


Assuntos
Articulação Atlantoaxial , Luxações Articulares , Fusão Vertebral , Humanos , Adulto , Vértebras Cervicais/diagnóstico por imagem , Vértebras Cervicais/cirurgia , Vértebras Cervicais/anormalidades , Luxações Articulares/diagnóstico por imagem , Estudos Prospectivos , Articulação Atlantoaxial/diagnóstico por imagem , Articulação Atlantoaxial/cirurgia , Radiografia , Fusão Vertebral/efeitos adversos , Resultado do Tratamento
6.
Int. j. morphol ; 40(3): 796-800, jun. 2022. ilus
Artigo em Inglês | LILACS | ID: biblio-1385687

RESUMO

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.


Assuntos
Humanos , Masculino , Idoso de 80 Anos ou mais , Articulação Atlantoccipital/anormalidades , Crânio/anormalidades , Vértebras Cervicais/anormalidades , Plastinação/métodos , Cadáver
7.
Spine Deform ; 10(1): 189-195, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34251606

RESUMO

PURPOSE: Limited dorsal myeloschisis, a form of cervical spinal dysraphism, is a rare anomaly and is typically associated with spinal cord tethering. The objective is to illustrate a rare dysraphic anomaly in the cervicothoracic spine causing myelopathy, not due to tethering but secondary to progressive kyphosis. To our knowledge, such an anomaly has not been described in the literature. STUDY DESIGN: Case report METHODS: A 16-year-old boy presented with lower extremity spastic paraparesis due to progressive cervicothoracic deformity. The imaging studies revealed extensive posterior arch defects from C1 to T6. The cervical spinal cord and meninges had herniated out of the spinal canal in the hyperlordotic cervical spine, and the thoracic spinal cord was stretched and compressed over the T4/5 kyphotic apex. Free-floating spinous processes were found compressing the cord at the T4-5 level. Tethering was not detected. RESULTS: The patient underwent a posterior vertebral column resection at T5 and excision of the free-floating spinous processes. The patient made a complete neurological recovery. At 8 year follow-up, he was asymptomatic and his deformity was stable. CONCLUSION: We present a rare congenital cervical dystrophic anomaly causing myelopathy secondary to progressive kyphosis. We speculate that this anomaly was due to the sclerotomal cells' failure to migrate dorsally to the neural tube and fuse in the midline.


Assuntos
Cifose , Lordose , Doenças da Medula Espinal , Adolescente , Vértebras Cervicais/anormalidades , Vértebras Cervicais/diagnóstico por imagem , Vértebras Cervicais/cirurgia , Humanos , Cifose/complicações , Cifose/diagnóstico por imagem , Lordose/complicações , Masculino , Doenças da Medula Espinal/diagnóstico por imagem , Doenças da Medula Espinal/etiologia , Doenças da Medula Espinal/cirurgia
8.
Sci Rep ; 11(1): 18254, 2021 09 14.
Artigo em Inglês | MEDLINE | ID: mdl-34521880

RESUMO

In patients with dropped head syndrome (DHS), cervical malalignment is one of the risk factors for impaired horizontal gaze and restrictions to ambulation. The characteristics of gait in patients with DHS have not been clarified biomechanically from the viewpoint of dynamic alignment and lower limb kinematics. This study aimed to clarify kinematic and kinetic differences during level walking in patients with DHS compared to the healthy elderly. Twelve patients with DHS and healthy elderly individuals performed level walking at a self-selected speed. Spatiotemporal, kinematic, and kinetic data were recorded using a three-dimensional motion analysis system. Statistical analysis was performed to compare these data between the two groups, respectively. Compared with the healthy elderly, stride length and peak hip-joint extension angle in patients with DHS were significantly shorter and smaller. The thorax was also significantly tilted backwards. Peak ankle-joint plantar-flexion moment was significantly smaller despite larger dorsiflexion angle compared with the healthy elderly. The walking of DHS patients demonstrated kinematic and kinetic characteristics of the lower limb joints and alignment of the thorax and pelvis corresponding to their short stride and walking speed.


Assuntos
Vértebras Cervicais/anormalidades , Caminhada/fisiologia , Idoso , Fenômenos Biomecânicos , Estudos de Casos e Controles , Feminino , Marcha/fisiologia , Humanos , Imageamento Tridimensional , Masculino , Movimento/fisiologia , Síndrome
9.
World Neurosurg ; 153: 41-43, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34246824

RESUMO

Morquio disease or mucopolysaccharidosis type IVA (Online Mendelian Inheritance in Man No. 253000) is a rare autosomal recessive disease classified in the group of metabolism inborn errors. The glycosaminoglycans accumulate in chondrocytes, which disturbs bone growth and leads to skeletal manifestations, such as skeletal dysplasia and a short stature. In addition, the disproportionate growth of the trachea can lead to airway insufficiency. We report the case of a 27-year-old man with dwarfism due to Morquio disease, which had resulted in quadriparesis, hyperreflexia, and dyspnea, requiring a "look up to the sky" compensatory position. Imaging studies of the neck showed tracheal tortuosity, spinal stenosis, myelopathy, and neurogenic arthropathy (Charcot joint). The patient was treated with occipital-cervical-thoracic instrumentation. However, postoperative tracheal correction was required. Considering the wide spectrum of clinical features in those with mucopolysaccharidosis type IVA, individualized multidisciplinary treatment is recommended.


Assuntos
Vértebras Cervicais/anormalidades , Mucopolissacaridose IV/complicações , Adulto , Humanos , Masculino
10.
Bone Joint J ; 103-B(4): 734-738, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33789479

RESUMO

AIMS: The aim of this study was to identify the risk factors for adverse events following the surgical correction of cervical spinal deformities in adults. METHODS: We identified adult patients who underwent corrective cervical spinal surgery between 1 January 2007 and 31 December 2015 from the MarketScan database. The baseline comorbidities and characteristics of the operation were recorded. Adverse events were defined as the development of a complication, an unanticipated deleterious postoperative event, or further surgery. Patients aged < 18 years and those with a previous history of tumour or trauma were excluded from the study. RESULTS: A total of 13,549 adults in the database underwent primary corrective surgery for a cervical spinal deformity during the study period. A total of 3,785 (27.9%) had a complication within 90 days of the procedure, and 3,893 (28.7%) required further surgery within two years. In multivariate analysis, male sex (odds ratio (OR) 0.90 (95% confidence interval (CI) 0.8 to 0.9); p = 0.019) and a posterior approach (compared with a combined surgical approach, OR 0.66 (95% CI 0.5 to 0.8); p < 0.001) significantly decreased the risk of complications. Osteoporosis (OR 1.41 (95% CI 1.3 to 1.6); p < 0.001), dyspnoea (OR 1.48 (95% CI 1.3 to 1.6); p < 0.001), cerebrovascular accident (OR 1.81 (95% CI 1.6 to 2.0); p < 0.001), a posterior approach (compared with an anterior approach, OR 1.23 (95% CI 1.1 to 1.4); p < 0.001), and the use of bone morphogenic protein (BMP) (OR 1.22 (95% CI 1.1 to 1.4); p = 0.003) significantly increased the risks of 90-day complications. In multivariate regression analysis, preoperative dyspnoea (OR 1.50 (95% CI 1.3 to 1.7); p < 0.001), a posterior approach (compared with an anterior approach, OR 2.80 (95% CI 2.4 to 3.2; p < 0.001), and postoperative dysphagia (OR 2.50 (95% CI 1.8 to 3.4); p < 0.001) were associated with a significantly increased risk of further surgery two years postoperatively. A posterior approach (compared with a combined approach, OR 0.32 (95% CI 0.3 to 0.4); p < 0.001), the use of BMP (OR 0.48 (95% CI 0.4 to 0.5); p < 0.001) were associated with a significantly decreased risk of further surgery at this time. CONCLUSION: The surgical approach and intraoperative use of BMP strongly influence the risk of further surgery, whereas the comorbidity burden and the characteristics of the operation influence the rates of early complications in adult patients undergoing corrective cervical spinal surgery. These data may aid surgeons in patient selection and surgical planning. Cite this article: Bone Joint J 2021;103-B(4):734-738.


Assuntos
Vértebras Cervicais/anormalidades , Vértebras Cervicais/cirurgia , Procedimentos Neurocirúrgicos , Complicações Pós-Operatórias , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco
11.
Clin Genet ; 99(4): 565-571, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33410135

RESUMO

RIPPLY2 is an essential part of the formation of somite patterning during embryogenesis and in establishment of rostro-caudal polarity. Here, we describe three individuals from two families with compound-heterozygous variants in RIPPLY2 (NM_001009994.2): c.238A > T, p.(Arg80*) and c.240-4 T > G, p.(?), in two 15 and 20-year-old sisters, and a homozygous nonsense variant, c.238A > T, p.(Arg80*), in an 8 year old boy. All patients had multiple vertebral body malformations in the cervical and thoracic region, small or absent rib involvement, myelopathies, and common clinical features of SCDO6 including scoliosis, mild facial asymmetry, spinal spasticity and hemivertebrae. The nonsense variant can be classified as likely pathogenic based on the ACMG criteria while the splice variants must be classified as a variant of unknown significance. With this report on two further families, we confirm RIPPLY2 as the gene for SCDO6 and broaden the phenotype by adding myelopathy with or without spinal canal stenosis and spinal spasticity to the symptom spectrum.


Assuntos
Vértebras Cervicais/anormalidades , Disostoses/congênito , Proteínas Repressoras/genética , Alelos , Criança , Códon sem Sentido , Disostoses/genética , Disostoses/patologia , Face/anormalidades , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Mutação de Sentido Incorreto , Sítios de Splice de RNA , Costelas/anormalidades , Escoliose/genética , Somitos/patologia , Medula Espinal/anormalidades , Estenose Espinal/genética , Sequenciamento do Exoma
12.
Surg Radiol Anat ; 43(1): 117-125, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32914225

RESUMO

PURPOSE: To compare cervical vertebral anomalies and sella turcica bridging (STB) in different growth stages in orthodontic patients with different vertical skeletal growth patterns. METHODS: Lateral cephalometric radiographs (LCR) of 270 patients in the preadolescent, adolescent, or postadolescent periods and having low angle [LA], normal angle [NA], or high-angle [HA] vertical skeletal growth patterns were evaluated retrospectively. STB was visualized using LCRs while evaluating the deficiency of ponticulus posticus (PP) and atlas posterior arch (PAA) associated with the atlas bone. The Pearson chi-square and Fisher's exact tests were used for categorical data and one-way ANOVA for numerical data. RESULTS: The prevalence of fully calcified PP and STB increased from the preadolescent (PP, 10.0%; STB, 11.1%) to the postadolescent period (PP, 24.4; STB, 21.1%); they did not differ from vertical skeletal growth patterns (p > 0.05). The prevalence of PAA deficiency is significantly higher in individuals with LA (46.7%) than with other angles (NA, 27.8%; HA, 26.7%). The vertical skeletal growth pattern was significantly related to STB in the preadolescent period and PAA in the postadolescent period. CONCLUSIONS: Different anomalies during different growth periods correlate with the vertical skeletal growth pattern. It will be useful to evaluate a different anomaly according to the relevant growth period.


Assuntos
Vértebras Cervicais/anormalidades , Doenças da Hipófise/diagnóstico por imagem , Sela Túrcica/anormalidades , Esqueleto/crescimento & desenvolvimento , Adolescente , Cefalometria , Vértebras Cervicais/diagnóstico por imagem , Criança , Feminino , Humanos , Masculino , Estudos Retrospectivos , Sela Túrcica/diagnóstico por imagem
13.
World Neurosurg ; 146: 163-165, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33220477

RESUMO

An adult with Sprengel deformity and Klippel-Feil syndrome associated with an omovertebral bone has rarely been reported in literature. The omovertebral bone is an abnormal cartilaginous connection between the scapula and the cervical spine. Limited cases have previously been reported in the literature describing surgical intervention when neurologic deficits such as cervical myelopathy or radiculopathy are present. In the present case, an omovertebral bone extended into the cervical lamina resulting in cervical myeloradiculopathy requiring resection of the bony anomaly and cervicothoracic fusion. The omovertebral bone as an etiology for radiculopathy or myelopathy is rarely seen in an adult population, and surgical decompression and fusion should be considered with this constellation of anomalies.


Assuntos
Vértebras Cervicais/anormalidades , Síndrome de Klippel-Feil/complicações , Escápula/anormalidades , Articulação do Ombro/anormalidades , Doenças da Medula Espinal/etiologia , Medula Cervical/patologia , Vértebras Cervicais/cirurgia , Anormalidades Congênitas , Feminino , Humanos , Pessoa de Meia-Idade , Escápula/cirurgia , Doenças da Medula Espinal/cirurgia , Fusão Vertebral/métodos
14.
Vet Rec ; 187(9): e79, 2020 Oct 31.
Artigo em Inglês | MEDLINE | ID: mdl-33033105

RESUMO

BACKGROUND: Abnormalities of the ventral lamina of the sixth cervical vertebra (AVL-C6) are thought to exert abnormal stress on the articular process joints (APJs) of the cervicothoracic junction. The aim of the study was to investigate the association between AVL-C6 and radiographic findings in the caudal cervical area and between clinical signs of neck pain and ataxia and radiographic findings. METHODS: Medical records of horses subjected to cervical radiography were reviewed. Horses were classified into those with neck pain (group C), those with ataxia (group A) and healthy horses (group H). Presence of AVL-C6 and increased size, dysplasia, remodelling, fragmentation and osteochondral fragment at the APJs (C5-T1) were recorded. Univariable logistic regression analysis was performed to identify the associations between explanatory and dependent variables. Variables with P<0.2 were included in the multivariable analysis. RESULTS: One hundred and sixteen horses were included (44 in group C, 29 in group A, 66 in group H); 24 of 116 horses had radiographic AVL-C6. Age, AVL-C6 and overall/C6-C7 increase in size remained in the final models. CONCLUSIONS: The presence of AVL-C6 and moderate/severe increase in size of the caudal cervical APJs increase the odds of showing neck pain and, if severe, ataxia.


Assuntos
Ataxia/veterinária , Vértebras Cervicais/anatomia & histologia , Doenças dos Cavalos/diagnóstico por imagem , Doenças dos Cavalos/patologia , Cervicalgia/veterinária , Animais , Ataxia/diagnóstico por imagem , Ataxia/etiologia , Ataxia/patologia , Estudos de Casos e Controles , Vértebras Cervicais/anormalidades , Vértebras Cervicais/diagnóstico por imagem , Feminino , Doenças dos Cavalos/etiologia , Cavalos/anormalidades , Cavalos/anatomia & histologia , Masculino , Cervicalgia/diagnóstico por imagem , Cervicalgia/etiologia , Cervicalgia/patologia
15.
Pediatr Neurosurg ; 55(3): 175-180, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32784308

RESUMO

BACKGROUND: Following the publication of the Management of Myelomeningocele study (MOMS), fetal repair of myelomeningocele (MMC) has become increasingly prevalent worldwide. However, limited case presentations exist illustrating the potential mechanical and embryological effects of fetal repair. We present a unique case report of a complex embryological cervicomedullary junction (CMJ) malformation and cerebellar hypoplasia following fetal repair of MMC. CASE DESCRIPTION: A 1-day-old female was referred to the paediatric neurosurgical team after having successful surgical intrauterine closure of MMC abroad at 25 weeks gestation. The patient was born by emergency caesarean section at 33 weeks gestation and had a ventricular-peritoneal shunt inserted at 25 days old due to resulting hydrocephalus. Neonatal MRI scans revealed a complex number of malformations that included a split cord located at the CMJ, hypoplasia of the cerebellum and vermis, and a Chiari type II malformation. CONCLUSION: It is possible that the clefting of the upper cervical spinal cord was undetected at preoperative MRI; however, this is unlikely given the antenatal images. It is our hypothesis that the malformation may have exhibited mechanical change after the repair, as the preoperative MRI showed only a Chiari II malformation without any of the complex abnormalities being present and the split cord was already there but not obvious. There are no existing reports of such a complex malformation following antenatal surgery in the literature. This should be further explored as more cases and trials become available.


Assuntos
Cerebelo/cirurgia , Vértebras Cervicais/cirurgia , Fetoscopia/métodos , Bulbo/cirurgia , Meningomielocele/cirurgia , Diagnóstico Pré-Natal/métodos , Malformação de Arnold-Chiari/complicações , Malformação de Arnold-Chiari/diagnóstico por imagem , Malformação de Arnold-Chiari/cirurgia , Cerebelo/diagnóstico por imagem , Vértebras Cervicais/anormalidades , Vértebras Cervicais/diagnóstico por imagem , Feminino , Humanos , Lactente , Recém-Nascido , Bulbo/anormalidades , Bulbo/diagnóstico por imagem , Meningomielocele/complicações , Meningomielocele/diagnóstico por imagem , Gravidez , Derivação Ventriculoperitoneal/métodos
16.
World Neurosurg ; 143: 18-22, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32652274

RESUMO

BACKGROUND: Patients with Klippel-Feil syndrome may present with neurologic complaints such as neck pain, radiculopathy and gait instability. Here we describe surgical management of a patient with congenital fusion of the occipital-cervical region and also block circumferential fusion of dens to T3 with spinal cord compression. This report is the first of its kind with such extensive fusion. CASE DESCRIPTION: Our patient was a 56 year-old female, who presented with neck pain and tingling in all extremities. On exam, she had a short neck, prominent jaw with extremely limited range of motion in neck and features of myelopathy. CT showed fusion of the dens to T3 vertebrae. Patient underwent sub-occipital craniectomy, C1 laminectomy and Occiput to T5 posterior fixation and fusion with neurologic improvement. CONCLUSION: This is the first reported case of Klippel-Feil syndrome with fusion of all cervical vertebrae down to T3. We recommend surgery for advanced cases of myelopathy or radiculopathy due to stenosis and spinal instability.


Assuntos
Vértebras Cervicais/diagnóstico por imagem , Síndrome de Klippel-Feil/diagnóstico por imagem , Estenose Espinal/diagnóstico por imagem , Vértebras Torácicas/diagnóstico por imagem , Articulação Atlantoccipital/diagnóstico por imagem , Articulação Atlantoccipital/cirurgia , Vértebras Cervicais/anormalidades , Vértebras Cervicais/cirurgia , Craniotomia , Descompressão Cirúrgica , Feminino , Humanos , Instabilidade Articular/diagnóstico por imagem , Instabilidade Articular/cirurgia , Síndrome de Klippel-Feil/complicações , Síndrome de Klippel-Feil/fisiopatologia , Síndrome de Klippel-Feil/cirurgia , Laminectomia , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Procedimentos Neurocirúrgicos , Osso Occipital/anormalidades , Osso Occipital/diagnóstico por imagem , Osso Occipital/cirurgia , Processo Odontoide/anormalidades , Processo Odontoide/diagnóstico por imagem , Processo Odontoide/cirurgia , Fusão Vertebral , Estenose Espinal/etiologia , Estenose Espinal/fisiopatologia , Estenose Espinal/cirurgia , Vértebras Torácicas/anormalidades , Vértebras Torácicas/cirurgia , Tomografia Computadorizada por Raios X
17.
Pediatr Ann ; 49(7): e313-e318, 2020 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-32674169

RESUMO

Congenital spine abnormalities are rare in the fetus and neonate. The illustrative case described in this article is unique as it depicts a neonate with prenatally diagnosed cervical spondyloptosis. Vertebral instability at any level of the spine, regardless of its etiology, is dangerous as it has the potential for neurologic involvement-making an early diagnosis and treatment paramount. Proper stabilization in the delivery room, transfer to the neonatal intensive care unit, and establishment of a multidisciplinary treatment plan are the mainstays of therapy. Diagnosis is usually obtained through computed tomography and magnetic resonance imaging performed during the fetal or, more commonly, neonatal period. Successful management is often accomplished in consultation with different pediatric subspecialists, particularly orthopedists and neurosurgeons. The definitive therapy is surgical intervention. Prognosis of this condition is dependent upon the severity of the malformation, time to stabilization, successful orthopedic and neurosurgical intervention, and proper adherence to follow-up. [Pediatr Ann. 2020;49(7):e313-e318.].


Assuntos
Imageamento por Ressonância Magnética/métodos , Diagnóstico Pré-Natal/métodos , Espondilólise/congênito , Espondilólise/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Adulto , Braquetes , Vértebras Cervicais/anormalidades , Vértebras Cervicais/diagnóstico por imagem , Vértebras Cervicais/cirurgia , Feminino , Humanos , Lactente , Recém-Nascido , Gravidez , Fusão Vertebral/métodos , Espondilólise/cirurgia
18.
Neurology ; 95(13): e1830-e1834, 2020 09 29.
Artigo em Inglês | MEDLINE | ID: mdl-32690796

RESUMO

OBJECTIVE: To describe a pediatric stroke syndrome with chronic focal vertebral arteriopathy adjacent to cervical abnormalities. METHODS: At a single pediatric stroke center, we identified consecutive children with stroke and vertebral arteriopathy of the V3 segment with adjacent cervical bony or soft tissue abnormalities. We abstracted clinical presentation, treatment, and follow-up data from medical charts. RESULTS: From 2005 to 2019, 10 children (all boys, ages 6-16 years) presented with posterior circulation strokes and vertebral arteriopathy with adjacent cervical pathology. Two children had bony abnormalities: one had a congenital arcuate foramen and one had os odontoideum with cervical instability. In children without bony pathology, vertebral artery narrowing during contralateral head rotation was visualized by digital subtraction angiography. Eight boys had recurrent ischemic events despite anti-thrombotic treatment (including 5 with multiple recurrences) and were treated surgically to prevent additional stroke. Procedures included vertebral artery decompression (n = 6), endovascular stent and spinal fusion (n = 1), and vertebral artery endovascular occlusion (n = 1). In boys treated with decompression, cervical soft tissue abnormalities (ruptured atlantoaxial bursa, ruptured joint capsule, or connective tissue scarring) were directly visualized during open surgery. No other etiology for stroke or dissection was found in any of the cases. Two boys without recurrent stroke were treated with activity restriction and antithrombotics. At a median follow-up of 51 months (range 17-84), there have been no additional recurrences. CONCLUSIONS: Children with V3 segmental vertebral arteriopathy frequently have stroke recurrence despite antithrombotics. Cervical bone imaging and angiography with neck rotation can identify underlying pathology.


Assuntos
Acidente Vascular Cerebral/patologia , Artéria Vertebral/patologia , Adolescente , Angiografia Digital , Vértebras Cervicais/anormalidades , Vértebras Cervicais/diagnóstico por imagem , Criança , Fibrinolíticos/uso terapêutico , Humanos , Masculino , Recidiva , Rotação , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/tratamento farmacológico , Procedimentos Cirúrgicos Vasculares/métodos
19.
Spine (Phila Pa 1976) ; 45(15): E917-E926, 2020 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-32675603

RESUMO

STUDY DESIGN: A retrospective study with prospectively-collected data. OBJECTIVE: To determine how type, location, and size of endplate lesions on magnetic resonance imaging (MRI) may be associated with symptoms and clinical outcomes after anterior cervical discectomy and fusion (ACDF). SUMMARY OF BACKGROUND DATA: Structural endplate abnormalities are important, yet understudied, phenomena in the cervical spine. ACDF is a common surgical treatment for degenerative disc disease; however, adjacent segment degeneration/disease (ASD) may develop. METHODS: Assessed the imaging, symptoms and clinical outcomes of 861 patients who underwent ACDF at a single center. MRI and plain radiographs of the cervical spine were evaluated. Endplate abnormalities on MRI were identified and stratified by type (atypical, typical), location, relation to operative levels, presence at the adjacent level, and size. These strata were assessed for association with presenting symptoms, patient-reported, and postoperative outcomes. RESULTS: Of 861 patients (mean follow-up: 17.4 months), 57.3% had evidence of endplate abnormalities, 39.0% had typical abnormalities, while 18.2% had atypical abnormalities. Patients with any endplate abnormality had greater odds of myelopathy irrespective of location or size, while sensory deficits were associated with atypical lesions (P = 0.016). Typical and atypical abnormalities demonstrated differences in patient-reported outcomes based on location relative to the fused segment. Typical variants were not associated with adverse surgical outcomes, while atypical lesions were associated with ASD (irrespective of size/location; P = 0.004) and reoperations, when a large abnormality was present at the proximal adjacent level (P = 0.025). CONCLUSION: This is the first study to examine endplate abnormalities on MRI of the cervical spine, demonstrating distinct risk profiles for symptoms, patient-reported, and surgical outcomes after ACDF. Patients with typical lesions reported worsening postoperative pain/disability, while those with atypical abnormalities experienced greater rates of ASD and reoperation. This highlights the relevance of a degenerative spine phenotypic assessment, and suggests endplate abnormalities may prognosticate clinical outcomes after surgery. LEVEL OF EVIDENCE: 3.


Assuntos
Vértebras Cervicais/anormalidades , Vértebras Cervicais/diagnóstico por imagem , Pessoas com Deficiência , Discotomia/efeitos adversos , Degeneração do Disco Intervertebral/diagnóstico por imagem , Dor Pós-Operatória/diagnóstico por imagem , Fusão Vertebral/efeitos adversos , Adulto , Vértebras Cervicais/cirurgia , Discotomia/tendências , Feminino , Seguimentos , Humanos , Degeneração do Disco Intervertebral/etiologia , Degeneração do Disco Intervertebral/cirurgia , Imageamento por Ressonância Magnética/tendências , Masculino , Pessoa de Meia-Idade , Dor Pós-Operatória/etiologia , Dor Pós-Operatória/cirurgia , Estudos Prospectivos , Reoperação/tendências , Estudos Retrospectivos , Fusão Vertebral/tendências
20.
World Neurosurg ; 141: e645-e650, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32522653

RESUMO

OBJECTIVE: To evaluate the differences in surgical outcomes of patients with cervical spondylotic myelopathy with and without congenital cervical spinal stenosis (CCSS). METHODS: Institutional review board approval was obtained to conduct a retrospective chart review of patients with cervical spondylotic myelopathy who underwent decompression and fusion surgeries from 2010-2016 at a single institution. CCSS was identified using the Torg-Pavlov ratio on lateral cervical radiographs. Pre- and postoperative outcome measures were assessed using the modified Japanese Orthopedic Association (mJOA) and the EuroQol 5-dimension questionnaire (EQ-5D). RESULTS: Of 208 patients, Torg-Pavlov ratio identified 85 patients with CCSS. There were no significant differences between the CCSS patient and control patient groups in EuroQol 5-dimension questionnaire and mJOA scores at all 4 designated time points in the study (preoperative, earliest postoperative, 6 month postoperative, and 1 year postoperative). Although not statistically significantly, there was a notable trend for patients with CCSS to be less likely to have mJOA-defined severe myelopathy at the postoperative (odds ratio [OR], 0.75; P = 0.38), 6 month postoperative (OR, 0.66; P = 0.20), and 1 year postoperative (OR, 0.64; P = 0.14) time points. CONCLUSIONS: Postoperatively, compared with non-CCSS patients, patients with congenital cervical stenosis reported equal quality of life for all markers. Our findings suggest that in patients with CCSS and relatively mild symptoms of myelopathy, equal consideration should be given for surgical intervention. The findings of this study warrant further large-scale, multi-institutional investigation to further understand the generalizability of these surgical outcome results.


Assuntos
Vértebras Cervicais/anormalidades , Vértebras Cervicais/cirurgia , Estenose Espinal/congênito , Estenose Espinal/cirurgia , Idoso , Vértebras Cervicais/diagnóstico por imagem , Estudos de Coortes , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Estenose Espinal/diagnóstico por imagem , Resultado do Tratamento
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