Surgical Intervention for Unstable Craniovertebral Junction Anomalies with Narrow C2 Pedicle.

OBJECTIVE: We sought to investigate and report a novel surgical technique of screws insertion and posterior surgical reduction, as well as explore its clinical results. METHODS: From September 2008 to September 2012, we treated 41 cases of unstable craniovertebral junction anomalies with a narrow C2 pedicle at our department. All patients underwent "posterior reduction and internal fixation of the occipital bone with superior or inferior articular process of C2 and lateral mass of C3 on the narrowed C2 pedicle side-for non-narrowed C2 pedicle side, the screw was only inserted into C2 pedicle without extending the fixation to C3 vertebrae-using a titanium screw-rod (plate) fixation system." The preoperative and postoperative atlantodens interval, Chamberlain line, McRae line, and cervicomedullary angle were all measured. In addition, the preoperative and postoperative Japanese Orthopedic Association score was used to evaluate the cervical myelopathy. RESULTS: A total of 134 screws were inserted into the C2 pedicle (30 screws), superior (35 screws) or inferior (17 screws) articular process of C2, and lateral mass of C3 (52 screws). There was a significant statistical difference between the preoperative and postoperative results in the reduction of the odontoid process, decompression of the upper cervical spinal cord and medulla, as well as the improvement of neurologic functions (P < 0.05). All patients have exhibited a major neurologic improvement and solid bony fusion. CONCLUSION: This novel surgical technique is safe, feasible, and effective for the treatment of unstable craniovertebral junction anomalies with a narrow C2 pedicle.

Tratamiento de la siringomielia en pacientes con malformación de Chiari y craneosinostosis. Caso clínico y revisión de la bibliografía / Treatment of syringomyelia in patients with Chiari malformation and craniosynostosis. A case report and review of the literature

Introducción. Los pacientes con craneosinostosis complejas o unisuturales presentan frecuentemente malformación de Chiari y siringomielia. El tratamiento quirúrgico de la siringomielia en estos pacientes es controvertido. Caso clínico. Niña de 3 años con craneosinostosis compleja no corregida quirúrgicamente. Permaneció asintomática a pesar de que en la resonancia magnética craneal se evidenció una malformación de Chiari y un año después desarrolló una siringomielia cervicodorsolumbar. Se le realizó una craniectomía suboccipital descompresiva, pero posteriormente sufrió un empeoramiento de la siringomielia. El registro de presión intracraneal resultó patológico, por lo que se decidió realizar una craneotomía descompresiva frontoparietotemporal bilateral y remodelación de la bóveda craneal, con lo que se consiguió una disminución significativa de la siringomielia. Conclusiones. Tras la revisión de la bibliografía, se observa que actualmente no existe un consenso sobre el tratamiento de la siringomielia en los pacientes con craneosinostosis y malformación de Chiari. Algunos autores recomiendan la simultánea descompresión quirúrgica suboccipital y de la bóveda craneal, otros sólo la descompresión de la bóveda craneal, y otros la ampliación de la fosa posterior con distractores. En los casos en los que se realizó primero la descompresión suboccipital no se consiguió resolver ni estabilizar la siringomielia. Concluimos que el tratamiento más eficaz para los pacientes con siringomielia y craneosinostosis es la remodelación descompresiva de la bóveda craneal, ya que el principal factor causante de la siringomielia es la hipertensión intracraneal y la falta de distensibilidad del cráneo (AU)

Introduction. Patients with multisutural or single craniosynostosis, often suffer from Chiari malformation and syringomyelia. The surgical management of syringomyelia in these patients is controversial. Case report. A 3-year-old girl was referred with complex craniosynostosis that had not been corrected surgically. She was asymptomatic despite the cranial MRI showed a Chiari malformation and one year later she developed a cervico-dorsolumbar syringomyelia. She underwent a decompressive suboccipital craniectomy but subsequently suffered a worsening of syringomyelia. The intracranial pressure monitoring was pathological so it was decided to perform a decompressive bilateral fronto-parieto-temporal craniotomy and remodeling of the cranial vault, achieving a significant reduction of syringomyelia. Conclusions. After reviewing the literature, it is noted that there is currently no consensus on the treatment of syringomyelia in patients with craniosynostosis and Chiari malformation. Some authors recommend the simultaneous surgical suboccipital and cranial vault decompression, others only decompression of the cranial vault and other enlargement of the posterior fossa with distractors. In cases where the suboccipital decompression was performed first, the syringomyelia was not improved or stabilized. We conclude that the most effective treatment for patients with syringomyelia and craniosynostosis is decompressive remodeling of the cranial vault, as the main cause of syringomyelia is the raised intracranial pressure and lack of skull compliance (AU)

Vertebral, rib, and intraspinal anomalies in congenital scoliosis: a study on 202 Caucasians.

PURPOSE: To investigate vertebral, rib and intraspinal anomalies in patients with congenital scoliosis and their association with each other METHODS: Clinical data and preoperative imaging studies of 202 Caucasians with congenital scoliosis operated on at an educational hospital within 6 years were reviewed for vertebral, rib, and intraspinal anomalies. RESULTS: Rib and intraspinal anomalies were present in 57.4 and 21.8 % of patients, respectively. Most vertebral anomalies were located in the middle-lower thorax. Being the most common vertebral defect (53.5 %), failure of segmentation was significantly more common in males, whereas mixed defects were more frequent in females. Formation and mixed defects were associated with rib changes. Vertebral anomalies were more extensive in males than in females. The presence of multiple hemivertebrae was associated with rib deformity and intraspinal anomaly. Location of the vertebral anomalies varied with gender and rib involvement. Majority of rib changes were of simple type (70.7 %), significantly more common in males. Conversely, females had significantly more fused and bifid ribs. Two most common intraspinal anomalies were diastematomyelia (36.4 %) and syringomyelia (18.2 %). Intraspinal anomalies were located most frequently in the upper and lower thoracic regions. Syringomyelia and low conus were associated with female gender, and patients with rib changes suffered from intraspinal anomalies more frequently. No significant association was found between vertebral and intraspinal anomalies. CONCLUSIONS: The incidences of rib and intraspinal anomalies were 57.4 and 21.8 % in surgical Caucasians with congenital scoliosis, respectively. Unlike vertebral and intraspinal anomalies, rib and intraspinal anomalies were significantly associated. Male gender and intraspinal anomaly were associated with some previously suggested risk factors of curve progression.

Familial adhesive arachnoiditis associated with syringomyelia.

Adhesive arachnoiditis is a rare condition, often complicated by syringomyelia. This pathologic entity is usually associated with prior spinal surgery, spinal inflammation or infection, and hemorrhage. The usual symptoms of arachnoiditis are pain, paresthesia, and weakness of the low extremities due to the nerve entrapment. A few cases have had no obvious etiology. Previous studies have reported one family with multiple cases of adhesive arachnoiditis. We report a second family of Belgian origin with multiple cases of arachnoiditis and secondary syringomyelia in the affected individuals.

Changes over time in craniocerebral morphology and syringomyelia in cavalier King Charles spaniels with Chiari-like malformation.

BACKGROUND: Chiari-like malformation (CM) and syringomyelia is a neurological disease complex with high prevalence in cavalier King Charles spaniels (CKCS). The natural progression of this disease with time has not been described. The objectives of this study were to i) determine if syringomyelia progresses with time ii) determine if features of craniocrebral morphology previously associated with CM are progressive (including caudal cranial fossa volume, caudal cranial fossa parenchymal volume, ventricular dimensions, height of the foramen magnum and degree of cerebellar herniation). A retrospective morphometric analysis was undertaken in 12 CKCS with CM for which repeat magnetic resonance images were available without surgical intervention. RESULTS: The maximal syrinx width, height of the foramen magnum, length of cerebellar herniation and caudal cranial fossa volume increased over time. Ventricular and caudal fossa parenchymal volumes were not significantly different between scans. CONCLUSIONS: The results of this study suggest that syringomyelia progresses with time. Increased caudal cranial fossa volume may be associated with active resorption of the supraoccipital bone, which has previously been found in histology specimens from adult CKCS. We hypothesise that active resorption of the supraoccipital bone occurs due to pressure from the cerebellum. These findings have important implications for our understanding of the pathogenesis and variable natural clinical progression of CM and syringomyelia in CKCS.

A case of split notochord syndrome: an adult with a spinal endodermal cyst mimicking an intramedullary tumor.

Intraspinal endodermal cysts are very rare congenital cysts, usually composed of a thin-walled cyst the lining of which mimics gastrointestinal or respiratory epithelium. Diagnosis is usually established during the first or second decade of life. These cysts are frequently associated with vertebral or spinal cord abnormalies and dual malformation with mediastinal or abdominal cysts. Collectively, they are called split notochord syndrome. The authors describe their experience in the treatment of a 57-year-old man having an endodermal cyst mimicking an intramedullary tumor at the level of Th1-2. He was admitted to our institution for evaluation of an intraspinal mass diagnosed by MRI at a local hospital after experiencing temporary numbness and weakness of the lower left extremity. T1-weighted sagittal MRI demonstrated the lesion with signal intensity iso- to slightly hypointense to the spinal cord without enhancement after administration of gadolinium. Although T2-weighted sagittal images demonstrated as hyperintense to the spinal cord, axial images revealed a passage between the mass and subarachnoid space. We could not completely rule out the presence of an intramedullary tumor and undertook a laminectomy with a posterior approach. Histopathological analysis revealed an endodermal cyst and the authors found syringomyelia, which was clearly separated from the cyst in the preoperative sagittal MRI and intraoperative ultrasonography study. To the best of our knowledge, this is the first report in the English literature of a thoracic endodermal cyst requiring differential diagnosis from a spinal cord tumor.

Presacral masses in children: presentation, aetiology and risk of malignancy.

AIM: The risk of malignant changes in presacral tumours in children was investigated in relation to age at diagnosis, type of presentation and origin of the tumour. METHOD: A retrospective review was carried out in 17 patients surgically treated for congenital presacral masses over a 22-year period. RESULTS: Constipation was the main symptom in 14 (82%) of 17 patients. The lesions were evident on digital examination in 14 patients. Mature teratoma (n = 9, 64%) was the most common lesion, including three malignancies. Currarino syndrome was diagnosed in 10 (71%) patients. Two unclassified variant HLXB9 gene mutations were found in five (29%) patients who underwent genetic testing. CONCLUSION: Congenital presacral tumours in children were mostly mature teratomas, either as sacrococcygeal teratomas or as part of the Currarino syndrome. The risk of malignancy in patients older than 1 year necessitates early surgical resection.

Bilateral brachial plexus palsy and right Horner syndrome due to congenital cervicothoracal syringomyelia.

Syringomyelia (SM) is a disorder in which a cyst forms within the spinal cord. This cyst, called a syrinx, expands and elongates over time, destroying the center of the cord. Horner syndrome is an infrequent illness caused by a lesion of the cervical sympathetic nerve fiber. Its clinical features are facial anhidrosis, ptosis, miosis, and hypochromia iridis of the affected side. A full-term male newborn infant was admitted with weakness in bilateral upper extremities and narrowing of the palpebral fissure on the right side. Ophthalmologic examination revealed a smaller right pupil. Muscle power in bilateral upper limbs was 1/5. Chest X-ray and cranial magnetic resonance imaging were normal. Magnetic resonance imaging of the cervicothoracic spine showed SM at C4-T2 level. Electromyographic examination revealed bilateral brachial plexus palsy. The diagnosis was of brachial plexus palsy and congenital Horner syndrome due to congenital cervicothoracic SM. According to our best knowledge, this association has not been reported in the literature.

More than skin deep: a case of congenital lamellar ichthyosis, lymphatic malformation, and other abnormalities.

Consanguinity allows for the expression of rare genetic disorders. We present the first case of an infant, born to consanguineous parents, with congenital lamellar ichthyosis, congenital lymphatic malformation, congenital hypothyroidism, bilateral megaureter, benign external hydrocephalus, and syrinx of the spinal cord. We review the disorders, examine their genetic causes, and explore the genetic connection among them.

Scoliosis associated with syringomyelia: clinical and radiologic correlation.

STUDY DESIGN: A retrospective review with statistical correlations of 112 patients having both scoliosis and syringomyelia was performed. OBJECTIVE: To determine whether there were significant correlations between the type of scoliosis, location of the syrinx, size of the syrinx, clinical manifestation of the syrinx, and associated lesions such as cord tethering and Chiari malformation (Chiari I or Arnold-Chiari II). SUMMARY OF BACKGROUND DATA: The coexistence of scoliosis and syringomyelia has been described previously, but these detailed correlations have had minimal attention. METHODS: All patients at the center with scoliosis of any type plus a syrinx had a detailed chart and radiologic review coupled with detailed statistical analysis. RESULTS: Scoliosis and syringomyelia were seen in four diagnoses: myelomeningocele, myelomeningocele with congenital scoliosis, congenital scoliosis, and scoliosis with neither congenital anomalies nor myelomeningocele. Chiari malformation and cord tethering appear to have a major relation to scoliosis with syringomyelia. CONCLUSIONS: Anomalies of the spinal cord or spinal column coexisting with lesions of the central nervous system have significant effects on the syrinx and scoliosis. There is a significant relation between the most caudal level of the syrinx and the locations of the scoliosis.

Evaluating congenital spine deformities for intraspinal anomalies with magnetic resonance imaging.

SUMMARY: The incidence of intraspinal abnormalities associated with congenital spinal anomalies as detected by magnetic resonance imaging (MRI) is becoming better defined. In this study, 41 nonrandomized children with congenital spinal deformities (excluding myelomeningocele) who underwent complete MR evaluation were reviewed. Of the 41 congenital spinal deformities, 37 demonstrated congenital scoliosis, with failure of formation in 19, failure of segmentation in 4, and mixed defects in 14. The remaining four deformities were cases of congenital kyphosis. Thirteen patients with congenital spine anomalies were noted to have intraspinal abnormalities identified by MRI: tethered cord in 12 patients, syringomyelia in 3 patients, and diastematomyelia in 5 patients. Of the 12 patients with tethered cord, 2 patients had neurologic deficits. Urorectal anomaly was one of the most common associated findings (15%). Considering an incidence of intraspinal anomalies of 31% and as clinical manifestations may not be initially detectable, MRI is recommended in patients with congenital spinal deformity as part of the initial evaluation even in the absence of clinical findings.

[Neuroembryologic considerations on the so-called malformative syringomyelia]. / Réflexions d'un neuro-embryologiste à propos de la syringomyélie dite malformative.

Modern neuroradiological techniques can evidence the presence of liquid-filled spaces within the spinal cord, called syringomyelia. These lesions may be associated with numerous causes, the most frequent of which is an abnormality of the shape of the posterior fossa. Neuropathological analysis of these cavities demonstrates whether they are completely lined by ependymal cells or not. Comparing neuropathological and embryological data suggests that syringomyelia is a secondary deformation affecting a normally-formed spinal cord. The unique case in which such a cavity is really a primary malformation is the so-called myelocytocele. The most frequently encountered lesion associated with syringomyelia is the Chiari abnormality (either type I or II). In this case, the size of the posterior fossa is too small whereas neural elements are normal. Since Chiari abnormality may be familial, some genes are likely to be involved for its generation. In experimental animals, it has been shown that genes belonging to the Hox family or the Mhox gene control the development of the final shape of the occipital bone. Syringomyelia is thus a secondary event affecting the spinal cord and due to a distant cause.

[Correlations between clinical deficits, motor and sensory evoked potentials and radiologic aspects of MRI in malformative syringomyelia. 27 Cases]. / Corrélations entre déficits cliniques, potentiels évoqués moteurs et sensitifs, et aspects radiologiques à l'IRM dans la syringomyélie malformative. A propos de 27 cas.

Twenty-seven patients (15 males, 12 females, age range: 16-66 years) were admitted for malformative syringomyelia diagnosed on MRI with measures of syrinx extending and transverse diameter. Posterior tibial somatosensory evoked potentials (PT SEP), median (M SEP), trigeminal (V3 SEP), brain stem auditory evoked potentials (BEAP), cortical and cervical motor evoked potentials (MEP) were correlated with clinical and radiological findings. SEP abnormalities were not correlated with the duration of symptoms. PT SEP proved to be more sensitive than M SEP. MEP abnormalities were very frequent (87% of the cases), even without clinical motor deficits. Trigeminal SEP were more sensitive than BEAP which were not related to the presence of associated cranio-vertebral abnormalities. We found no significative relationship between clinical and radiological results. Moreover, there was a positive relationship between electrophysiological and radiological results: abnormal trigeminal SEP were detected in 85% of the patients with high cervical syringomyelia. In all cases, trigeminal SEP and MEP should be done in association with M and PT SEP as both of them detect subclinical evidence of spinal cord dysfunction in syringomyelia.

[Minor cranio-cervical injuries, cerebral malformations and chronic headaches]. / Traumatisme cranio-cervical mineur, malformation cérébrale et céphalées chroniques.

We have presented two cases of chronic disabling exertional headaches following a minor head trauma. MRI studies of the cranio-cervical junction showed Chiari Type I malformation, without bony occipito-cervical dysplasia. Headaches after a mild trauma are a common finding. The exertional character of the headache can lead the clinician to his diagnosis in cases involving long-term complaints.

Congenital muscular dystrophy with syringomyelia.

We report a 7-year-old boy with congenital muscular dystrophy with severe spinal deformation and low thoracic syringomyelia, which may represent a novel form of the disease with muscle involvement and spinal cord anomaly. We suggest that patients with congenital muscular dystrophy who manifest skeletal anomalies undergo spinal magnetic resonance imaging to detect potential spinal cord abnormalities, in addition to cranial magnetic resonance imaging to detect potential cerebral malformations.

Syringomyelia: clinical observations and experimental studies.

Although cavitary lesions of the spinal cord have been recognized for centuries, only recently have effective, noninvasive imaging techniques allowed antemortem diagnosis of this clinical syndrome. Methods of treatment have not been consistently successful in alleviating or reversing the clinical symptoms caused by these cystic lesions. Incomplete understanding of the underlying pathologic basis for the syringes has impeded the development of effective methods of treatment. This review documents historical considerations regarding clinical observations and experimental studies of this entity and the animal models that have been reported for each of the major types of syringomyelia. Recent studies have suggested that development of a relevant animal model of posttraumatic syringomyelia is imminent. Successful development of an experimental model will not only permit definition of the pathogenesis of cyst formation but also provide methods for testing of therapeutic interventions.