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Dong-Ho Lee, Choon Sung Lee, Chang Ju Hwang, Jae Hwan Cho, Jae-Woo Park and Kun-Bo Park

OBJECTIVE

Vertebral body sliding osteotomy (VBSO) is a safe, novel technique for anterior decompression in patients with multilevel cervical spondylotic myelopathy. Another advantage of VBSO may be the restoration of cervical lordosis through multilevel anterior cervical discectomy and fusion (ACDF) above and below the osteotomy level. This study aimed to evaluate the improvement and maintenance of cervical lordosis and sagittal alignment after VBSO.

METHODS

A total of 65 patients were included; 34 patients had undergone VBSO, and 31 had undergone anterior cervical corpectomy and fusion (ACCF). Preoperative, postoperative, and final follow-up radiographs were used to evaluate the improvements in cervical lordosis and sagittal alignment after VBSO. C0–2 lordosis, C2–7 lordosis, segmental lordosis, C2–7 sagittal vertical axis (SVA), T1 slope, thoracic kyphosis, lumbar lordosis, sacral slope, pelvic tilt, and Japanese Orthopaedic Association scores were measured. Subgroup analysis was performed between 15 patients with 1-level VBSO and 19 patients with 2-level VBSO. Patients with 1-level VBSO were compared to patients who had undergone 1-level ACCF.

RESULTS

C0–2 lordosis (41.3° ± 7.1°), C2–7 lordosis (7.1° ± 12.8°), segmental lordosis (3.1° ± 9.2°), and C2–7 SVA (21.5 ± 11.7 mm) showed significant improvements at the final follow-up (39.3° ± 7.2°, 13° ± 9.9°, 15.2° ± 8.5°, and 18.4 ± 7.9 mm, respectively) after VBSO (p = 0.049, p < 0.001, p < 0.001, and p = 0.038, respectively). The postoperative segmental lordosis was significantly larger in 2-level VBSO (18.8° ± 11.6°) than 1-level VBSO (10.3° ± 5.5°, p = 0.014). The final segmental lordosis was larger in the 1-level VBSO (12.5° ± 6.2°) than the 1-level ACCF (7.2° ± 7.6°, p = 0.023). Segmental lordosis increased postoperatively (p < 0.001) and was maintained until the final follow-up (p = 0.062) after VBSO. However, the postoperatively improved segmental lordosis (p < 0.001) decreased at the final follow-up (p = 0.045) after ACCF.

CONCLUSIONS

Not only C2–7 lordosis and segmental lordosis, but also C0–2 lordosis and C2–7 SVA improved at the final follow-up after VBSO. VBSO improves segmental cervical lordosis markedly through multiple ACDFs above and below the VBSO level, and a preserved vertebral body may provide more structural support.

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Jin Woo Chang, Jae Young Choi, Young Sul Yoon, Yong Gou Park and Sang Sup Chung

✓ The purpose of this paper was to present two cases of secondary trigeminal neuralgia (TN) with an unusual origin and lesion location. In two cases TN was caused by lesions along the course of the trigeminal nerve within the pons and adjacent to the fourth ventricle. Both cases presented with typical TN. Brain magnetic resonance imaging revealed linear or wedge-shaped lesions adjacent to the fourth ventricle, extending anterolaterally and lying along the pathway of the intraaxial trigeminal fibers.

The involvement of the nucleus of the spinal trigeminal tract and of the principal sensory trigeminal nucleus with segmental demyelination are suggested as possible causes for trigeminal pain in these cases. It is postulated that these lesions are the result of an old viral neuritis. The patients underwent gamma knife radiosurgery and their clinical responses have been encouraging to date.

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Dong-Kyu Jang, Kwan-Sung Lee, Hyoung Kyun Rha, Pil-Woo Huh, Ji-Ho Yang, Ik Seong Park, Jae-Geun Ahn, Jae Hoon Sung and Young-Min Han

OBJECTIVE

In this study the authors evaluated whether extracranial-intracranial bypass surgery can prevent stroke occurrence and decrease mortality in adult patients with symptomatic moyamoya disease (MMD).

METHODS

The medical records of 249 consecutive adult patients with symptomatic MMD that was confirmed by digital subtraction angiography between 2002 and 2011 at 8 institutions were retrospectively reviewed. The study outcomes of stroke recurrence as a primary event and death during the 6-year follow-up and perioperative complications within 30 days as secondary events were compared between the bypass and medical treatment groups.

RESULTS

The bypass group comprised 158 (63.5%) patients, and the medical treatment group comprised 91 (36.5%) patients. For 249 adult patients with MMD, bypass surgery showed an HR of 0.48 (95% CI 0.27–0.86, p = 0.014) for stroke recurrence calculated by Cox regression analysis. However, for the 153 patients with ischemic MMD, the HR of bypass surgery for stroke recurrence was 1.07 (95% CI 0.43–2.66, p = 0.887). For the 96 patients with hemorrhagic MMD, the multivariable adjusted HR of bypass surgery for stroke recurrence was 0.18 (95% CI 0.06–0.49, p = 0.001). For the treatment modality, indirect bypass and direct bypass (or combined bypass) did not show any significant difference for stroke recurrence, perioperative stroke, or mortality (log rank; p = 0.524, p = 0.828, and p = 0.616, respectively).

CONCLUSIONS

During the treatment of symptomatic MMD in adults, bypass surgery reduces stroke recurrence for the hemorrhagic type, but it does not do so for the ischemic type. The best choice of bypass methods in adult patients with MMD is uncertain. In adult ischemic MMD, a prospective randomized study to evaluate the effectiveness and safety of bypass surgery to prevent recurrent stroke is necessary.

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Eun-Hee Kim, Mi-Sun Yum, Young-Shin Ra, Jun Bum Park, Jae Sung Ahn, Gu-Hwan Kim, Hyun Woo Goo, Tae-Sung Ko and Han-Wook Yoo

OBJECT

Moyamoya disease (MMD) is an idiopathic cerebrovascular occlusive disorder prevalent in East Asia. In the pathogenesis of MMD, the important role of genetic factors is being elucidated, and RNF213 has recently been identified as a susceptibility gene for MMD. The aim of this retrospective study was to investigate the RNF213 genotype in patients with MMD and to determine their genotype-phenotype associations.

METHODS

The study involved 165 Korean MMD patients from 155 unrelated families who were diagnosed with MMD at a single center from 1995 to 2013. Their demographic, radiological, and clinical findings were evaluated. Direct sequencing of the major RNF213 single nucleotide polymorphisms was performed. The association of the common RNF213 variant with MMD risk was evaluated using historical controls for comparison. Correlations between RNF213 genotype and phenotype were statistically analyzed.

RESULTS

The c.14429G>A (p.R4810K) variant was identified in 125 (75.8%) of 165 MMD patients. Most patients (112) were heterozygous, and 13 patients had 2 copies of the c.14429G>A variant. A novel heterozygous variant, c.12086A>G (p.Q4029R), was found in 1 additional patient. The minor allele frequency of the c.14429G>A variant was significantly higher in the MMD group (138 [41.8%] of 330 patients) than in the control group (8 [1.36%] of 588 subjects; p < 0.001). The c.14429G>A (p.R4810K) variant significantly increased the risk of MMD in Korean patients, with an OR of 52.11 (p < 0.001) compared with controls. Moreover, c.14429G>A (p.R4810K) genotypes occurred more frequently in patients with a family history of MMD. The homozygous variant was highly associated with early-onset MMD (age at onset < 5 years), cerebral infarction at diagnosis, and cognitive impairment in long-term outcome.

CONCLUSIONS

The findings indicate that the c.14429G>A (p.R4810K) allele of RNF213 is strongly associated with Korean patients with MMD. The homozygous c.14429G>A (p.R4810K) variant is particularly related to early-onset MMD, severe symptomatic manifestations at diagnosis, and poor prognosis. This genotypic variant may be a useful biomarker for early-onset MMD or unstable MMD with cerebral infarction, which requires early diagnosis and revascularization treatment.

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Bilateral vidian nerve schwannomas associated with facial palsy

Case report and review of the literature

Jin Hwan Cheong, Jae Min Kim, Koang Hum Bak, Choong Hyun Kim, Young Ha Oh and Dong Woo Park

✓ Intracranial schwannomas are relatively common benign tumors arising from Schwann cells. Among the cranial nerves, the vestibular division of the vestibulocochlear nerve is the site most commonly affected by these lesions, followed by the trigeminal nerve. The authors report a case of bilateral schwannomas arising from both of the pterygoid canals. A 13-year-old girl presented with intermittent headaches and left-sided facial palsy. Preoperative computerized tomography scans and magnetic resonance images revealed nonenhancing round masses within the bilateral vidian canals, bone erosion, and sclerosis. The transnasal transseptal transsphenoidal approach was used to remove the masses. Postoperatively, the patient recovered uneventfully. On histopathological examination, the masses were confirmed as schwannomas. The clinical presentation and probable histogenesis of schwannomas arising in this location are discussed together with a review of the literature.

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Hae Yu Kim, Won Seok Chang, Dong Joon Kim, Jae Whan Lee, Jin Woo Chang, Dong Ik Kim, Seung Kon Huh, Yong Gou Park and Jong Hee Chang

Object

Treatment of arteriovenous malformations (AVMs) is problematic due to many factors, including lesion size, lesion location, unacceptable complications, and negative outcomes. To overcome the limitation imposed by a large nidus volume, neurosurgeons have used Gamma Knife surgery (GKS) in a variety of ways, including combined with other treatment modalities, as volume-staged radiosurgery, and as repeat radiosurgery. We performed repeat radiosurgeries in patients who harbored large AVMs (> 30 cm3) and analyzed the AVM obliteration rates and complications.

Methods

The authors reviewed the cases of 44 patients at a single institution who underwent GKS between 1992 and 2007 for treatment of an AVM whose nidus was 30 cm3 or larger. The mean age of the patients was 27 years (range 4.5–62.3 years), and the median duration of follow-up was 109.4 months (range 27–202 months). The mean AVM nidus volume was 48.8 cm3 (range 30.3–109.5 cm3), and the mean radiation dose delivered to the margin of the nidus was 13.9 Gy (range 8.4–17.5 Gy). The authors determined complete AVM nidus obliteration based on findings on both MR images and digital subtraction angiograms. When they did not detect complete obliteration after GKS, they performed 1 or more additional GKSs separated by a minimum interval of 3 years.

Results

The overall obliteration rate following repeat GKS was 34.1%, and the estimated obliteration rate at 120 months was 41.8%. Three patients (6.8%) experienced hemorrhages after GKS, and 2 patients (4.5%) developed cysts. One patient (2.3%) experienced a newly developed seizure following GKS, and another patient (2.3%) was found to have radiation necrosis.

Conclusions

Even though complete obliteration of the large AVMs after repeat GKS took a long time, the complication rate was quite acceptable. In addition, the estimated obliteration rate at long-term follow-up was respectable. Repeat GKS should be considered as a primary treatment option for symptomatic large AVMs to overcome the limitation imposed on successful obliteration by the large volume of the nidus.

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Ji Hoon Phi, Jung Won Choi, Moon-Woo Seong, Tackeun Kim, Youn Joo Moon, Joongyub Lee, Eun Jung Koh, Seul Ki Ryu, Tae Hee Kang, Jae Seung Bang, Chang Wan Oh, Sung Sup Park, Ji Yeoun Lee, Kyu-Chang Wang and Seung-Ki Kim

OBJECTIVE

In a minority of patients with neurofibromatosis Type 1 (NF-1), cerebral vasculopathy reminiscent of moyamoya disease develops. This phenomenon is called moyamoya syndrome (MMS), but there are no known risk factors for the prediction of MMS in NF-1 patients. Polymorphism of the RNF213 gene has exhibited strong associations with familial and sporadic moyamoya disease and other cerebral vasculopathies. The aim of this study is to find whether the RNF213 c.14576G>A variant is associated with MMS development in the NF-1 population or not.

METHODS

The MMS group included 16 NF-1 patients with documented MMS. The control group consisted of 97 NF-1 patients without MMS. Genomic DNA samples were obtained from the saliva or blood of both groups, and the presence of the RNF213 c.14576G>A variant was assessed by Sanger sequencing.

RESULTS

In the MMS group, 3 patients had the RNF213 c.14576G>A variant (18.7%), whereas no patients with this genetic variation were observed in the control group (0%). There was a meaningful association between the RNF213 c.14576G>A variant and MMS development (p = 0.0024). The crude odds ratio was calculated as 50.57 (95% CI 1.57–1624.41). All 3 patients with MMS and the c.14576G>A variant were diagnosed with MMS at an early age and had bilateral involvement.

CONCLUSIONS

The RNF213 c.14576G>A variant is more common in NF-1 patients who develop MMS than in NF-1 patients without MMS. This variant might be a susceptibility gene for the NF-1–moyamoya connection.