• Journal of Genetic Medicine
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• 제19권1호
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• pp.22-26
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• 2022

Cerebrotendinous xanthomatosis (CTX) is a rare genetic disease caused by a deficiency of enzymes for the synthesis of bile acid, resulting in the accumulation of cholestanol with reduced chenodeoxycholic acid (CDCA) production and causing various symptoms such as chronic diarrhea in infancy, juvenile cataracts in childhood, tendon xanthomas in adolescence and young adulthood, and progressive neurologic dysfunction in adulthood. Because oral CDCA replacement therapy can effectively prevent disease progression, early diagnosis and treatment are critical in CTX. This study reports the case of CTX in a 10-year-old male who presented with Achilles tendon xanthoma and mild intellectual disability. Biochemical testing showed normal cholesterol and sitosterol levels but elevated cholestanol levels. Genetic testing showed compound heterozygous variants of CYP27A1, c.379C>T (p.Arg127Trp), and c.1214G>A (p.Arg405Gln), which confirmed the diagnosis of CTX. The patient had neither cataracts nor other focal neurologic deficits and showed no abnormalities on brain imaging. The patient received oral CDCA replacement therapy without any adverse effects; thereafter, the cholestanol level decreased and no disease progression was noted. The diagnostic possibility of CTX should be considered in patients with tendon xanthoma and normolipidemic conditions to prevent neurological deterioration.

• Journal of Cerebrovascular and Endovascular Neurosurgery
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• 제26권1호
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• pp.37-45
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• 2024

Objective: To review the characteristics of distal middle cerebral artery (MCA) aneurysm treated by microsurgery, the detailed surgical options, and the clinical result. Methods: We retrospectively reviewed cerebral aneurysm in the M2 and M3 segments of the MCA surgically treated between January 2015 and December 2022. The demographic data, aneurysm-related findings, type of surgical approach, surgical technique, and clinical outcomes of the enrolled patients were analyzed. Results: Sixteen distal MCA aneurysms were treated with microneurosurgery (incidence, 1.0%; female, 12; mean age, 58.1 years; ruptured, three). Twelve aneurysms were in the M2 segment (insular segment), two aneurysms at the M2-M3 junction, and two aneurysms in the M3 segment (opercular segment). Twelve aneurysms were saccular (average size, 4.9 mm; multiplicity, 50%; average aneurysms, 3.0; partially thrombosed, 1; sidewall aneurysm, 2). Three aneurysms were fusiform, of which two were ruptured. Of the ruptured aneurysms, one was a ruptured dissecting aneurysm. The trans-sylvian and trans-sulcal approaches were used in fourteen and two patients, respectively. Neck clipping, wrap clipping, and surgical trapping were performed in twelve, one, and one patient, respectively. Proximal occlusion was performed in one patient. Bypass technique was required in two patients (neck clipping and proximal occlusion). The modified Rankin Score was 6 in the two patients with ruptured aneurysms. The remaining patients did not show further neurological deterioration after microneurosurgery. Conclusions: Distal MCA aneurysms had a high incidence of being diagnosed with multiple other aneurysms and were relatively non-saccular.

• Tuberculosis and Respiratory Diseases
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• 제55권5호
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• pp.499-505
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• 2003

연구배경 : 본 논문에서는 뇌 전이 병소의 발견에 있어서 고식적 조영증강 자기공명영상 기법과 비교하여 제한적 조영증강 자기공명영상의 유용성을 알아보고자 하였다. 방 법 : 1998년 4월부터 2002년 9월까지 뇌 전이의 여부를 알아보기 위해 고식적 뇌 자기공명영상올 시행한 폐암 및 기타 암으로 진단을 받은 47명의 환자를 대상으로 하였다. 47명의 환자에서 축상면 T1 강조영상, 축상면 조영증강 T1강조영상， 관상면 조영증강 Tl 강조영상을 포함하는 제한적 뇌 자기공명영상을 선정하여 뇌 전이 결절의 영상판독을 시도하고 이를 고식적 뇌 자기공명영상의 영상소견과 비교하여 뇌 전이 발견의 민감도, 특이도와 일치율을 알아보았다. 결 과 : 47명의 환자 중 고식적 조영증강 자기공명영상에서 43명이 뇌 전이가 있었고, 제한적 자기공명영상에서는 42명에서 뇌 전이를 발견하였다.(민감도=97.67%). 고식적 뇌 자기공명영상에서 뇌 전이가 없었던 4명의 환자는 제한적 뇌 자기공명영상에서도 모두 뇌 전이가 없었다.(특이도=100%) 제한적 뇌 자기공명영상과 고식적 뇌 자기공명영상은 Pearson correlation이 0.884(Confidence Interval: 99%)로 높은 일치율올 보였다. 결 론 : 제한적 뇌 자기공명영상은 적은 비용으로 뇌 전이 여부를 판정할 수 있는 방법으로 제한적 자기공명 영상은 고식적 자기공명영상에 비해 손색없는 진단율을 보이므로 증상이 있는 환자에서만 시행되어 왔던 뇌영상 조영을 무증상 환자에서도 뇌 전이의 여부를 알아보기 위해 시행할 수 있을 것이다.

• Journal of Korean Neurosurgical Society
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• 제30권11호
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• pp.1308-1313
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• 2001

Object : The goals of radiosurgery include preservation of neurological function and prevention of tumor growth. We document the results of gamma-knife radio-surgery for vestibular schwannoma. Method & Object : Eighty-two patients underwent stereotactic radiosurgery for an vestibular schwannoma from October, 1994 to December, 2000. Sixty-five of these patients were followed up for radiological and clinical evaluation. As pregamma-knife modality, surgical resection were done in 23 patients,and V-P shunt in 2 patients. Initial symptoms were headache(n=45), dizziness(n=16), tinnitus(n=17). While normal facial function(House-Brackmann grade 1) was present in 48 patients(73.8%), other patients showed grade 2 function in 8, grade 3 function in 7,and grade 4 function in 2. The Gardner/Robertson scale was used to code hearing function. Male to female ratio was 1:3. Mean tumor volume was $7.98cm^3$. Mean dose delivered to the tumor margin was 14.2Gy,and mean maximal dose was 28.3Gy. Results : Mean follow-up duration of 19.9 months. Thirty-five showed decrease(53.8%) in size, 19 patients(29.2%) stationary, 3(4.6%) initial decrease follow up increase, 5(7.6%) initial increase follow up decrease,and 59 patients (90.8%) were well controlled. Two patients experienced transient facial neuropathy, one transient trigeminal neuropathy, and one transient hearing deterioration. After gamma-knife radiosurgery, ventriculoperitoneal shunt was done in 4 patients. Conclusions : Gamma-knife radiosurgery can be used to treat postoperative residual tumors as well as in patients with concomitant medical problems in patients with preserved hearing function. Gamma-knife radiosurgery is safe and effective method to treat small, medium sized(less than 3cm in extracanalicular diameter), intracanalicular vestibular schwannoma, associated with low rate of cranial neuropathy.

• Journal of Korean Neurosurgical Society
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• 제50권2호
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• pp.99-102
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• 2011

Objective : The purpose of this retrospective study was to evaluate the outcome of gamma knife radiosurgery (GKRS) and/or whole brain radiation therapy (WBRT) for the treatment of small cell lung carcinoma (SCLC) metastasis to the brain. Methods : From 2000 to 2010, 50 patients underwent GKRS for metastatic brain lesions originating from SCLC. Among these patients, 11 received prophylactic cranial irradiation (PCI) before the development of metastatic lesions (PCI group), and GKRS was performed as an initial treatment for newly diagnosed lesions in 12 patients who had not received PCI (primary GKRS group). In addition, GKRS was performed as a salvage treatment for progressive lesions after WBRT in 27 patients (salvage GKRS group). The medical records and imaging data of all patients were retrospectively analyzed. Results : The overall survival of the 50 patients was 20.8 months (range 1-53) after the diagnosis of primary tumor and 12.0 months (range 1-47) after the development of cerebral metastasis. Median survival after GKRS was 4.8 months (range 1-15) in the PCI group, 4.6 months (range 0-18) in the primary GKRS group, and 7.6 months (range 0-33) in the salvage GKRS group. Further treatment for progressive lesions after GKRS was necessary in 15 patients, after a mean interval of 3.8 months. Causes of death were systemic organ failure in 15 patients, deterioration of neurological state in 13 patients, and unknown or combined causes in 16 patients. The local control rate of the lesions treated with GKRS was 76.4% (decreased in 13 patients and stable in 16 patients at the final imaging follow-up (mean 5.60 months). Conclusion : GKRS is an effective local treatment for brain metastasis from SCLC both as an initial treatment for newly diagnosed lesions after PCI and as a salvage treatment for recurrent or progressive lesions. However, the survival benefit is not significant because most patients die of systemic multi-organ failure with a short life expectancy.

• Journal of Korean Neurosurgical Society
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• 제29권10호
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• pp.1365-1371
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• 2000

악성 임파종중에서 Non-Hodgkin 임파종이 척수 압박 증상을 일으키는 경우는 0.1~10.2%정도로 알려져 있으며, 이러한 척수 압박 증세가 임파종의 초기 증상으로 나타나는 경우는 특히 드문 것으로 알려져 있다. 척수 압박은 척추관내에 국한되어 있는 임파종에 의하거나 주변 임파절이나 척추로부터 전이된 경우에 발생하며, 다른 장기로의 침범 소견이 없는 원발성 척수 경막외 임파종의 경우, 조기에 외과적 감압이 이루어지고 보조요법으로 항암 치료 및 방사선 치료가 행해진다면 그 경과가 비교적 양호한 것으로 알려져 있다. 저자들은 요통을 전구 증상으로, 급성 하반신 부전마비 및 배뇨 장애 소견을 보여 본원에 내원후, 응급 감압술 및 조직병리검사 결과 B-세포성 Non-Hodgkin 임파종으로 확인된 두 명의 여자환자를 경험하였다. 수술후 두 환자의 증세는 모두 회복되었으며, 항암 치료 및 방사선 치료후 현재까지 추적 조사중이다. 이에 저자들은 초기 증상으로 경막외 척수 압박을 보인 원발성 Non-Hodgkin 임파종에 관해 문헌 고찰과 함께 보고하는 바이다.

• Journal of Korean Neurosurgical Society
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• 제63권5호
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• pp.598-606
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• 2020

Objective : The purpose of this study was to evaluate the impact of time interval between index event and stenting on the periprocedural risk of stenting for symptomatic carotid stenosis and to determine the optimal timing of stenting. Methods : This retrospective study included 491 (322 symptomatic [65.6%] and 169 asymptomatic [34.4%]) patients undergoing carotid stenting. The symptomatic patients were categorized into Day 0-3, 4-7, 8-10, 11-14, 15-21, and >21 groups according to the time interval between index event and stenting. Periprocedural (≤30 days) risk for clinical (any neurological deterioration) and radiological (new infarction on postprocedural diffusion-weighted imaging) events of stenting in each time interval versus asymptomatic stenosis was calculated with logistic regression analysis adjusted for confounders, and provided as odds ratio (OR) and 95% confidence interval (CI). Results : Overall clinical event rate (4.3%) of stenting for symptomatic carotid stenosis was higher than that for asymptomatic stenosis (1.2%; OR, 3.979 [95% CI, 1.093-14.489]; p=0.036). Stenting in Day 0-3 (13.2%; OR, 10.997 [95% CI, 2.333-51.826]; p=0.002) and Day 4-7 (8.3%; OR, 6.775 [95% CI, 1.382-33.227]; p=0.018) was associated with high risk for clinical events. However, the clinical event rates in stenting after 7 days from index event (Day 8-10, 1.8%; Day 11-14, 2.5%; Day 15-21, 0%; Day >21, 2.9%) were not different from that in stenting for asymptomatic stenosis. Overall radiological event rate (55.6%) in symptomatic stenosis was also higher than that in asymptomatic stenosis (35.5%; OR, 2.274 [95% CI, 1.553-3.352]; p<0.001). The high risk for radiological events was maintained in all time intervals (Day 0-3 : 55.3%; OR, 2.224 [95% CI, 1.103-4.627]; p=0.026; Day 4-7 : 58.3%; OR, 2.543 [95% CI, 1.329-4.949]; p=0.005; Day 8-10 : 53.6%; OR, 2.096 [95% CI, 1.138-3.889]; p=0.018; Day 11-14 : 57.5%; OR, 2.458 [95% CI, 1.225-5.021]; p=0.012; Day 15-21 : 55.6%; OR, 2.271 [95% CI, 1.099-4.764]; p=0.028; Day >21 : 54.8%; OR, 2.203 [95% CI, 1.342-3.641]; p=0.002). Conclusion : This study showed that as stenting was delayed, the periprocedural risk for clinical events decreased. The clinical event risk was high only in stenting within 7 days and comparable with that for asymptomatic stenosis in stenting after 7 days from index event, although the radiological event risk was not affected by stenting timing. Therefore, our results suggest that delayed stenting after 7 days from symptom onset is a safe strategy for symptomatic stenosis.

• Journal of Korean Neurosurgical Society
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• 제50권4호
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• pp.332-340
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• 2011

Objective : Pyogenic spondylitis often results in acute neurological deterioration requiring adequate surgical intervention and appropriate antibiotic treatment. The purpose of this study was to conduct an analysis of the clinical effect of continuous irrigation via laminotomy in a series of patients with pyogenic spondylitis in thoracic and lumbar spine. Methods : The authors conducted a retrospective investigation of 31 consecutive patients with pyogenic thoracic and lumbar spondylitis who underwent continuous irrigation through laminotomy from 2004 to 2008. The study included 22 men and 9 women, ranging in age from 38 to 78 years (mean 58.1 years). The average follow-up duration was 13.4 months (range, 8-34 months). We performed debridement and abscess removal after simple laminotomy, and then washed out epidural and disc space using a continuous irrigation system. Broad spectrum antibiotics were administered empirically and changed according to the subsequent culture result. Clinical outcomes were based on the low back outcome scale (LBOS), visual analogue scale (VAS) score, and Frankel grade at the last follow-up. Radiological assessment involved plain radiographs, including functional views. Results : Common predisposing factors included local injection for pain therapy, diabetes mellitus, chronic renal failure, and liver cirrhosis. Causative microorganisms were identified in 22 cases (70.9%) : Staphylococcus aureus and Streptococcus spp. were the main organisms. After surgery, LBOS, VAS score, and Frankel grade showed significant improvement in most patients. Spinal stability was maintained during the follow-up period, making secondary reconstructive surgery unnecessary for all patients, except one. Conclusion : Simple laminotomy with continuous irrigation by insertion of a catheter into intervertebral disc space or epidural space was minimally invasive and effective in the treatment of pyogenic spondylitis. This procedure could be a beneficial treatment option in patients with thoracolumbar spondylitis combined with minimal or moderate destructive change of vertebrae.

• Clinical and Experimental Pediatrics
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• 제51권12호
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• pp.1342-1345
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• 2008

피질하 낭종을 동반한 거대뇌성 백질뇌병증은 뇌백질의 희귀성 질환으로 1990년대에 처음 보고되었다. 이는 자기공명 영상(MRI)에서 미만성의 백질 이상 및 다양한 정도로 발견되는 피질하 낭종과 함께 뇌의 종창을 보이는 것이 전형적이며, 이 병변은 특징적으로 대뇌 측두엽의 전반부를 침범하고, 심부의 뇌백질, 대뇌 기저핵, 시상과 소뇌는 상대적으로 보존되는 경향을 보인다. 피질하 낭종을 동반한 거대뇌성 백질뇌병증이 있는 환아는 큰 머리와 함께 운동 장애, 실조증, 강직과 인지 기능 장애 등의 신경학적 결함을 보인다. 저자들은 큰 머리와 함께 경련, 발달 지연, 뇌 MRI 의 T2 강조영상에서 양측성으로 전두, 측두, 두정엽에서 고신호강도의 백질 병변을 보이는 피질하 낭종을 동반한 거대뇌성 백질뇌병증에 합당한 소견을 보이는 20개월의 남자 환아를 경험하였기에 보고하는 바이다.

• Journal of Korean Neurosurgical Society
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• 제61권6호
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• pp.723-730
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• 2018

Objective : The aim of the present study was to identify whether the deformity angular ratio (DAR) influences the occurrence of complications after posterior vertebral column resection (PVCR) and to establish the DAR cut-off value. Methods : Thirty-six consecutive patients undergoing PVCR from December 2010 to October 2016 were reviewed. The relationships between the total, sagittal, and coronal DAR and complications were assessed using receiver operator characteristics curves. The patients were divided into two groups according to a reference value based on the cut-off value of DAR. Demographic, surgical, radiological, and clinical outcomes were compared between the groups. Results : There were no significant differences in the patient demographic and surgical data between the groups. The cut-off values for the total DAR (T-DAR) and the sagittal DAR (S-DAR) were 20.2 and 16.4, respectively (p=0.018 and 0.010). Both values were significantly associated with complications (p=0.016 and 0.005). In the higher T-DAR group, total complications (12 vs. 21, p=0.042) and late-onset complications (3 vs. 9, p=0.036) were significantly correlated with the T-DAR. The number of patients experiencing complications (9 vs. 11, p=0.029) and the total number of complications (13 vs. 20, p=0.015) were significantly correlated with the S-DAR. Worsening intraoperative neurophysiologic monitoring was more frequent in the higher T-DAR group (2 vs. 4) than in the higher S-DAR group (3 vs. 3). There was no difference in neurological deterioration between the groups after surgery. Conclusion : Both the T-DAR and the S-DAR are risk factors for complications after PVCR. Those who had a T-DAR >20.2 or S-DAR >16.4 experienced a higher rate of complications after PVCR.