A case report of deleterious SGCE myoclonus: dystonia successfully treated with pallidal deep brain stimulation

장혁,허륭,장일 대한정위기능신경외과학회 2023 대한정위기능신경외과학회지 Vol.19 No.2

SGCE (epsilon (ε)-sarcoglycan gene) myoclonus-dystonia (SGCE M-D) is a pleiotropic neuropsychiatric disorder with an autosomal dominant mode of inheritance, variable severity, and incomplete penetrance. There have been few reports of patients with SGCE M-D who have been successfully treated with deep brain stimulation (DBS). This case report presents a missense mutation (c.289>T) inherited in a Northeastern Asian family affected by SGCE M-D. The individuals with the condition exhibited clinical manifestations of generalized myoclonus accompanied by sustained cervical dystonia. A 38-year-old female had a history of generalized dystonia myoclonus with paroxysmal jerks for the past 10 years. The symptoms gradually worsened over the years, affecting her entire body and interfering with most of her daily activities. Genetic testing identified a single base deletion in exon 3 of the SGCE gene, which was considered the genotype underlying her phenotypic symptoms. After failed attempts with oral medications as an outpatient, she underwent DBS targeting the globus pallidus internus (GPI). Her symptoms significantly improved after the activation of the stimulator. Our case supports the beneficial effect of GPI-targeted DBS in patients who are unresponsive to oral medications and have a genetically confirmed M-D phenotype.

Meckel’s cave compression with Teflon for the treatment of idiopathic trigeminal neuralgia: its possibility as a modified surgical technique

박주인,류지욱,박창규,박봉진,이봉암,최석근 대한정위기능신경외과학회 2023 대한정위기능신경외과학회지 Vol.19 No.2

ObjectiveWe analyzed the clinical outcomes of Meckel’s cave compression with Teflon (Rhee’s method) as a new modified and additional surgical technique for trigeminal neuralgia (TN). MethodsBetween March 1996 and December 2014, out of 78 patients who were treated with microvascular decompression (MVD) or partial sensory root rhizotomy, 28 patients additionally underwent Meckel’s cave compression with Teflon. The mean age at initial treatment was 54.3 years (range: 40-69 years). The mean duration from onset to operation was 70.5 months (range: 5-360 months) and the mean follow-up period was 26 months (range: 1-77 months). ResultsFifteen patients (53.6%) had facial pain in the V2/V3 distribution. The offending or associating vessel was the superior cerebellar artery in four patients (14.3%), the superior petrosal vein in six (21.4%), the anterior inferior cerebellar artery in two (7.1%), multiple vessels in nine (32.1%), and miscellaneous arteries or veins in six (21.4%). One patient (3.6%) had no offending vessel, and seven patients were had no definite offending vessels that contacted the trigeminal root entry zone. Meckel’s cave compression with Teflon was applied to all patients: 10 (35.7%) in combination with MVD, one (3.6%) with partial rhizotomy, and 17 (60.7%) with both MVD and partial rhizotomy. TN was relieved in 26 patients (92.9%) and symptoms recurred in three patients. The complication rate of this method appeared to be similar to other treatment procedures. ConclusionMeckel’s cave compression with Teflon may be a safe and useful additional treatment procedure for TN.

Fahr disease presenting with multiple cerebral calcifications

구형모,윤상열,박성현 대한정위기능신경외과학회 2023 대한정위기능신경외과학회지 Vol.19 No.1

Fahr disease, also known as idiopathic basal ganglion calcification, is a rare and genetically heterogeneous neurological disorder. Herein, we report a rare case of Fahr disease presenting with multiple cerebral calcifications. A 63-year-old woman presented with dizziness to a local clinic. Brain computed tomography performed on admission revealed multiple high-intensity lesions in both basal ganglia, both cerebellar hemispheres, and the left frontal lobe. In contrast, brain magnetic resonance imaging (MRI) showed no prominent lesions on T2- and T1-weighted images, and there was no contrast enhancement after gadolinium injection. However, multiple dark signals were detected on gradient echo MRI. The location and radiological appearance of the lesion resembled those of a physiological intracranial calcification, except for asymmetric calcification in both cerebellar hemispheres and the left frontal subcortical white matter. The patient was diagnosed with basal ganglion calcification with multiple cerebral cavernous malformations or, less likely, brain tumors. Through a careful radiological and clinical review, the calcifications were diagnosed as Fahr disease. Follow-up was planned. It is important to consider the presence of multiple intracranial calcifications in the basal ganglia, cerebellum, or deep subcortical white matter as a warning sign for Fahr disease.

Huge occipital spindle cell lipoma: a case report

고경목,양나래,김영구 대한정위기능신경외과학회 2023 대한정위기능신경외과학회지 Vol.19 No.1

Spindle cell lipoma is a subtype of lipoma first defined by Enzinger and Harvey; it accounts for <1.5% of all lipomatous tumors. We present an unusual case of a huge spindle cell lipoma. A 49-year-old man with diabetes mellitus experienced neck pain during sleep because of a huge occipital and upper posterior neck mass that had slowly grown during 4 years. We performed local excision of the tumor, and pathological findings confirmed the diagnosis of spindle cell lipoma measuring 10×9.5×5 cm. There was no recurrence 1 year after the surgery.

Unexpected cardiac arrest in the neurosurgical ward

손준익,고명진,이영석,이신현,장주성,박용숙 대한정위기능신경외과학회 2023 대한정위기능신경외과학회지 Vol.19 No.1

ObjectiveThis study aimed to identify possible predictors of unexpected cardiac arrest (CA) in the neurosurgical ward. MethodsA retrospective review of 24 patients who experienced unexpected CA between January 2012 and March 2022 was conducted. Data on demographics, diagnoses, comorbidities, CA timing, pre-CA vital signs, transfer interval from intensive care unit (ICU) to ward, cardiac rhythm, neurological outcomes, and probable causes were collected. We excluded patients who died in the ICU and those with a do-not-resuscitate order. ResultsThe average age was 70.3 years. Vascular diseases and head traumas were common diagnoses. About 70.8% of arrests occurred during on-call time and 62.5% took place on weekends. The mean interval between ICU transfer and CA was 13.8±29.7 days, with 54.2% occurring within 4 days and 83.3% within 14 days. Pulseless electrical activity was the most frequent initial cardiac rhythm when CA occurred. Respiratory issues were the leading cause of CA (54.2%), and 91.7% of patients had poor neurological outcomes. Within 48 hours before CA, the average value of the lowest arterial oxygen saturation significantly deteriorated from 95.8±2.9% to 90.1±11.4%. ConclusionUnexpected CA often occurred on weekends and during night duty. Half of the cases took place within 4 days and over 80% within 2 weeks of transferring from the ICU to the ward, with respiratory problems being the main cause. Greater attention should be given to patients’ breathing patterns during night shifts and weekends, especially within the first 2 weeks after patients leave the ICU.

Radiation-induced change after Gamma Knife radiosurgery for cerebral arteriovenous malformations

이학수,김해유,이선일,우준범,진성철,김무성 대한정위기능신경외과학회 2023 대한정위기능신경외과학회지 Vol.19 No.1

ObjectiveRadiation-induced change (RIC) on magnetic resonance imaging after Gamma Knife radiosurgery (GKRS) for cerebral arteriovenous malformations (AVMs) is not rare. We reviewed patients who underwent GKRS for AVMs and analyzed the results and factors associated with RIC. MethodsWe reviewed 189 patients who underwent GKRS for AVMs between October 2002 and August 2017. All patients were followed up for at least 3 years. This study included 111 males and 78 females (mean age, 39.63 years; range, 3-79 years). Nineteen patients underwent pre-GKRS embolization. Seventy-six patients had ruptured AVMs and 113 had unruptured AVMs. We analyzed obliteration and RIC occurrence rates. Several demographic and clinical factors were analyzed to determine the influence of AVM obliteration on RIC occurrence. ResultsThe overall obliteration rate (OR) was 72.49% (137/189) at the final follow-up. The actuarial OR was 55.5% 36 months after GKRS. The overall RIC occurrence rate was 28.04% (53/189), and the actuarial RIC occurrence rate was 26.8% 24 months after GKRS. The OR showed a statistically significant difference according to AVM rupture (p<0.01) and sex (p<0.01). The RIC occurrence rate was significantly associated with AVM rupture (p<0.01), lesion volume (p=0.04), and treatment volume (p=0.03). Other factors showed statistically non-significant relationships. ConclusionThe overall OR after GKRS for AVMs was comparable to the results of other previous reports. RIC is a common postoperative outcome following GKRS for AVMs. In this study, the OR was higher in ruptured AVMs and male patients, whereas RIC occurred more frequently in larger and unruptured AVMs. KEY WORDS: Radiation, Radiosurgery, Arteriovenous malformations

Accuracy and safety of deep brain stimulation assisted by a neurosurgical robot attachable to the operating table

전수빈,조인제,윤진영,조진환,조경래,이정일 대한정위기능신경외과학회 2023 대한정위기능신경외과학회지 Vol.19 No.2

ObjectiveNeurosurgical robots have recently been introduced to assist in guiding trajectories to achieve accurate targeting. This study investigated the accuracy of robot-assisted deep brain stimulation (DBS) compared with conventional DBS using the Leksell arc system. MethodsBetween October 2020 and September 2021, 29 patients underwent DBS using the Leksell arc system, while from October 2021 to August 2022, 20 patients underwent DBS using a neurosurgical robot system (KYMERO; Koh Young Technology). Radial errors, total operative time (surgery time, preparation time), and clinical outcomes were compared between both groups through a retrospective analysis. ResultsRadial errors were significantly smaller in robot-assisted DBS (1.63±0.39 mm vs. 1.01±0.39 mm, p<0.01). Furthermore, the error of the second implantation was smaller than in the Leksell DBS group (0.216 vs. 0.005 mm, p<0.001). The total operative time of DBS with Leksell frame was 3.47 hours (range, 2.38-5.85 hours) and the surgery time was 2.21 hours (range, 1.08-4.67 hours), while the total operative time in the robot group was 3.92 hours (range, 2.75-5.85 hours) and the surgical time was 2.60 hours (range, 1.02-4.67 hours) (p=0.055, p=0.258, respectively). The clinical outcome did not show a significant difference according to the surgical method. ConclusionDBS with a robot-assisted system enables the accurate and consistent insertion of DBS electrodes with a lower error rate than the conventional method.

Results of microvascular decompression for hemifacial spasm for 23 years

최하영,고은정 대한정위기능신경외과학회 2023 대한정위기능신경외과학회지 Vol.19 No.2

ObjectiveHemifacial spasm (HFS) is characterized by unilateral tonic and/or clonic contractions of the facial muscles. The most frequent cause of HFS is neurovascular focal compression of the root exit zone of the facial nerve. Microvascular decompression (MVD) works well, with effects that last almost permanently. We analyzed the surgical outcomes and complications from the last 23 years at our institution. MethodsThis study analyzed 244 patients who underwent MVD between June 1998 and July 2021. All patients were followed up for more than 24 months. The preoperative image workups were brain magnetic resonance imaging, magnetic resonance angiography, and constructive interference in steady state (from 2009 onwards). Starting in July 2012, intraoperative monitoring was performed. Surgery was performed through the retrosigmoid approach by a single neurosurgeon. ResultsOut of 244 patients, 160 were female and 84 were male. The average age was 53.8 years (range, 19-78 years). In total, 226 patients (92.6%) completely recovered from HFS, two patients (0.8%) underwent reoperation, and complications occurred in 16 patients (6.6%). In 61 patients with preoperative facial palsy on the affected side, palsy improved in 56 patients (91.8%) and 12 patients (19.7%) had thick arachnoid membranes. ConclusionMVD has a durable effect on the improvement of HFS and may also improve HFS and concomitant palsy if preoperative facial palsy is present. Therefore, it is thought to be a treatment method that can be actively recommended to patients.

Recurrence of pediatric cerebral arteriovenous malformation after obliteration by radiosurgery: a case report

이태윤,남도경,장원석,문하용 대한정위기능신경외과학회 2023 대한정위기능신경외과학회지 Vol.19 No.2

The rupture of a cerebral arteriovenous malformation is the most common cause of cerebral hemorrhage in children, with recurrence rates reported to be higher than that in adults. Herein, we present the case of a 4-year-old child who initially demonstrated obliteration of a ruptured brain arteriovenous malformation after initial Gamma Knife radiosurgery, but subsequently experienced delayed recurrence, ultimately necessitating a second Gamma Knife radiosurgery procedure. By reviewing this case, we aim to explore considerations regarding the recurrence, treatment, and follow-up strategies for pediatric arteriovenous malformations.

The first treatment option for secondary trigeminal neuralgia: open surgery versus stereotactic radiosurgery

권유현,노해원,김종현 대한정위기능신경외과학회 2023 대한정위기능신경외과학회지 Vol.19 No.2

Trigeminal neuralgia (TN) is a condition involving oro-facial pain that causes patients to suffer and significantly impacts their quality of life. TN can generally be classified into three categories: classical, secondary, and idiopathic. Among these, secondary TN, which accounts for approximately 15% of cases, is attributed to identifiable neurologic diseases such as tumors and multiple sclerosis. Although the clinical features of classical and secondary TN are similar, secondary TN should be treated individually based on its underlying pathology. This paper presents a case of secondary TN induced by meningioma. The patient underwent Gamma Knife radiosurgery twice but showed no improvement in symptoms, ultimately leading to surgical removal of the tumor. The diagnosis-to-surgery time was 2 years. This case report discusses the first-line treatment options for secondary TN, with a focus on symptom relief.