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Charlevoix-Saguenay의 상염색체열성강직실조
봉정빈,김승우,이승태,최종락,신하영 대한신경과학회 2019 대한신경과학회지 Vol.37 No.1
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), which is caused by mutations in SACS gene, is a very rare neurodegenerative disorder characterized by the clinical triad of early onset cerebellar ataxia, pyramidal tract features, and sensorimotor polyneuropathy. Herein, we report a 35-year-old Korean male who presented with gait disturbance and lower extremity weakness. Neuroimaging and ophthalmologic evaluation revealed features consistent with ARSACS. Mutation in SACS gene was demonstrated in clinical exome sequence analysis and the patient was finally diagnosed as ARSACS.
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봉정빈(Jeong Bin Bong),강현구(Hyun Goo Kang) 한국산학기술학회 2017 한국산학기술학회논문지 Vol.18 No.8
뇌과관류증후군은 경동맥 스텐트 삽입술 또는 내막 절제술 시행 시 발생할 수 있는 드문 합병증으로 대사 요구량보다 관류가 더 많은 상태를 유발하는 다양한 기전에 의해 발생한다. 주 임상 증상은 편측성 두통, 고혈압, 발작 및 국소 신경계 결손이 있으며, 심한 경우 지주막하 출혈 및 뇌실질 출혈로 영구적 장애 또는 사망까지 유발할 수 있다. 일반적으로 뇌과관류증후군은 두개경유도플러, 관류 뇌자기공명영상 및 단일광자방출컴퓨터단층촬영으로 진단할 수 있다. 저자들의 연구에서는 내경동맥 스텐트 이후 확인한 혈관조영술에서 의미있는 정맥울혈 증상을 보여 뇌과관류증후군을 진단할 수 있었다. 환자는 증상성 양쪽 내경동맥 협착을 보이고 있었고, 협착으로 인해 곁순환 동맥들이 잘 발달하게 되었다. 이렇게 곁순환 동맥이 잘 발달된 상태에서 환자에게 내경동맥 스텐트를 삽입한 이후 대뇌 혈류량이 증가되며 혈류의 방향이 바뀌어 정맥 울혈이 생길 수 있으며, 경동맥 스텐트 삽입술 또는 내막 절제술 시행 이후 정맥울혈이 보일 시 뇌과관류증후군을 예측할 수 있다. 이 연구는 내경동맥 스텐트 삽입 후 바로 시행하는 혈관 조영술을 통해서 뇌과관류증후군을 확진할 수 있음을 보여준 1례의 보고이다. Cerebral hyperperfusion syndrome (CHS) is a rare complication that can occur when conducting stent insertion or endarterectomy in patients with carotid artery stenosis and is known to be caused by various mechanisms when the blood volume abruptly increases. The main clinical symptoms are unilateral headache, hypertension, seizure, and focal neurologic deficit. Subarachnoid hemorrhage and parenchymal hemorrhage may lead to permanent impairment or death in severe cases. CHS can be predicted by using transcranial Doppler, perfusion magnetic resonance imaging, and single photon emission computed tomography. In our case report, a patient developed CHS subsequent to significant venous congestion caused by carotid artery stent insertion. The patient had preexisting, symptomatic bilateral carotid artery stenosis. Venous congestion occurs when the direction of blood flow changes because of increased blood volume in patients with well-developed collateral vessels. We believe that CHS can be predicted from this finding. This study reports the possibility that CHS could be confirmed by cerebral angiography after insertion of the internal carotid stent.
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뇌부종이 있는 뇌경색 환자들에서 만니톨과 신부전의 연관성
추인성,봉정빈,안성환,김후원,김진호,강현구 대한신경집중치료학회 2016 대한신경집중치료학회지 Vol.9 No.2
Background: Renal failure is one of the most common side effects of mannitol. However, very little is known regarding the cause, incidence, risk factors, and outcome of mannitol-induced renal failure. The goal of this study is to determine the predicting factors of mannitol-induced renal failure. Methods: We retrospectively reviewed the medical records of all ischemic stroke patients who were treated with mannitol due to brain edema from January 2008 to December 2010 at Chosun university hospital. From among 125 patients, 25 patients who received mannitol for less than 3 days were excluded and 100 patients were selected. Furthermore, 15% or 25% mannitol was administered intravenously as an intermittent bolus and the maximum dose was less than 200 g/day. Renal failure was defined as an increase in the creatinine level of > 0.5 mg/dL if the baseline value was < 2 mg/dL or an increase in the creatinine level of > 1 mg/dL if the baseline value was > 2 mg/dL. Results: Fourteen patients (14%) were diagnosed as having mannitol-induced renal failure. Glucose level before the use of mannitol and peak osmolality during mannitol treatment were associated with renal failure in univariate analysis. In logistic regression analysis of suspected factors (P<0.1), independent predictive factors of mannitol-induced renal failure were glucose level before the use of mannitol, (odd ratio, 1.01; 95% CI, 1.00–1.03; P<0.043) and peak osmolality (odds ratio, 1.04; 95% confidence interval, 1.01–1.08, P=0.01). Conclusions: Strict glucose control before mannitol treatment may reduce the rate of occurrence of renal failure. However, the rate of recovery from renal failure was not confirmed in our study because of the short follow up period.
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