• Annals of Clinical Neurophysiology
• /
• 제23권2호
• /
• pp.130-133
• /
• 2021

X-linked Charcot Marie Tooth disease type 1 (CMTX1) is a clinically heterogenous X-linked hereditary neuropathy caused by mutation of the gene encoding gap junction beta 1 protein (GJB1). Typical clinical manifestations of CMTX1 are progressive weakness or sensory disturbance due to peripheral neuropathy. However, there have been some CMTX1 cases with accompanying central nervous system (CNS) manifestations. We report the case of a genetically confirmed CMTX1 patient who presented recurrent transient CNS symptoms without any symptom or sign of peripheral nervous system involvement.

• Clinical and Experimental Pediatrics
• /
• 제59권10호
• /
• pp.395-401
• /
• 2016

Since the outbreak of the enterovirus 71 (EV71) infection in Malaysia in 1997, large epidemics of EV71 have occurred in the Asia-Pacific region. Many children and infants have died from serious neurological complications during these epidemics, and EV71 infection has become a serious public health problem in these areas. EV71 infection causes hand, foot and mouth disease (HFMD) in children, and usually resolves spontaneously. However, EV71 occasionally involves the central nervous system (CNS), and induces diverse neurological complications such as brainstem encephalitis, aseptic meningitis, and acute flaccid paralysis. Among those complications, brainstem encephalitis is the most critical neurological manifestation because it can cause neurogenic pulmonary hemorrhage/edema leading to death. The characteristic clinical symptoms such as myoclonus and ataxia, cerebrospinal fluid (CSF) pleocytosis, and brainstem lesions on magnetic resonance imaging, in conjunction with the skin rash of HFMD and the isolation of EV71 from a stool, throat-swab, or CSF sample are typical findings indicating CNS involvement of EV71 infection. Treatment with intravenous immunoglobulin and milrinone are recommended in cases with severe neurological complications from EV71 infection, such as brainstem encephalitis. Despite the recent discovery of receptors for EV71 in human cells, such as the scavenger receptor B2 and P-selection glycoprotein ligand 1, it is not known why EV71 infection predominantly involves the brainstem. Recently, 3 companies in China have completed phase III clinical trials of EV71 vaccines. However, the promotion and approval of these vaccines in various countries are problems yet to be resolved.

• 대한세포병리학회지
• /
• 제9권1호
• /
• pp.21-28
• /
• 1998

Cytologic evaluation of cerebrospinal fluid(CSF) is an effective tool in diagnosing many disorders involving the central nervous system(CNS). CSF examination has been found to be of particular value in the diagnosis of metastatic carcinoma, lymphomatous or leukemic involvement of CNS and certain primary CNS tumors. As a survey of metastatic tumors to CSF and an evaluation of the preparation techniques increasing cellular yield in our laboratory, 713 CSF specimens examined between July 1995 and April 1997(1 year 10 months), were reviewed. There were 75 positive and 5 suspicious cases, the latter have had no evidence of tumors clinically. Primary tumors of 75 positive cases were classified as follows; 4(5.3%) as primary brain tumors, 40(53.3%) as secondary carcinomas, 13(17.3%) as leukemias, and 18 (24.0%) as lymphomas. The most common primary site of metastatic carcinomas was the lung in 17 cases(42.5%) followed by the stomach in 13(32.5%), breast in 8 (20.0%), and unknown primary in 2(5.0%). Four primary brain tumors were 3 cerebellar medulloblastomas and a supratentorial primitive neuroectodermal tumor (PNET). All 40 metastatic carcinomas were adenocarcinoma presented as single cells or cell clusters. Although signet ring cells were frequent in the cases of gastric primary cancers, no significant cytologic differences according to the primary site were observed. The cytologic features of leukemia and lymphoma were characterized by hypercellular smears presenting as individual atypical cells with increased N/C ratio, presence of nucleoli, and nuclear protrusions. In medulloblastomas and PNET, the principal cytologic findings were small undifferentiated cells arranged singly or in loose clusters with occasional rosettoid features. This study suggests that the CSF cytology is useful in the diagnosis of malignancy, especially metastatic extracranial tumors and the diagnostic accuracy can be improved by increasing cellular yield using cytocentrifuge.

• 대한핵의학회지
• /
• 제38권2호
• /
• pp.161-170
• /
• 2004

분자영상은 살아있는 개체의 몸 속에서 일어나는 생물학적 반응이나 특정한 표적분자를 비관혈적이며 반복적으로 영상화하는 기술이다. 이를 위해서는 두 가지 기본 요소가 요구되는 바 하나는 관심 생물현상에 의해 농도나 분광특성이 변하는 분자영상용 추적자이며 다른 하나는 이런 추적자를 모니터링하는 장비이다. 분자 핵의학 영상기술은 이제 신경과학분야에서도 활발히 적용되고 있으며 신경관련 기초연구나 뇌질환 관련 신약개발에 이미 중요한 역할을 하고 있다. 최근에는 살아있는 개체에서 약제 투여가 뇌에 미치는 약물학적, 생리적 영향을 조사하는 데에도 이용되고 있다. 다가오는 미래에는 각종 뇌질환에서 특이적 표적을 공략하는 새로운 분자치료가 개발되어 뇌질환 치료에 혁명적인 변화를 가져올 것으로 예상되고 있다. 그 예로, 파킨슨씨 병과 같은 퇴행성 신경질환에 줄기세포를 이용한 자가수선, 신경보호, 약물분비 치료, 성장인자와의 병행치료 등이 개발되고, 유전자 치료도 이용될 것으로 보인다. 신경 분자 핵의학 영상은 이와 같은 새로운 뇌질환 치료기술의 개발에 있어서 뇌 안에서 일어나는 분자수준의 변화를 실시간으로 모니터링함으로써 관련연구에 크게 기여할 것으로 기대된다.

• Journal of Yeungnam Medical Science
• /
• 제31권1호
• /
• pp.43-47
• /
• 2014

Extramedullary plasmacytoma (EMP) is a rare disease that occurs in 3% to 5% of patients with plasma cell disorder. It occurs most commonly in the upper respiratory tract and the oral cavity. Very few EMP cases have been reported in the central nervous system (CNS). We report herein an unusual case of EMP in the nasal cavity that recurred in the CNS without systemic involvement. A 67-year-old man visited our hospital due to a month-long bout with exophthalmos. He was diagnosed with EMP in the nasal cavity, paranasal sinus, and orbital cavity. He received radiotherapy to which he had complete responses. After 2 years, he visited our hospital because of a month-long headache. He was diagnosed with EMP recurrence in the CNS via brain magnetic resonance imaging and cerebrospinal fluid analysis. He was treated with whole brain radiotherapy and intrathecal chemotherapy with methotrexate, but he expired due to pneumonia.

• Clinical and Experimental Pediatrics
• /
• 제46권10호
• /
• pp.1040-1043
• /
• 2003

저자들은 9세 남아에서 고혈압과 뇌혈관염이 동반된 상태에서 뇌증을 보인 HSP 신염 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• Radiation Oncology Journal
• /
• 제12권1호
• /
• pp.33-42
• /
• 1994

1982년부터 1991년까지 경희대학병원 치료방사선과에서 원발성 중추신경계 림프종으로 확진되어 방사선치료를 받은 16명의 환자를 대상으로 치료결과를 후향적으로 분석하였다. 가장 흔한 세포아형은 large, noncleaved cell과 B cell의 immunoblastic 림프종이었으며 측두엽과 심핵부위에 호발하였다. 치료는 환자를 생검 또는 절제술후 전뇌에 40 Gy(range=30-50 Gy)를 방사선 조사하였으며 원발병소에 15-20 Gy를 추가조사하였다. 16명의 환자중 14명은 방사선치료후 2개월에서 49개월 사이에 사망하였으며, 2명은 재발없이 각각 8개월과 22개월째 생존하고 있다. 1년 및 2년생존율은 각각 55.6$ \% $와 34.7$ \% $이었고, 중간 생존기간은 12개월이었다. 16명의 환자중 재발된 11명을 분석하였다. 방사선치료후 원발부위에 재발은 드물었으나 전뇌조사에서 불구하고 다른 부위에서 재발하였다. 재발율은 뇌에서 68.7$ \% $ (l1/16)이고 척추에서 25.0$ \% $(4/16)이었다. 나이, 성별 발생부위, 병소수, 방사선치료선량등은 각각 생존율과 무관하였다. 이와 같은 결과로 중추신경계 림프종은 방사선 치료의 초기반응은 양호하나 통상적인 방사선치료만으로는 조절이 어려운 질환이다. 따라서 분할치료방법에 의한 방사선량 증가와 항암제의 병용으로 중추신경계 림프종에 대한 치료효과를 향상시키리라 기대한다.

• Childhood Kidney Diseases
• /
• 제2권1호
• /
• pp.73-76
• /
• 1998

Behcet syndrome is a multisystem disease complex of unknown cause. It is usually manifested by aphthous oral and genital ulcers, uveitis and skin eruption. Less frequently, CNS involvement, colitis, large vessel vasculitis, and myocarditis occur. Recently, several studies have reported renal manifestations of amyloidosis and focal necrotizing glomerulonephritis in Behcet syndrome. We describe a patient with Behcet syndrome who experienced nephrotic syndrome with focal effacement of epithelial foot process in glomeruli. A brief review of literature ensues.

• Journal of Korean Neurosurgical Society
• /
• 제50권3호
• /
• pp.235-239
• /
• 2011

Radiation therapy has been widely applied for cancer treatment. Childhood acute lymphocytic leukemia (ALL), characterized by frequent central nervous system involvement, is a well documented disease for the effect of prophylactic cranio-spinal irradiation. Irradiation, however, acts as an oncogenic factor as a delayed effect and it is rare that glioblastoma multiforme develops during the remission period of ALL. We experienced a pediatric radiation-induced GBM patient which developed during the remission period of ALL, who were primarily treated with chemotherapeutic agents and brain radiation therapy for the prevention of central nervous system (CNS) relapse. Additionally, we reviewed the related literature regarding on the effects of brain irradiation in childhood and on the prognosis of radiation induced GBM.

• 한국임상수의학회지
• /
• 제31권3호
• /
• pp.226-232
• /
• 2014

8개월령의 단모종 집고양이가 감소된 식욕과 활력 저하로 내원하였다. 진단을 위한 영상 검사에서 종격동의 종괴와 종격동 림프절의 비대 소견을 확인할 수 있었다. 이어서 진행한 세침흡인술 검사로, 악성 림프구를 다수 확인할 수 있었으며, 이 고양이는 다발성 림프종 (병기 V-b)로 진단되었다. 치료는 COP 프로토콜을 사용하였으며, 완전 완화를 확인할 수 있었지만, 항암 치료를 시작한 후 314일 째 재발과 함께 중추신경계로 전이된 소견을 확인할 수 있었다. 구조화학 요법을 실시하여, 단기적으로는 임상증상의 큰 개선을 확인할 수 있었지만, 부분완화만이 관찰되었으며, 처음 내원 부터 약 383일 정도 생존하였다. 부검과 조직병리학적 검사를 통해, 다발성의 T 세포 림프종으로 확인하였으며, 뇌에서도 병변을 확인할 수 있었다.