• Journal of Korean Neurosurgical Society
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• 제43권1호
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• pp.51-53
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• 2008

The syndrome of the sinking skin flap was introduced to explain the phenomenon of neurological deterioration after decompressive craniectomy. A 37-year-old man was admitted with acute subdural hematoma and traumatic intraparenchymal hematoma. After decompressive craniectomy, the patient suffered from hydrocephalus for which a ventriculoperitoneal (V-P) shunt was inserted. Following this procedure, the depression of the skin flap became remarkable and his mentation was deteriorated. The patient recovered uneventfully after temporary elevating of valve pressure and cranioplasty. We present a patient who was successfully managed with elevation of valve pressure and cranioplasty for the syndrome of the sinking scalp flap with review of a pertinent literature.

• Journal of Korean Neurosurgical Society
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• 제40권1호
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• pp.51-53
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• 2006

Decompressive craniectomy is usually performed to relieve raised intracranial pressure[ICP] caused by various intracranial lesions. A 67-year-old man presented with acute subdural hematoma and traumatic intracerebral hematoma. The patient underwent a decompressive craniectomy. Four weeks later, the patient presented with acute neurological deterioration. Brain computed tomographic[CT] scans revealed the marked concavity of the brain at the site of the craniectomy and associated with midline shift which was reversed by cranioplasty. We report an unusual case of cerebral herniation from intracranial hypotension after decompressive craniectomy for a traumatic subdural hematoma. The cranioplasty may be helpful to prevent paradoxial cerebral herniation.

• 대한한의학회지
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• 제22권3호
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• pp.169-178
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• 2001

After initial recovery from acute carbon monoxide (CO) intoxication, some patients occasionally undergo severe neuropsychiatric deterioration, which is called postanoxic delayed encephalopathy (sequelae). This is the clinical report about one patient, a 73-year-old man, diagnosed with delayed encephalopathy after acute CO intoxication. The symptoms of the patient were mental dysfunction including memory impairment and disorientation, abnormal behavior, incontinence and mutism. He had completely recovered after an aonxic episode, but the neurological symptoms that developed were preceded by an interval of apparent normality (the 'lucid interval'). We characterized him as suffering deficiency syndrome of the heart and prescribed for him Bokreongbosim-tang and Guipi-tang, and thereafter his symptoms were remarkably improved. For the evaluation of clinical improvement, we use the Modified Barthel Index (MBI), Canadian Neurologic Scale (CNS), and the Korean version of the Mini-Mental State Examination (K-MMSE)

• 대한유전성대사질환학회지
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• 제14권2호
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• pp.182-185
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• 2014

GM1 gangliosidosis is a rare autosomal recessively inherited metabolic disease due to deficiency of ${\beta}$-galactosidase caused by mutations in the GLB1 gene. There have been three clinical subgroups in GM1 gangliosidosis, however it is difficult to differentiate because there is considerable overlap between classical phenotypes and clinical and imaging findings among the subgroups. Here, we report a Korean girl with type 2 GM1 gangliosidosis, who showed dysostosis multiplex and progressive neurological deterioration. Developmental regression was first noted at the age of 9 months, and she was diagnosed as GM1 gangliosidosis by ${\beta}$-galactosidase enzyme analysis and GLB1 mutation analysis at the age of 16 months.

• Journal of mucopolysaccharidosis and rare diseases
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• 제4권2호
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• pp.37-41
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• 2018

Mucopolysaccharidosis III (MPS III, Sanfilippo syndrome) is a rare autosomal recessive disease caused by a deficiency of one of four enzymes involved in the degradation of glycosaminoglycan (GAG). The resultant cellular accumulation of GAG causes various clinical manifestations. MPS III is divided into four subtypes depending on the deficient enzyme. All the subtypes show similar clinical features and are characterized by progressive degeneration of the central nervous system. A number of genetic and biochemical diagnostic methods have been developed. However, there is no effective therapy available for any form of MPS III, with treatment currently limited to clinical management of neurological symptoms. Main purpose of the treatment for MPS III is to prevent neurologic deterioration. Because conventional intravenous enzyme replacement therapy (ERT) has a limitation due to inability to cross the blood-brain barrier, several innovative therapeutic approaches for MPS III are being developed. This review covers the currently developing new therapeutic options for MPS III including high dose ERT, substrate reduction therapy, intrathecal or intraventricular ERT, fusion protein delivery using bioengineering technology, and gene therapy.

• Journal of Korean Neurosurgical Society
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• 제61권2호
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• pp.233-242
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• 2018

Objective : A spinal cord subependymoma is an uncommon, indolent, benign spinal cord tumor. It is radiologically similar to a spinal cord ependymoma, but surgical findings and outcomes differ. Gross total resection of the tumor is not always feasible. The present study was done to determine the clinical, radiological and pathological characteristics of spinal cord subependymomas. Methods : We retrospectively reviewed the medical records of ten spinal cord subependymoma patients (M : F=4 : 6; median 38 years; range, 21-77) from four institutions. Results : The most common symptoms were sensory changes and/or pain in eight patients, followed by motor weakness in six. The median duration of symptoms was 9.5 months. Preoperative radiological diagnosis was ependymoma in seven and astrocytoma in three. The tumors were located eccentrically in six and were not enhanced in six. Gross total resection of the tumor was achieved in five patients, whereas subtotal or partial resection was inevitable in the other five patients due to a poor dissection plane. Adjuvant radiotherapy was performed in two patients. Neurological deterioration occurred in two patients; transient weakness in one after subtotal resection and permanent weakness after gross total resection in the other. Recurrence or regrowth of the tumor was not observed during the median 31.5 months follow-up period (range, 8-89). Conclusion : Spinal cord subependymoma should be considered when the tumor is located eccentrically and is not dissected easily from the spinal cord. Considering the rather indolent nature of spinal cord subependymomas, subtotal removal without the risk of neurological deficit is another option.

• Clinical and Experimental Pediatrics
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• 제61권2호
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• pp.64-67
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• 2018

We report the case of a 12-year-old girl who had mild encephalopathy with a reversible splenial lesion (MERS) associated with acutepyelonephritis caused by Escherichia coli. The patient was admitted with a high fever, and she was diagnosed with acute pyelonephritis based on pyuria and the results of urine culture, which detected cefotaxime-sensitive E. coli. Although intravenous cefotaxime and tobramycin were administered, her fever persisted and her C-reactive protein level increased to 307 mg/L. On day 3 of admission, she demonstrated abnormal neuropsychiatric symptoms, such as delirium, ataxia, and word salad. Magnetic resonance imaging (MRI) of the brain performed on day 4 showed marked hyperintensities in the bilateral corpus callosum and deep white matter on diffusion-weighted images, with corresponding diffusion restriction on apparent diffusion coefficient mapping. No abnormalities or pathogens were detected in the cerebrospinal fluid; however, lipopolysaccharides (LPS, endotoxin) were detected in plasma (41.6 pg/mL), associated with acute neurological deterioration. Her clinical condition gradually improved, and no neurological abnormalities were observed on day 6. Follow-up brain MRI performed 2 weeks later showed near-disappearance of the previously noted hyperintense lesions. In this patient, we first proved endotoxemia in a setting of MERS. The release of LPS following antibiotic administration might be related to the development of MERS in this patient. The possibility of MERS should be considered in patients who present with acute pyelonephritis and demonstrate delirious behavior.

• Journal of Korean Neurosurgical Society
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• 제42권3호
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• pp.179-183
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• 2007

Objective : Posterior arthrodesis in atlantoaxial instability has been performed using various posterior C1-2 wiring techniques. Recently, transarticular screw fixation (TASF) technique was introduced to achieve significant immediate stability of the C1-2 joint complex. The purpose of this study is to assess the clinical outcomes associated with posterior C1-2 TASF for the patient of atlantoaxial instability. Methods : We retrospectively reviewed data obtained from 17 patients who underwent C1-2 TASF and supplemented Posterior wiring technique (PWT) with graft between 1994 and 2005. There were 8 men and 9 women with a mean age of 43.5 years (range, 12-65 years). An average follow-up was 26 months (range, 15-108 months). Results : Successful fusions were achieved in 16 of 17 (94%). The pain was improved markedly (3 patients) or resolved completely (14 patients). There was no case of neurological deterioration, hypoglossal nerve injury, or vertebral artery injury. Progression of spinal deformity, screw pullout or breakage, and neurological or vascular complications did not occur. Conclusion : The C1-2 TASF with supplemental wiring provided a high fusion rate. Our result demonstrates that C1-2 TASF supplemented by PWT is a safe and effective procedure for atlantoaxial instability. Preoperative evaluation and planning is mandatory for optimal safety.

• Clinical and Experimental Pediatrics
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• 제51권5호
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• pp.538-541
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• 2008

멘케스병은 성염색체 열성으로 유전되는 질환으로 APT7A 유전자의 돌연변이에 의해 발생한다. 기전은 장에서의 구리 흡수와 운반에 결손이 있는 것으로 혈청 구리 및 ceruloplasmin 이 낮다. 특징적인 임상양상은 경련발작, 근육긴장저하, 저체온증을 나타내며 얼굴은 특징적으로 통통하며 저색소 피부색, 꼬이고 윤택이 없고 잘 부스러지는 머리카락을 보인다. 성장장애를 보이는 경우가 흔하며 심한 정신지체와 발달장애를 동반한다. 멘케스병에서 간비대가 간병증을 보이는 경우는 현재까지 보고되지 않았다. 저자들은 유전자 검사를 통해 멘케스병으로 확진된 4개월 소아가 영아연축, 발달장애, 머리카락 이상 외에도 이전에 잘 알려져 있지 않은 간비대를 보인 1례를 보고하는 바이다.

• 한국임상수의학회지
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• 제27권4호
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• pp.450-452
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• 2010

4년령의 수컷 요크셔테리어가 두부의 둔상에 의한 구토와 무의식을 주증으로 내원하였다. 육안검사에서 안면 부종, 피하 출혈, 과유연을 확인하였다. 방사선 검사에서 후두골편이 뒤쪽으로 변위되어 있음이 확인되었다. 3차원으로 재구성한 컴퓨터단층촬영 영상에서 골편의 배쪽 부분이 불완전하게 부착되어 있음을 보여주었고, 골편의 불안정성 때문에 골편적출술을 실시하기로 결정하였다. 골편의 제거 후, 결손부는 널판근을 이용한 근육판으로 보강하였다. 환자 상태는 약간의 실조성 보행을 제외하고, 점차 개선되었다. 술 후 20개월째 추적조사에서 운동실조는 더 이상 관찰되지 않았다. 심한 두 개 내 출혈과 두개골 골절에도 불구하고, 수술적인 중재를 시작하기까지 환자의 신경학적인 상태는 심하게 악화되지는 않았다. 이는 바깥쪽으로 변위된 골편이 신경학적 악화를 야기할 수 있는 두개내압의 증가를 방지하는데 주요한 역할을 했기 때문이라고 사료된다.