• 대한영상의학회지
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• 제81권6호
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• pp.1478-1485
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• 2020

리 증후군 또는 아급성 괴사성 뇌병증은 드물며, 빠르게 진행하는 신경 퇴행성 장애이다. 일반적으로 생후 1년 이내 호흡곤란, 심장기능 저하 등과 같은 증상이 발생하여, 2~3년 동안 환자의 75%가 사망에 이르는 심각한 질환이다. 리 증후군의 원인은 DNA mutation으로, 약 75%의 환자에서 핵 데옥시리보핵산의 돌연변이가 나타나고, 25%의 환자에서 미토콘드리아 데옥시리보핵산의 돌연변이가 발견된다. 임상 증상은 영향을 받은 뇌 영역에 따라 달라지며, 신경영상은 리 증후군 환자의 진단에 있어 중요한 역할을 한다. 성인에서 발생한 리 증후군은 더욱 드물고 어린 나이에 발생한 경우보다 더 느리게 진행한다. 우리는 성인에서 발생한 베르니케 뇌병증으로 오인된 리 증후군 환자의 증례를 보고하고자 한다.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제22권5호
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• pp.493-499
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• 2019

Thiamine (vitamin $B_1$) is a water-soluble vitamin that is not endogenously synthesized in humans. It is absorbed by the small intestine, where it is activated. Its active form acts as a coenzyme in many energy pathways. We report a rare case of thiamine deficiency in a 3.5-year old boy with short bowel syndrome secondary to extensive bowel resection due to necrotizing enterocolitis during his neonatal age. The patient was parenteral nutrition-dependent since birth and had suffered from recurrent central catheter-related bloodstream infections. He developed confusion with disorientation and unsteady gait as well as profound strabismus due to bilateral paresis of the abductor muscle. Based on these and a very low thiamine level he was diagnosed and treated for Wernicke encephalopathy due to incomplete thiamine acquisition despite adequate administration. He fully recovered after thiamine administration. After 1999 eight more cases have been reported in the PubMed mostly of iatrogenic origin.

• 대한임상독성학회지
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• 제11권1호
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• pp.28-30
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• 2013

A 66-year-old male with chronic alcoholism presented with tremor, gait disturbance, memory impairment, insomnia, decreased appetite, and confusion. The patient had been taking lithium daily for treatment of bipolar disorder. Brain CT showed no specific abnormality, and serum lithium and ammonia levels were 3.63 mEq/L (therapeutic range, 0.6~1.2 mEq/L) and $85{\mu}g/dL$ (reference range: $19{\sim}54{\mu}g/dL$), respectively. Therefore, the initial differential diagnosis included chronic lithium intoxication, hepatic encephalopathy, Wernicke encephalopathy, or alcohol withdrawal syndrome. Even with the provision of adequate hydration, the patient's neurologic status did not show improvement, so that lactulose enema, thiamine replacement, and continuous venovenous hemodiafiltration (CVVHDF) were started on the third admission day. By the fifth admission day he had made a rapid neurologic recovery, and was discharged on the 20th admission day. Therefore, CVVHDF might be a treatment for patients with chronic lithium intoxication, because, even if serum lithium concentration is normal, lithium concentration in the brain may be different from that of the serum.

• Molecules and Cells
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• 제25권1호
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• pp.7-19
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• 2008

Complexins play a critical role in the control of fast synchronous neurotransmitter release. They operate by binding to trimeric SNARE complexes consisting of the vesicle protein Synaptobrevin and the plasma membrane proteins Syntaxin and SNAP-25, which are key executors of membrane fusion reactions. SNARE complex binding by Complexins is thought to stabilize and clamp the SNARE complex in a highly fusogenic state, thereby providing a pool of readily releasable synaptic vesicles that can be released quickly and synchronously in response to an action potential and the concomitant increase in intra-synaptic $Ca^{2+}$ levels. Genetic elimination of Complexins from mammalian neurons causes a strong reduction in evoked neurotransmitter release, and altered Complexin expression levels with consequent deficits in synaptic transmission were suggested to contribute to the etiology or pathogenesis of schizophrenia, Huntington's disease, depression, bipolar disorder, Parkinson's disease, Alzheimer's disease, traumatic brain injury, Wernicke's encephalopathy, and fetal alcohol syndrome. In the present review I provide a summary of available data on the role of altered Complexin expression in brain diseases. On aggregate, the available information indicates that altered Complexin expression levels are unlikely to have a causal role in the etiology of the disorders that they have been implicated in, but that they may contribute to the corresponding symptoms.