• Journal of the Korean neurological association
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• v.36 no.4
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• pp.402-404
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• 2018

• Journal of the Korean neurological association
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• v.36 no.4
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• pp.413-414
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• 2018

• Clinical and Experimental Pediatrics
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• v.59 no.10
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• pp.395-401
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• 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.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.22 no.1
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• pp.15-20
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• 2022

The most common urea cycle disorder is ornithine transcarbamylase deficiency. More than 80 percent of patients with symptomatic ornithine transcarbamylase deficiency are late-onset, which can present various phenotypes from infancy to adulthood. With no regards to the severity of the disease, characteristic fluctuating courses due to hyperammonemia may develop unexpectedly, and can be precipitated by various metabolic stressors. Late-onset ornithine transcarbamylase deficiency is not merely related to a type of genetic variation, but also to the complex relationship between genetic and environmental factors that result in hyperammonemia; therefore, it is difficult to predict the prevalence of neurological symptoms in late-onset ornithine transcarbamylase deficiency. Most common acute neurological manifestations include psychological changes, seizures, cerebral edema, and death; subacute neurological manifestations include developmental delays, learning disabilities, intellectual disabilities, attention-deficit/hyperactivity disorder, executive function deficits, and emotional and behavioral problems. This review aims to increase awareness of late-onset ornithine transcarbamylase deficiency, allowing for an efficient use of biochemical and genetic tests available for diagnosis, ultimately leading to earlier treatment of patients.

• Journal of Genetic Medicine
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• v.20 no.1
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• pp.15-24
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• 2023

Monogenic disorders are traditionally attributed to the presence of mutations in a single gene. However, recent advancements in genomics have revealed instances where the phenotypic expression of apparently monogenic disorders cannot be fully explained by mutations in a single gene alone. This review article aims to explore the emerging concept of digenic or oligogenic inheritance in seemingly monogenic disorders. We discuss the underlying mechanisms, clinical implications, and the challenges associated with deciphering the contribution of multiple genes in the development and manifestation of such disorders. We present relevant studies and highlight the importance of adopting a broader genetic approach in understanding the complex genetic architecture of these conditions.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.24 no.2
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• pp.197-206
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• 2021

Purpose: Celiac disease (CD) is a common autoimmune disease with extra-intestinal manifestations, including neurological disorders. There are few reports to assess various factors in increasing the chances of developing neurological disorders in CD, so we designed this study. Methods: All patients with CD at any age who had been referred to the Celiac Clinic were evaluated for neurological problems. CD was defined as IgA anti-transglutaminase antibodies (anti-tTG) of 18 IU/mL or higher in serology and Marsh type I or more severe in histopathological evaluation. Logistic regression analysis was used to evaluate the impact of various independent variables on the neurological manifestations. Results: A total of 540 patients enrolled in this study. A 360 (66.7%) of patients were children. A 64.8% and 35.2% were female and male, respectively. Overall, 34.1% of patients had neurological manifestation, including headache, neuropathy, epilepsy, and ataxia. The odds of developing neurological manifestations in children were significantly lower than in adults (odds ratio [OR], 0.66; 95% confidence interval [CI], 0.45-0.96; p=0.03) and in patients with gastrointestinal (GI) symptoms significantly higher than in the group without GI manifestations (OR, 1.77; 95% CI, 1.18-2.63; p=0.005). Other variables, including Marsh classification (OR, 0.44; 95% CI, 0.18-1.11; p=0.08) and anti-tTG levels (OR, 1.00; 95% CI, 0.999-1.001; p=0.59) did not significantly increase the chances of developing neurological disorders. Conclusion: Our study showed that increasing age and the presence of GI symptoms, but not serological and histological findings, could increase the chances of developing neurological diseases in CD patients.

• Journal of Cerebrovascular and Endovascular Neurosurgery
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• v.26 no.2
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• pp.196-203
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• 2024

Isolated middle cerebral artery dissection (MCAD) is rare but increasingly recognized as a significant clinical entity, particularly in younger adults. Ischemic stroke is the most common manifestation in symptomatic cases but symptoms can vary in severity from headaches to severe neurologic deficits. Due to its rarity and unpredictable clinical course, there is no established treatment strategy for isolated MCAD. Through two case reports, we reviewed the post-operative clinical course of MCAD under different treatment modalities. Case 1 was a 21-year-old woman who presented to the emergency department with headaches and left-side hemiparesis. Isolated MCAD was diagnosed and she was successfully treated with the placement of a self-expandable stent and subsequent chemical angioplasty for post-stent vasospasm. Case 2 was a 35-year-old woman who presented to the emergency department with left-side hemiparesis and dysarthria. Isolated MCAD was diagnosed and she was successfully treated with superficial temporal artery (STA) to middle cerebral artery (MCA) anastomosis.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.20 no.4
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• pp.259-262
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• 2017

Mitochondria play essential role in eukaryotic cells including in the oxidative phosphorylation and generation of adenosine triphosphate via the electron-transport chain. Therefore, defects in mitochondrial DNA (mtDNA) can result in mitochondrial dysfunction which leads to various mitochondrial disorders that may present with various neurologic and non-neurologic manifestations. Mutations in the nuclear gene polymerase gamma (POLG) are associated with mtDNA depletions, and Alpers-Huttenlocher syndrome is one of the most severe manifestations of POLG mutation characterized by the clinical triad of intractable seizures, psychomotor regression, and liver failure. The hepatic manifestation usually occurs late in the disease's course, but in some references, hepatitis was reportedly the first manifestation. Liver transplantation was considered contraindicated in Alpers-Huttenlocher syndrome due to its poor prognosis. We acknowledged a patient with the first manifestation of the disease being hepatic failure who eventually underwent liver transplantation, and whose neurological outcome improved after cocktail therapy.

• Annals of Clinical Neurophysiology
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• v.21 no.2
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• pp.108-112
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• 2019

Non-Hodgkin's lymphoma (NHL) may initially present with atypical neurological manifestations, including paraneoplastic neurological syndromes. Herein, we report the case showing an initial manifestation of systemic NHL with paraneoplastic demyelination in the brain that initially mimicked the symptoms of stroke, seizure, and brain tumor. A high index of suspicion and timely diagnostic workup is required to prevent diagnostic delay and commence proper management of the condition. In this situation, a whole-body FDG PET/CT could be useful to screen for occult malignancy.

• Journal of the Korean neurological association
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• v.36 no.4
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• pp.322-324
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• 2018

Oculogyric crisis is an acute dystonia involving ocular muscles characterized by sustained conjugate upward or lateral deviation of the eyes. Metronidazole is a commonly used antimicrobial agent in treatment of anaerobic infections. However, its long-term use can cause toxic encephalopathy particularly in patients with hepatic dysfunction. Here, we describe a case of oculogyric crisis as a presenting manifestation of metronidazole-induced encephalopathy.