• Investigative Magnetic Resonance Imaging
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• v.21 no.1
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• pp.61-64
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• 2017

A characteristic imaging finding in cases of methanol intoxication is putaminal necrosis, but its presence is usually not suspected due to its rarity. Methanol intoxication generally produces serious neurological symptoms that include visual disturbances and diminished consciousness, characteristically with metabolic acidosis. We reported the case of a 59-year-old man who was admitted to the hospital with diminished consciousness. Acute methanol intoxication was determined as the cause. Laboratory tests revealed high anion gap metabolic acidosis. Diffusion-weighted MRI indicated diffuse symmetric diffusion restriction lesions in the subcortical white matter of both cerebral hemispheres.

• 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.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.11 no.sup2
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• pp.50-58
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• 2008

Acute liver failure is a devastating disease in children. Most cases of acute liver failure in children are indeterminate; however, metabolic liver disease is one of the main causes in the pediatric age group. Though a major symptom of acute liver failure is hepatic encephalopathy, this is very difficult to diagnose, particularly in younger children. Liver transplantation has improved the chances of survival dramatically; however, it is not known which patients are ideal candidates for liver transplantation. Because patients may deteriorate rapidly, arranging care in a center with expertise will secure the best possible outcomes.

• Annals of Clinical Neurophysiology
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• v.9 no.2
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• pp.63-68
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• 2007

The EEG plays an important diagnostic role in epilepsy and provides supporting evidence of a seizure disorder as well as assisting with classification of seizures and epilepsy syndromes. There are a variety of electroclinical syndromes that are really defined by the EEG such as Lennox-Gastaut syndrome, benign rolandic epilepsy, childhood absence epilepsy, juvenile myoclonic epilepsy and also for localization purposes, it is vitally important especially for temporal lobe epilepsy. The sensitivity of first routine EEG in diagnosis of epilepsy has been known about 20-50%, but this proportion rises to 80-90% if sleep EEG and repetitive recording should be added. Convincing evidences suggest that the EEG may also provide useful prognostic information regarding seizure recurrence after a single unprovoked attack and following antiepileptic drug (AED) withdrawal. Moreover, patterns in the EEG make it possible to disclose an ictal feature of nonconvulsive status epilepticus, separate epileptic from other non-epileptic episodes and clarify the clues predictive of the cause of the encephalopathy (i.e., triphasic waves in metabolic encephalopathy). Therefore, regardless of its low sensitivity and other pitfalls, EEG should be considered not only in the situation of new onset episode such as a newly developed, unprovoked seizure or a condition manifesting decreased mentality from obscure origin, but also as a barometer of the long-term outcome following AED withdrawal.

• Journal of Yeungnam Medical Science
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• v.40 no.2
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• pp.136-145
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• 2023

Hepatic encephalopathy (HE) is a severe neuropsychiatric abnormality in patients with either acute or chronic liver failure. Typical brain magnetic resonance imaging findings of HE are bilateral basal ganglia high signal intensities due to manganese deposition in chronic liver disease and hyperintensity in T2, fluid-attenuated inversion recovery, or diffusion-weighted imaging (DWI) with hemispheric white matter changes including the corticospinal tract. Low values on apparent diffusion coefficient mapping of the affected area on DWI, indicating cytotoxic edema, can be observed in acute HE. However, neuropsychological impairment in HE ranges from mild deficits in psychomotor abilities affecting quality of life to stupor or coma with higher grades of hepatic dysfunction. In particular, the long-lasting compensatory mechanisms for the altered metabolism in chronic liver disease make HE imaging results variable. Therefore, the clinical relevance of imaging findings is uncertain and differentiating HE from other metabolic diseases can be difficult. The recent introduction of concepts such as "acute-on-chronic liver failure (ACLF)," a new clinical entity, has led to a change in the clinical view of HE. Accordingly, there is a need to establish a corresponding concept in the field of neuroimaging diagnosis. Herein, we review HE from a historical and etiological perspective to increase understanding of brain imaging and help establish an imaging approach for advanced new concepts such as ACLF. The purpose of this manuscript is to provide an understanding of HE by reviewing neuroimaging findings based on pathological and clinical concepts of HE, thereby assisting in neuroimaging interpretation.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.1
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• pp.34-41
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• 2016

Adult-onset type II citrullinemia (CTLN2) is characterized by episodes of neurologic symptoms associated with hyperammonemia leading to disorientation, irritability, seizures, and coma. CTLN2 is distinct from classical citrullinemia, which is caused by a mutation of the argininosuccinic acid synthetase (ASS) gene. The serum citrulline level is elevated, while the activity of ASS in liver tissue is decreased. CTLN2 is known to have a poor prognosis if the proper treatment is not taken. We reported a female aged 37 years who developed recurrent attacks of altered consciousness, aberrant behavior, and vomiting. We initially suspected the patient had CTLN2 because of the signs of hyperammonemic encephalopathy, such as altered mentality, memory disturbance, and aberrant behaviors provoked by exercise-induced stress and excessive intravenous amino acid administration. Through her peculiar diet preferences and laboratory findings that included hyperammonemia and citrullinemia, we diagnosed the patient as CTLN2, and SLC25A13 sequencing revealed known compound heterozygous mutations (IVS11+1G>A, c.674C> A). Her parents were heterozygous carriers, and we identified that her older sister had the same mutations. The older sister had not experienced any episodes of hyperammonemia, but she had peculiar diet preferences. The patient and her sister have been well with conservative management. When considering the clinical course of CTLN2, it was meaningful that the older sister could be diagnosed early in an asymptomatic period and that preemptive treatment was employed. Through this case, CTLN2 should be considered in adults who present symptoms of hyperammonemic encephalopathy without a definite etiology. Because of its rare incidence and similar clinical features, CTLN2 is frequently misdiagnosed as hepatic encephalopathy, and it shows a poor prognosis due to the lack of early diagnosis and proper treatment. A high-carbohydrate diet, which is usually used to treat other urea cycle defects, can also exaggerate the clinical course of CTLN2, so proper metabolic screening tests and genetic studies should be performed.

• Clinical and Experimental Pediatrics
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• v.46 no.3
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• pp.295-301
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• 2003

Glutaric aciduria type 1(GA1) is an autosomal recessive disorder of the lysine, hydroxylysine and tryptophan metabolism caused by the deficiency of mitochondrial glutaryl-CoA dehydrogenase. This disease is characterized by macrocephaly at birth or shortly after birth and various neurologic symptoms. Between the first weeks and the 4-5th year of life, intercurrent illness such as viral infections, gastroenteritis, or even routine immunizations can trigger acute encephalopathy, causing injury to caudate nucleus and putamen. But intellectual functions are well preserved until late in the disease course. We report a one-month-old male infant with macrocephaly and hypotonia. In brain MRI, there was frontotemporal atrophy(widening of sylvian cistern). In metabolic investigation, there were high glutarylcarnitine level in tandem mass spectrometry and high glutarate in urine organic acid analysis, GA1 was confirmed by absent glutaryl-CoA dehydrogenase activity in fibroblast culture. He was managed with lysine free milk and carnitine and riboflavin. He developed well without a metabolic crisis. If there is macrocephaly in an infant with neuroradiologic sign of frontotemporal atrophy, GA1 should have a high priority in the differential diagnosis. Because current therapy can prevent brain degeneration in more than 90% of affected infants who are treated prospectively, recognition of this disorder before the brain has been injured is essential for treatment.

• Journal of the Korean Society of Radiology
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• v.85 no.2
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• pp.381-393
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• 2024

Purpose Metabolic abnormalities in hepatic encephalopathy (HE) cause brain edema or demyelinating disease, resulting in symmetric regional cerebral edema (SRCE) on MRI. This study aimed to investigate the usefulness of the clustering analysis of SRCE in predicting the development of brain failure. Materials and Methods MR findings and clinical data of 98 consecutive patients with HE were retrospectively analyzed. The correlation between the 12 regions of SRCE was calculated using the phi (φ) coefficient, and the pattern was classified using hierarchical clustering using the φ² distance measure and Ward's method. The classified patterns of SRCE were correlated with clinical parameters such as the model for end-stage liver disease (MELD) score and HE grade. Results Significant associations were found between 22 pairs of regions of interest, including the red nucleus and corpus callosum (φ = 0.81, p < 0.001), crus cerebri and red nucleus (φ = 0.72, p < 0.001), and red nucleus and dentate nucleus (φ = 0.66, p < 0.001). After hierarchical clustering, 24 cases were classified into Group I, 35 into Group II, and 39 into Group III. Group III had a higher MELD score (p = 0.04) and HE grade (p = 0.002) than Group I. Conclusion Our study demonstrates that the SRCE patterns can be useful in predicting hepatic preservation and the occurrence of cerebral failure in HE.

• Journal of Neurocritical Care
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• v.7 no.2
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• pp.104-110
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• 2014

Background: Cefepime is a fourth-generation cephalosporin widely used for empiric treatment of severe infections. Neurotoxicity by cefepime have been reported due to γ-aminobutyric acid A receptor inhibition or other mechanisms. The aim of this study was to evaluate the risk factors for cefepime-induced neurotoxicity between group showing cefepime-induced neurotoxicity and group without neurotoxicity. Methods: From Jan 2005 to June 2010, a total of 2,461 patients (older than 20) who used cefepime were considered in this study. We compared patients who developed cefepime-induced neurotoxicity (patient group, n=21) to patients who had no cefepime-induced neurotoxicity (control group, n=31). We analyzed demographic, underlying diseases, and metabolic parameters before cefepime treatment and during cefepime treatment between the two groups. Statistical analysis was performed using SPSS 18 software. Results: Of the total 2461 patients, 21 (0.85%) were diagnosed with cefepime-induced neurotoxicity. Impaired glomerular filtration rate (GFR at 15-30 ml/min) before cefepime use were significantly (P<0.05) higher risk for developing cefepime-induced neurotoxicity in patient group compared to that in the control group. Age, sex, and other metabolic parameters except GFR before and during, usage of cefepime did not show any statistical difference between the two groups. Conclusion: The present study revealed that cefepime-induced neurotoxicity was prone to develop in patients with impaired renal function before cefepime usage.

• Neonatal Medicine
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• v.16 no.1
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• pp.10-17
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• 2009

The immature neonatal brain is susceptible to the development of seizures. Seizures occur in 1% to 5% of infants during the neonatal period. Neonatal seizures are most commonly associated with serious acute illnesses, such as hypoxic-ischemic encephalopathy, birth trauma, metabolic disturbances, or infections. Thus, newborn infants with seizures are at risk for neonatal death and survivors are at risk for neurologic impairment, developmental delay, and subsequent epilepsy. Experimental data have also raised concerns about the potential adverse effects of the currently used anticonvulsants in neonates on brain development. Therefore, in the management of neonatal seizures, confirmatory diagnosis and optimal, but shorter, duration of anticonvulsant therapy is essential. Nevertheless, there has been substantial progress in understanding the developmental mechanisms that influence seizure generation and responsiveness to anticonvulsants. The currently used therapies have limited efficacy and the treatment of neonatal seizures has not significantly changed in the past several decades, This review includes an overview of current approaches to the treatment of neonatal seizures.