• Korean Journal of Radiology
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• v.23 no.2
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• pp.290-290
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• 2022

• Korean Journal of Radiology
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• v.23 no.3
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• pp.381-382
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• 2022

• Clinical and Experimental Pediatrics
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• v.58 no.11
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• pp.407-414
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• 2015

Early-onset epileptic encephalopathies are one of the most severe early onset epilepsies that can lead to progressive psychomotor impairment. These syndromes result from identifiable primary causes, such as structural, neurodegenerative, metabolic, or genetic defects, and an increasing number of novel genetic causes continue to be uncovered. A typical diagnostic approach includes documentation of anamnesis, determination of seizure semiology, electroencephalography, and neuroimaging. If primary biochemical investigations exclude precipitating conditions, a trial with the administration of a vitaminic compound (pyridoxine, pyridoxal-5-phosphate, or folinic acid) can then be initiated regardless of presumptive seizure causes. Patients with unclear etiologies should be considered for a further workup, which should include an evaluation for inherited metabolic defects and genetic analyses. Targeted next-generation sequencing panels showed a high diagnostic yield in patients with epileptic encephalopathy. Mutations associated with the emergence of epileptic encephalopathies can be identified in a targeted fashion by sequencing the most likely candidate genes. Next-generation sequencing technologies offer hope to a large number of patients with cryptogenic encephalopathies and will eventually lead to new therapeutic strategies and more favorable long-term outcomes.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.3 no.1
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• pp.4-14
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• 2003

Maple syrup urine disease or branched chain ketoacidurias caused by a deficiency in activity of the branched-chain ${\alpha}$-keto acid dehydrogenase(BCKD) complex. This metabolic block results in the accumulation of the branched-chain amino acids(BCAAs) leucine, isoleucine and valine, and the corresponding branched chain ${\alpha}$-keto acids (BCKAs). Based on the clinical presentation and biochemical responses to thiamine administration, MSUD patients can be divided into five phenotypes : classic, intermediate, intermittent, thiamine responsive and dihydrolipoyl dehydrogenase(E3)-deficient. Classic MSUD has a neonatal onset of encephalopathy, and is the most severe ad most common form. Variant forms of MSUD generally have the initial symptoms by 2 years of age. The majority of untreated classic patients die within the early months of life from recurrent metabolic crisis and neurologic deterioration. Treatment involves both longterm dietary management and aggressive intervention during acute metabolic decompensation. We report here our experience of longterm diet therapy and treatment of acute metabolic decompensation of a case of classic MSUD.

• Journal of Genetic Medicine
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• v.18 no.2
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• pp.137-141
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• 2021

Genetic causes of developmental and epileptic encephalopathy (DEE) have been rapidly uncovered from mid-2010s. The mutations of gene enconding calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A) are recently detected in DEE, which gene is already known well in familial hemiplegic migrine type 1 or episodic ataxia type 2. Ketogenic diet therapy (KDT) is effective in some DEE, which data is short in CACNA1A encephalopathy. A 3-month-old male with global developmental delay and multidrug-resistant focal seizures was diagnosed as epilepsy of infancy with migrating focal seizures (EIMFS). Brain magnetic resonance imaging and metabolic screening were all normal. Whole exome sequencing revealed two variants of CACNA1A: c.899A>C, and c.2808del that is from his mother. His seizures disappeared within 3 days whenever on KDT, which recurred without it. To our knowledge, this rare case of EIMFS with novel mutations of CACNA1A, is the first report in CACNA1A encephalopathy becoming seizure-free on KDT.

• Clinical and Experimental Pediatrics
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• v.58 no.6
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• pp.230-233
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• 2015

Lethargy in newborns usually indicates central nervous system dysfunction, and many conditions such as cerebrovascular events, infections, and metabolic diseases should be considered in the differential diagnosis. Nonketotic hyperglycinemia is an autosomal recessive error of glycine metabolism, characterized by myoclonic jerks, hypotonia, hiccups, apnea, and progressive lethargy that may progress to encephalopathy or even death. Cerebral sinovenous thrombosis is a rare condition with various clinical presentations such as seizures, cerebral edema, lethargy, and encephalopathy. Here, we report the case of a newborn infant who presented with progressive lethargy. An initial diagnosis of cerebral venous sinus thrombosis was followed by confirmation of the presence of nonketotic hyperglycinemia.

• Journal of Genetic Medicine
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• v.18 no.1
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• pp.55-59
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• 2021

West syndrome (WS) presenting with infantile spasms, developmental delay, and hypsarrhythmia has genetic etiology in some patients. Movement disorders or visual impairment that share genetic underpinnings with infantile spasms can provide diagnostic clues for specific genetic mutations. Mutations of the GRIN1 gene encoding the glutamate receptor inotropic N-methyl-D-aspartate subunit can result in WS with hyperkinetic movements, cortical visual impairment, autistic features, and bilateral polymicrogyria. An 11-month-old boy with WS showed hyperkinetic movements and visual impairment. Brain magnetic resonance imaging and metabolic investigations revealed no abnormalities. Whole-exome sequencing revealed a novel likely pathogenic variant (c.1561_1563del; p.Asn521del) of GRIN1 (NM_007327.3). The proband was treated with vigabatrin and became seizure-free within one week. Notably, the cortical blindness improved within 3 months and the hyperkinetic movements resolved one year after the proband became seizure-free. To the best of our knowledge, this is the first report of GRIN1 encephalopathy in Koreans.

• Clinical and Experimental Pediatrics
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• v.46 no.10
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• pp.1040-1043
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• 2003

Henoch-Shonlein purpura(HSP) is a systemic small-vessel vasculitis that primarily affects the skin, gastrointestinal tract, joints, and kidneys. The nervous system may be involved, less commonly than other organs. When the central nervous system(CNS) was involved, headache, changes in mental status, seizures, and focal neurologic deficits have been reported. Hypertension, uremic encephalopathy, metabolic abnomalities, electrolyte abnormalities, or cerebral vasculitis were suggested as possible causes of the neurologic manifestation. Diagnosis of vasculitic involvement of CNS is difficult. Magnetic resonance imaging of the brain is the modality of choice for the evaluation of the CNS disease. Steroid or plasmapheresis are used in treatment of cerebral vasculitis. We experienced a case of 9-year-old boy who had presented with Henoch-Schonlein purpura nephritis complicating encephalopathy accompanied by hypertension and cerebral vasculitis. Brain MRI showed multiple small nodular-linear pattern enhancing lesions in whole cerebral hemispheres and focal increased T2 signal in the right basal ganglia. We used intravenous immunoglobulin in treatment of cerebral vasculitis. We report this case with a brief review of related literature.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.2
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• pp.102-108
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• 2016

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episode (MELAS) syndrome is one of mitochondrial encephalopathy. As the early clinical manifestations can be variable, it is important to suspect the disease, especially in patients with multiple organ dysfunctions. A boy was diagnosed with epilepsy when he was 9 years old. Two years later, severe headache and blurred vision developed suddenly. On examination, left homonymous hemianopsia was detected with corresponding cerebral parenchymal lesions in right temporo-occipito-parietal areas. MELAS syndrome was confirmed by genetic test, which showed m.3243 A>G mitochondrial DNA mutation. Multivitamins including coenzyme Q10 were added to anticonvulsant. He experienced 4 more events of stroke-like episodes over 5 years, but he is able to perform normal daily activities. A 13-year-old boy was brought to the hospital due to suddenly developed respiratory arrest and asystole associated with pneumonia. Past medical history revealed that he had multiple medical problems such as epilepsy, failure-to-thrive, optic atrophy, and deafness. He has been on valproic acid as an anticonvulsant which was prescribed from local clinic. He recovered after the resuscitation, but his cognition and motor function were severely damaged. He became bed-ridden. He was diagnosed with MELAS syndrome by brain MRI, muscle biopsy, and clinical features. Genetic test did not reveal any mitochondrial gene mutation. Four years later, he expired due to suddenly developed severe metabolic acidosis combined with hyperglycemic hyperosmolar nonketotic coma. The clinical features of MELAS syndrome are variable. Early diagnosis before the presentation to the grave clinical course may be important for the better clinical outcome.

• Journal of Yeungnam Medical Science
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• v.37 no.4
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• pp.329-331
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• 2020

Negative myoclonus (NM) is a shock-like jerky involuntary movement caused by a sudden, brief interruption of tonic muscle contraction. NM is observed in patients diagnosed with epilepsy, metabolic encephalopathy, and drug toxicity and in patients with brain lesions. A 55-year-old man presented with NM in both his arms and neck. He has taken medications containing tramadol at a dose of 80-140 mg/day for 5 days due to common cold. He had no history of seizures. Acute lesions were not observed during magnetic resonance imaging, and abnormal findings in his laboratory tests were not noted. His NM resolved completely after the discontinuation of tramadol and the oral administration of clonazepam. Our case report suggests that tramadol can cause NM in patients without seizure history or metabolic disorders, even within its therapeutic dose.