• Journal of Haehwa Medicine
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• v.10 no.1
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• pp.471-482
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• 2001

Infantile Convulsion, one of common emergency symptoms in pediatrics, arises from sudden derangement of the central nerve system, and can cause a sudden loss of consciousness and spasm. It falls into three categories: Acute Infantile Convulsion, Chronic Infantile Convulsion and Chronic Spleen Convulsion. According to research, approximately 6~7% of all babies undergo spasm more than once. Since the treatment must be done immediately, acupuncture & moxibustion treatment can be one of the most important treatments in this Particular case. Therefore, the focus of this study is on how acupuncture & moxibustion can be utilized in the treatment of Infantile Convulsion, and the literary findings are as follows: 1. The meridian points used on acute infantile convulsion are Sugu(GV26), T'aech'ung(Liv3), Hapkok(LI4). 2. The meridians used on acute infantile convulsion are Governor Vessel(GV), Bladder Meridian(BL), Stomach Meridian(ST). 3. The meridian points used on accompanied symptoms with acute infantile convulsion are Haenggan(Liv2), Yangnungch'on(Liv3) on spasm, Paek'oe(GV14) on opisthotonus, Kokchi(LI11), Taech'u(GV14) on fever, Nogung(P8), Yongch'on(K1) on fainting spell, Chok-samri(S36) on body weakness. 4. The meridian points used on chronic infantile convulsion are Shinguol(CV8), Ch'onchj'u(S25), T'aech'ung(Liv3), Kwanwon(CV4), Ch'ukt'aek(L5). 5. The meridians used on chronic infantile convulsion are Conception Vessel(CV), Governor Vessel(GV), Stomach Meridian(ST). 6. The meridian points used on accompanied symptoms with chronic infantile convulsion are Ch'onchj'u(S25), Kolli(CV11) on diarrhea, Taenung(P7), Shinmun(H7) on fainting spell, Kansu(B18), T'aech'ung(Liv3) on spasm. 7. The meridian Points and meridians are Paek'oe(GV14), Sangsung(GV23), Sugu(GV26) of Governor Vessel(GV) and Choiyung(CV16), Shinguol(CV16) of Conception Vessel(CV) and Taedon(Liv1), Changmun(Liv13).

• Clinical and Experimental Pediatrics
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• v.46 no.11
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• pp.1131-1134
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• 2003

The ketogenic diet is a high-fat, low-protein, low-carbohydrate diet developed in the 1920s for the treatment of difficult-to-control seizures. Despite advances in both the pharmacotherapy and the surgery of epilepsy, many children continue to have difficult-to-control seizures. In this situation, a ketogenic diet should be considered as an alternative therapy. However, less attention has been paid to associated adverse events in the ketogenic diet. We report a case of infantile spasm associated with acute renal failure, lipoid pneumonitis and kwashiorkor after ketogenic diet. A better understanding of this adverse event profile will allow the pediatric neurologist to have a true informed consent discussion with the care giver when considering initiation of the ketogenic diet.

• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.29-31
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• 2016

Glucose transport 1 (GLUT-1) deficiency is a rare syndrome caused by mutations in the glucose transporter 1 gene (SLC2A1) and is characterized by early-onset intractable epilepsy, delayed development, and movement disorder. De novo mutations and several hot spots in N34, G91, R126, R153, and R333 of exons 2, 3, 4, and 8 of SLC2A1 are associated with this condition. Seizures, one of the main clinical features of GLUT-1 deficiency, usually develop during infancy. Most patients experience brief and subtle myoclonic jerk and focal seizures that evolve into a mixture of different types of seizures, such as generalized tonic-clonic, absence, myoclonic, and complex partial seizures. Here, we describe the case of a patient with GLUT-1 deficiency who developed infantile spasms and showed delayed development at 6 months of age. She had intractable epilepsy despite receiving aggressive antiepileptic drug therapy, and underwent a metabolic workup. Cerebrospinal fluid (CSF) examination showed CSF-glucose-to-blood-glucose ratio of 0.38, with a normal lactate level. Bidirectional sequencing of SLC2A1 identified a missense mutation (c.1198C>T) at codon 400 (p.Arg400Cys) of exon 9.

• Clinical and Experimental Pediatrics
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• v.46 no.1
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• pp.95-99
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• 2003

Krabbe disease is a rare autosomal recessive disorder clinically characterized by retardation in motor development, prominent spasticity, seizures, and optic atrophy. Pathologically, there are many globoid cells in the white matter, in addition to the lack of myelin and the presence of severe gliosis. Hence Krabbe disease is known as globoid cell leukodystrophy. Biochemically, the primary enzymatic deficiency in Krabbe disease is galactocerebroside beta-galactosidase. Patients with Krabbe disease can be subdivided into the early-onset type and late-onset type, according to the onset of clinical manifestations. Most patients with early-onset type die before their second birthday. We describe a girl with Krabbe disease associated with uncontrolled seizures, which was confirmed with biochemical study and MRI. The clinical findings of this patient included hyperirritability, scissoring of the legs, flexion of arm, and clenching of the fists, and generalized tonic seizures. EEG showed hypsarrhythmia, and MRI demonstrated degenerative white matter changes in bilateral periventricular white matter, posterior rim of internal capsule, basal ganglia and brain stem on T2W1 and FLAIR image. The diagnosis was based on clinical features of progressive neurologic deterioration in conjunction with low galactocerebroside beta-galactosidase activity.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.2
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• pp.62-67
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• 2018

Hunter syndrome, also known as mucopolysaccharidosis Type II (MPS II), is one of the lysosomal storage diseases caused by a lack of the enzyme iduronate 2-sulfatase (I2S). Lack of the I2S enzyme activity leads to accumulation of the glycosaminoglycans (GAG), causing dysfunction of multiple organs and systems. MPS II is an X-linked recessive disease due to mutation of IDS gene located on long arm of the X chromosome (Xq28). To date, more than 350 mutations of IDS gene have been identified in Hunter syndrome. Phenotypes of MPS II are classified as either severe or attenuated depending on the degree of cognitive impairment. Because the phenotype of MPS II is related to the type of mutation, identifying mutations is useful in predicting prognosis. We recently had a case of MPS II diagnosed by exome sequencing in a 7 month old boy with infantile spasm uncontrolled by AED. He was diagnosed with hearing loss at 2 months of age, and he took vigabatrin and prednisolone to control infantile spasms diagnosed at 3 months of age. At 6 months of age, whole exome sequencing was performed to evaluate the infantile spasm and hearing loss in this patient, and the mutation c.851C>T (p.Pro284Leu) inherited from hemizygous mother was revealed. The results of urine Cetylpyridinium Chloride (CPC) precipitation test, which were negative until 8 months of age, were positive from 9 months of age. We report a case of MPS II diagnosed by exome sequencing and treated through enzyme replacement therapy from 9 months after birth.

• Clinical and Experimental Pediatrics
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• v.51 no.5
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• pp.538-541
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• 2008

Menkes disease is an X-linked recessive copper transport disorder characterized by neurological deterioration, connective-tissue damage, and abnormal hair growth. It is caused by the mutation of the ATP7A gene. This report describes a four-month-old boy with neurological symptoms typical of Menkes disease plus unusual liver involvement. He developed seizures at three months of age and exhibited hypotonia, cephalhematoma, a sagging face, redundant and hypopigmented skin, and abnormal hair growth. In addition, he had unexplained hepatomegaly and high hepatic transaminase. We confirmed the diagnosis of Menkes disease by mutation analysis of the ATP7A gene. To exclude other possible causes for the hepatic abnormalities, a liver biopsy was performed, revealing intracytoplasmic cholestasis, focal spotty necrosis, and minimal lobular activity. The patient's liver involvement may be an underestimated complication of Menkes disease.

• Clinical and Experimental Pediatrics
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• v.45 no.12
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• pp.1546-1550
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• 2002

Purpose : The authors carried out this study to determine the relationship between vigabatrin (VGB) and visual field defect.. Methods : Seventy eight patients older than 8 years who had epilepsy which had developed and been diagnosed, and were receiving add-on therapy, were the subjects of this study. If suspicious results were obtained from the initial test with the Humphrey automatic perimeter, the patient was tested again with the Goldman perimeter. Follow-up examinations were performed on these patients after 6 months. Results : In this study, five of the 78 patients had suspicious primary test results, but upon the second examination they were all found to be normal. Thus there were no patients with visual field defects. Conclusion : VGB is a drug which may cause visual field defects, but in this study no patients presented with this symptom. Instead of limiting the use of VGB due to the adverse effect of visual field defect in the initial treatment of partial seizure and infantile spasm untreatable with other medication, if used with care it may not cause serious problems. Screening for visual defect is recommended, and in patients taking VGB regular examination is necessary.

• The Journal of Pediatrics of Korean Medicine
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• v.35 no.4
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• pp.112-124
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• 2021

Objectives The aim of this study is to examine the effects of Pediatric Tuina Massage (PTM) as a treatment of Chlidren's Epilepsy (CE) and to seek guidance for future follow-up studies and the use of Pediatric Tuina Massage (PTM) in clinical setting. Methods The articles were obtained from the China National Knowledge Infrastructure (CNKI) from 2000 to 2021 by key words 'epilepsy', '癲癎', '癲癎病', 'infantile spasm', '婴幼儿痉挛', '小儿发作', '婴幼儿痉挛' and '推拿', '按摩', 'Tuina', 'Chuna', 'massage' in cross combination way. Results Seven articles were selected and analyzed by authors, years published, characteristics, diagnostic criteria, treatment methods and contents, treatment periods, evaluation criteria and research results. Also, stability and side effects were reviewed, and the qualities of the randomized controlled trials (RCT) were evaluated according to Risks of Bias 2 (RoB 2). All studies using Pediatric Tuina Massage (PTM) treatment have achieved effective therapeutic results for treating Children's epilepsy (CE). Conclusion Pediatric Tuina Massage (PTM) is economical, safe without side effects and non-invasive, but still produce a good effect. Also, it is a good treatment option for children who feels anxious of ordinary Korean Medical treatment such as acupuncture, moxa, herbal medicine, which also results in good compliance with the treatment. In addition, it is possible to enhance therapeutic effect by combining it with pharmacological therapies in treating children's epilepsy (CE). Therefore, Pediatric Tuina Massage (PTM) provides an essential clinical basis in guiding further studies for the treatment of CE.

• Clinical and Experimental Pediatrics
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• v.53 no.1
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• pp.80-84
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• 2010

Purpose : The aims of this study were to investigate the long-term outcomes in children with infantile spasms (IS) and to identify the prognostic factors influencing their neurodevelopment. Methods : We retrospectively evaluated seventy two children over five years old who were treated for IS at Asan Medical Center, Seoul, Korea, between 1994 and 2007. Forty-three children were contacted by telephone or medical follow-up to assess their current neurodevelopmental status. Multiple logistic regression was used to calculate odds ratios (ORs) and 95% confidence interval (95% CIs) of risk factors for unfavorable outcomes.Results : The mean follow-up duration for these 43 children was $7.2{\pm}1.5$ years (range, 4.5 to 13.0 years). Of these, 13 (30.2%) had cryptogenic and 30 (69.8%) had symptomatic IS. Eleven (25.6%) children were initially treated with adrenocorticotrophic hormone (ACTH) therapy, with a mean treatment lag of $1.3{\pm}1.9$ months (range; 0.1 to 7.0 months). Eighteen (41.8%) children clinically responded to initial treatment, as shown by EEG response. Overall, 22 (51.2%) children had at least moderate neurodevelopmental disorders and 2 (4.8%) died. In univariate analysis, etiology (symptomatic) and poor electroclinical response to initial treatment were related to long-term unfavorable outcomes. In multivariate analysis, response to primary treatment was the sole significant independent risk factor with a high OR. Conclusion : Overall prognosis of children with IS was poor. Electroclinical non-responsiveness to initial treatment was related to unfavorable long-term outcomes, indicating that initial control of seizures may be important in reducing the likelihood of poor neurodevelopment.

• Clinical and Experimental Pediatrics
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• v.48 no.11
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• pp.1225-1231
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• 2005

Purpose : This study compares the first epileptic seizures between preterm and term-born children with periventricular leukomalacia and epilepsy. Methods : From 108 cases having lesions of high signal intensity around the ventricles in T2 weighted imaging of a brain magnetic resonance study, we selected 37 cases that showed epileptic seizures two times or more and divided them into the group of preterm-born(27 cases) and term-born children(10 cases). A retrospective study was made by comparing the two groups with regard to age, type of the first epileptic seizures, EEG findings and responsiveness to anticonvulsants. Results : The age of the first epileptic seizure was $22.2{\pm}18.3$ months in the preterm-born group and $26.9{\pm}21.1$ months in the term-born group(P=0.505). As for the first epileptic seizure, 11 out of the 27 cases in the preterm-born group had infantile spasms. Out of the 10 cases in the term-born group, 7 had complex partial seizures. In the preterm group, hypsarrhythmias were found in 11 cases, focal epileptiform discharges in 6 cases. In term-born group, focal epileptiform discharges were found in 5 cases but no epileptiform discharge was found in 3 cases. Intractable epilepsies were diagnosed in 6 cases and all of them belonged to the preterm-born group. Conclusion : More severe epilepsies such as infantile spasm and intractable epilepsies seem to be more common in preterm-born epileptic children with PVL as well as more severely abnormal EEG finding compared to term-born epileptic children.