• Journal of Veterinary Clinics
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• v.27 no.4
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• pp.440-444
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• 2010

A 7-year-old neutered male Shih Tzu dog weighing 5.2 kg was presented because of severe neurological signs (paddling, unconsciousness, blindness, seizure). ECG revealed accelerated idioventricular rhythm (AIVR) with ~140 bpm ventricular rate. Based on magnetic resonance imaging (MRI) study and cerebrospinal fluid (CSF) analysis, the neurological condition was tentatively diagnosed as disseminated granulomatous meningoencephalomyelitis (GME). The neurological signs were managed with steroids, anticonvulsive drugs, diuretics and antibiotics with 20% mannitol infusion. The rhythm disturbance (AIVR) was managed with oral medication of mexiletine. Because the heart rhythms were unstable without anti-arrhythmic therapy in spite of improvement of clinical signs after emergency treatment for neurological problems, the anti-arrhythmic therapy was maintained till the neurological signs were abolished.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.12 no.1
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• pp.11-15
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• 2016

Angelman syndrome is characterized by a partial deficit of paired autosomal chromosome 15, which contains a subunit of the GABA (Gamma-Amino Butyric Acid) receptor. The main clinical characteristics of this syndrome are delayed neuropsychological development, intellectual disability, and speech impairment. The syndrome has oral manifestations such as diastemas, tongue thrusting, sucking swallowing disorder, and excessive chewing behavior. A 3-year-6-month old girl with Angelman syndrome was scheduled for dental treatment. She had multiple caries, but she was poorly cooperative for treatment due to developmental delay and movement disorder, so general anesthesia was considered. The patient with Angelman syndrome was successfully treated under general anesthesia. There were no postoperative complications related to anesthesia and dental treatment. When treating children with this syndrome, the dentist needs to manage their uncooperative behavior and medical problem.

• Clinical and Experimental Pediatrics
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• v.50 no.4
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• pp.386-389
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• 2007

Cyclic vomiting syndrome (CVS) is a paroxysmal, recurrent vomiting disorder of unknown pathophysiology and target organ. It has been hypothesized that CVS shares the same mechanism as migraine. We describe here a 5-year-old boy with CVS characterized by episodic vomiting attacks. These recurrent vomiting episodes began at 3 years of age, occurred every month and lasted for 5 days at a time. At the time of admission, no abnormal physical or neurological findings were observed and laboratory findings, including brain MRI and endoscopic examination, revealed nothing specific. The vomiting episodes were self-limited but recurrent and severely interrupted his daily life. When this patient was treated with topiramate, he showed a marked increase of symptom-free periods.

• Herbal Formula Science
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• v.28 no.4
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• pp.451-458
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• 2020

Post-stroke epilepsy (PSE) slows the recovery process and reduces the quality of life of stroke survivors. Antiepileptic drugs are empirically prescribed to prevent PSE. However, the long-term use of antiepileptic drugs increases the risk of atherosclerosis, and up to 25% of patients have drug-resistant epilepsy. Herein, We report a patient with PSE who was treated with Korean medicine including Jingansikpungtang-gagambang and Uwhangchungsimwon. A 51-year-old patient had a past medical history of cerebral infarction that occurred in 2014. His first seizure occurred in January 2020 and he was diagnosed with PSE through a brain magnetic resonance imaging. The patient had a partial seizure with secondary generalization. After the initiation of taking Korean medicine, both the rate of progression to generalized seizures and the frequency of seizures was progressively and significantly reduced. This case report suggests that Korean medicine-based treatment may be safe and effective for PSE.

• 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.

• Journal of Yeungnam Medical Science
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• v.2 no.1
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• pp.103-111
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• 1985

Childhood epilepsy which has high prevalence rate and inception rate is one of the commonest problem encountered in pediatrician. In contrast with epilepsy of adult, in childhood epilepsy, more variable and varying manifestations are found because the factors of age, growth and development exert their influences in the manifestations and the courses of childhood epilepsy. Moreover epileptic children have associated problems such as physical and mental handicaps, psychologicaldisorders and learning disability. For these reasons pediatrician who deals with epileptic children experiences difficulties in making diagnosis and managing them. In order to improve understanding and management of childhood epilepsy, authors reviewed 103 cases of epileptic patients seen at pediatric department of Yeungnam University Hospital retrospectively. The patients were classified according to the type of epileptic seizure. Suspected causes of epilepsy, associated conditions of epileptic patients, age incidence and the findings of brain CT were reviewed. Large numbers of epileptic patients (61.2%) developed their first seizures under the age of 5. The most frequent type of epileptic seizure was generalized ionic-clonic, tonic, clonic seizure (49.5%), followed by simple partial seizure with secondary generalization (17.5%), simple partial seizure (7.8%), a typical absence (5.8%) and unclassified seizure (5.8%). In 83.5% of patients, we could not find specific cause of it, but in 16.5% of cases, history of neonatal hypoxia (4.9%), meningitis (3.9%), prematurity (1.9%), small for gestational age (1.0%), CO poisoning (1.0%), encephalopathy (1.0%), DPT vaccination (1.0%), cerebrovascular accident (1.0%) and neonatal jaundice (1.0%) were found, 30 cases of patients had associated diseases such as mental retardation, hyperactivity, delayed motor milestones or their combinations. The major abnormal findings of brain CT performed in 42 cases were cortical atrophy, cerebral infarction, hydrocephalus and brain swelling. This review stressed better designed classification of epilepsy is needed and with promotion of medical care, prevention of epilepsy is possible in some cases. Also it is stressed that childhood epilepsy requires multidisplinary therapy and brain CT is helpful in the evaluation of epilepsy with limitation in therapeutic aspects.

• Journal of Korean Neurosurgical Society
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• v.30 no.4
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• pp.522-527
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• 2001

We present a case of recurrent extraventricular neurocytoma with malignant glial differentiation in left temporoparietal area. A 37-year-old man with presentation of generalized seizure had undergone biopsy of brain tumor in left parietal area in 1987, which revealed extraventricular neurocytoma and radiotherapy was followed. Postoperative course was uneventful until eleven years after biopsy, when he became gradually aphasic and right hemiplegic. Brain CT and MRI revealed enlargement of tumor with peritumoral edema and calcifications. He underwent subtotal tumor removal in 1998. Microscopic examination of second biopsy specimen revealed presence of large areas composed of anaplastic glial cells with frequent mitosis, nuclear pleomorphism, large eosinophilic cytoplasm and eccentric nuclei, resembling gemistocytes, which were strongly immunoreactive to glial fibrillary acidic protein(GFAP) but not to synaptophysin(SNP). Also focal areas of neuronal cells were found, which were immunoreactive to SNP but not to GFAP. These histologic findings imply that this recurred tumor was a high grade, mixed tumor with divergent differentiation of neuronal and astrocyte lineage. We report a rare case of extraventricular cerebral neurocytoma with malignant glial differentiation with review of the literature.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.24 no.1
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• pp.26-36
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• 2024

Lesch-Nyhan syndrome (LNS) is an Clinical symptoms can range from mild to severe depending on residual enzyme activity and genetic mutations. In Korea, 27 cases of LNS have been reported. We report the results of an 11-year comparative follow-up of two cases of children who visited because of pink diapers, one who died from LNS with no residual enzymes and one case with partial residual enzymes. Case 1: During follow-up, seizures, developmental delay, and regression were observed. The boy experienced insomnia and severe constipation. He exhibited self-mutilating behavior, a grand mal seizure, scoliosis with severe spasticity, truncal hypotonia, choreoathetoid movement, and ataxia. After prolonged emaciation, staghorn calculi, and recurrent pneumonia, the patient died suddenly at the age of 11 years. Genetic testing revealed a hemizygous HPRT1 variant (c.151C>T (p.Arg51Ter)). Uric acid level was 10.5 mg/dL (normal range: ~3.5-7.9) and HPRT activity 0.02 nmol/hr/spot (10-23.8 nmol/hr/spot). Case 2: During follow-up, the patient remained underweight. He has normal intelligence attending primary school. Self-mutilation symptoms were not observed. Regular renal ultrasonography did not reveal urolithiasis. The patient had a hemizygous HPRT1 variant (c.35A>C (p.Asp12Ala)). Uric acid level and HPRT activity were 11 mg/dL and 0.56 nmol/hr/spot. Pink diapers after the neonatal period and severe protein aversion, neurological problems, and kidney stones, differentiation for LNS is necessary. When suspected, serum uric acid levels, HPRT enzyme activity, and molecular biological tests may be helpful in predicting the prognosis of LNS.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.1
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• pp.58-63
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• 2012

Classical galactosemia (OMIM# 230400) is an autosomal recessive disorder of carbohydrate metabolism, due to a complete loss in galactose-1-phosphate uridyltransferase (GALT; E.C.2.7.7.12) enzyme activity. It caused by mutations in the GALT gene (OMIM$^*$ 606999) that is located at chromosome 9p13. The GALT enzyme deficiency results in a build-up of galactose and galactose-1-phosphate, causing life threatening complications such as feeding problems, failure to thrive, hepatocellular damage, bleeding and sepsis. However, Duarte galactosemia, a variant form of GALT deficiency, has residual GALT enzyme activities in erythrocytes and do not have manifest the symptoms of classical galactosemia. Since the advent of newborn screening (NBS) for galactosemia, we rarely encounter such overwhelmingly ill newborns. The positive NBS with no symptoms indicates the possibility of Duarte galactosemia besides a simple false positive and it has to be differentiated from classical galactosemia which is a medical emergency. In Korea, detection rate of Duarte galactosemia is very low and its genetic information is restrictive, too. We report a case of monozygotic twins with D/G galactosemia compound heterozygote in proven by the mutational analysis of GALT gene, which revealed N314D polymorphism and -119 to -116 delGTCA.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.5 no.1
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• pp.1-8
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• 2005

Glutaric acidemia (GA) type II is a very rare inherited disorder that have no accruate figure on its icidende. People with Glutaric acidemia type II have an enzyme that does not work properly. Two specific enzymes are associated with Glutaric acidemia type II:1. Electron transfer flavoprotein (ETF), 2. ETF-ubiquinone oxidoreductase (ETF-QO). Both of these enzymes have similar functions in the body, and children with Glutaric acidemia type II may lack one or the other of these enzymes. They play an important role in breaking down fats and proteins, and help the body to produce energy. GA II clinically manifested as (1) neonatal onset with congenital anomalies (2) neonatal onset without anomalies, and (3) mild and/or later onset. The first two groups are sometimes said to have multiple acyl CoA dehydrogenation deficiency-severe and the third to have multiple acyl CoA dehydrogenation deficiency-mild. The course and age at presentation of later-onset glutaric acidemia type II is extremely variable, therefore it is difficult to diagnosis. We experienced one case of late onset form glutaric acidemia type II with afebrile status epilepticus-like convulsion.