• Childhood Kidney Diseases
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• v.8 no.1
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• pp.68-73
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• 2004

Both Gitelman syndrome and Bartter syndrome are autosomal recessively inherited renal tubular disorders characterized by hypokalemic metabolic alkalosis, salt wasting and normal to low blood pressure. Gitelman syndrome is caused by mutations in the thiazide-sensitive Na-Cl cotransporter (NCCT) and distinguished from Bartter syndrome, which is associated with mutations of several genes, by the presence of hypomagnesemia and hypocalciuria. In most of the patients with Gitelman syndrome, the disease manifests with transient episodes of muscular weakness and tetany in the adult period, but, often, is asymptomatic. We report here an 11 years-old female with Gitelman syndrome who presented with aggravation of epileptic seizure. The diagnostic work-up showed typical clinical features of metabolic alkalosis, hypokalemia, hypomagnesemia and hypocalciuria. We also identified a heterozygote mutation($^{642}$CGC(Arg)>TGC(Cys)) and an abnormal splicing in the SLC12A3 gene encoding NCCT.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.15 no.1
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• pp.40-44
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• 2019

Moyamoya disease (MMD) is a chronic, occlusive cerebrovascular disease of unknown etiology characterized by progressive stenosis at the terminal portion of the internal carotid artery and an abnormal vascular network at the base of the brain. The clinical presentations of MMD include transient ischemic attacks (TIA), ischemic stroke, hemorrhagic stroke, seizures, headache, and cognitive impairment. MMD is the most important cause of stroke or TIA in children in East Asian countries. A 5-year-3-month old boy with MMD experienced cerebral infarctions five times. Cerebrovascular anastomosis surgery was performed on him four years ago. He had dysphagia, developmental delay, hemiplegia, and strabismus. Besides, a number of dental caries in primary dentition were identified during clinical oral examination. Dental treatment under general anesthesia using sevoflurane was performed due to his lack of cooperation and underlying systemic disease. MMD is associated with various medical diseases requiring thoughtful consideration during dental treatment. Crying and hyperventilation in MMD patients may cause hypocapnia and have a cerebral vasoconstrictive effect. If dental treatment is required, control of pain and anxiety is very important. General anesthesia may be considered for dental treatment in uncooperative or very young patients with MMD.

• Pediatric Infection and Vaccine
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• v.5 no.2
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• pp.230-238
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• 1998

Purpose : Worldwidely, the incidence of the hepatitis A has been markedly decreased in the past years. Also in Korea, there has been only a few sporadic cases without evidence of epidemics since the mid 1980s. However, the incidence of the hepatitis A in young adults and childen has been in trends of increasing since 1996. So, we retrospectively performed the study on the epidemiolgical changes and the clinical feature of hepatitis A in childen, living in Kyung-gi province, since 1988 to 1998. Methods : The four affiliated hospitals of the Catholic University of Korea, Our lady of Mercy's hospital, Holy family hospital, Eui-Jung-bu St. Mary's hospital, and St. Vincent hospital, were enrolled in this study. We conducted statistical analysis on the incidence of hepatitis A since 1988 to 1998, concerning with the period (monthly, annually), age, sex and related epidemiological property, by reviewing the hospital records of the patients with hepatitis A. We simultaneously performed the study concerning with the clinical characteristics of hepatitis A. Results : 1) During the study period, 46 children was diagnosed as hepatitis A, and among them 28 children (60.1%) developed sporadically in the 1998. And sex ratio was 1.2(male):1(female). 2) Most of the patients developed between March and July, and hepatitits A were mainly developed in the patients above the 10 year old ages(37 patients; 80.4%). 3) The socioeconomic and educational status of the patient's parents was almostly below the middle and low class. Although, we could not find the etiological factors in most cases, but we found the evidence of interfamilial transmission in one family. 4) The patients complained the symptoms of nausea and vomiting, jaundice, poor appetite, mild fever, fatigueness, abdominal pain, URI symptom, dyspepsia, dark urine, headache and diarrhea in order, and findings of jaundice, hepatomegaly, RUQ tenderness, splenomegaly and LLQ tenderness in order were seen. 5) All patients showed abnormal findings of the liver function tests, and the pattern of cholestatic hepatitis were seen in most cases, but these findings were normalized within the 2~4 weeks. The findings of the gall bladder wall thickening, hepatomegaly, splenomegaly and ascites were seen on abodominal sonogram. 6) The prognosis of all patients were good without complications, except in one case who had the episode of transient recuurence. And the mean hospitalization dates were 11.1 days. Conclusion : We found that the incidence of hepatitis A showed the increasing trend, and peaked in the 1998 in Kyung-gi province children. And hepatitis A mainly developed in children above the 10 year old ages. The scioeconomic and educational status of patient's family was almostly below the middle class. All of them showed abnormal liver function, and clinically cholestatic hepatitis features were seen in most cases. But, the prognosis was excellent without complication in all cases.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.7 no.1
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• pp.77-91
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• 1996

In order to elucidate the biological etiology and the effects of comorbidity on biological variables in tic disorders, plasma serotonin (5-hydroxlfryptamine, 5-HT) and 5-hydroxy- indoleacetic acid (5-HIAA) we.e measured in 87 tic disorders and 30 control subjects. The 87 tic disorder were composed of 45 Tourette's disorder(TS), 22 chronic motor tic disorders (CMT) and 20 transient tic disorders (TTD). Among these patients,43 patients were pure tic disorder (PT), 28 subject also had attention deficit hyperactivity disorder (T+ADHD) and 16 subjects had obsessive compulsive disorders (T+ OCD) as comorbid disorders. The results are summarized as follows : 1) Plasma 5-HT levels showed significant positive correlations with plasma 5-HIAA levels (Pennon r=0.77, p<0.05). 2) Plasma 5-HT and 5-HIAA levels showed no significant correlation with age in tic disorders. 3) Plasma 5-HIAA and 5-HT levels showed no significant correlations with age in control subjects. 4) There was significant difference in plasma 5-HT levels among TS, CMT, TTD and control groups (ANOVA F=34.48, df=3, 113, p<0.01), and post-hoc test using Scheffe method showed significant differences between control and TS, control and CMT, control and ITD groups. But, post-hoc test showed no significant differences between TS and CMT, TS and TTD, CMT and TTD groups. 5) There was significant difference in plasma 5-HIAA levels among TS, CMT, TTD and control groups (ANOVA F=26.48, df=3, 113, p<0.01), and post-hoc test using Scheffe method showed significant differences between control and TS, control and CMT, control and TTD groups. But, post-hoc test showed no significant differences between TS and CMT, TS and TTD, CMT and TID groups.f) There was significant difference in plasma 5-HT and 5-HIAA levels among PT, T+ADHD, T+OCD and contol groups (ANOVA 5-HT, F=37.59, df=3, 113, p<0.01, 5-HIAA, F=27.37, df=3, 113, p<0.01), and post-hoc test using Scheffe method showed signiscant differences between control and PT, control and T+ADHD and control and T+OCB. But, post-hoc test showed no significant differences between PT and T+ADHD, PT and T+ OCD and T+ADHD and T+ OCD. These results show that decreased 5-HT and 5-HIAA levels may play a role in the genesis of tic disorders, but these findings have no significant correlations with the severity of tic disorders. And the comorbid disorders of tics may have minimal effects on the biochemical abnormalities. Future studies must be focused on the effects of serotonin agonists and antagonists on tic disorders and molecular biological methodology may enhance to elucidate the mechanisms of these abnormal findings.