A Cytogenetic Study in Patients with Sex Chromosome Abnormalities / 소아과

PURPOSE: This study was performed to evaluate the recent frequency of karyotypes in different sex chromosome abnormalities and to evaluate the age and clinical manifestations at diagnosis. METHODS: Peripheral blood leukocytes were obtained from subjects who were clinically suspected to have sex chromosome abnormalities and referred to the cytogenetic laboratory in the Department of Pediatrics, Kyungpook National University Hospital from February 1981 to August 2001. RESULTS: The relative frequencies of different sex chromosome abnormalities were Klinefelter (52 percent), Turner (42 percent), XXX syndrome (3 percent) and mixed gonadal dysgenesis (3 percent). The populations of different karyotypes in Klinefelter syndrome were 47, XXY (97 percent) and 46, XY/ 47, XYY (3 percent). The populations of different karyotypes in Turner syndrome were 45, X (67 percent, ), mosaicism (23 percent), and structural aberrations (10 percent). The populations of different karyotypes in XXX syndrome were 47, XXX (67 percent, ) and 46, XX/47, XXX (33 percent). All mixed gonadal dysgenesis were 45, X/46, XY. Eighty one percent of sex chromosome abnormalities was diagnosed after puberty. Patients diagnosed with Klinefelter and Turner syndrome in infancy showed nearly normal phenotypes or had minor congenital malformations. CONCLUSION: Early diagnoses of sex chromosome abnormalities is required to prevent associated morbidities and to maximize growth and development. We have to pay careful attention in diagnoses of Turner syndrome because of the high proportion of mosaicism and structural aberrations.

Efficacy and Safety during the Combination Therapy of Imipramine and Desmopressin in Primary Monosymptomatic Nocturnal Enuresis

PURPOSE: Nocternal enuresis is a common disorder. Tricyclic antidepressant and desmopressin have been accepted pharmacological treatment for this disorder. We conducted a cooperative study to investigate the efficacy and adverse reactions of imipramine, desmopressin and combination treatment in children with primary monosymptomatic nocturnal enuresis(PMNE). METHODS: Data from a large multicenter study were analysed. In the period of 8 months in 2002, the study comprised of 168 children(78 boys and 90 girls, 5 to 15 years old) with PMNE for imipramine, desmopressin or combination treatment. Before treatment a history, physical examination and laboratory tests were performed and the children were observed for 2 weeks. Response rate, adverse reactions and enuresis episodes after stopping drug administration were evaluated after 12-weeks of imipramine, desmopressin or combination of both. RESULTS: After 4 weeks, the frequency of bed wetting in all treated patients decreased during treatment significantly. Even though a 30-50% reduction in the number of wet nights were 68.6%, 74.4% and 86.1% during 12 weeks treatment by imipramine, desmopressin and both of them respectively, there was no significant difference between them. The most common adverse reaction was decreased appetite from imipramine administration. But no serious drug-related adverse events were reported. CONCLUSION: Efficacy of the combination therapy of imipramine and desmopressin in PMNE appears not to be better than either drug alone. It is necessary to pay attention on account of adverse reactions during imipramine treatment even though imipramine and desmopressin were generally well tolerated.

A Case of Incontinentia Pigmenti with Developmental Brain Malformation

Incontinentia pigmenti is a rare neurocutaneous syndrome characterized by vesiculobullous skin disease in neonates and infants, a noninfectious disease that should be distinguished from infectious diseases with the neonatal seizure or encephalopathy. This disease is X-linked dominant with Xq28 region abnormalities and often associated with developmental defects of the ocular, skeletal, dental, and central nervous system. Central nervous system involvement in the neonatal period, or complicated by encephalopathy, may cause severe neurologic impairment, retardation or even death. We experienced a case of incontinentia pigmenti in a three-day-old female patient who had characteristic papulovesicular skin lesions and partial seizures with secondary generalization. Histopathological examination favored the diagnosis of incontinentia pigmenti and a brain MRI showed undifferentiated white matters with periventricular nodular lesions.

Eosionophils in Induced Sputum and Peak Experatory Flow Rate Variability in Children with Allergic Rhinitis / 소아알레르기및호흡기학회지

PURPOSE: A large number of studies have demonstrated that rhinitis and asthma commonly occur together, and that a temporary relationship between the onset of rhinitis and asthma with rhinitis frequently preceding the development of asthma. We studied to know whether there were asthmatic airway inflammations in subjects with allergic rhinitis with bronchial hyperresponsiveness to methacholine who had no asthma symptoms. METHODS: Thirty seven children with an allergic rhinitis who visited the pediatric allergy clinic from January 1998 through June 1999 were enrolled. They were grouped into two groups according to the degree of airway responsiveness to methacholine, and 19 bronchial asthma patients with had no asthma attacks for 2 months were compared as control group.; AR-Mch (+) group (n=19) had a PC20-Methacholine lower than 10 mg/mL: AR-Mch (-) group (n=18) had a PC20-Metacholine greater than 10 mg/mL. The relationship of PEFR variability, sputum eosinophils, and nasal eosinophils with bronchial hyperresponsiveness to methacholine in each groups was compared. RESULTS: 1) The PC20-Methacholine was 5.7+/-3.5 mg/mL in the AR-Mch (+) Group, 1.9+/-2.7 mg/mL in the BA Group. 2) Sputum eosinophil was 14+/-6.9% in the AR-Mch (+) Group, 8.1+/-5.2% in the AR-Mch (-) Group, 29.6+/-16.9% in the BA Group, and sputum eosinophils of the AR-Mch (+) Group was higher than that of the AR-Mch (-) Group. 3) PEFR dinural variation was 7.0+/-2.6% in the AR-Mch (+) Group, 5.0+/-2.9% in the AR-Mch (-) Group, 14.0+/-6.0% in the BA Group, and PEFR dinural variation in AR-Mch (+) Group was higher than that of the AR-Mch (-) Group. 4) The PC20-Methacholine was not correlated with PEFR dinural variation in both the AR-Mch (+) Group and the BA Group. 5) The PC20-Methacholine was correlated with sputum eosinophils only in the BA Group. 6) Nasal eosinophils were not correlated with sputum eosinophils in the AR-Mch (+) and the BA Group. CONCLUSIONS: This study demonstrated that patients with allergic rhinitis who had bronchial hyperresponsiveness to methacholine might have eosinophilic inflammation in the lower airway and increased dinural PEFR. Further studies are necessary to evaluate whether asthma symptoms will be developed in these allergic rhinitis children.

Significance of Eosinophils and Eosinophil Cationic Protein in Induced Sputum in Childhood Asthma / 소아알레르기및호흡기학회지

PURPOSE: Airway eosinophilic inflammation is a characteristic feature of asthma. Sputum analysis can be used as a non-invasive tool to assess severity of the airway inflammation. This study was performed to compare relationships between sputum eosinophils to other parameters of airway inflammation and to evaluate the clinical utility of sputum eosinophils and ECP in childhood asthma. METHODS: A total of 40 asthmatic children over 6 years of age were divided into two groups : Group A of 15 current symptomatic subjects and Group B of 25 stable asymptomatic subjects with history of asthma for 2 weeks. Eosinophils in induced sputum were compared with the severity of asthma symptom, pulmonary function, bronchial hyperresponsiveness by methacholine, sputum ECP, blood eosinophils and serum ECP. RESULTS: 1) Asthmatics had a significantly higher proportion of sputum eosinophils than the control subjects (15.2+/-17.8% VS 3.8+/-4.5%, P<0.01). Group A had a significantly higher proportion of sputum eosinophils than group B (22.9+/-21.7% VS 11.2+/-14.8%, P<0.05). 2) Sputum eosinophils were correlated with symptom scores in asthmatics (r=0.76, P<0.01), inversely correlated with FEV1 in group A (r=-0.65, P<0.01) and with LogPC20 in group B (r=-0.45, P<0.05). 3) Sputum eosinophils were correlated with sputum ECP for group A; r=0.77 (P<0.01) and for group B; r=0.39 (P<0.05) but not correlated with serum ECP. 4) Sputum eosinophils were correlated with blood eosinophils in group A (r=0.67, P<0.05), but not in group B. CONCLUSION: This study suggests that the proportion of eosinophils and the level of ECP in induced sputum may be sensitive and accurate means of assessing the airway inflammation in childhood asthma, and their relationships with blood eosinophils or serum ECP are to be studied further.

Clinical Study of Status Epilepticus in Children

PURPOSE: Convulsive status epilepticus(SE) is a serious, life-threatening neurological condition that requires immediate treatment to avoid significant morbidity and mortality. Despite improvements in the diagnosis and treatment of SE in the last two decades, SE in young infancy is still associated with high morbidity and mortality. Thus, understanding the varied etiology and clinical presentation and prognosis of SE is very important for improving the methods of evaluation and treatment of this major neurological condition. METHODS: Eighty-eight cases with 53 who have been admitted to the Department of Pediatrics, Fatima Hospital during the period of July, 1992 to June, 1997 were included. We described age distribution, etiologic classification according to age, seizure type, neurologic outcome, recurrence of SE and epileptic seizure. RESULTS: SE was frequent in young infant less than 3 years of age. Major etiology of SE was acute symptomatic(34.1%) and febrile(31.8%). In the seizure type, the majority(92.1%) was generalized convulsive, many cases(69.3%) of SE were first seizures. The neurologic sequelae were found in 15.9% and mortality rate in 5.7%. The neurologic sequelae and mortality were higher in acute symptomatic. In sixty-three follow-up cases, eleven cases were epileptic seizure, eight cases were recurred SE and two cases were recurred febrile SE. CONCLUSION: SE is a life-threatening neurological condition and occurrs mostly in young infants less than 3 years of age. It requires immediate detection of etiology in SE and aggressive treatment for reducing mortality and morbidity rates.

A comparison of Sensitization to Major Indoor & Outdoor Inhalant Allergens in Children with Respiratory Allergic Diseases / 소아알레르기및호흡기학회지

PURPOSE: It has been shown that the sensitization to inhalant allergens on the development of asthma or rhinitis in childhood is related to hereditary disposition and environmental factors. This study was conducted to compare the degree of sensitization to major inhalant allergens in bronchial asthma and rhinitis and to find factors which have an effect on it. METHODS: Skin prick tests were done on the 410 atopic bronchial asthma and rhinitis patients who visited the pediatric allergy clinic from January 1987 through December 1996. We divided the patients into 3 groups: an indoor allergen group sensitive to D.p., D.f., cat fur, dog hair and cockroach; an outdoor allergen group to tree pollen, ragweed pollen, and grass pollen; and a group to both indoor and oudoor allegens. RESULTS: 1) Based on their ages, the prevalence of sensitization was relatively high in 5-6 years old, to indoor allergen and in 11-12 years old to the outdoor allergen. 2) Among the subjects sensitized only to indoor allergens, 34.2% had asthma. 6.7% had rhinitis, and 59.1% both diagnoses. For those sensitized only to outdoor allergens, these values were respectively 29.0%, 48.4% and 22.6%, respectively. 3) The prevalence of indoor allergen sensitization was significantly high in children, living in house, in urban areas, and having carpet/sofa/bed at home(P<0.05). CONCLUSIONS: The younger age group showed more sensitization to indoor allergens than to outdoor allergens. The indoor allergens were strongly related to asthma and the outdoor ones to rhinitis. As a result, it seems that it is very helpful for a prevention of asthma in childhood to take an early environmental control for inhalant allergens.