ABSTRACT
Angelman syndrome is a neurogenetic disorder which results from the loss of expression of a maternal imprinted gene, UBE3A, mapped within 15q11-q13 presenting with various neurodevelopmental problems. We report a 3 year-old-girl who had severe developmental delay, speech impairment, ataxic gait, jerky movement and recurrent seizures with abnormal EEG, characteristic pattern with high amplitude slow spike-and-wave discharge on the bifrontal region. The patient was genetically confirmed Angelman syndrome who had two episode of status epilepticus with cortical atrophic changes on her left hemisphere. Angelman syndrome should be suspected in differential diagnosis in infant who has severe speech and developmental delay, tremulous movement accompanied by cryptogenic seizure disorders including characteristic EEG features.
Subject(s)
Humans , Infant , Angelman Syndrome , Atrophy , Diagnosis, Differential , Electroencephalography , Epilepsy , Gait , Language Development Disorders , Seizures , Status EpilepticusABSTRACT
PURPOSE: This study is intended to investigate results of skin prick tests, family history, and diet pattern in patients under 2 years of age diagnosed with atopic dermatitis (AD). METHODS: A total of 82 AD patients and 53 controls participated in this study. They visited outpatient department of Pediatrics in Pundang Cha hospital from July 2002 to May 2003. Questionnaire survey about family allergy history, duration of breast feeding, time of first weaning, kinds of foods eaten from birth was performed. Skin prick tests were performed with food allergens that consisted of egg, milk, mixed bean, beef, pork, cod, mixed flour and D. f. as aeroallergen, histamine as positive control, normal saline as negative control. RESULTS: Egg (19.5%), milk (11.0%), D. f. (9.8%), cod (8.5%) were the common allergens in AD patients. Erythema and wheal size was 14.6 mm, 2.7 mm in AD patients and 8.5 mm, 1.6 mm in controls (P< 0.05). There was no significant effect of age on the skin reactivity to histamine. Odd ratio of atopy was 31.6 (95% CI: 4.2-240.3) and that of family history was 2.6 (95% CI: 1.3-5.2). The mean age of the start of weaning was 5.6 months in AD patients and 4.5 months in controls (P< 0.05). There were no significant differences in duration of breast feeding and the number of foods eaten from birth between AD patients and controls. CONCLUSION: Egg, milk, D. f., and cod were the common allergens in AD patients under 2 years of age. This means that it is necessary for AD patients to have proper guide for weaning diet and regulation of environment. Allergy history of parents has high relative risk and therefore the high risk infants require positive prophylactic counterplans for AD.
Subject(s)
Humans , Infant , Allergens , Breast Feeding , Dermatitis, Atopic , Diet , Erythema , Flour , Food Hypersensitivity , Histamine , Hypersensitivity , Milk , Outpatients , Ovum , Parents , Parturition , Pediatrics , Surveys and Questionnaires , Skin , WeaningABSTRACT
BACKGROUND: Airway hyperresponsiveness has been estimated by means of forced expiratory volume in 1 second(FEV1) through the methacholine inhalation challenge test(MIC). But it is difficult to do the forced expiratory maneuver for measuring FEV1 in children. It is relatively easy to measure peak expiratory flow rate(PEFR) by portable peak expiratory flow meter(PEFM). OBJECTIVE: The purpose of this study is to evaluate whether FEV1 by means of MIC could be appropriately replaced by the measurement of PEFR. METHOD: A total of 30 subjects aged from 7 to 15 years with recurrent cough were enrolled in this study. MIC was performed with stepwise cumulative dose and both FEV1 and PEFR were measured at each step. The study was discontiued at the point of 20% reduction of FEV1 from the baseline value. FEV1 and PEFR were measured after salbutamol was inhaled by nebulizer. RESULT: There were significant correlations with reduction rates(r1=0.59, P<0.05) and recovery rates(r2=0.60, P<0.05) between FEV1 and PEFR, respectively. The sensitivity, specificity, positive predictive and negative predictive value of PEFR(PC20-FEV1 and PC20-PEFR<8 mg/ml) were 63.6, 94.7, 87.8 and 81.8%, respectively(P<0.05). CONCLUSION: Although PEFR measurement by means of MIC revealed low sensitivity, high specificity and positive predictive value could be obtained. These results indicate that PEFR measurement by means of MIC may be useful for diagnosing the airway hyperresponsiveness in children, although it cannot be replaced completely.