Clinical Manifestation and PRRT2 Analysis of Korean Patients with Paroxysmal Kinesigenic Dyskinesia / 대한소아신경학회지

PURPOSE: Paroxysmal kinesigenic dyskinesia (PKD) is a rare paroxysmal movement disorder characterized by recurrent and brief dyskinesia attacks triggered by sudden voluntary movement. The diagnosis of PKD is based on clinical findings, and mutations in the proline-rich transmembrane protein 2 (PRRT2) gene have been identified as the cause of PKD. Two Korean cohorts have been reported on PRRT2 mutation analysis in PKD patients. The purpose of this study was to determine the mutation spectrum of the PRRT2 gene and to examine the clinical characteristics associated with PRRT2 mutations. METHODS: We studied 23 members of four families with familial PKD and two families with sporadic PKD which included 9 patients and 2 patients, respectively. Mutation analysis of the PRRT2 gene was performed using Sanger sequencing. Clinical features of PKD were compared between patients with a PRRT2 mutation and those with no detectable PRRT2 mutation. RESULTS: PRRT2 mutations were detected in three of four PKD families (75%), and in none of the two sporadic cases (0%). All detected PRRT2 mutations were c.649dupC (p.Arg217Profs*8). Subjects with detected PRRT2 mutations had earlier age at onset and longer duration of attacks. CONCLUSION: As previously reported in Korean PKD patients, our results confirmed that PRRT2 is a major causative gene for familial PKD, and the c.649dupC is the most frequent mutation. PRRT2 mutation analysis is required for the molecular diagnosis of familial PKD and for evaluating the clinical manifestations of PKD.

Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk / 소아과

We report here a case of maternal 3-methylcrotonyl-coenzyme A carboxylase (3-MCC) deficiency in a Korean woman. Her 2 infants had elevated 3-hydroxyisovalerylcarnitine (C5-OH) on a neonatal screening test by liquid chromatography-tandem mass spectrometry (LC-MS/MS), but normal results were found on urine organic acid analysis. The patient was subjected to serial testing and we confirmed a maternal 3-MCC deficiency by blood spot and breast milk spot test by LC-MS/MS, serum amino acid analysis, urine organic acid and molecular genetic analysis that found c.838G>T (p.Asp280Tyr) homozygous mutation within exon 9 of the MCCB gene. Especially, we confirmed marked higher levels of C5-OH on breast milk spot by LC-MS/MS, in the case of maternal 3-MCC deficiency vs. controls.

The Study on Car Sickness in Pediatric Migraineurs / 대한소아신경학회지

PURPOSE: The purpose of this study was to evaluate whether the symptoms of migraine and car sickness coexist or not. In addition, we tried to elucidate whether the car sickness can be a clinical indicator of diagnosing migraine in children. METHODS: A total of 166 children and adolescents who had newly diagnosed migraine and followed up for more than 2 years after the termination of treatment were involved in the study. The co-morbidity or co-existence of symptoms between two conditions in the clinical course was investigated. RESULTS: Sixty three of 124 who had car sickness as well as migraine recovered from migraine. Among these 63 patients, the car sickness disappeared in 44 (69.8%), decreased in 7 (11.1%) and persisted in 12 (19.0%). On the other hand, 23 of those 124 migraineurs continued to have migraine. In these patients, car sickness disappeared in 4 (17.4%), decreased in 5 (21.7%) and persisted in 14 (60.9%). The freedom or alleviation of car sickness is more common in children free from migraine than in children with persistent migraine (P<0.001). CONCLUSION: The results suggest that migraine is closely related to car sickness in children and the clinical course of migraine generally overlaps those of car sickness. We therefore believe that car sickness can be a clinical indicator in the diagnosis of migraine.

Clinical Course and Prognosis of Migraine Headache in Childhood and Adolescence / 대한소아신경학회지

PURPOSE: The purpose of this study was to evaluate the clinical course and prognosis of migraines in childhood and adolescence, and the influence of preventive therapy on them. METHODS: We recruited 110 children and adolescents with migraines who had been newly diagnosed and treated. Treatment was composed of observation after consultation, acute symptomatic treatment, and preventive therapy. We prescribed topiramate for preventive therapy. The recipients of preventive therapy were those patients who complained of disturbance in daily life due to severe headache. The clinical course was evaluated on the basis of changes in the frequency of migraine attack and was divided into three groups: complete recovery, partial recovery, and non-recovery. The prognosis of migraine was classified into those free from migraine attack, decreased, and persistant. RESULTS: Forty-six (41.8%) of 110 patients completely recovered, and 70 (63.6%) were free from migraine attack. In those suffering from migraines without aura, 38.3% of the patients completely recovered and 59.6% were free from migraine attack. Regarding migraines with aura, 58.5% of the patients completely recovered and 70.7% were free from migraine attack. With respect to cases of probable migraine, 18.2% completely recovered and 59.6% were free from migraine attack. In those receiving preventive treatment, 80.0% of all patients completely recovered and 85.0% were free from migraine. According to migraine type, 66.7% of patients with migraine without aura completely recovered and 80% were free from migraine. In those with migraine and aura, 88.8% of patients completely recovered and 88.8% were free from migraine attack. CONCLUSION: It was estimated that the clinical course and prognosis of migraine patients who were treated by pediatric neurologists were generally good. The clinical course was better in the preventive therapy group. In particular, the effect of preventive treatment and prognosis were optimal in patients with migraine with aura.

A case of idiopathic isolated hypoglossal nerve palsy in a Korean child / 소아과

Hypoglossal nerve palsy (HNP) is an uncommon neurological abnormality that can provoke characteristic clinical signs, including unilateral atrophy of the tongue musculature. We present the case of a healthy 11-year-old Korean male who was admitted to the outpatient department of our institution with acute onset dysarthria, tongue fasciculations, and right-sided tongue weakness upon awakening. His evaluation included a virology work-up, neck magnetic resonance imaging (MRI), brain MRI, and otorhinolaryngological physical examination; all tests were normal and showed no evidence of inflammation. Fifteen days after the onset of symptoms, the patient recovered completely. Herein, we report a case of idiopathic isolated HNP in a Korean male.

A study on the therapeutic effects of Topiramate according to the types of migraine / 소아과

PURPOSE: The purpose of this study was to evaluate whether the therapeutic effects of topiramate differ according to the types of migraine. METHODS: We recruited 38 children and adolescents with migraine who had been treated with topiramate. The effect of topiramate was evaluated on the basis of the change in the frequency of migraine attacks after treatment. RESULTS: Among patients having migraine with aura, 85.7% showed complete recovery, 1 (7.1%) showed partial recovery, and 1 did not show any recovery. Among patients having migraine without aura, 47.1% showed complete recovery, 29.4 % showed partial recovery, and 23.5% showed no recovery. Among patients suspected with migraine, 1 (20%) showed complete recovery, 1 (20%) showed partial recovery, and 3 (60%) showed no recovery. CONCLUSION: Our results indicated that topiramate exhibited excellent therapeutic effects for migraine accompanied with aura, and it was effective in migraine without aura. However, the effect of topiramate in patients suspected with migraine was uncertain.

The relationship between the time from arrival at a hospital to delivery and the occurrence of cerebral palsy in premature infants of less than 34 weeks of gestational age / 소아과

PURPOSE: This study aimed to evaluate whether a shorter time from the arrival at a hospital to delivery is related to the occurrence of cerebral palsy in premature infants of less than 34 weeks of gestational age. METHODS: We studied 142 newborns of less than 34 weeks of gestational age. The time from the arrival at the hospital to delivery was measured. The correlation between the time required for delivery and the occurrence of cerebral palsy was elucidated by diagnosing cerebral palsy in neonates using the Korean Infant Development Screening Test and neurological examination. RESULTS: Preliminary result suggested that a shorter time from hospital arrival to delivery was related to a lower development score for gross motor activity and to a higher frequency of cerebral palsy occurrence. Moreover, it was responsible for a tendency of obtaining lower Apgar scores at 1 and 5 minutes. The shorter delivery time was associated with a higher probability of respiratory distress syndrome (RDS) occurrence when the length of delivery time was less than 6 hours and there was a higher probability of a shorter gestation period. However, the multifactor analysis revealed that there was little impact of delivery time on the occurrence of cerebral palsy. Conclusions: The length of hospital arrival time to delivery did not significantly influence the occurrence of cerebral palsy in premature infants of less than 34 weeks of gestational age.

The relationship between the time from arrival at a hospital to delivery and the occurrence of cerebral palsy in premature infants of less than 34 weeks of gestational age / 소아과

PURPOSE: This study aimed to evaluate whether a shorter time from the arrival at a hospital to delivery is related to the occurrence of cerebral palsy in premature infants of less than 34 weeks of gestational age. METHODS: We studied 142 newborns of less than 34 weeks of gestational age. The time from the arrival at the hospital to delivery was measured. The correlation between the time required for delivery and the occurrence of cerebral palsy was elucidated by diagnosing cerebral palsy in neonates using the Korean Infant Development Screening Test and neurological examination. RESULTS: Preliminary result suggested that a shorter time from hospital arrival to delivery was related to a lower development score for gross motor activity and to a higher frequency of cerebral palsy occurrence. Moreover, it was responsible for a tendency of obtaining lower Apgar scores at 1 and 5 minutes. The shorter delivery time was associated with a higher probability of respiratory distress syndrome (RDS) occurrence when the length of delivery time was less than 6 hours and there was a higher probability of a shorter gestation period. However, the multifactor analysis revealed that there was little impact of delivery time on the occurrence of cerebral palsy. Conclusions: The length of hospital arrival time to delivery did not significantly influence the occurrence of cerebral palsy in premature infants of less than 34 weeks of gestational age.

Clinical review of acute seizures among children who visited the emergency room in Masan Samsung hospital from 2004 to 2006 / 소아과

PURPOSE: The purpose of this study was to evaluate acute childhood seizures, one of the most important causes of emergency room visits, to provide appropriate medical services. METHODS: We reviewed the medical records of 433 (4.6%) pediatric patients with acute seizures that visited the emergency room at Masan Samsung hospital from 2004 to 2006. RESULTS: The male to female ratio was 1.4:1 and the mean age was 40.9+/-34.9 months range. The order of geographical distribution was Masan, Changwon, Haman, and others. Fever was present in 40.6% of patients; December (14.8%) was the most frequent month for visits and generalized tonic clonic seizures (62.7%) were the most common type of seizure. The average frequency and duration of the seizure was 1.5+/-1.0 and 6.7+/-13.2 minutes respectively. Febrile seizures were present in 69.7% of patients and afebrile seizures in 30.3%. The causes of the febrile seizures were acute pharyngotonsillitis (44.6%), acute bronchitis, gastroenteritis, pneumonia, urinary tract infection, and unknown origin, in order of frequency. The most common cause of an afebrile seizure was epilepsy (71.5%) followed by a benign convulsion with mild gastroenteritis (BCwMG), sequela of a perinatal brain injury or brain malformation, and acute CNS infection. Evaluation of the causes of an acute seizure according to age showed that febrile seizures, epilepsy, and the sequela of perinatal brain injuries were more common between 2 and 6 years of age and epilepsy, febrile seizures and acute CNS infection, in order of frequency, were common between 6 and 15 years of age. Many patients, 49.4%, were discharged without admission. CONCLUSION: The common characteristics of pediatric patients presenting to the emergency room were male gender, an age between 2-6 years, presenting during the month of December, with generalized tonic clonic seizures due to acute pharyngitis. The most common presentation for the group less than 6 years of age was a febrile seizure and in the group more than 6 years of age, it was epilepsy. In many cases, the seizures stopped by the time the family presented to the emergency room.

A study on the attitudes of middle school students concerning height / 소아과

PURPOSE: The purpose of this study was to evaluate the attitudes of middle-school students about height and their behaviors related to height gain. METHODS: One thousand four hundred twenty two middle-school students were included. We requested that the students complete a battery of questionnaires asking about problems associated with height. RESULTS: There was a clear difference between real height and desired height. Most students (83.7%) had height dissatisfaction. Most students (91.1%) were concerned about their height. Few students made efforts to improve their height, even though most students had height dissatisfaction and were concerned about their height. Herbal medicine had a tendency to become popularized in treatments for height. Students generally did not judge their friends by height, but there was a small tendency to ignore shorter friends and to feel a sense of inferiority around taller friends. Most students had a greater desire to have a beautiful face than a good body, especially to be tall. Most students thought that there would be some handicaps in life if they had a short stature. CONCLUSION: The attitudes and concerns about height in adolescence should be understood, and recognized as one aspect of treatment for problems associated with height.

A case of childhood relapsing/remitting multiple sclerosis and interferon beta-1b treatment in a Korean patient / 소아과

Multiple sclerosis (MS) is a demyelinating disorder that affects discrete areas of the CNS, including the optic nerves, in a quite variable relapsing-remitting fashion over a prolonged period of time. Although MS is usually considered to be a disease that affects peoples in early to middle adulthood, children do develop multiple sclerosis. The frequency of MS onset before the age of 15 years is 2.7-5% of all cases, while MS onset during infancy and early childhood was observed to be 0.2- 0.7% of all cases. We report here on a Korean case of a relapsing-remitting MS female child who was treated with four rounds of intravenous methylpredinsolone pulse therapy and preventive Interferon-beta-1b (Betaferon(R)).

The Study for Therapeutic Effects of Topiramate on Pediatric Patients with Migraine, Especially Accompanied by Aura / 대한소아신경학회지

PURPOSE: This study was undertaken to investigate the therapeutic effects of topiramate on pediatric patients with migraine, especially migraine accompanied by aura. METHODS: From January. 2004 to December. 2006, we reviewed the medical records of 27 patients who were diagnosed as migraine and treated with topiramate. And we analysed to see whether there was any improvement of symptoms based on the migraine criteria by International Headache Society. RESULTS: There was a correlation between the migraine criteria and the improvement of symptoms after the treatment by topiramate. The symptoms of nausea, vomiting and hypersensitivity to light and sound were not associated with the improvement of symptoms after the treatment by topiramate. The symptom of aura was related with the improvement of symptoms, moreover, closely related with disappearance of symptoms after the treatment by topiramate. CONCLUSION: It is estimated that more accurate diagnosis coupled with the presence of aura is a condition to improve the treatment effects of topiramate.

Voiding cystourethrography in children with an initial episode of febrile urinary tract infection / 소아과

PURPOSE: Because voiding cystourethrography(VCUG) is an invasive method, we studied whether VCUG could be postponed through evaluation of alternative non-invasive tests including renal ultrasonography and (99m)Tc-DMSA renal scan. METHODS: We reviewed the medical records of 175 patients initially diagnosed with febrile urinary tract infection during the one year period of 1999, and compared 3-tests:renal ultrasongraphy, (99m)Tc-DMSA renal scan, and VCUG. RESULTS: Renal ultrasonography didn't contribute to the prognostication of pyelonephritis(photopenic areas) or vesicoureteral reflux(VUR). Presentation of photopenic areas in (99m)Tc-DMSA renal scan was related to VUR. If both findings of renal ultrasonography and (99m)Tc-DMSA renal scans were normal, this condition was closely related to normal results in VCUG. And if both examinations were abnormal, the condition was closely related to VUR. But this state could not always guarantee the normal result from VCUG because of low sensitivity in finding VUR. CONCLUSION: In cases in which acute phyelonephritis is demonstrated by (99m)Tc-DMSA renal scan, VCUG is required. In addition to this, if the conditions of hydronephrosis, vesicoureteral dilatation, increases of renal volume, and changes of echogenesity are shown by renal ultrasonography, VCUG should be performed. If a patient has difficulty undergoing VCUG, temporary postponement of VCUG can be taken into consideration, but only in cases where both examinations of renal ultrasonography and (99m)Tc-DMSA renal scan are normal. Nevertheless, close observation is be advised even in this case.

A Clinical Study on Relationship of Surgical Glove and Back Pain after Lumbar Puncture in Children / 소아과

PROPOSE: In this study, we evaluated whether powder on surgical gloves is a cause of postpuncture backpain in children. MOTHODS: In 164 children with meningitis between July and September 1997, we did not remove powder from surgical gloves. However, in 149 children with menigitis between May and October 2001 the powder was removed from the surgical gloves. RESULTS: Out of the 164 patients in 1997, 41 cases(25.00%) were found to have postdural puncture backpain. On the other hand, out of 149 patients in 2001, with whom we used gloves from which the powder was removed, we found only 8 patients(5.36%) with postdural puncture backpain. CONCLUSION: We conclude that the powder on surgical gloves is one of the main causes of postdural puncture backpain in children.

A Study on the Relationship between School-age Obesity and Type of Feeding in Infant Period / 소아과

PURPOSE: The aim of this study was to evaluate whether breast milk feeding at infancy has the effect of a programming agent preventing school-age obesity, or whether formula milk feeding is the cause of elementary school-age obesity. METHODS: We randomly selected 4 elementary school in Masan and Changwon city. We calculated the BMI and obesity degree from height and weight data on the school record of 1, 275 children of first and second grade. The parents of 1, 275 children were asked to a questionnaire about their birth history and feeding modality during infancy. Based on these data, we categorized them into 4- different groups: breast fed for less than 2 months; breast fed for 2-6 months; breast fed more than 6 months; mixed fed. We compared the mean BMI, obesity degree and prevalence rates of obesity of each groups. RESULTS: There was no statistical difference on the prevalence rates of overweight and obesity, which was defined by BMI, according to the duration of breast feeding. The same was true for mild obesity and moderate obesity, which was defined by obesity degree. The mean BMIs and the mean obesity degree were not different among different feeding types. CONCLUSION: There seems to be no protective effect of breast feeding during infancy on reducing the prevalence rates of overweight and obesity. However, even wider and larger studies considering confounding factor might be needed to reach a definite conclusion in the future.

Clinical Considerations about Mycoplasmal Pneumonia in Children in South Gyeongnam Area / 소아알레르기및호흡기학회지

PURPOSE: Mycoplasmal pneumonia is one of the most common respiratory diseases in childhood, and is increasing in frequency. We reviewed several aspects of Mycoplasmal pneumonia for applying treatment. METHODS: We reviewed clinical and radiological features of 79 cases of serologically proven Mycoplasmal pneumonia in admitted children between January and December 2003. RESULTS: The mean age was 4 years 2 months and the sex ratio was 1: 1.25 in the male to female ratio. The peak incidence of monthly distribution was September. On the chest x-ray examination, bronchopneumonia was the most common type and the right lower lobe (RLL) was the most common unilateral involvement in lobar consolidation. Leukocytosis, positive CRP and positive ESR were common findings in Mycoplasma pneumonia. CONCLUSION: In this study, peak incidence of monthly distribution did not conflict with previous reports but peak incidence of age in Mycoplasmal pneumonia was lower than in those reports. More studies are needed to prove changes of previous manifestations in Mycoplasmal pneumonia.

A Case of Chronic Granulomatous Disease in which Enterococci were Observed in Culture

Chronic granulomatous disease(CGD) is a genetically inherited disorder caused by the failure of phagocytic cells to produce superoxide. It is characterized by frequent and uncontrollable infection which often lead to death in early childhood. The first clinical signs may be confined to skin and manifest themselves as abscesses, pyoderma, eczema or draining sinuses. The disease was first reported in 1957 and thereafter the biomolecular mechanism has been found. The first report in Korea was an autopsy case in 1979 and since then there have been a few case reports. This disease is diagnosed by symptoms, such as high fever, cervical lymphadenopathy, skin nodule, lung field infiltration, periumbilical abscess, liver abscess, pyoderma and pericordal abscess. The pathogen here were catalase producing bacteria and fungi. However, we have experienced a case of CGD, in which symptoms were perianal, scrotal abscesses and lung field nodular infiltration. In this case the pathogen was found as a catalase negative Enterococcus. (J Korean Pediatr Soc 2000;43-846-850)