Human Herpesvirus 6 Meningitis in a Neonatal Case

Incidence of human herpesvirus-6 (HHV-6) infection in the neonatal period has been reported in few cases. HHV-6, commonly responsible for roseola, is known to establish infection during infancy and early childhood. A 14-day-old neonate, presented with a fever of 38.3℃, primarily due to an HHV-6 infection, was admitted to our neonatal intensive care unit. A polymerase chain reaction (PCR) of his cerebrospinal fluid was positive for HHV-6. Additionally, serology for HHV-6 PCR was positive. We believe that HHV-6 can cause infection in febrile newborn infants.

RUNX1 Germline Mutation in a Patient with Chronic Thrombocytopenia / 임상소아혈액종양

One of the pathophysiologic mechanism of inherited thrombocytopenia is a defect in transcription factors that regulate the expression of multiple genes required for megakaryopoiesis. Runt-related transcription factor 1 (RUNX1) binds to its heterodimeric partner, core binding factor beta (CBFβ), and forms a core binding factor that regulates the expression of various target genes. The association between RUNX1 germline mutations and familial platelet disorder with associated myeloid malignancy was first reported in 1999. Although this disease has various phenotypes and penetration, the most common symptom is a bleeding tendency due to thrombocytopenia and platelet dysfunction. Myelodysplastic syndromes or acute myeloid leukemia may also develop in 35-40% of cases. We identified a heterozygous mutation in the RUNX1 gene using diagnostic exome sequencing in an adolescent with chronic thrombocytopenia.The patient will be followed continuously for hematologic malignancies that may develop in the future. This case illustrates the importance of diagnosing inherited thrombocytopenia to provide adequate follow-up for hematologic malignancies and reduce unnecessary treatment.

A Multicenter Survey on the Current Status of Pediatric Blood Cultures in Korea

PURPOSE: Blood culture is an essential diagnostic tool and requires clear indications, proper techniques, and quality control. We aimed to investigate whether blood cultures in children are appropriate for indications, are performed correctly, and receive proper quality control. METHODS: We conducted an online survey targeting pediatric infectious diseases (ID) specialists working in general hospitals and neonatologists (Neo) working at hospitals operating a neonatal intensive care unit in Korea. RESULTS: Approximately 81.1% (30/37) of pediatric ID specialists and 72.2% (52/72) of Neo responded to the survey. Some of the respondents (33.3% of ID and 59.6% of Neo) performed blood culture as a regular test irrespective of the indication. Approximately 40% of ID and 65.4% of Neo ordered only one set of blood culture in patients suspected with bacteremia. The most commonly used disinfectant for skin preparation was povidone-iodine, while the skin preparation method varied by institution. Approximately two-thirds of the institutions were monitoring the blood culture contamination rate, whereas relatively few provided staff with feedback on that rate. In addition, less than half of the institutions were providing regular staff training on blood culture (40% of ID and 28.8% of Neo). CONCLUSIONS: The indication and methods of blood culture for children varied according to institution, and few hospitals exert effort in improving the quality of blood culture. Institutions have to strive constantly toward improvement of blood culture quality and evidence-based recommendations for pediatric blood cultures should be standardized.

Hemiplegic Migraine Presenting with Unilateral Facial Palsy: A case report / 대한소아신경학회지

Hemiplegic migraine (HM) is a rare subtype of migraine with aura and is accompanied by a fully reversible motor aura. HM can occur in two forms: familial or sporadic. Currently, three genes are related to familial HM. Typically, HM occurs in the first or second decade of life and involves gradually progressing aura symptoms in succession, accompanied by headaches. The aura includes visual, sensory, motor, aphasic and often basilar-type symptoms. Motor aura (weakness) is related to the regions where the sensory aura is involved, and it usually starts at the hand before spreading to the arm and face. Aphasia is a common form of speech aura, but does not typically present as a difficulty in understanding. In this case report, the sensory-motor aura started at the right face and then gradually progressed to the right leg without any symptoms in the ipsilateral upper extremity. To the best of my knowledge, there has been no previous case report for the presentation of a hemiplegic migraine, as in this case report. As there is a possibility of misdiagnosis of Bell's palsy at the early stage of this case, this case report suggests that a physician should consider the rare possibility of stroke or HM when a patient presents with unilateral facial palsy.

PHACE Syndrome with Large Facial Segmental Hemangioma and Cerebellar Hypoplasia / 임상소아혈액종양

Infantile hemangiomas are the most common benign tumors in infants. Facial segmental hemangiomas are often accompanied by other anomalies, and pre-treatment evaluation is needed. PHACE syndrome is associated with Posterior fossa anomalies, Hemangiomas, Arterial anomalies, Cardiac anomalies, and Eye anomalies (PHACE). PHACE syndrome is diagnosed in about 30% of patients with facial segmental hemangiomas. In PHACE syndrome, facial hemangioma usually requires initial treatment; propranolol use is increasing as a first-line treatment despite the risk of stroke. We report a case of PHACE syndrome in a patient with large facial hemangiomas, left cerebellar hypoplasia, and an absent A1 segment of the anterior cerebral artery. After 1 year of treatment with oral propranolol, facial hemangiomas improved and normal development was observed until 24 months of age. Evaluation of PHACE syndrome is important in patients with large facial segmental hemangiomas, and propranolol can be considered a first-line therapy for hemangioma.

Acute Combined Central and Peripheral Demyelination in Children: in Comparison with Isolated Demyelinating Disease

PURPOSE: This study aimed to describe the clinical characteristics and outcomes of children with acute combined central and peripheral nervous system demyelination (CCPD); and compare with the children of isolated acute central or peripheral nervous system demyelination. METHODS: A retrospective chart review of 145 children with acute demyelinating disease between 2010 and 2015 was undertaken in children with younger than 18 years old. Among these, 96 fulfilled criteria (clinical features and positive neuroimaging or electromyography/nerve conduction studies) for either acute central (group A, n=60, 62.5%) or peripheral (group B, n=30, 31.3%) nervous system demyelination, or a CCPD (group C, n=6, 6.3%). RESULTS: Significant differences among the groups (A vs B vs C) were evident for occurrence of disease between 2013-2015 (45.0% vs 43.3% vs 83.3%; P=0.024), admission to intensive care unit (8.3% vs 26.7% vs 50.0%; P=0.027), length of hospitalization (median, 9.7 vs 12.3 vs 48.3 days; P<0.001), treatment with steroids (88.3% vs 10.0 vs 100.0%; P=0.003), immunoglobulins (13.3% vs 100.0% vs 100.0%; P=0.002) and plasmapheresis (0.0% vs 3.3% vs 50.0%; P=0.037) and severe disability at discharge (3.3% vs 16.7% vs 33.3%; P=0.012). Children of group C showed good response to simultaneous use of immunoglobulin and high-dose corticosteroids and earlier try of plasmapheresis, however, two patients had moderate degree of neurological disability. CONCLUSION: Systemic studies using neuroimaing and electromyography/nerve conduction studies in all patients with demyelinating disease will be necessary to verify the combined or isolated disease, because CCPD might have the poorer outcome than isolated disease.

Seizure Aggravation Following Adjunctive Levetiracetam Therapy in Children with Epilepsy: a Single Tertiary Center Experience

PURPOSE: The aim of this study is to evaluate the prevalence and risk factors of seizure aggravation of adjunctive levetiracetam therapy in children with epilepsy. METHODS: We retrospectively identified 125 children (0.3–18 years) with epilepsy who were newly treated with adjunctive levetiracetam therapy from November 2008 to July 2014 in Pusan National University Hospital, and 44 patients were excluded according to the exclusion criteria. Aggravation was diagnosed if the seizure frequency increased by more than 50% of baseline or there were new types of seizures after 1 month of adjunctive levetiracetam therapy. RESULTS: Eighty-one patients (male:female, 44:37) were enrolled, including 27 (33.5%) with generalized seizures and 54 (66.7%) with focal seizures. Twelve patients (14.8%) exhibited seizure aggravation and 69 patients (85.2%) had improvement or no change after 1 month of levetiracetam therapy. Eleven patients (91.7%) in seizure aggravation group and 16 patients (23.2%) in non-seizure aggravation group had generalized seizures, with aggravation significantly more frequent in patients with generalized seizures (P < 0.001). Other factors such as age at diagnosis, age at adding levetiracetam, sex, baseline seizure frequency, etiology, electroencephalography and magnetic resonance imaging abnormalities, and concomitant drug use were not identified as risk factors. CONCLUSION: Although levetiracetam is an effective antiepileptic drug in children with epilepsy, adjunctive levetiracetam therapy was associated with worsening of seizures in 14.8 % of included patients, especially those with generalized seizures. Careful monitoring for increased seizure frequency or the onset of a new type of seizures is advised for patients prescribed levetiracetam add-on treatment.

PHACE Syndrome with Large Facial Segmental Hemangioma and Cerebellar Hypoplasia / 임상소아혈액종양

Infantile hemangiomas are the most common benign tumors in infants. Facial segmental hemangiomas are often accompanied by other anomalies, and pre-treatment evaluation is needed. PHACE syndrome is associated with Posterior fossa anomalies, Hemangiomas, Arterial anomalies, Cardiac anomalies, and Eye anomalies (PHACE). PHACE syndrome is diagnosed in about 30% of patients with facial segmental hemangiomas. In PHACE syndrome, facial hemangioma usually requires initial treatment; propranolol use is increasing as a first-line treatment despite the risk of stroke. We report a case of PHACE syndrome in a patient with large facial hemangiomas, left cerebellar hypoplasia, and an absent A1 segment of the anterior cerebral artery. After 1 year of treatment with oral propranolol, facial hemangiomas improved and normal development was observed until 24 months of age. Evaluation of PHACE syndrome is important in patients with large facial segmental hemangiomas, and propranolol can be considered a first-line therapy for hemangioma.

Guillain-Barré Syndrome Caused by Influenza Virus

Guillain-Barré syndrome (GBS) is caused by antecedent infectious diseases in approximately two-thirds of cases. GBS is considered an autoimmune response. Among reported preceding infections, influenza virus is relatively rare. Several reports have identified antibodies related to GBS pathogenesis. However, no case report has described the detection of influenza virus in the cerebrospinal fluid (CSF) of a patient with GBS by polymerase chain reaction (PCR). Here we report the case of a 6-year-old girl who was diagnosed with influenza A 1 week prior and was treated with oseltamivir, after which she visited our hospital for headache and bilateral leg weakness that had persisted for 1 day. We diagnosed her with GBS based on physical and neurologic examination findings, CSF analysis, nerve conduction velocity test results, spinal magnetic resonance imaging, and detection of influenza A virus in her CSF by PCR. She was treated with intravenous immunoglobulin and her symptoms slowly improved. This case report suggests that GBS may be caused by influenza virus through penetration of the CSF.

The use of complementary and alternative medicine in children with common neurologic diseases / 소아과

Complementary and alternative medicine (CAM) is a phrase used to describe additional health care methods such as mind/body practices and natural products not regarded as treatments by conventional medicine. The use of CAM in children with common neurologic diseases is more frequent than its use in healthy children (24%–78% vs. 12%). However, less than half of patients report such use to their physicians. The preferred modalities of CAM vary in different countries due to their different cultures and traditions. The most common factor significantly associated with the use of CAM is parental CAM use in most studies. The frequency of the use of CAM in children and adults with neurologic diseases is similar, and both rates are higher than the rates in those without these conditions. The preferred modalities of CAM in adults are diverse, and megavitamins and mind/body therapy (prayer and chiropractic care) are included. The most common factor significantly associated with the use of CAM in adults with neurologic diseases is high educational level. Physicians need to be concerned with patients' use of CAM and provide correct information about CAM so that patients may make the right decisions. Further study is needed to determine the evidence-based efficacy of CAM use in children with common neurologic diseases.

Hyponatremia in Children with Central Nervous System Infections

PURPOSE: To compare the effect of different etiologies in children with central nervous system (CNS) infections on the incidence of initial and hospital-acquired hyponatremia (IH and HAH) (plasma sodium concentration, PNa or =0.45% saline in dextrose. RESULTS: Of 244 children with CNS infections (group A: 185, group B: 33, group C: 23, and group D: 3), 55 patients (22.5%) revealed IH- or HAH-hyponatremia. IH and HAH was found in 13.1% (32/244) and 9.4% (23/244), respectively. The incidence of IH was significantly higher in group-C (30.4%, P=0.010) than in group-A (9.2%) or group-B (21.2%). HAH was more frequent in group-B (27.3%, P<0.001) and in group-D (66.7%, P=0.001) than in group-A (4.9%) or in group-C (13.0%). Of the patients in group-I, 28.6% (8/28) developed more common HAH compared with 6.9% (15/216) of children in group-II (P<0.001). CONCLUSION: IH and HAH were relatively common in children with CNS infections and their incidences were distinctly different among patients from different etiologies. It seems that the administration of hypertonic saline can help to reduce the incidence of HAH among children with CNS infections. election.

Moyamoya syndrome occurred in a girl with an inactive systemic lupus erythematosus / 소아과

We report the case of a 17-year-old Korean girl with systemic lupus erythematosus (SLE) who presented with sudden weakness of the right-sided extremities and dysarthria. Oral prednisolone was being taken to control SLE. Results of clinical and laboratory examinations did not show any evidence of antiphospholipid syndrome or thromboembolic disease nor SLE activity. Cerebral angiography showed stenosis of the left internal carotid artery and right anterior cerebral artery with accompanying collateral circulation (moyamoya vessels). After the patient underwent bypass surgery on the left side, she recovered from the neurological problems and did not experience any additional ischemic attack during the 14-month follow-up period. This case represents an unusual association between moyamoya syndrome and inactive SLE (inactive for a relatively long interval of 2 years) in a young girl.

The Clinical Significance of a History of Independent Walking in Children with Epilepsy

PURPOSE: The developmental history is an important element in the evaluation of children with epilepsy. However, obtaining accurate information from history is often very difficult especially in older children because of their parents' incomplete recollection. This study was aimed to investigate if the timing of independent walking has a valuable clinical significance in children with epilepsy. METHODS: We classified 262 patients with epilepsy into normal and delayed groups from a history of the timing of independent walking at 18 months as a cutoff point. We compared their clinical and laboratory characteristics between two groups. RESULTS: Out of 262 patients, twenty one (8%) were delayed. There was no difference in seizure types between two groups. The Age of seizure onset and diagnosis of epilepsy was earlier in delayed group (5.6:2.2 years, P<0.001; 7.0:3.2 years, P<0.001). The proportion of Cesarean section and preterm delivery were also higher in delayed group (25%:52%, P= 0.010; 6%:29%, P<0.001). Abnormal MRI findings were more frequent in the delayed group (19%:86%, P<0.001). EEG at diagnosis showed no difference in epileptiform discharges, but background abnormality was more common in the delayed group (15%:81%, P<0.001). EEG at 1 year after the diagnosis showed both epileptiform discharges and background abnormality were more frequent in the delayed group (60%:90%, P=0.004; 14%:67%, P<0.001). CONCLUSION: Based on the result of this study, we strongly recommended that we should take a history of the timing of independent walking in children and adolescents with epilepsy.

Clinical Characteristics of Pediatric Bacterial Meningitis Complicated with Subdural effusion

PURPOSE: Authors aim to examine the clinical characteristics and relevant factors of the bacterial meningitis with the complication of subdural effusion. METHODS: We identified the 63 children with bacterial meningitis from 2006 to 2011. Thirteen children (group A) had a complication of subdural effusion during the treatment and 50 children (group B) did not. We reviewed their medical records retrospectively regarding demographic profiles, clinical features and laboratory findings. RESULTS: The mean age was younger in group A than in group B (4.9+/-10.1 vs 27.2+/-46.5 months, P=0.046). Of the initial symptoms, fever was the most frequent symptom, while seizures (30.8% vs 8.0%, P=0.028) and lethargy (38.5% vs 16.0%, P=0.070) were more common in group A. Since the antibiotics medication, the duration of vomiting (2.5+/-1.5 vs 1.1+/- 0.3 days, P=0.003) and irritability (2.5+/-1.5 vs 1.1+/-0.3 days, P=0.034) was longer in group A. Initial laboratory findings were significantly different between two groups with elevation of CRP (9.4+/-8.6 vs 4.1+/-6.6 mg/dL, P=0.010), CSF neutrophil ratio (71.2+/-16.4 vs 54.1+/-33.4%, P=0.041), and CSF protein (260.2+/-192.5 vs 119.9+/-148.5 mg/dL, P=0.003) in group A. Follow-up examination showed that CRP (9.3+/-10.4 vs 2.7+/-5.5 mg/dL, P=0.011), CSF cell count (670.6+/-1,014.0 vs 123.5+/-243.8 /mm3, P=0.006), and CSF protein (211.5+/-148.3 vs 82.1+/-85.8 mg/dL, P=0.002) were significantly higher in group A. CONCLUSION: Some significantly different results were shown in the comparison of initial symptoms and their durations and laboratory findings between the patients with subdural effusion following bacterial meningitis and those without subdural effusion.

Clinical Features of Infectious Ileocecitis in Children / 대한소아소화기영양학회지

PURPOSE: Infectious ileocecitis is an infection confined to the ileocecal area and one of the most common causes of pediatric abdominal pain. This study was performed to demonstrate the clinical features of infectious ileocecitis in children. METHODS: The medical records and radiologic findings of 37 patients with ileocecitis diagnosed by ultrasonography and/or computed tomography, who were admitted to Pusan National University Hospital from January 2004 and July 2008, were reviewed retrospectively. Viral gastroenteritis and secondary ileocecitis were excluded. RESULTS: The mean age of the patients was 4.8+/-3.4 years. One-half of the patients were preschool children. The chief complaint was abdominal pain (75.7%), diarrhea (10.8%), and vomiting (8.1%). Accompanying symptoms were fever (56.8%), vomiting (21.6%), and diarrhea (16.2%). The mean duration of abdominal pain, fever, diarrhea, and vomiting was 3.8+/-2.1, 3.0+/-1.9, 3.4+/-1.9, and 2.4+/-2.3 days, respectively. The frequency of diarrhea and vomiting was 5.8+/-2.2 and 4.0+/-2.8 per day, respectively. Diagnosis was made by abdominal ultrasonography in 22 patients (59.5%), abdominal CT in 2 patients (5.4%), and both modalities in 13 patients (35.1%). Besides the radiologic finding of thickening of the bowel wall, mesenteric lymphadenitis (59.5%), ascites (5.4%), and both mesenteric lymphadenitis and ascites (16.2%) were revealed. The mean duration of illness was 7.5+/-5.0 days. There were no specific laboratory findings, and culture studies with stool or blood were negative. All of the patients recovered completely without specific treatment. CONCLUSION: Infectious ileocecitis has acute appendicitis-mimicking symptoms, but is self-limited within a few days, thus unnecessary treatment and work-up is avoided. However, distinguishing infectious ileocecitis from appendicitis, inflammatory bowel disease, and mesenteric lymphadenitis is important.

Effect of Lamivudine Treatment on Chronic Hepatitis B Infection in Children Unresponsive to Interferon / 대한소아소화기영양학회지

PURPOSE: Interferon is a widely used treatment for chronic hepatitis B in children. However, additional treatment options are needed because more than 50% of hepatitis B patients are unresponsive to interferon. Although lamivudine is widely used to treat hepatitis B, there are few studies on the effect of lamivudine in hepatitis B patients unresponsive to interferon. METHODS: Eight interferon unresponsive patients (6 males and 2 females) were treated with lamivudine (3 mg/kg/day, maximum 100 mg/day) from 6~12 months after interferon treatment was discontinued among 33 children with chronic hepatitis B. They were treated with interferon (interferon alpha-2b, 10 MU/m2 or pegylated interferon 1.5 microgram/kg) for 6 months from January 2000 to December 2007 at the Pusan National University Hospital. The medical records were analyzed retrospectively. RESULTS: The age at treatment with interferon and lamivudine was 4.9+/-3.1 and 6.1+/-3.2 years, respectively. The serum ALT level before treatment with interferon was 148.1+/-105.8 IU/L and the log HBV-DNA PCR mean value was 6.95+/-0.70 copies/mL. The serum ALT level after treatment with interferon was 143.1+/-90.4 IU/L and the log HBV-DNA mean PCR value was 6.46+/-2.08. HBeAg negativization occurred in 2 patients. For all patients, normalization of the serum ALT levels and HBeAg seroconversion (except 2 patients with HBeAg negativization) occurred at 7.4+/-2.1 and 7.9+/-2.1 months respectively after lamivudine treatment. The HBV-DNA PCR became negative in 7 patients (87.5%) at 2.4+/-2.8 months. Complete response was achieved in 7 patients and no recurrence was observed in 2 patients for 3 years after the completion of treatment. Five patients are still under treatment for a mean treatment duration of 24.4+/-9.1 months. In one patient, viral breakthrough occurred and the treatment was stopped. CONCLUSION: The number of patients was small, however, lamivudine treatment in patients with chronic hepatitis B who were unresponsive to interferon was highly effective.