Development of the Parental Questionnaire for Cerebral Visual Impairment in Children Younger than 72 Months

Background@#and Purpose: Cerebral visual impairment (CVI) is an underdiagnosed condition in children, and its assessment tools have focused on older children. We aimed to develop a parental questionnaire for cerebral visual impairment (PQCVI) for screening CVI in young children. @*Methods@#The PQCVI comprised 23 questions based on a modified version of Houliston and Dutton’s questionnaire for older children. The PQCVI with neurocognitive function tests was applied to 201 child–parent pairs with typically developing children younger than 72 months (age 32.4±20.1 months, mean±standard deviation). The children were classified into six age groups. The normative data, cutoff scores, and internal reliability were assessed and item analysis was performed. We referred to the total score for all questions as the cerebral visual function (CVF) score. @*Results@#The normative data showed that the CVF score and the scores corresponding to ventral-stream and dorsal-stream visual functions plausibly increased with age. The scores rapidly reached 90% of their maximum values up to the age of 36 months, after which they increased slowly. Cronbach’s alpha for all questions across all age groups was 0.97, showing excellent consistency. The item difficulty and item discrimination coefficients showed that the questions were generally adequate for this age stage. @*Conclusions@#The PQCVI items produced reliable responses in children younger than 72 months. The rapid increase in scores before the age of 3 years supports the importance of early identification of CVI. Following additional clinical verification, the PQCVI may be useful for CVI screening.

Development of the Parental Questionnaire for Cerebral Visual Impairment in Children Younger than 72 Months

Background@#and Purpose: Cerebral visual impairment (CVI) is an underdiagnosed condition in children, and its assessment tools have focused on older children. We aimed to develop a parental questionnaire for cerebral visual impairment (PQCVI) for screening CVI in young children. @*Methods@#The PQCVI comprised 23 questions based on a modified version of Houliston and Dutton’s questionnaire for older children. The PQCVI with neurocognitive function tests was applied to 201 child–parent pairs with typically developing children younger than 72 months (age 32.4±20.1 months, mean±standard deviation). The children were classified into six age groups. The normative data, cutoff scores, and internal reliability were assessed and item analysis was performed. We referred to the total score for all questions as the cerebral visual function (CVF) score. @*Results@#The normative data showed that the CVF score and the scores corresponding to ventral-stream and dorsal-stream visual functions plausibly increased with age. The scores rapidly reached 90% of their maximum values up to the age of 36 months, after which they increased slowly. Cronbach’s alpha for all questions across all age groups was 0.97, showing excellent consistency. The item difficulty and item discrimination coefficients showed that the questions were generally adequate for this age stage. @*Conclusions@#The PQCVI items produced reliable responses in children younger than 72 months. The rapid increase in scores before the age of 3 years supports the importance of early identification of CVI. Following additional clinical verification, the PQCVI may be useful for CVI screening.

Association of Low Serum Ionized Magnesium Level with Fever-Triggered Seizures in Epileptic Children / 대한소아신경학회지

PURPOSE: Several studies have shown that magnesium plays an important role in modulating N-methyl-D-aspartate (NMDA)-related seizures by blocking NMDA ion channel receptors. Clinicians usually measure total serum magnesium levels instead of biologically active ionized magnesium levels. We compared the serum ionized magnesium (iMg2+) level between epileptic children with and without a history of fever-triggered seizure (FTS). METHODS: All epileptic children who visited the outpatient clinic or pediatric emergency department at Korea University Guro Hospital between January 2015 and July 2017 were included. Only epileptic children aged 1–8 years who were newly diagnosed within 2 years were included. RESULTS: There were 12 children with FTS and 16 without FTS. Median serum iMg2+ level was 0.93 (0.85–1.14, quartile) mEq/L. Serum iMg2+ level was significantly lower in epileptic children with FTS (0.86 mEq/L) compared to those without FTS (1.10 mEq/L) (P=0.005). No difference was noted in clinical variables between the two groups. Lower serum iMg2+ level significantly increased the risk of having FTS in epileptic children based on multivariable logistic regression analysis (odds ratio [OR]=0.028). CONCLUSION: Serum iMg2+ level was significantly lower in epileptic children with FTS than in those without FTS. Measurement of biologically active serum iMg2+ level could be considered in epileptic children with recurrent FTS. A large-scale prospective study is warranted.

Usefulness of Early Neurodevelopmental Testing for High-Risk Neonates / 대한소아신경학회지

PURPOSE: To identify the significance of the 12-month developmental assessment in high-risk neonates by comparing their 12 month and later childhood development. METHODS: We retrospectively reviewed the records of high risk neonates admitted to neonatal intensive care units of Korea University Ansan Hospital for ten years. Data of 146 patients, who underwent the Bayley test at 12 months of age and retook the same test at 24–36 months, was analyzed. Changes in mental developmental index (MDI) and psychomotor developmental index (PDI) were assessed and < 85 scores of indices were defined as abnormal. RESULTS: At 12 months of age, 35 (24.0%) had normal development, 45(30.8%) had psychomotor developmental delay (MDI≥85, PDI < 85), 7(4.8%) had mental developmental delay (MDI < 85, PDI≥85), and 59(40.4%) had global delay (MDI& PDI < 85). At 24–36 months of age, 52(35.6%) had normal development, 10(6.8%) had mental delay, 16(11.0%) had psychomotor delay, and 68(46.6%) had global delay. Out of 35 patients with normal development at 12 months, 27(77.1%) showed normal development after that, and 46(78.0%) of 59 patients with global delay showed a global delay. All 7 patients who had delayed mental development at 12 months showed global delay at 24–36 months of age (P < 0.01). The 12-month development of high-risk neonates was associated with later developmental status. CONCLUSION: Considering the importance of early intervention for delayed development, the 12-month Bayley test of high-risk neonates may be useful for prediction of later developmental progress.

Characterization and Predictors of Headache-Related Disability among School Children: A Population-Based Study

PURPOSE: Headache is a frequent neurological symptom in school aged individuals and recurrent headache has significant disabling effects among children and adolescents that manifest as school absenteeism, decreased extracurricular activities, and poor academic performance, as shown in previous studies. In Korea, there has not yet been a population-based study of headache-related disability in children and adolescents. We sought to estimate headache-related disability and investigate relevant predictors of disability due to headaches among schoolchildren in South Korea. METHODS: This was a cross-sectional school-based study. We surveyed 5,039 (boys 2,405, girls 2,634) students aged 6-18 years. Among 1,465 students with headache, six hundred sixty-six schoolchildren (225 boys, 441 girls) completed all questionnaires. The questionnaires collected demographic data, in addition to headache specific questions consistent with International Classification of Headache Disorder criteria, 2nd edition. Disability was evaluated using the 6-question Pediatric Migraine Disability Assessment (PedMIDAS). RESULTS: Six hundred sixty six school children and adolescents (225 boys, 441 girls) among 1,465 students with headaches completed all questionnaires. The percentage of headache sufferers with grade I disability was 88.6%. The mean (±standard deviation) PedMIDAS score was 5.11±11.17. There was a trend towards more severe disability in the older age groups, particularly among the 16 to18 year-olds. Students with migraine had the highest PedMIDAS scores (6.69±10.66) whereas students reporting other types of headache had the lowest scores (3.81±7.52). The predictors of headache-related disability were intensity (P=0.028), frequent headache (P=0.003), and longer duration of symptoms prior to presentation (P=0.008). CONCLUSION: A trend towards a more severe disability was observed in the older age group. Schoolchildren with migraine had the most headache-related disability. The predictors for headache-related disability were intensity, frequent headache, and longer duration of symptoms prior to presentation.

Characterization and Predictors of Headache-Related Disability among School Children: A Population-Based Study

PURPOSE: Headache is a frequent neurological symptom in school aged individuals and recurrent headache has significant disabling effects among children and adolescents that manifest as school absenteeism, decreased extracurricular activities, and poor academic performance, as shown in previous studies. In Korea, there has not yet been a population-based study of headache-related disability in children and adolescents. We sought to estimate headache-related disability and investigate relevant predictors of disability due to headaches among schoolchildren in South Korea. METHODS: This was a cross-sectional school-based study. We surveyed 5,039 (boys 2,405, girls 2,634) students aged 6-18 years. Among 1,465 students with headache, six hundred sixty-six schoolchildren (225 boys, 441 girls) completed all questionnaires. The questionnaires collected demographic data, in addition to headache specific questions consistent with International Classification of Headache Disorder criteria, 2nd edition. Disability was evaluated using the 6-question Pediatric Migraine Disability Assessment (PedMIDAS). RESULTS: Six hundred sixty six school children and adolescents (225 boys, 441 girls) among 1,465 students with headaches completed all questionnaires. The percentage of headache sufferers with grade I disability was 88.6%. The mean (±standard deviation) PedMIDAS score was 5.11±11.17. There was a trend towards more severe disability in the older age groups, particularly among the 16 to18 year-olds. Students with migraine had the highest PedMIDAS scores (6.69±10.66) whereas students reporting other types of headache had the lowest scores (3.81±7.52). The predictors of headache-related disability were intensity (P=0.028), frequent headache (P=0.003), and longer duration of symptoms prior to presentation (P=0.008). CONCLUSION: A trend towards a more severe disability was observed in the older age group. Schoolchildren with migraine had the most headache-related disability. The predictors for headache-related disability were intensity, frequent headache, and longer duration of symptoms prior to presentation.

Utility of Follow-up Diffusion Tensor Imaging in Acute Hemorrhagic Leukoencephalitis: a Case Report

Acute hemorrhagic leukoencephalitis (AHLE) is an acute, rapidly progressing, fulminant demyelinating disease. It is a rare disease of the central nervous system with high mortality; survivors commonly present with significant neurological deficit. We report the case of a 16-month-old girl who survived AHLE and presented with the associated neurologic deficit. The patient came into the emergency department with febrile seizure. She showed bilateral pinpoint-sized pupils and hyperactive deep tendon reflexes. Her mental status was initially drowsy and rapidly progressed to stupor. Extensive demyelination and microbleeds were found in the cerebral white matter, thalamus and left cerebellum on Magnetic resonance imaging (MRI) scans. Her mental status was improved by intravenous administration of immunoglobulin and methylprednisolone. Five months after being discharged, increased white matter connectivity was found on color-coded follow-up MR diffusion tensor imaging (DTI) as compared to previous MRI. We therefore suggest adding the DTI technique when a follow-up MRI is performed in patients with AHLE. It could be useful to visualize the status of axonal injury and to encourage patients and their parents to continue the rehabilitation program.

Anti-N-methyl-D-aspartate Receptor (NMDAR) Encephalitis: Neuronal Burden of a Comorbid Ovarian Teratoma

Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a disease that is characterized by acute psychiatric symptoms, seizures, and central hypoventilation. Patients with anti-NMDAR encephalitis exhibit speech alterations, insomnia, seizures, and movement disorders. We describe a previously healthy 6-year-old girl who presented with seizures, disorientation, and fever. Over the five weeks of treatment, the patient exhibited progressive neurologic symptoms, including a change in mental status. Her serum and cerebrospinal fluid contained high titers of antibodies against the NMDAR, and she was diagnosed with anti-NMDAR encephalitis. She was treated with plasmapheresis, steroid pulse therapy, intravenous immunoglobulins, and repeated doses of rituximab. After the patient was diagnosed with a concomitant ovarian teratoma, a unilateral salpingo-oophorectomy was performed. A histopathologic examination revealed that neuronal elements accounted for 60% of the resected ovarian teratoma. The patient's clinical symptoms and antibody titers improved after the surgical treatment and rituximab therapy. These observations suggested that patients with high titers of anti-NMDAR antibodies should be examined for the presence and quantity of neuronal components in concurrent ovarian teratomas.

Utility of Follow-up Diffusion Tensor Imaging in Acute Hemorrhagic Leukoencephalitis: a Case Report

Acute hemorrhagic leukoencephalitis (AHLE) is an acute, rapidly progressing, fulminant demyelinating disease. It is a rare disease of the central nervous system with high mortality; survivors commonly present with significant neurological deficit. We report the case of a 16-month-old girl who survived AHLE and presented with the associated neurologic deficit. The patient came into the emergency department with febrile seizure. She showed bilateral pinpoint-sized pupils and hyperactive deep tendon reflexes. Her mental status was initially drowsy and rapidly progressed to stupor. Extensive demyelination and microbleeds were found in the cerebral white matter, thalamus and left cerebellum on Magnetic resonance imaging (MRI) scans. Her mental status was improved by intravenous administration of immunoglobulin and methylprednisolone. Five months after being discharged, increased white matter connectivity was found on color-coded follow-up MR diffusion tensor imaging (DTI) as compared to previous MRI. We therefore suggest adding the DTI technique when a follow-up MRI is performed in patients with AHLE. It could be useful to visualize the status of axonal injury and to encourage patients and their parents to continue the rehabilitation program.

Management of Alcohol Withdrawal Syndrome and Alcohol Withdrawal Seizure

Alcohol withdrawal syndrome (AWS) is a common condition occurring after intentional or unintentional abrupt cessation of alcohol in an alcohol-dependent individual. AWS represents a major problem in our society and alcohol withdrawal seizure is the major cause of seizures encountered by neurology residents in the emergency department. Patients with AWS present with mild symptoms of tremulousness and agitation or more severe symptoms including withdrawal seizures and delirium tremens. Particularly, severe AWS can produce significant rates of the morbidity (complications) and mortality. When diagnosed and managed insufficiently, the morbidity and mortality rates increase. Nevertheless, patients with AWS may be neglected and are often marginalized and the teaching about AWS to neurology residents is usually minimal. Also, attending neurologists are often poorly informed on the topic. Although there is insufficient consensus about the optimal investigation and management, the purpose of this review is to serve as a summary of the appropriate identification and management of this important condition in a neurological setting.

Childhood Idiopathic Occipital Lobe Epilepsy: Clinical Characteristics and Prognostic Factors

PURPOSE: Among syndromes of idiopathic occipital lobe epilepsy there are Panayiotopoulos syndrome (PS) and idiopathic childhood occipital epilepsy of Gastaut (ICOE-G). However, the classification of epilepsy syndrome is difficult to diagnose at the first seizure because of varying characteristics. We analyzed the different clinical characteristics and prognostic factors of idiopathic occipital lobe epilepsy. METHODS: Forty-three patients who had at least two unprovoked seizures, no abnormalities on magnetic resonance imaging, no known etiology of seizure, and mainly occipital spikes on electroencephalography were retrospectively enrolled at the Korea University Medical Center. A good prognosis was defined as being seizure-free and taking two or less drugs for 1 year. RESULTS: Among all patients, the proportion of PS was 44.2%, ICOE-G was 7.0% and unclassified group was 48.8%. The age at seizure onset was 4.5±2.6 years (mean±SD) in the PS group, and 8.3±2.1 years in the ICOE-G group. The follow-up duration was 10.8±6.0 years. The percentage that the initial diagnosis had not been changed was 66.7% in the PS group and 100% in the ICOE-G group. Among other related symptoms only emesis (P<0.001) and visual symptoms (P=0.007) had varying characteristics between the PS and ICOE-G groups. Patients with PS had a better prognosis than those with ICOE-G or unclassified group (odds ratio [OR]=58.8). Patients with 1 more autonomic symptoms had a worse prognosis (OR=3.8). CONCLUSION: This study showed that only symptoms of emesis and visual symptoms can differentiate between PS and ICOE-G. More autonomic symptoms were associated with worse prognosis in childhood occipital lobe epilepsy.

Anti-N-methyl-D-aspartate Receptor (NMDAR) Encephalitis: Neuronal Burden of a Comorbid Ovarian Teratoma

Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a disease that is characterized by acute psychiatric symptoms, seizures, and central hypoventilation. Patients with anti-NMDAR encephalitis exhibit speech alterations, insomnia, seizures, and movement disorders. We describe a previously healthy 6-year-old girl who presented with seizures, disorientation, and fever. Over the five weeks of treatment, the patient exhibited progressive neurologic symptoms, including a change in mental status. Her serum and cerebrospinal fluid contained high titers of antibodies against the NMDAR, and she was diagnosed with anti-NMDAR encephalitis. She was treated with plasmapheresis, steroid pulse therapy, intravenous immunoglobulins, and repeated doses of rituximab. After the patient was diagnosed with a concomitant ovarian teratoma, a unilateral salpingo-oophorectomy was performed. A histopathologic examination revealed that neuronal elements accounted for 60% of the resected ovarian teratoma. The patient's clinical symptoms and antibody titers improved after the surgical treatment and rituximab therapy. These observations suggested that patients with high titers of anti-NMDAR antibodies should be examined for the presence and quantity of neuronal components in concurrent ovarian teratomas.

Norovirus Associated Cerebellitis in a Previous Healthy 2-year-old Girl

Norovirus causes acute gastroenteritis, occasional afebrile seizures, and rarely encephalitis. We describe a child with cerebellitis due to norovirus that has not been reported previously. A previously healthy 2-year-old girl with a recent history of acute gastroenteritis, who presented with acute cerebellar ataxia. She exhibited marked truncal ataxia, was barely able to walk, and was prone to sitting or lying down. Multiplex PCR using stool samples revealed norovirus (genogroup II) and magnetic resonance imaging showed increased T2 signal in the hemi-cerebellum. Norovirus may be a potential pathogenic cause of acute cerebellitis in children.

Chromosome 11q13 deletion syndrome / 소아과

Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness, microtia (small ear) and small teeth, without the appearance of eye abnormalities, was also reported. In this report, we describe a 1-year-old girl presenting with ptosis of the left upper eyelid, right auricular deformity, high-arched palate, delayed dentition, simian line on the right hand, microcephaly, and developmental delay. In this patient, we identified a deletion in the chromosome 11q13.2-q13.3 (2.75 Mb) region by using an array-comparative genomic hybridization analysis. The deletion in chromosome 11q13 results in a syndrome characterized by variable clinical manifestations. Some of these manifestations involve craniofacial dysmorphology and require a functional workup for hearing, ophthalmic examinations, and long-term dental care.

Ictal sinus pause and myoclonic seizure in a child / 소아과

Ictal tachycardia and bradycardia are common arrhythmias; however, ictal sinus pause and asystole are rare. Ictal arrhythmia is mostly reported in adults with temporal lobe epilepsy. Recently, ictal arrhythmia was recognized as a major warning sign of sudden unexpected death in epilepsy. We present an interesting case of a child with ictal sinus pause and asystole. A 27-month-old girl was hospitalized due to 5 episodes of convulsions during the past 2 days. Results of routine electroencephalography (EEG) were normal, but she experienced brief generalized tonic seizure for 3 days. During video-monitored EEG and echocardiography (ECG), she showed multiple myoclonic seizures simultaneously or independently, as well as frequent sinus pauses. After treatment with valproic acid, myoclonus and generalized tonic seizures were well controlled and only 2 sinus pauses were seen on 24-hour Holter ECG monitoring. Sinus dysfunction should be recognized on EEG, and it can sometimes be treated successfully with only antiepileptic medication.

Estimating the Prevalence of Treated Epilepsy Using Administrative Health Data and Its Validity: ESSENCE Study

BACKGROUND AND PURPOSE: Few of the epidemiologic studies of epilepsy have utilized well-validated nationwide databases. We estimated the nationwide prevalence of treated epilepsy based on a comprehensive medical payment database along with diagnostic validation. METHODS: We collected data on patients prescribed of antiepileptic drugs (AEDs) from the Health Insurance Review and Assessment service, which covers the entire population of Korea. To assess the diagnostic validity, a medical records survey was conducted involving 6,774 patients prescribed AEDs from 43 institutions based on regional clusters and referral levels across the country. The prevalence of treated epilepsy was estimated by projecting the diagnostic validity on the number of patients prescribed AEDs. RESULTS: The mean positive predictive value (PPV) for epilepsy was 0.810 for those prescribed AEDs with diagnostic codes that indicate epilepsy or seizure (Diagnosis-E), while it was 0.066 for those without Diagnosis-E. The PPV tended to decrease with age in both groups, with lower values seen in females. The prevalence was 3.84 per 1,000, and it was higher among males, children, and the elderly. CONCLUSIONS: The prevalence of epilepsy in Korea was comparable to that in other East Asian countries. The diagnostic validity of administrative health data varies depending on the method of case ascertainment, age, and sex. The prescriptions of AEDs even without relevant diagnostic codes should be considered as a tracer for epilepsy.

Epilepsy in children with a history of febrile seizures / 소아과

PURPOSE: Febrile seizure, the most common type of pediatric convulsive disorder, is a benign seizure syndrome distinct from epilepsy. However, as epilepsy is also common during childhood, we aimed to identify the prognostic factors that can predict epilepsy in children with febrile seizures METHODS: The study comprised 249 children at the Korea University Ansan Hospital who presented with febrile seizures. The relationship between the subsequent occurrence of epilepsy and clinical factors including seizure and fever-related variables were analyzed by multivariate analysis. RESULTS: Twenty-five patients (10.0%) had additional afebrile seizures later and were diagnosed with epilepsy. The subsequent occurrence of epilepsy in patients with a history of febrile seizures was associated with a seizure frequency of more than 10 times during the first 2 years after seizure onset (P<0.001). Factors that were associated with subsequent occurrence of epilepsy were developmental delay (P<0.001), preterm birth (P=0.001), multiple seizures during a febrile seizure attack (P=0.005), and epileptiform discharges on electroencephalography (EEG) (P=0.008). Other factors such as the age at onset of first seizure, seizure duration, and family history of epilepsy were not associated with subsequent occurrence of epilepsy in this study. CONCLUSION: Febrile seizures are common and mostly benign. However, careful observation is needed, particularly for prediction of subsequent epileptic episodes in patients with frequent febrile seizures with known risk factors, such as developmental delay, history of preterm birth, several attacks during a febrile episode, and epileptiform discharges on EEG.

Therapeutic Outcomes and Prognostic Factors in Childhood Absence Epilepsy

BACKGROUND AND PURPOSE: Childhood absence epilepsy (CAE) is one of the most common types of pediatric epilepsy. It is generally treated with ethosuximide (ESM), valproic acid (VPA), or lamotrigine (LTG), but the efficacy and adverse effects of these drugs remain controversial. This study compared initial therapy treatment outcomes, including VPA-LTG combination, and assessed clinical factors that may predict treatment response and prognosis. METHODS: Sixty-seven patients with typical CAE were retrospectively enrolled at the Korea University Medical Center. We reviewed patients' clinical characteristics, including age of seizure onset, seizure-free interval, duration of seizure-free period, freedom from treatment failure, breakthrough seizures frequency, and electroencephalogram (EEG) findings. RESULTS: The age at seizure onset was 7.9±2.7 years (mean±SD), and follow-up duration was 4.4±3.7 years. Initially, 22 children were treated with ESM (32.8%), 23 with VPA (34.3%), 14 with LTG (20.9%), and 8 with VPA-LTG combination (11.9%). After 48 months of therapy, the rate of freedom from treatment failure was significantly higher for the VPA-LTG combination therapy than in the three monotherapy groups (p=0.012). The treatment dose administrated in the VPA-LTG combination group was less than that in the VPA and LTG monotherapy groups. The shorter interval to loss of 3-Hz spike-and-wave complexes and the presence of occipital intermittent rhythmic delta activity on EEG were significant factors predicting good treatment response. CONCLUSIONS: This study showed that low-dose VPA-LTG combination therapy has a good efficacy and fewer side effects than other treatments, and it should thus be considered as a firstline therapy in absence epilepsy.

Neonatal invasive Streptococcus gallolyticus subsp. pasteurianus infection with delayed central nervous system complications / 소아과

Group D streptococci are known to cause newborn septicemia and meningitis, but the Streptococcus bovis group strains rarely cause serious neonatal infections in Korea. Central nervous system (CNS) complications of neonatal S. bovis group infection have rarely been reported. In adults, S. bovis group strains cause bacteremia and endocarditis, and are associated with gastrointestinal malignancy. However, only a few studies have reported meningitis and septicemia in infants. Here, we describe a case of bacteremia and meningitis due to Streptococcus gallolyticus subsp. pasteurianus with a delayed CNS complication in an infant. A 28-day-old male infant was admitted to the hospital with a 1-day history of fever. Cultures of blood, cerebrospinal fluid, and urine showed the presence of S. bovis group strain-S. gallolyticus subsp. pasteurianus. He was discharged after 21 days of intravenous ampicillin and cefotaxime administration. Two weeks later, he was readmitted with a fever and short episodes of tonic-clonic movements. Brain magnetic resonance imaging showed marked bilateral frontal subdural effusion. He was discharged after 31 days of antibiotic therapy, and no neurological sequelae were observed at the 9-month follow-up. In conclusion, we present a rare case of neonatal S. gallolyticus subsp. pasteurianus infection causing urinary tract infection, septicemia, meningitis, and delayed CNS complications. This case emphasizes the need for physicians to be aware of S. bovis infection in infants.

Metabolic evaluation of children with global developmental delay / 소아과

Global developmental delay (GDD) is a relatively common early-onset chronic neurological condition, which may have prenatal, perinatal, postnatal, or undetermined causes. Family history, physical and neurological examinations, and detailed history of environmental risk factors might suggest a specific disease. However, diagnostic laboratory tests, brain imaging, and other evidence-based evaluations are necessary in most cases to elucidate the causes. Diagnosis of GDD has recently improved because of remarkable advances in genetic technology, but this is an exhaustive and expensive evaluation that may not lead to therapeutic benefits in the majority of GDD patients. Inborn metabolic errors are one of the main targets for the treatment of GDD, although only a small proportion of GDD patients have this type of error. Nevertheless, diagnosis is often challenging because the phenotypes of many genetic or metabolic diseases often overlap, and their clinical spectra are much broader than currently known. Appropriate and cost-effective strategies including up-to-date information for the early identification of the "treatable" causes of GDD are needed for the development of well-timed therapeutic applications with the potential to improve neurodevelopmental outcomes.