Neonatal Hemolytic Disease Caused by Anti-e and Anti-C Antibodies Treated with Intensive Phototherapy: A Case Report

ABO and Rh incompatibility are the leading causes of hemolytic disease of the fetus and newborn (HFDN). Due to the high antigenicity of the D antigen, hemolysis and symptoms progress rapidly. However, minor blood group incompatibility manifests varying clinical symptoms, from asymptomatic cases to neonatal jaundice and fetal hydrops. This study presents a case of HFDN in which anti-C and anti-e antibodies were identified and treated with intensive phototherapy. A full-term infant weighing 3,100 g at birth, with no complications during delivery, presented with jaundice and was admitted for intensive phototherapy. Antibody testing detected anti-C and anti-e antibodies in the neonate and the mother. The patient responded well to phototherapy, and intravenous immunoglobulin was administered. The total bilirubin levels decreased, and the infant was discharged after 5 days. At the age of 12 months, the infant exhibited normal neurodevelopment. In conclusion, neonates with HFDN, due to rare minor blood incompatibility, specifically anti-C and anti-e antibodies, can mitigate hyperbilirubinemia using phototherapy. Future research should also consider the severity of the minor blood group incompatibility.

Effect of Oxcarbazepine on Language Function in Patients With Newly Diagnosed Pediatric Epilepsy

Background@#and Purpose This study aimed to determine the effects of oxcarbazepine (OXC) on the language function of patients with pediatric epilepsy. @*Methods@#We assessed the language abilities of patients aged 5–17 years with newly diagnosed focal epilepsy and the same number of age-matched healthy children using the Test of Problem Solving (TOPS) and the Receptive and Expressive Vocabulary Test–Receptive (REVT-R). The Mean Length of Utterance–words (MLU-w) was used to estimate linguistic productivity before and after OXC initiation. All patients received OXC monotherapy with a starting dosage of 10 mg/kg/day for 1 week, which in some cases was increased to 30 mg/kg/ day (or 1,200 mg/day). @*Results@#The study finally included 41 pediatric patients (22 males and 19 females; age 9.9±3.0 years, mean±standard deviation). All language parameters of the TOPS improved significantly after initiating OXC (determining cause, 12.5±4.8–13.7±4.1 [p=0.016]; making inference, 15.6±5.6–17.4±6.4 [p<0.001]; and predicting, 9.8±5.0–11.6±4.5 [p=0.001]). However, patients who received OXC did not exhibit a significantly extended MLU-w (determining cause, p=0.493; making inference, p=0.386; and predicting, p=0.341). Receptive language scores also significantly increased after taking OXC (REVT-R: 121.0±43.1–129.4±43.8, p=0.002), but the percentage of development age to chronological age did not vary (REVT-developmental quotient: p=0.075). @*Conclusions@#Our results suggest that OXC is safe and preserves language function in patients with pediatric epilepsy.

Fludrocortisone in Pediatric Vasovagal Syncope: A Retrospective, Single-Center Observational Study

Background@#and Purpose The purpose of this study was to determine the effect of fludrocortisone in patients with pediatric vasovagal syncope (VVS). @*Methods@#This retrospective observational single-tertiary-center study based on chart reviews included 74 patients who were newly diagnosed with VVS in the head-up tilt-table test (HUTT). Some of the patients had been treated with fludrocortisone. All patients were assessed using a brain and cardiac workup before treatment to rule out the syncope being due to other causes, which resulted in seven of them being excluded: two for epilepsy and five for brain pathologies. The remaining 67 patients were analyzed. The effect of fludrocortisone was evaluated based on the results of a follow-up HUTT, with a response to the treatment considered to be present if there was a negative change at the follow-up HUTT. Univariate logistic regression were used for statistical analyses, with the criterion for significance being p<0.05. @*Results@#There were no significant differences in the characteristic of the patients between the no-medication (n=39) and fludrocortisone (n=28) groups, including age, sex, and duration of treatment. The recurrence rate of syncopal or presyncopal events was significantly lower in the fludrocortisone group (39.3%, 11 of 28) than in the no-medication group (64.1%, 25 of 39) (p=0.044), as was the rate of negative change at the follow-up HUTT: 57.1% (16 of 28) and 28.2% (11 of 39), respectively (p=0.017). @*Conclusions@#Our findings suggest that fludrocortisone is more effective than no medication in pediatric patients with VVS.

Clinical characteristics of the respiratory virus in children with febrile convulsion

Objective@#This study aimed to clarify the relationship between several viral infections and clinical features of febrile seizures. The clinical expression pattern was determined according to the virus. @*Methods@#Data were collected on patients who visited the emergency room with febrile seizures from March 2016 to February 2019. The clinical characteristics of seizures and the clinical differences between each respiratory viral infection were analyzed. The severity of febrile seizures was measured by checking complex febrile seizures and electroencephalogram abnormalities. @*Results@#Of the 227 febrile convulsions, 138 (60.8%) were men, and 89 (39.2%) were women. Sixty-five patients (28.6%) had a family history of febrile seizure, 68 (30.0%) had complex seizures, and 13 (7.1%) had electroencephalogram (EEG) abnormalities. Of the 13 respiratory viruses examined, rhinoviruses were detected more significantly in 63 patients (32.4%), but there was no significant difference when comparing the rate of febrile seizure among patients with fever. There were no significant differences in the clinical features, such as body temperature, duration, and complex seizure. In addition, each virus showed a similar incidence of EEG abnormalities. @*Conclusion@#No significant difference in the clinical features and objective examination according to the virus were observed, and the tendency of developing febrile seizures is similar.

A case of diabetic ketoacidosis with posterior cerebral artery territory ischemic stroke mimicking uncal herniation

In diabetic ketoacidosis, hyperglycemia and ketosis result in cerebral vasculitis, which can cause cerebral edema and thrombosis. A previously healthy, 12-year-old girl visited the emergency department with a history of vomiting, polydipsia, polyuria, decreased mentality, and a 7 kg (12%) weight loss within 1 week. She showed laboratory features of severe diabetic ketoacidosis, stuporous mentality, respiratory failure, and unilateral fixed mydriasis with contralateral hemiparesis. However, brain magnetic resonance imaging showed multifocal ischemic stroke mainly involving the left posterior cerebral artery territory, instead of uncal herniation. This case highlights the possible occurrence of ischemic stroke in children with early-stage diabetes mellitus.

Sporadic Cleidocranial Dysplasia in a Newborn: A 4-Year Follow-up Study

Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplastic disease associated with mutations in the gene encoding the Runt-related transcription factor 2 (RUNX2). CCD is characterized by hypoplastic clavicles and patent cranial sutures. Management is essential to prevent complications during growth of the patient. Herein, we report a sporadic case of an infant with hypoplastic skull and clavicles at birth, which correlated with clinical findings of CCD. A heterozygous mutation was identified in the RUNX2 gene, which confirmed the diagnosis of CCD.

Clinical characteristics of the respiratory virus in children with febrile convulsion

Objective@#This study aimed to clarify the relationship between several viral infections and clinical features of febrile seizures. The clinical expression pattern was determined according to the virus. @*Methods@#Data were collected on patients who visited the emergency room with febrile seizures from March 2016 to February 2019. The clinical characteristics of seizures and the clinical differences between each respiratory viral infection were analyzed. The severity of febrile seizures was measured by checking complex febrile seizures and electroencephalogram abnormalities. @*Results@#Of the 227 febrile convulsions, 138 (60.8%) were men, and 89 (39.2%) were women. Sixty-five patients (28.6%) had a family history of febrile seizure, 68 (30.0%) had complex seizures, and 13 (7.1%) had electroencephalogram (EEG) abnormalities. Of the 13 respiratory viruses examined, rhinoviruses were detected more significantly in 63 patients (32.4%), but there was no significant difference when comparing the rate of febrile seizure among patients with fever. There were no significant differences in the clinical features, such as body temperature, duration, and complex seizure. In addition, each virus showed a similar incidence of EEG abnormalities. @*Conclusion@#No significant difference in the clinical features and objective examination according to the virus were observed, and the tendency of developing febrile seizures is similar.

Effects of Lamotrigine on Problem-Solving Abilities in Newly Diagnosed Pediatric Patients with Epilepsy

Real-Life Effectiveness and Tolerability of Perampanel in Pediatric Patients Aged 4 Years or Older with Epilepsy: A Korean National Multicenter Study

A case of diabetic ketoacidosis with posterior cerebral artery territory ischemic stroke mimicking uncal herniation

In diabetic ketoacidosis, hyperglycemia and ketosis result in cerebral vasculitis, which can cause cerebral edema and thrombosis. A previously healthy, 12-year-old girl visited the emergency department with a history of vomiting, polydipsia, polyuria, decreased mentality, and a 7 kg (12%) weight loss within 1 week. She showed laboratory features of severe diabetic ketoacidosis, stuporous mentality, respiratory failure, and unilateral fixed mydriasis with contralateral hemiparesis. However, brain magnetic resonance imaging showed multifocal ischemic stroke mainly involving the left posterior cerebral artery territory, instead of uncal herniation. This case highlights the possible occurrence of ischemic stroke in children with early-stage diabetes mellitus.

Sporadic Cleidocranial Dysplasia in a Newborn: A 4-Year Follow-up Study

Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplastic disease associated with mutations in the gene encoding the Runt-related transcription factor 2 (RUNX2). CCD is characterized by hypoplastic clavicles and patent cranial sutures. Management is essential to prevent complications during growth of the patient. Herein, we report a sporadic case of an infant with hypoplastic skull and clavicles at birth, which correlated with clinical findings of CCD. A heterozygous mutation was identified in the RUNX2 gene, which confirmed the diagnosis of CCD.

A Comparative Analysis of Clinical Screening Test and Language Specific Test in Language Delay Children / 전남의대학술지

The aim of this study was to investigate the usefulness of a clinical screening test [the Korean Infant and Child Developmental Test (KICDT)] compared to language specific tests: the sequenced language scale for infant (SELSI) and the Preschool Receptive-Expressive language Scale (PRES) in children with delayed language development. A retrospective chart review was conducted on 615 children who visited the Department of Pediatrics at Chonbuk National University Hospital from January 2013 to December 2016. All patients were evaluated with KICDT as a clinical screening test and SELSI or PRES as a language specific test. Language Developmental Quotients (LDQs) from the KICDT were compared with the Receptive Language Quotient (RLQ) and expressive language quotient (ELQ) from the SELSI or PRES. The sensitivity, specificity and predictive values of LDQ of KICDT were calculated by comparing with SELSI/PRES. Language DQs from the KICDT were significantly correlated with the RLQ (r=0.706), ELQ (r=0.768), and total language quotient (TLQ) (r=0.766) from the SELSI/PRES (p<0.05). In cross tabulation, the patients belonging to the retardation groups in both KICDT and SELSI/PRES were 417 (67.8%). Otherwise, patients belonging to the normal group in KICDT but not in SELSI/PRES were 151 (24.6%). Sensitivity and specificity of LDQ of KICDT relative to SELSI/PRES were 72.3% and 92.2% respectively (p<0.05). Our data suggests that clinical screening tests alone, not cumbersome language specific tests, can determine language developmental delays in children.

Small bowel obstruction by water beads in a 12-month-old girl presenting with acute hyponatremia with seizure

Although foreign body ingestion is relatively common in children aged 6 months-3 years, small bowel obstruction rarely develops, and few cases require surgical interventions. We report a case of 12-month-old girl who presented to the emergency department with new-onset seizure after projectile bilious vomiting. The initial diagnosis was seizure caused by hyponatremia based on laboratory findings, plain abdominal radiograph, brain magnetic resonance imaging, and electroencephalography. Despite fluid resuscitation, clinical manifestations did not improve, and severe ileal obstruction was found on computed tomography. Emergency laparoscopy showed a foreign body (a water bead [superabsorbent polymer], 3 cm in diameter) that was subsequently removed by enterotomy. After the surgery, bilious vomiting continued, and gastrografin did not pass on fluoroscopy. The second laparoscopy showed a residual foreign body that was crushed and then removed by minimal enterotomy. She was discharged in good condition 5 days after the second surgery. This case suggests a particular danger of water beads as foreign bodies and the need for differential diagnosis of multiple foreign bodies in children with poor communication skills.

Language-Related White-Matter-Tract Deficits in Children with Benign Epilepsy with Centrotemporal Spikes: A Retrospective Study

BACKGROUND AND PURPOSE: Benign epilepsy with centrotemporal spikes (BECTS) is one of the most common pediatric epilepsies, and it generally has a good prognosis. However, recent research has indicated that the epileptic activity of BECTS can cause cognitive defects such as language, visuospatial, and auditory verbal memory deficits. This study assessed language-delivery deficits in BECTS patients using diffusion-tensor magnetic resonance imaging (DTI). METHODS: T1-weighted MRI, DTI, and language tests were conducted in 16 BECTS patients and 16 age-matched controls. DTI data were analyzed using the TRActs Constrained by Underlying Anatomy tool in FreeSurfer 5.3, and 18 major white-matter tracts were extracted, which included 4 language-related tracts: the inferior longitudinal fasciculus, superior longitudinal fasciculus-parietal terminations, superior longitudinal fasciculus-temporal terminations, and uncinate fasciculus (UNC). Language tests included the Korean version of the Receptive and Expressive Vocabulary Test, Test of Problem-Solving Abilities (TOPS), and the mean length of utterance in words. RESULTS: The BECTS group exhibited decreased mean fractional anisotropy and increased mean radial diffusivity, with significant differences in both the superior longitudinal fasciculus and the left UNC (p<0.05), which are the language-related white-matter tracts in the dual-loop model. The TOPS language test scores were significantly lower in the BECTS group than in the control group (p<0.05). CONCLUSIONS: It appears that BECTS patients can exhibit language deficits. Seizure activities of BECTS could alter DTI scalar values in the language-related white-matter tracts.

Clinical Significance of Asymmetric Minimum Intensity Projection Images of Brain Magnetic Resonance Imaging in Children

BACKGROUND AND PURPOSE: The susceptibility-weighted imaging form of brain MRI using minimum intensity projection (mIP) is useful for assessing traumatic brain injuries because it readily reveals deoxyhemoglobin or paramagnetic compounds. We investigated the efficacy of using this methodology in nontraumatic patients. METHODS: We retrospectively analyzed the asymmetric mIP findings in nontraumatic patients. Asymmetric mIP images were first verified visually and then using ImageJ software. We enrolled patients with a difference of >5% between hemispheres in ImageJ analysis. All patients underwent detailed history-taking and EEG, and asymmetric mIP findings were compared. RESULTS: The visual analysis identified 54 pediatric patients (37 males and 17 females) with asymmetric mIP findings. Ten patients were excluded because they did not meet the ImageJ verification criteria. The 44 patients with asymmetry comprised 36 with epilepsy, 6 with headache, and 2 with cerebral infarction. Thirty-one of the 36 epileptic patients showed definite partial seizure activities in semiology, while the remaining patients did not demonstrate a history of partial seizure manifestations. The MRI findings were normal in all patients except for five with periventricular leukomalacia unrelated to seizure symptoms. There was agreement between mIP images and semiology in 29 (93.5%) of the 31 epileptic patients with focal signs, while the other 2 demonstrated discordance. Twenty (64.5%) of the 31 patients showed consistent EEG abnormalities. CONCLUSIONS: Our data suggest that asymmetric mIP findings are an excellent lateralizing indicator in pediatric patients with partial epilepsy.

Effects of Antiepileptic Drugs on Language Abilities in Benign Epilepsy of Childhood with Centrotemporal Spikes

BACKGROUND AND PURPOSE: This study is to assess the responsiveness of electroencephalography (EEG) abnormalities and their effects on language ability after initiating different types of antiepileptic therapy in children with newly diagnosed benign epilepsy of childhood with centrotemporal spikes (BECTS). METHODS: The records of patients newly diagnosed with BECTS (n=120; 69 males) were reviewed retrospectively. The patients were randomly treated with lamotrigine, oxcarbazepine, or topiramate monotherapy, and underwent at least two EEG and standardized language tests. Effects were compared using Pearson’s chi-square tests and paired t-tests. RESULTS: The recurrence rates for seizures in the lamotrigine, topiramate, and oxcarbazepine groups were 19.4%, 21.7%, and 11.4%, respectively, while complete or partial recovery (as indicated by EEG) occurred in 32%, 39%, and 16% of the patients. Patients in the lamotrigine group showed significant improvements in all parameters assessed by the Test of Language Problem Solving Abilities, except for ‘determining cause.’ Patients in the oxcarbazepine group also showed improvements, except for ‘making inferences’ (p < 0.05). Most linguistic index scores were worse in the topiramate group except for Mean Length of Utterance in Words. Patients in the lamotrigine and oxcarbazepine groups showed significant improvements in the receptive language test (p < 0.05). EEG improvements were not related to language ability. CONCLUSIONS: The improvements in language and problem-solving performance in children with BECTS were greater for lamotrigine and oxcarbazepine than for topiramate. However, EEG remission did not imply that language function would be improved after the treatments.

The clinical characteristics and prognosis of subgaleal hemorrhage in newborn / 소아과

PURPOSE: Subgaleal hemorrhage (SGH) is a rare but potentially fatal condition in newborns; however, few studies have reported on this condition. We aimed to identify the clinical characteristics and prognostic factors of SGH. METHODS: We retrospectively reviewed the medical records of 20 neonates diagnosed with SGH between January 2000 and June 2017. Enrolled neonates were clinically diagnosed when they had tender fluctuant scalp swelling that crossed the suture lines. RESULTS: Among 20 neonates with SGH, 12 were boys and 7 were girls; median hospitalization duration was 9.7±6.9 days. Fourteen neonates (70%) were born via vacuum-assisted vaginal delivery, and 4 via vacuum-assisted cesarean section. Of the neonates enrolled, half of them initially showed unstable vital signs, including apnea, desaturation, and cyanosis. Ten neonates had acidosis and 3 had asphyxia (pH < 7.0). Intracranial lesions associated with SGH were observed in 15 neonates (75%), including subdural hemorrhage (50%), subarachnoid hemorrhage (15%), intraventricular hemorrhage (5%), cerebral infarct (15%), skull fracture (30%), and cephalohematoma (20%). Twelve neonates (60%) required transfusion, 5 (25%) had seizures, and 3 (15%) died. Eight neonates (40%) had hyperbilirubinemia (mean total bilirubin, 13.1±7.4). The mean follow-up period was 8.4±7.5 months. At follow-up, 10 neonates (58.8%) were healthy with normal development, whereas 7 (41.2%) had neurological deficits. CONCLUSION: The morbidity rate was 41.2% due to severe metabolic acidosis. Anemia, hyperbilirubinemia, low Apgar scores, and subdural hemorrhage did not affect the prognosis. The long-term outcomes of neonates with SGH are generally good. Only arterial blood pH was significantly associated with death.

A Case Report of Precocious Puberty in Children Associated with Hypothalamic Hamartoma in Neurofibromatosis Type 1 / 대한소아신경학회지

Neurofibromatosis type 1 (NF1) is a common neurocutaneous syndrome that presents with multiple café-au-lait spots, skinfold freckling, dermatofibromas, neurofibromas, and Lisch nodules. Mutations of the NF1 gene, encoding the protein neurofibromin, have been identified as the cause of this disease. NF1 can also present with precocious puberty and be associated with optic pathway tumors. Hypothalamic hamartoma as the cause of precocious puberty in patients with NF1 has been rarely described in the literature. Here, we report the findings for a patient with NF1 and precocious puberty associated with a hypothalamic hamartoma who had a newly discovered 14-bp deletion mutation in exon 5 of NF1. To our knowledge, this is the first time this combination is reported in the literature.

Effects of lamotrigine on attention-deficit hyperactivity disorder in pediatric epilepsy patients / 소아과

PURPOSE: The purpose of this study was to investigate the effects of lamotrigine for the treatment of attention-deficit hyperactivity disorder (ADHD) symptoms in children with epilepsy. METHODS: Pediatric patients newly diagnosed with epilepsy (n=90 [61 boys and 29 girls]; mean age, 9.1±3.4 years) were enrolled. All patients were evaluated with the Korean ADHD rating scale (K-ARS)-IV before treatment with lamotrigine and after doses had been administered. The mean interval of ADHD testing was approximately 12.3 months. The initial dosage of lamotrigine was 1 mg/kg/day (maximum 25 mg/day for the first 2 weeks), and increased by 1 mg/kg every 2 weeks until titrated up to 7 mg/kg/day (or maximum 200 mg/day). RESULTS: The mean ADHD test score of the 90 subjects was 17.0±1.8 at baseline. It was slightly reduced to 15.6±1.7 after lamotrigine monotherapy (P >0.01). Prior to treatment, a total of 31 patients (34.4%) met the diagnostic criteria for ADHD according to Diagnostic and Statistical Manual of Mental Disorders, 4th Edition, Text Revision, Of these 31 patients, 27 (87.1%) had significantly improved ADHD scores with lamotrigine monotherapy (28.0±1.6 reduced to 18.1±2.6, P<0.001). Among these 27 patients, 25 (92.6%) showed normalized electroencephalogram (EEG) and 26 (96.3%) achieved total freedom from seizures within 12 months of the initiation of lamotrigine monotherapy. CONCLUSION: The results from our study show that lamotrigine had a positive effect in pediatric epilepsy patients by reducing ADHD symptoms, preventing seizures, and normalizing EEG. However, further research is required to determine whether lamotrigine is efficacious against ADHD symptoms independent of its effects on epileptic seizures.

Effects of low-dose topiramate on language function in children with migraine / 소아과

PURPOSE: This study aimed to verify the safety of low-dose topiramate on language development in pediatric patients with migraine. METHODS: Thirty newly diagnosed pediatric patients with migraine who needed topiramate were enrolled and assessed twice with standard language tests, including the Test of Language Problem Solving Abilities (TOPs), Receptive and Expressive Vocabulary Test, Urimal Test of Articulation and Phonology, and computerized speech laboratory analysis. Data were collected before treatment, and topiramate as monotherapy was sustained for at least 3 months. The mean follow-up period was 4.3±2.7 months. The mean topiramate dosage was 0.9 mg/kg/day. RESULTS: The patient's mean age was 144.1±42.3 months (male-to-female ratio, 9:21). The values of all the language parameters of the TOPs were not changed significantly after the topiramate treatment as follows: Determine cause, from 15.0±4.4 to 15.4±4.8 (P>0.05); making inference, from 17.6±5.6 to 17.5±6.6 (P>0.05); predicting, from 11.5±4.5 to 12.3±4.0 (P>0.05); and total TOPs score, from 44.1± 13.4 to 45.3±13.6 (P>0.05). The total mean length of utterance in words during the test decreased from 44.1±13.4 to 45.3±13.6 (P0.05). In the articulation and phonology validation in both groups, speech pitch and energy were not significant, and all the vowel test results showed no other significant values. CONCLUSION: No significant difference was found in the language-speaking ability between the patients; however, the number of vocabularies used decreased. Therefore, topiramate should be used cautiously for children with migraine.