PURPOSE: The aims of this study were to verify the incidence of hypohidrosis and to determine the predictive value of noninvasive indicator test (Neurocheck(TM)) for sweating after administration of topiramate in newly diagnosed pediatric epileptic patients. METHODS: A total of 46 epileptic patients (22 boys; 24 girls) on topiramate treatment were evaluated in this study at the Department of Pediatrics, Chonbuk National University Hospital, from October 2004 to July 2005. We measured sweating functions using a noninvasive sweating test (Neurocheck(TM)) before topiramate medication, and after 3 months when topiramate reached its target dosage. We performed a direct questionnaire survey for the hypohidrosis related symptoms during topiramate treatment. RESULTS: The mean age was 7.8+/-3.2 year. The mean dosage of topiramate was 4.5+/-0.8 mg/kg/day. Among the patients, there were 40 complex partial seizures, one simple partial seizure, two partial seizures with secondarily generalization, two generalized seizures, and one Lennox-Gastaut syndrome case. Of the 46 epileptic patients, 17 patients (37.0 percent) experienced hypohidrosis and hypohidrosis related symptoms, 12 (26.1 percent) had facial flushing, four (8.7 percent) had heat intolerance, one (2.2 percent) had lethargy, but no one had anhidrosis. Among the 17 patients, the mild group numbered 12 and the severe group totalled five. Hypohidrosis by Neurocheck(TM) was diagnosed in 16 patients. The overall measures of agreement between Neurocheck(TM) and the survey was 76.5 percent. The specificity of this test was 89.7 percent. Patients who showed a time delay after medication, especially over 3 minutes, were seen only in the severe group. CONCLUSION: Neurocheck(TM) could be clinically useful to detect and predict topiramate induced hypohidrosis in pediatric epileptic patients. We recommend that patients who show a delay over 3 minutes in Neurocheck(TM) test after topiramate initiation should be monitored for hypohydrosis.
Cobalt* ; Flushing ; Generalization (Psychology) ; Hot Temperature ; Humans ; Hypohidrosis* ; Incidence ; Jeollabuk-do ; Lethargy ; Pediatrics ; Surveys and Questionnaires ; Seizures ; Sensitivity and Specificity ; Sweat ; Sweating

PURPOSE: Encephalitis is a cranial nervous system infection that is caused by various etiologies. Most of the patients with encephalitis undergo severe or fatal clinical course with sequelae. This study was conducted to estimate the clinical outcomes and to evaluate factors which can be used to predict clinical outcomes among pediatric patients with encephalitis METHODS: We retrospectively reviewed 46 patients with encephalitis who were admitted to the Department of Pediatrics of Chonbuk National University Hospital, from July 1995 to July 2003. Encephalitis was diagnosed based on the presence of neurologic abnormalities, CSF, Brain CT or MRI findings. Information on sequelae was obtained in the outpatient clinic. RESULTS: In this study, five patients(11.6%) were expired, 17 patients(39.5%) developed neurologic sequelaes and 21 patients(46.5%) were recovered without sequelae. Infants had poorer outcomes compared to older age groups. Twenty nine cases who had seizures showed high morbidity rate(48.3%) compared to the seizure-free group(17.6%). Among six patients with status epilepticus, four(66.7%) developed neurologic sequelae and two(33.3%) expired. The group with normal brain MRI findings had better outcomes (70%) than the group with abnormal MRI findings(55.5%). Gray matter involved patients on MRI had poorer recovery rate(33.3%) than white matter involved patients(69.2%). The group treated with intravenous immunoglobulin(IVIG) had better outcomes(64.7%) than the other group(37.9%). CONCLUSION: The presence of seizure, younger patients, and presence of abnormal findings of brain MRI, especially gray matter lesions were associated with poor clinical outcomes in children with encephalitis.
Ambulatory Care Facilities ; Brain ; Child ; Encephalitis ; Encephalitis, Viral* ; Humans ; Infant ; Jeollabuk-do ; Magnetic Resonance Imaging ; Nervous System ; Pediatrics ; Retrospective Studies ; Seizures ; Status Epilepticus

Alzheimer’s disease (AD) is the most common cause of neurodegeneration. It is characterized by deposits of amyloid beta (Aβ) plaques and impaired memory. Microglia are associated with AD. They are activated in the AD brain and AD models. However, the exact role of microglia has not been established. We thus investigated the role of microglia in AD models using a primary culture and an ex-vivo assay. We showed that oligomerized Aβ is toxic to neurons in the primary culture. In the ex-vivo assay, a microglial cell line removed amyloid plaques in the brain of 5XFAD (AD model) mice. To verify if microglia can be protective for the neuron, we co-cultured neurons with primary microglia and treated them with Aβ. The loss of neurons, induced by amyloid toxicity, was attenuated by co-cultured microglia. Taken together, our data suggest that microglia promote neuronal survival by phagocytic clearance of Aβ in AD models.

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.
Adolescent ; Child* ; Exons ; Genes, Neurofibromatosis 1 ; Hamartoma* ; Histiocytoma, Benign Fibrous ; Humans ; Hypothalamic Diseases ; Neurocutaneous Syndromes ; Neurofibroma ; Neurofibromatoses* ; Neurofibromatosis 1* ; Neurofibromin 1 ; Puberty ; Puberty, Precocious* ; Sequence Deletion

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.
Acidosis ; Anemia ; Apnea ; Asphyxia ; Bilirubin ; Cesarean Section ; Cyanosis ; Female ; Follow-Up Studies ; Hematoma, Subdural ; Hemorrhage* ; Hospitalization ; Humans ; Hydrogen-Ion Concentration ; Hyperbilirubinemia ; Infant, Newborn* ; Medical Records ; Pregnancy ; Prognosis* ; Retrospective Studies ; Scalp ; Seizures ; Skull Fractures ; Subarachnoid Hemorrhage ; Sutures ; Vacuum Extraction, Obstetrical ; Vital Signs

BACKGROUND: AND PURPOSE: This study aimed to determine the effects of lamotrigine (LTG) on language unction, including problem-solving abilities, in newly diagnosed pediatric epileptic patients. METHODS: This study included 112 newly diagnosed epileptic patients treated with LTG [69 males and 43 females aged 9.6±2.7 years (mean±SD)]. Repeated neurologic examinations, electroencephalography, neuroimaging studies, and standard language tests including the Test of Problem Solving (TOPS), mean length of utterance in words (MLU-w), Receptive and Expressive Vocabulary Test (REVT), and Urimal Test of Articulation and Phonology were performed before and after initiating LTG treatment. The starting LTG dosage was 1 mg/kg/day (maximum: 25 mg/day) for the first 14 days, which was increased to 2 mg/kg/day for the subsequent 14 days and then up to 7 mg/kg/day (or 200 mg/day) for maintenance. RESULTS: Problem-solving skills as assessed by TOPS scores significantly improved after initiating LTG treatment (33.5±14.5 vs. 35.7±14.25, p < 0.01). Scores in the “determining causes” category (11.9±4.7 vs. 12.9±4.8, p < 0.01), “making inferences” category (12.9±6.2 vs. 13.6±6.0, p < 0.05), and “predicting” category (8.9±5.4 vs. 9.7±5.6, p < 0.01) significantly improved after LTG treatment. The MLU-w score did not decrease after LTG treatment (4.7±1.9 vs. 5.0±2.1). There was a significant improvement in receptive language function as assessed using the REVT score (9.4±3.4 years vs. 9.9±3.3 years, p < 0.01). Precise articulation also improved after initiating LTG treatment (97.8% vs. 98.5%). CONCLUSIONS Language function including problem-solving skills improved after LTG treatment, suggesting that LTG can be administered without causing significant negative effects on language function in pediatric patients.

This report describes the long-term follow-up of a 10-year-old female patient with Joubert syndrome with short stature and brachydactyly. She presented with hyperpnea alternated with hypopnea, uncontrolled jerking eye movements, and hypotonia during early infancy. She was diagnosed with Joubert syndrome based on clinical symptoms and typical MRI findings at 5 months of age. Abnormal ventilation and eye movements disappeared at around 4 years of age. Head circumference kept within normal range for her age, but her height and weight growth were markedly retarded. Simple X-ray showed an enlarged skull with increased digital markings, hypoplasia of facial bones, and abnormal enchondral bone formations in hands and feet. This article is the first report of Joubert syndrome with peripheral dysostosis.
Brachydactyly ; Child ; Dysostoses* ; Eye Movements ; Facial Bones ; Female ; Follow-Up Studies* ; Foot ; Hand ; Head ; Humans ; Magnetic Resonance Imaging ; Muscle Hypotonia ; Reference Values ; Skull ; Ventilation

PURPOSE: The objective of this study is to investige the clinical features, natural histories, and results of medical and surgical treatment of NMD in patients who were diagnosed during childhood. METHODS: We performed a retrospective analysis of medical records of 57 patients with NMD who were newly diagnosed by MRI or pathologically in epilepsy children since March 1993 to June 2000. RESULTS: These 57 patients with NMD consisted of 26 with cortical dysplasia, 9 with lissencephaly, 7 with polymicrogyria, 6 with schizencephaly, 4 with hemimegalencephaly, 3 with heterotopias, and 2 with double cortex. Clinically, 94.7% of these patients showed seizures, 33.3% with developmental delay, 21.1% mental retardation, 15.8% cerebral palsy, and 7.0% attention deficit hyperactivity disorder. Their response to antiepileptic drugs was good to 31 patients (75.6%), moderate to 3 (7.3%), and poor to 7 (17.1%). Twelve patients were completely seizure-free after receiving medication for at least 15 months. Seventeen patients tolerated with monotherapy with antiepileptic drugs. Fourteen patients underwent surgical resection. The results of operation were highly correlated with the complete removal of epileptic focus. Six patients who underwent complete resection were seizure-free after operation. On the other hand, Eight patients who had incomplete resection of the epileptic focus showed poor outcome. CONCLUSION: Most of previous reports suggested that NMD is associated with refractory to medical treatments, and early surgical operation has been recommended. Our study demonstrates remarkably good responses of NMD patients with medical treatment only.
Anticonvulsants ; Attention Deficit Disorder with Hyperactivity ; Cerebral Palsy ; Child* ; Epilepsy ; Hand ; Humans ; Intellectual Disability ; Lissencephaly ; Magnetic Resonance Imaging ; Malformations of Cortical Development ; Medical Records ; Neuronal Migration Disorders* ; Neurons* ; Retrospective Studies ; Seizures

PURPOSE: This study aims to evaluate the efficacy and safety of sedatives for pediatric patients using noninvasive procedures. METHODS: We performed a prospective study in 446 (aged 1 month-21 y) consecutive pediatric patients undergoing sedation to study noninvasive sedation techniques from February to August 2007. We reviewed demographic data, sedative drugs, dosage, complications, and successful rates of sedation according to the underlying diseases. RESULTS: The overall successful rate of sedation was 435/446 (97.5%). The overall rate of successful sedation using chloral hydrate was 99.1% (420/424), and was 70.6% (12/17) and 60.0% (3/5) with ketamine and midazolam, respectively. Of the neurologic patients (n=172, aged 1 month to 21 years), 136 patients were sedated for EEGs, 5 patients for renal scans, and 31 patients for neuroimaging studies such as brain CT or MRI. All non-neurological patients (n=274, aged 1 month to 5 years) were diagnosed with urinary tract infection and sedated for renal scan. The overall success rate of sedation for this group was 99.6%(273/274). Atotal of 14 adverse events were observed (3.1%). Most adverse reactions were mild in severity and clinically insignificant. CONCLUSION: Using chloral hydrate alone has enough effect to sedate non-neurologic patients. However, neurologic patients in the severe course group, especially those suffering from intractable epilepsy, autism, or severe cerebral palsy, must be medicated with chloral hydrate 2 times at most; instead, injections of ketamine or midazolam in the early stage may result in a more promising outcome.
Aged ; Autistic Disorder ; Brain ; Cerebral Palsy ; Child ; Chloral Hydrate ; Conscious Sedation ; Electroencephalography ; Epilepsy ; Humans ; Hypnotics and Sedatives ; Ketamine ; Midazolam ; Neuroimaging ; Prospective Studies ; Stress, Psychological ; Urinary Tract Infections

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.
Brain ; Child ; Diagnosis ; Diagnosis, Differential ; Diatrizoate Meglumine ; Eating ; Electroencephalography ; Emergencies ; Emergency Service, Hospital ; Female ; Fluoroscopy ; Foreign Bodies ; Humans ; Hyponatremia ; Infant ; Intestinal Obstruction ; Laparoscopy ; Magnetic Resonance Imaging ; Resuscitation ; Seizures ; Vomiting ; Water