Journal Detail Information

1

Cite

Share

Hand Foot Mouth Disease with Meningomyeloencephalitis Caused by Enterovirus 71.

Journal of the Korean Child Neurology Society.2011;19(2):169-175.

Hand-foot-and-mouth disease (HFMD) is a viral illness with a distinct clinical presentation of oral and characteristic distal extremity lesions. It is caused by members of the enterovirus genus, namely, coxsackievirus A16 or enterovirus 71. HFMD is more severe in infants and children than adults, but generally, the disease has a mild course and is self-limiting. However, in recent epidemiology of HFMD in Asia, severe cases with complications have been reported. Enterovirus 71 may cause myocarditis, pneumonia, and severe neurological complications such as brainstem encephalitis, aseptic meningitis, acute flaccid paralysis, meningoencephalitis, meningomyeloencephalitis, and even death. A large outbreak of HFMD in Taiwan and Singapore caused by enterovirus 71 had a high mortality rate; the deaths resulted from pulmonary hemorrhage, interstitial pneumonitis, or brainstem encephalitis. HFMD was also epidemic in Korea in the spring of 2010. Severe cases with complications including neurological complications and death have been reported in HFMD patients, thus it has become a public health issue. We report five children who had severe HFMD caused by enterovirus 71 with meningomyeloencephalitis which caused a disturbance in consciousness, motor weakness, strabismus, and voiding difficulty. There was no mortality, and no patients exhibited sequelae.
Adult ; Asia ; Brain Stem ; Child ; Consciousness ; Encephalitis ; Enterovirus ; Extremities ; Foot ; Hand ; Hemorrhage ; Humans ; Infant ; Korea ; Lung Diseases, Interstitial ; Meningitis, Aseptic ; Meningoencephalitis ; Mouth ; Mouth Diseases ; Myocarditis ; Paralysis ; Pneumonia ; Public Health ; Singapore ; Strabismus ; Taiwan

2

Cite

Share

A Case of Intrathoracic Malignant Peripheral Nerve Sheath Tumor in Neurofibromatosis Type I.

Young Mi KIM ; So Eun JEON ; Byung Ki LEE ; Yoon Jin LEE ; Sang Ook NAM ; Young Tak LIM

Journal of the Korean Child Neurology Society.2011;19(2):165-168.

Malignant peripheral nerve sheath tumor (MPNST) is a rare neoplasm and the main cause of the mortality in neurofibromatosis type 1 (NF 1). MPNSTs have been found mostly in the head and neck and the upper or lower extremities with intrathoracic MPNSTs being uncommon. PET has been a useful diagnostic modality of MPNSTs in NF 1. We present a 17-year-old girl patient with NF 1. She was admitted with chronic cough and shortness of breath caused by a huge mediastinal mass. An 18FDG-PET study revealed intense uptake at the mediastinal mass. She underwent surgery to lessen respiratory symptoms, and the mass was histologically diagnosed as an intrathoracic MPNST.
Adolescent ; Cough ; Dyspnea ; Head ; Humans ; Lower Extremity ; Neck ; Nerve Sheath Neoplasms ; Neurofibromatoses ; Neurofibromatosis 1 ; Peripheral Nerves

3

Cite

Share

Neurologic Complications of Bacterial Meningitis in Children.

Ki Hyun DOO ; Hye Won RYU ; Seung Hyo KIM ; Seung Soo KIM ; Byung Chan LIM ; Hui HWANG ; Jong Hee CHAE ; Ki Joong KIM ; Yong Seung HWANG

Journal of the Korean Child Neurology Society.2011;19(2):158-164.

PURPOSE: This study was performed to investigate clinical findings of acute neurologic complications and risk factors for chronic neurologic complications of bacterial meningitis in children. METHODS: Pediatric patients with community acquired bacterial meningitis diagnosed at Seoul National University Children's Hospital and Bundang Seoul National University Hospital were included. We investigated the relative frequency of neurologic complications and distribution of causative organisms. Chronic neurologic complication was defined as persistent neurologic deficit including recurrent seizures 6 months from the diagnosis. Multiple logistic regression analysis was used to identify risk factors for epilepsy and motor deficits, which were the most frequently reported chronic neurologic complications. RESULTS: A total of 90 cases were included in the study. Thirteen cases with less than 6 months follow-up duration were excluded from the analysis of risk factors for chronic neurologic complications. The mean age at diagnosis was 15.6 months. Streptococcus agalactiae was the most common pathogen accounting for 27 cases, followed by Streptococcus pneumoniae (19 cases), Hemophilus influenzae type b (13 cases), and Neisseria meningitidis (12 cases). Acute neurologic complications were found in 28 cases (31%): cerebral infarction in 16 cases, subdural effusion in 15 cases, and hydrocephalus in 9 cases. Chronic neurologic complications were found in 41 (53%) cases: epilepsy in 28 cases, motor deficit in 16 cases, hearing loss in 6 cases, and cognitive impairment in 4 cases. Cerebral infarction and S. pneumoniae infection were identified as risk factors for epilepsy. Cerebral infarction was a unique risk factor for motor deficit. CONCLUSION: Cerebral infarction is the important risk factor for the development of chronic neurologic complications including epilepsy and motor deficit in pediatric patients with bacterial meningitis.
Accounting ; Cerebral Infarction ; Child ; Epilepsy ; Follow-Up Studies ; Haemophilus influenzae type b ; Hearing Loss ; Humans ; Hydrocephalus ; Logistic Models ; Meningitis, Bacterial ; Neisseria meningitidis ; Neurologic Manifestations ; Pneumonia ; Risk Factors ; Seizures ; Streptococcus agalactiae ; Streptococcus pneumoniae ; Subdural Effusion

4

Cite

Share

Clinical and Genetic Characteristics of Prader-Willi Syndrome and Angelman Syndrome.

Ju Hyun KIM ; Mi Sun YUM ; Hae Won CHOI ; Eun Hye LEE ; Su Jeong YOU ; Tae Sung KO ; Han Wook YOO

Journal of the Korean Child Neurology Society.2011;19(2):150-157.

PURPOSE: Two different disorders, Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are caused by the deletion of 15q11-13 or the maternal/paternal uniparental disomy of chromosome 15 (mUPD(15)/pUPD(15)) through the genomic imprinting phenomenon. We studied the clinical manifestations of both diseases and genotype-phenotype correlations in PWS. METHODS: We retrospectively analyzed medical records of patients who had been genetically confirmed as PWS or AS from December 1998 to March 2010 at Asan Medical Center. Clinical characteristics at diagnosis and genetic causes were reviewed. In PWS, clinical characteristics of the patients with microdeletions were compared with those with mUPD(15). RESULTS: During the study period, we found 90 patients with PWS and 30 with AS. In cases of PWS, the male to female ratio was 1.65:1 and the mean age at initial diagnosis was 41 months. Symptoms at first diagnosis were hypotonia (70 cases) and developmental delay (66 cases). More hypopigmentation and eye abnormalities occurred in the microdeletion group (n=62) than in the mUPD(15) group (n=21). In AS, the male to female ratio was 1.3:1 and the mean age at initial diagnosis was 23 months. Distinguishing symptoms were speech impairment, seizure, and behavioral uniqueness. Microdeletion by FISH was detected in 19 patients among 20 patients and one of the non-deletion patient showed pUPD(15) on a DNA methylation test. CONCLUSION: PWS and AS, two distinct neurogenetic disorders with different clinical presentations were the first known examples of human diseases involving imprinted genes. This study about clinical characteristics and genetic analysis of PWS and AS may help our understanding of these diseases and thus, assist in making correct diagnoses.
Angelman Syndrome ; Chromosomes, Human, Pair 15 ; DNA Methylation ; Eye Abnormalities ; Female ; Genetic Association Studies ; Genomic Imprinting ; Humans ; Hypopigmentation ; Male ; Medical Records ; Muscle Hypotonia ; Prader-Willi Syndrome ; Retrospective Studies ; Seizures ; Uniparental Disomy

5

Cite

Share

Lamotrigine as a First-line Monotherapy in Children with Absence Seizures.

Ju Young LEE ; Mi Sun YUM ; Eun Hee KIM ; Eun Hye LEE ; Tae Sung KO

Journal of the Korean Child Neurology Society.2011;19(2):142-149.

PURPOSE: Typical absence seizures are characterized by the daily presentation of frequent staring and typical 3Hz spike and wave discharges in otherwise healthy children. Typical absence seizures can present in childhood absence epilepsy and related syndromes. Lamotrigine (LTG) has been anecdotally used as a monotherapy for this seizure type; however, the efficacy and tolerability has remained unknown. The aim of this study was to evaluate the efficacy, tolerability, and long-term outcome of LTG in patients with newly diagnosed typical absence seizures. METHODS: Medical records of 36 patients having newly diagnosed typical absence seizures were analyzed. Patients were included based on the history of typical absence seizures and 3 Hz spike and wave discharges in interictal EEG. LTG was administered at a starting dose of 10 mg/day and increased by 10 mg/week until seizure freedom or reaching a dose of 10 mg/kg/day. RESULTS: Thirty-one patients had childhood absence epilepsy (CAE) and five had juvenile absence epilepsy (JAE). Thirty patients (83.3%) experienced more than 50% reduction of seizure frequency after 4 weeks of initial titration. Twenty-three patients (63.9%) achieved seizure freedom for 4 weeks after a mean duration of 8.3 weeks of treatment, and the cumulative numbers of patients with seizure freedom were 6 (16.7%), 18 (50.0%), and 23 (63.9%) within 4, 8, and 12 weeks, respectively. After 12 months of treatment, 12 patients (33.3%) showed normalized EEG findings, and their symptoms also disappeared. Four patients had uncontrolled seizures despite of dose increment and consequently needed additional treatment with valproic acid or ethosuximide. Most adverse effects, including skin rash (n=4), headache (n=1), and dizziness (n=1), were transient and tolerable. CONCLUSION: Lamotrigine, as a first-line monotherapy in newly diagnosed patients with typical absence seizures, could be safely used with good efficacy in seizure control.
Child ; Dizziness ; Electroencephalography ; Epilepsy ; Epilepsy, Absence ; Ethosuximide ; Exanthema ; Freedom ; Headache ; Humans ; Medical Records ; Seizures ; Triazines ; Valproic Acid

6

Cite

Share

Early Diagnosis of Perinatal Ischemic Stroke Based on Clinical and Radiological Characteristics.

Hee Su KIM ; Jeehun LEE ; Cha Gon LEE ; Sook Hyun NAM ; Hong EO ; Ji Hye KIM ; Yun Sil CHANG ; Won Soon PARK ; Munhyang LEE

Journal of the Korean Child Neurology Society.2011;19(2):131-141.

PURPOSE: Perinatal ischemic stroke (PIS) has been increasingly recognized and regarded as one of the major causes of neurological disability occurring in the neonatal period. Due to its vague presenting symptoms, the clinical diagnosis of PIS can be delayed. The aim of this study was to delineate the clinical and radiological characteristics of PIS in order to establish its early diagnosis. METHODS: From January 2002 to October 2010, 24 neonates with evidence of ischemic cerebral infarction on brain magnetic resonance imaging (MRI) were enrolled. Perinatal and neonatal clinical characteristics, electroencephalogram (EEG), and brain MRI findings were retrospectively reviewed. Using those data, analysis was done to elicit clues for early diagnosis and prognostic factors of PIS. RESULTS: Sixteen males and eight females were diagnosed with PIS. Twelve cases presented with apnea and ten patients with seizures. The diagnosis of PIS was confirmed by brain MRI. Sixteen patients (66.7%) had infarction in the territory of the middle cerebral artery, and fifteen neonates had infarction in the left hemisphere. Of 11 infants who presented with a focal lesion on brain MRI, three patients were diagnosed by diffusion weighted images (DWI). Their T2- and FLAIR sequences showed subtle signal changes, whereas DWI revealed bright signal intensity. Thirteen patients were included in the delayed diagnostic group (diagnostic interval >24 hours). In those patients, apnea (69.2%) was more likely than seizures (15.4%) to be the initial symptom. The extent of the lesion on brain MRI was likely to be a better predictor of the neurologic outcome. Hemiplegia or hemiparesis was found in seven patients who had extensive lesions involving the gray and white matter, internal capsule, and basal ganglia. CONCLUSION: PIS should be considered as a differential diagnosis for neonates who present with apnea, lethargy or subtle seizures. DWI of brain MRI is very useful for early diagnosis of PIS. The extent of the lesion was also found to be significantly associated with poor outcome.
Apnea ; Brain ; Cerebral Infarction ; Diagnosis, Differential ; Diffusion ; Early Diagnosis ; Electroencephalography ; European Continental Ancestry Group ; Female ; Hemiplegia ; Humans ; Infant ; Infant, Newborn ; Infarction ; Internal Capsule ; Lethargy ; Magnetic Resonance Imaging ; Male ; Middle Cerebral Artery ; Neurologic Manifestations ; Paresis ; Retrospective Studies ; Seizures ; Stroke

7

Cite

Share

Decreased Frequency of Aspiration Pneumonia after Percutaneous Endoscopic Gastrostomy in Neurodisabled Children with Dysphagia.

Hyo Jung PARK ; Ji Hyun KANG ; Jung mi KIM ; Mi Ae CHU ; Byung Ho CHOE ; Hye Eun SEO ; Soonhak KWON

Journal of the Korean Child Neurology Society.2011;19(2):124-130.

PURPOSE: Nasogastric tube or percutaneous endoscopic gastrostomy (PEG) tube can provide a means of feeding when oral intake is not adequate. This study aimed to evaluate the benefits of PEG such as reduced respiratory complications in neurodisabled children with dysphagia. METHODS: Twenty-six neurodisabled patients with dysphagia were followed-up after PEG for at least 12 months from 1999 to 2008. Medical records including characteristics, body weight, frequency of aspiration pneumonia, and grade of gastroesophageal reflux (GER) were reviewed retrospectively between the time before and after PEG. The data collected before PEG was compared with those at 0-6 months and 6-12 months after PEG. RESULTS: The 26 (male 14) enrolled patients had a mean age on PEG of 6.4+/-4.7 (0.9-16.9) years. The body weight percentile of 16 out of 26 patients was under the 3rd percentile. Underlying diseases were cerebral palsy (n=16), acquired brain-injury (n=4), spinal muscular atrophy (n=3), neurodegenerative disease (n=2), and congenital muscular dystrophy (n=1). Body weight was not significantly different before and after PEG. The frequency of aspiration pneumonia was 2.2 times per 6 months before PEG, compared to 0.35 times (0-6 months) and 0.27 times (6-12 months) after PEG, which showed a significant difference (P=0.000). CONCLUSION: The frequency of aspiration pneumonia decreased significantly by PEG in neurodisabled children with dysphagia.
Body Weight ; Brain Injuries ; Cerebral Palsy ; Child ; Deglutition Disorders ; Gastroesophageal Reflux ; Gastrostomy ; Humans ; Medical Records ; Muscular Atrophy, Spinal ; Muscular Dystrophies ; Neurodegenerative Diseases ; Pneumonia ; Pneumonia, Aspiration ; Retrospective Studies

8

Cite

Share

Clinical Manifestations of Leukodystrophies: A Single Center Study.

So Yeon KANG ; Mi Sun YUM ; Hae Won CHOI ; Eun Hye LEE ; Tae Sung KO ; Han Wook YOO

Journal of the Korean Child Neurology Society.2011;19(2):115-123.

PURPOSE: Leukodystrophies have been defined as inherited metabolic disorders of myelin resulting in abnormal development or progressive destruction of the white matter. This study was performed to investigate the clinical manifestations and treatments of leukodystrophies in a single Korean tertiary center. METHODS: We retrospectively analysed the medical records of patients who had been diagnosed with leukodystrophy from May 1995 to May 2010 at the Asan Medical Center. RESULTS: During the 15-year study period, 36 cases of leukodystrophies were diagnosed with an verage age at symptom presentation of 49 months. Prominent symptoms at presentation were developmental delay (41%) and seizure (25%); however, nystagmus, developmental regression, hearing loss, gait disturbance, visual disturbance, attention deficit, hypotonia, hyperpigmentation, and hemiparesis were also observed. On MRI, periventricular involvement was noted frequently. The most common diagnoses were adrenoleukodystophy (25%), metachromatic leukodystrophy (11%), Krabbe disease (11%), and Pelizaeus-Merzbacher disease (8.3%). No final diagnosis was made in 14 cases (41%). Bone marrow transplantation was performed in 4 patients and showed favorable prognoses. CONCLUSION: Clinical features of leukodystrophies are not specific to diagnosis and most leukodystrophies remain undiagnosed; however, a logical algorithm based on prevalence could aid the laboratory testing. Because early detection and diagnosis is crucial for treatment and prognosis, it is important to have a high index of suspicion and watchful screening of familial history.
Adrenoleukodystrophy ; Bone Marrow Transplantation ; Canavan Disease ; European Continental Ancestry Group ; Gait ; Hearing Loss ; Humans ; Hyperpigmentation ; Leukodystrophy, Globoid Cell ; Leukodystrophy, Metachromatic ; Logic ; Mass Screening ; Medical Records ; Muscle Hypotonia ; Myelin Sheath ; Paresis ; Pelizaeus-Merzbacher Disease ; Prevalence ; Prognosis ; Retrospective Studies ; Seizures

9

Cite

Share

The Effect of Preventive Medication on the Improvement of Associated Symptoms in Pediatric Migraine.

Deok Soo KIM

Journal of the Korean Child Neurology Society.2011;19(2):109-114.

PURPOSE: Migraine is a common disorder in childhood. Its associated symptoms such as nausea or dizziness etc. are frequently complained about and worsen discomfort in cases of pediatric migraine. This study aimed to investigate the relieving effect of preventive therapy on the associated symptoms as well as headache-related characteristics. METHODS: We reviewed the clinical data of subjects aged seven to eighteen years who were diagnosed with migraine and had received prophylactic medication for more than two months. The headache-related characteristics and associated symptoms were analysed with prophylactic drugs at one month and three months after medication. RESULTS: The gender ratio was 11:10 and the mean age was 10.8 years. One month after medication, the duration of headache was reduced in ten of nineteen, a reduction in frequency was observed in fourteen, and improvement in headache intensity in nine. The duration time was shortened in three of eight subjects three months after initiation of medication, the frequency reduced in five, and decreased intensity in seven. Nausea was absent in eight of fifteen one month after treatment, abdominal pain in seven of thirteen, dizziness in five of sixteen, photophobia in six of seventeen, and phonophobia in seven of sixteen. The ratio of disappearance of associated symptoms increased three months after initiation of treatment. CONCLUSION: Prophylactic medication may be effective in relieving migraine-associated symptoms as well as improving headache-related characteristics.
Abdominal Pain ; Adolescent ; Aged ; Child ; Dizziness ; Headache ; Humans ; Hyperacusis ; Migraine Disorders ; Nausea ; Photophobia

10

Cite

Share

Two Cases of Tuberous Sclerosis with Cardiac Rhabdomyoma Diagnosed by Prenatal Ultrasound.

Ung Geon OH ; So Youn AHN ; Jung Mi CHUN ; So Young YOUN ; Yeon Kyung LEE ; Son Moon SHIN

Journal of the Korean Child Neurology Society.2008;16(2):241-246.

Tuberous Sclerosis is an autosomal-dominant neurocutaneous disorder with a clinical triad of seizures, mental retardation and adenoma sebaceum, and the incidence is approximately one in 15,000 to 30,000 live births. The condition can be suspected if multiple cardiac rhabdomyomas are seen on fetal ultrasound. Tuberous sclerosis was subsequently confirmed by the brain ultrasound and MRI which revealed multiple nodules in the subcortical, subependymal or periventricular areas. We experienced two cases of antenatal tuberous sclerosis was diagnosed by ultrasound. One case was diagnosed with tuberous sclerosis at birth, the other case was confirmed with tuberous sclerosis during follow up brain ultrasound. We report these cases with brief review of related literatures.
Brain ; Follow-Up Studies ; Incidence ; Intellectual Disability ; Live Birth ; Neurocutaneous Syndromes ; Parturition ; Prenatal Diagnosis ; Rhabdomyoma ; Seizures ; Tuberous Sclerosis

DISPLAY OPTIONS

Cite

Share

Cite

Share

Cite

Share

Cite

Share

Cite

Share

Cite

Share

Cite

Share

Cite

Share

Cite

Share

Cite

Share