No abstract available.
Neurology*

Linear and whorled nevoid hypermelanosis(LWNH) is characterized by macules in streaks and whorls along Blaschko's lines, that are not preceded by inflammation. LWNH can present with various findings such as neurologic, musculoskeletal, ophthalmologic, facial and cardiac abnormalities. Intracranial lipoma is very rare condition, with an incidence of less than 1% of all intracranial tumors. We recently experienced a case of LWNH with intracranial lipoma of corpus callosum. We report this case with a brief review of the related literature.
Corpus Callosum ; Hyperpigmentation* ; Incidence ; Inflammation ; Lipoma*

Robinow syndrome is a rare inherited disorder initially reported by Robinow et al. in 1969 as a new dwarfing syndrome. It is characterized by the presence of fetal face, forearm shortening, genital hypoplasia, and hemivertebrae. The autosomal recessive form of Robinow syndrome shows a more severe clinical phenotype which is expressed by the mutation of homozygous ROR2(Receptor tyrosine kinase like Orphans) gene, mapped to the chromosome 9q22, a region that overlaps the locus for autosomal dominant inherited brachydactyly type B(BDB). ROR2 encodes the receptor tyrosine kinase, which is important for the development of mesomelic long bones. We experienced a boy diagnosed as a Robinow syndrome with fetal face(frontal bossing, hypertelorism, small up-turned nose, triangular mouth with down turned angles, micrognathia), large anterior fontanelle, cranium bifidum, mesomelic shortening, cryptorchidism. We present this case with a brief review of related literature.
Brachydactyly ; Cranial Fontanelles ; Cryptorchidism ; Encephalocele* ; Forearm ; Humans ; Hypertelorism ; Male ; Mouth ; Nose ; Phenotype ; Protein-Tyrosine Kinases ; Skull*

PURPOSE: Acute disseminated encephalomyelitis(ADEM) is a neurological disease that is commonly associated with previous history of infection or vaccination. It is mediated through immunological mechanisms, resulting in inflammatory demyelination of the central nervous system. The authors investigated the clinical, radiological features and disease progress of patients diagnosed with ADEM. METHODS: We have retrospectively reviewed 25 patients diagnosed with ADEM through neurological symptoms and brain MRI findings from July 1992 to July 2003. Patients were divided into three groups; patients treated with dexamethasone(group I), those with dexamethasone and immune globulin(group II), and those with methylprednisolone and immune globulin(group III). The neurological symptoms, time taken for recovery, recurrence rates and presence of neurologic residues were statistically analyzed. RESULTS: All 25 patients were treated with steroid, and 18 patients received immune globulin at the same time. Symptomatic improvements occurred 1 to 14 days with a mean of 6.9+/-4.0 days after administration of steroids. 6 patients displayed long-lasting sequelae, including 2 patients who relapsed. The average time taken for clinical improvements in various treatment groups were as follows; 7.5+/-2.1 days for group I(N=4), 7.3+/-5.1 days for group II(N=9), and 5.3+/-2.8 days for group III(N=4). Group III showed most rapid recovery without statistical significance. Differences in the rates of relapse and prevalence of neurological sequelae among those groups were statistically insignificant. CONCLUSION: The image detected on MRI and the clinical features of the patients did not differ from these of previously reported studies. The size of the sample was too small to acquire statistically significant results, but the patients who received methylprednisolone and immune globulin showed shortest recovery time, which might necessiate further studies.
Brain ; Central Nervous System ; Child* ; Demyelinating Diseases ; Dexamethasone ; Encephalomyelitis, Acute Disseminated* ; Humans ; Magnetic Resonance Imaging ; Methylprednisolone ; Prevalence ; Recurrence ; Retrospective Studies ; Steroids ; Vaccination

PURPOSE: The objective of this study is to review the clinical manifestations and acknowledge the prognostic factors in occipital lobe seizure and benign childhood epilepsy with occipital paroxysm (BEOP). METHODS: We reviewed retrospectively 253 cases who showed occipital epileptiform activity on EEG at the Pediatric Neurology Clinic, Yonsei University Medical Center from January 1997 to June 1999, and selected 72 cases who had been followed-up for over 2 years. According to the occurrence of seizure for recent 2 years, they were classified into 2 groups : favorable and unfavorable groups. Clinical manifestations were reviewed and analyzed in each group with chi-square and student t-test. RESULTS: 1) Symptomatic group was 16 out of 72 cases (22%), and cryptogenic group was 56 cases (78%). Seventeen out of 72 cases (24%) had the clinical manifestation of BEOP. 2) Early-onset variant is 9 out of 17 cases (52%), late-onset was 8 cases (48%) in BEOP patients. 3) Prognostic factors influencing unfavorable prognosis were prematurity, LBW, perinatal asphyxia and postictal headache in occipital lobe seizure. 4) Prognostic factors in BEOP were determined by age of onset, existence of visual symptom, oculomotor symptom, automatism, autonomic symptom, postictal headache, and diurnal or nocturnal seizure. CONCLUSION: Occipital lobe seizure manifests various clinical symptoms with various prognosis. Seventeen out of 72 cases were determined as BEOP: 9 cases of early variant and 8 cases of late onset. We acknowledge the prognostic factors in epilepsy with occipital lobe seizure as well as BEOP.
Academic Medical Centers ; Age of Onset ; Asphyxia ; Automatism ; Child* ; Electroencephalography ; Epilepsies, Partial* ; Epilepsy ; Headache ; Humans ; Neurology ; Occipital Lobe* ; Prognosis ; Retrospective Studies ; Seizures

GM2 gangliosidosis II(Sandhoff disease) is a lysosomal storage disease due to deficiency of beta-hexosaminidase activity, transmitted by mode of autosomal recessive. Clinical features are so variable, ranging from infantile onset resulting death before 4 years, to subacute or chronic forms with more slowly progressive neurologic condition. We experienced a case of GM2 gangliosidosis II in a 14 months old male who had developmental deterioration and seizures, so we report and review the related literatures.
beta-N-Acetylhexosaminidases ; Gangliosidoses, GM2* ; Hexosaminidases ; Humans ; Infant ; Lysosomal Storage Diseases ; Male ; Seizures

PURPOSE: The mechanisms underlying febrile convulsions, which have multiple etiological factors, are not yet clear. The aim of the present study was to determine whether there were any changes and correlations in serum and cerebro-spinal fluid(CSF) zinc(zn) levels and the levels of tumor necrosis factor-alpha(TNF-alpha), Interleukin-1beta(IL-1beta) and Interleukin-6(IL-6) in children with febrile convulsions. METHODS: Serum and CSF zinc levels and the levels of TNF-alpha, IL-1beta and IL-6 were measured in 20 children with febrile convulsions : 14 with simple febrile convulsions, 6 with complex convulsions and 20 as health controls. Zinc levels were measured by automic absorption spectrophotometry(Thermo Jarrell Ash/Smith-Hieftje 1000). The TNF-alpha, IL-1beta and IL-6 were measured by sandwich-type ELISA kit(Genzyme co.). RESULTS: The CSF and serum zn levels of the febrile convulsion group were found to have a mean of a 58.92+/-64.85micro gram/dl, 106.5+/-64.9micro gram/dl, respectively. In the controls, the CSF and serum zn levels were a mean of a 68.66+/-43.0micro gram/dl, 109.6+/-36.9micro gram/dl, respectively. We found that the TNF-alpha were undetectable in serum and CSF of all children with febrile convulsions and control subjects. CONCLUSION: No significant relationship was found between zinc levels of the serum and CSF and the levels of TNF-alpha, IL-1beta and IL-6 in children with febrile convulsions or controls. These results do not support the hypothesis that febrile convulsions are related to reduced serum and CSF zn levels and also elevated levels of TNF-alpha, IL-1beta and IL-6.
Absorption ; Cerebrospinal Fluid* ; Child ; Enzyme-Linked Immunosorbent Assay ; Humans ; Interleukin-6 ; Necrosis ; Seizures ; Seizures, Febrile* ; Tumor Necrosis Factor-alpha ; Zinc*

Acute encephalitis with thalamotegmental involvement in infants and children was reported in Japan, 1995. This encephalitis was preceded for several days by fever and symptoms of upper respiratory infection. These symptoms were followed by the rapid evolution of stupor and coma, associated with generalized seizures and decorticated and decerebrate rigidity without focal neurologic or meningeal signs. The prognosis was generally poor. We have experienced a case of acute encephalitis; the child had three days of fever before the hospitalization and convulsion and deteriorated mental change into a semicomatous state had developed. The patient was diagnosed as acute encephalitis with thalamotegmental involvement by magnetic resonance imaging.
Child ; Coma ; Decerebrate State ; Encephalitis* ; Fever ; Hospitalization ; Humans ; Infant ; Japan ; Magnetic Resonance Imaging ; Prognosis ; Seizures ; Stupor

PURPOSE: Acute disseminated encephalomyelitis is an acute demyelinating autoimmune inflammatory disease of the central nervous system, which develops after infection or vaccination. The diagnosis is dependent on its clinical features and the brain MRI finding. Severely damaging white matter, acute disseminated encephalomyelitis which can lead to marked neurologic dysfunctions, may be fatal, and produce a permanent residual static disability or it may fully recover. We performed this study to investigate the clinical manifestations and prognosis of acute disseminated encephalomyelitis. METHODS: Ten cases (5 males and 5 females) of acute disseminated encephalomyelitis, who were diagnosed in the Department of Pediatrics at Yonsei University from January 1990 to December 1998, were reviewed retrospectively. RESULTS: The age at onset of symptoms was between 2 years 8 months and 13 years 8 months, and the time to the onset of symptoms was between 1 day and 7 days. The proceding events were nonspecific upper respiratory infections in 6 cases, and the other 4 cases had no proceeding events. The initial symptoms were altered consciousness, hemiparesis, seizure, fever, headache, and vomiting. The findings of cerebrospinal fluid were normal in 7 cases and the increase of protein and pleocytosis in 3 cases. Brain MRI showed multifocal high signal intensity lesions on T2-weighted image mainly in cerebral white matter, basal ganglia, and less frequently in the brain stem and cortex. Follow-up brain MRI was taken in 7 cases, and in all 7 cases brain MRI demonstrated partial to complete resolution of the lesions. In 8 cases, EEG was performed, and all 8 cases showed generalized or focal slow waves. All patients were treated with IV globulin and dexamethasone. The durations of the treatment were 4 or 5 days for IV globulin, and 8 days to 20 days for dexamethasone. The treatment was started within the first to third day of their admission, and the symptoms were improved within the second to the thirtieth day after the treatment started. All patients were followed-up for more than 2 months and up to 5 years 8 months. Among 10 cases, 9 of them were fully recovered, and only 1 case had left hemiparesis. CONCLUSION: Acute disseminated encephalomyelitis shows various clinical manifestations depending on its involvement with brain lesions, such as altered mental state, hemiparesis, and seizure. And IV globulin and dexamethasone were very effective in treating acute disseminated encephalomyelitis. In this study, the prognosis of acute disseminated encephalomyelitis did not correlate to its initial symptoms, CSF findings, EEG findings, MRI findings, or to the duration of its treatment. In most cases, the symptoms were fully reversible; however, in some cases, there remained permanent residual neurologic consequences.
Basal Ganglia ; Brain ; Brain Stem ; Central Nervous System ; Cerebrospinal Fluid ; Consciousness ; Dexamethasone ; Diagnosis ; Electroencephalography ; Encephalomyelitis, Acute Disseminated* ; Follow-Up Studies ; Headache ; Humans ; Leukocytosis ; Magnetic Resonance Imaging ; Male ; Neurologic Manifestations ; Paresis ; Pediatrics ; Prognosis* ; Respiratory Tract Infections ; Retrospective Studies ; Seizures ; Seizures, Febrile ; Vaccination ; Vomiting

Acute disseminated encephalomyelitis(ADEM) and acute relapsing disseminated encephalomyelitis(ARDEM) are representative demyelination diseases that occur among young children with a fulminant onset similar to encephalitis or meningitis. The diseases often occur after some viral infection of immunization and the etiology of these diseases is considered to be an autoimmune response because of the similarity in pathologic findings to experimental allergic encephalomyelitis. Cerebral computed tomography(CT) findings of demyelination in ADEM or ARDEM show normal to low density areas in the white matter. In cerebral MRI findings, a scattered distinct high intensity lesion considered to be demyelination is observed in 72-weighted imaging even in the early stages. ADEM is usually monophasic, but recurrent episodes may occure. When ADEM is reccurent, the distinction from multiple sclerosis becomes difficult. We report here a case of acute relapsing disseminated encephalomyelitis(ARDEM) in a 9 years old male child who experence ADEM, 3 times.
Autoimmunity ; Child ; Demyelinating Diseases ; Encephalitis ; Encephalomyelitis, Acute Disseminated* ; Encephalomyelitis, Autoimmune, Experimental ; Humans ; Immunization ; Magnetic Resonance Imaging ; Male ; Meningitis ; Multiple Sclerosis