No abstract available.
Neurology*

No abstract available.
Child* ; Humans

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

Neuronal ceroid lipofuscinosis, which is also known as Batten-Bielschowsky disease, is a group of neuro degenerative disorders, associated with various progressive symptoms including seizures, dementia, visual loss and cerebral atrophy. We experienced a case of late infantile neuronal ceroid lipofuscinosis in a 6-year-old boy who had progressive myoclonic seizures, ataxia, rapid psychomotor deterioration and visual loss. Photic stimulation at 2 to 5 Hz elicited a discrete spike and wave discharges in the occipital region on an electroencephalogram. Magnetic resonance imaging of the brain showed generalized cerebral and cerebellar atrophy. An electron microscopic examination of the skin revealed characteristic curvilinear inclusion bodies. An optic fundoscopy revealed a devastated retina and severe optic atrophy. We report this case with the brief review of related literature.
Child ; Human ; Male ; Neuronal Ceroid-Lipofuscinosis/*diagnosis/pathology/physiopathology ; Support, Non-U.S. Gov't

PURPOSE: Seizures arising from the frontal area are the second most common type of partial seizure disorder. As many of them showes various clinical manifestations, they are often misdiagnosed in children. This studies was performed to correlate clinical characteristics of children with electroencephalographic abnormal findings in the frontal area. METHODS: The clinical manifestations were analysed in 81 children with seizures showing interictal paroxysmal activities on scalp electroencephalography at frontal lobe area. This clinical manifestation involves type of seizure, frequency and duration of seizure, mental retardation, speech and motor development as well as medication. RESULTS: The abnormal electrical activities of frontal lobe were classified to spike or sharp waves in 56 cases, spike and waves in 16 cases, slow waves in 9 cases. 34 children had generalized tonic clonic seizures, 19 had partial seizure disorders, 8 had absence seizures, and 6 had atonic seizures, 12 had generalized tonic seizures, 2 had myoclonic seizures. Accompanying developmental disorders were mental retardation in 20 cases, speech delay in 27 cases, motor delay in 11 cases. Polytherapy is more common in children with specific etiology and absence seizure. CONCLUSION: Epileptic children with frontal paroxysmal activities in their EEG clinically manifestes partial and generalized seizure, and speech delay is the most frequent in developmental delay. Patents with frontal lobe epilepsy manifest various unpredictable clinical features.
Child* ; Electroencephalography ; Epilepsies, Partial ; Epilepsy, Absence ; Epilepsy, Frontal Lobe ; Frontal Lobe ; Humans ; Intellectual Disability ; Language Development Disorders ; Scalp ; Seizures

PURPOSE: This is a clinical study to evaluate the efficacy and adverse reactions of deflazacort as adjunctive therapy in childhood intractable atonic seizure including Lennox- Gastaut syndrome. METHODS: This is a clinical prospective, add-on, and open-label study performed for 6 months from Jun. 2000 to Dec. 2000 at the pediatric neurology clinic of Severance Hospital. Subjects were selected according to the following criteria, 1) Patients were diagosed as refractory atonic seizure disorder including Lennox-Gastaut syndrome during more than 6 months, 2) Patients had been on maximal doses of at least 2 anticonvulants including sodium valproate and clonazepam or clobazam. We observed seizure frequency of 4 weeks and 24 week medication period as well as adverse reactions every 4 weeks. Those data were analysed primarily for median seizure frequency reduction rate and other efficacy variables such as responder rate with frequency reduction more than 50% and seizure free rate. We also compared the clinical aspects between responder and non responder group. RESULTS: 48 patients were evaluated for efficacy and adverse reactions. Median seizure frequency reduction rate was 42.7%, responders were 22 patients(45.8%) and seizure free patients were 4(8.3%). In Lennox-Gastaut syndrome, median seizure frequency reduction rate was 48.9% and in atonic seizure only 39.3%. However, there were no statistically significant differences in efficacy. We compared clinical aspects between respoder and non responder groups, but couldn't find any difference. The number of patients manifesting adverse reactions was 20(41.6%) in an descending order of frequency, weight gain in 16 patients(33.3%), and irritability in 4 patients(8.3%). CONCLUSION: Deflazacort is believed to be an effective and safe anticonvulsant when used as adjunctive therapy for atonic seizure including Lennox-Gastaut syndrome. However, long term follow up is required to evaluate relapse rate and its adverse reactions.
Clonazepam ; Epilepsy ; Follow-Up Studies ; Humans ; Neurology ; Prospective Studies ; Recurrence ; Seizures* ; Valproic Acid ; Weight Gain

PURPOSE: The dancing eye syndrome is a rare neurological condition of unknown etiology characterized by multidirectional chaotic eye movement(opsoclonus), myoclons and ataxia. In children, it could be a paraneoplastic syndrome in association with neuroblastoma. Long-term neurological sequelae and decreased visual acuity are major problem in these patients. This study was done retrospectively to evaluate the clinical course and neurologic sequelae of the dancing eye syndrome and we also investigated in association with neuroblastoma. METHODS: We retrospectively reviewed the medical records of 5 childrens who were admitted to Pediatric Neurology, College of Medicine, Yonsei University for dancing eye syndrome from 1990 to 2001. RESULTS: The range of age was from 4 months to 2 years 9 months, 4 of them were female and the rest one was male. The mean follow up duration was 4 years 6 months. The associated diseases were hypoxic ischemic encephalopathy(2 cases), congenital aniridia(1 case). Neuroblastoma was identified in only 1 children, stage 2A. Four of them had recurrence of opsoclonus and visual acuity were getting worse(near blindness in 1 case). Four patients had a long-term neurological sequelae. The long-term neurological sequelae was dysarthria, learning disorder, seizure, ataxia. CONCLUSION: MIBG(Metaiodobenzylguanidine) scan and abdominal sonography are highly effective in the detection of neuroblastoma. Steroid therapy seems to be effective in opsoclonus in acute stage but did not necessarily have a good long term neurological outcome as it recurred. In conclusion, major problem in dancing eye syndrome is not opsoclonus and myoclonus in acute stage but decreased visual acuity and long-term neurological sequelae.
Ataxia ; Blindness ; Child ; Dancing* ; Dysarthria ; Female ; Follow-Up Studies ; Humans ; Learning Disorders ; Male ; Medical Records ; Myoclonus ; Neuroblastoma ; Neurology ; Ocular Motility Disorders ; Paraneoplastic Syndromes ; Recurrence ; Retrospective Studies ; Seizures ; Visual Acuity

PURPOSE: This is a clinical study to evaluate the efficacy and safety profiles of topiramate up to 9 mg/kg/day as adjunctive therapy in various refractory childhood epilepsies including Lennox-Gastaut syndrome in Korea. METHODS: Subjects were selected accorting to the following criteria in various childhood epileptic children, refractory seizure even the patients had been on maximal doses of more than at least 2 other anticonvulants, any type of seizure or epileptic syndrome of childhood, those who had been on topiramate more than 6 months. This is a clinical retrospective study performed for 2 years from Feb. 1999 to Feb. 2001 at the Severance hospital pediatric neurological clinic. The topiramate was given the patients as add-on therapy and we observed the seizure frequency, type of seizure, development of any adverse effects, and the difference of result between the idiopathic and symptomatic or cryptogenic group. Of the 238 patients at our clinic on topiramate for 2 years, 114 patients with refractory were enrolled in this study. Those data were analysed with descriptive methods and qui-squares to evaluate the efficacy and safety profiles of topiramate. RESULTS: 60 patients out of 114(52.6%) manifested reduction of seizure occurrence more than 50%, while 12 patients(10.5%) were seizure free. 39 patients(55.7%) out of 70 with partial seizure reduced seizure occurrence more than 50% by add-on therapy and 7 patients(10.0%) had no further seizures. In the group of generalized tonic clonic seizure, 15 patients(57.7%) reduced seizure over 50% and 5(19.2%) had no seizures with add-on therapy. Of patients with Lennox-Gastaut syndrome, 25.0% showed a greater than 50% reduction but no patient proved to be seizure-free. 4 patients with myoclonic seizure did not respond to add-on therapy. There was no difference of seizure frequency both idiopathic and symptomatic or cryptogenic group of partial and generalized tonic clonic seizure. The number of patients manifesting adverse reactions was 48(42.1%) patients in order of frequency, the reactions were somnolence in 26, irritability in 16 and anorexia in 6 patients. CONCLUSION: Topiramate is believed to be an effectsive, safe anticonvulsant when used as adjunctive therapy for various refractory childhood epilepsies. However, patients with Lennox-Gastaut syndrome and myoclonic seizures were reacted less favorably to topiramate.
Anorexia ; Child ; Epilepsy* ; Humans ; Korea ; Retrospective Studies ; Seizures