A Case of Late Infantile Neuronal Ceroid Lipofuscinosis

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.

Clinical Progress and Treatment Result in Children with Acute Disseminated Encephalomyelitis

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.

A Case of Robinow Syndrome(Fetal Face Syndrome) Associated with Cranium Bifidum

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.

Development Disabilities in Children: Recognition and Evaluation

No abstract available.

Recent Studies and Clinical Application in Pediatric Neurology: A PET Study

No abstract available.

A Case of Linear and Whorled Nevoid Hypermelanosis with Intracranial Lipoma

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.

Efficacy of Deflazacort with Add-on Therapy in Childhood Intractable Atonic Seizure

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.

Clinical Studies of Children Manifesting Electroencephalographic Paroxysmal Activities in the Frontal Area

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.

Efficacy and Safety of Topiramate in Refractory Childhood Epilepsy

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.

Clinical Feature of the Dancing Eye Syndrome

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.

Clinical Manifestations and Prognostic Factors of Occipital Lobe Epilepsy in Children

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.

A Case of Acute Encephalitis with Thalamotegmental Involvement

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.

Psychosocial Assessment of Children with Epilepsy

PURPOSE: Some of epileptic children are known to have behavioral problems. But some experts deny frequent association of behavioral problems in epileptic children, compared to non epileptic children. The purpose of this study is to know the relations between the clinical characteristics and behavioral problems in epileptic children. METHODS: Ninety-nine patients were grouped according to underlying disease causing epilepy, seizure type, occurrence of seizure within recent 1 year and duration of treatment. CBCL(Child Behavior Chencklist), which were modified by Oh et al., was used as a tool for psychosocial assessment. RESULTS: 1) Symptomatic group had higher risk than cryptogenic group on school in social competence scale. In behavioral problem scale. Symptomatic group showed none of social problems or thought problems. 2) Partial seizure group has higher risk than generalized seizure group on social problems in behavioral problem scale. 3) Patients with recent seizure experience had higher risk on social, school in social competence scale, social problems, thought problems, attention problems, total behavioral problems in behavioral scale. 4) There was no correlation between duration of treatment and psychosocial parameters. CONCLUSION: In epileptic children, behavioral problem was not significantly outstanding compared with non epileptic children. It appears that some of their behavior problems have been originated mainly from problems in social adaptation, which might have not been caused by disease itself, but by social prejudice and social misunderstanding.

Pathogenesis and Correlations of Serum and Cerebrospinal Fluid Zinc Levels in Febrile Convulsions

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.

GM2 Gangliosidosis II

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.

Clinical Characteristics of Complex Partial Seizures: a Temporal versus a Frontal Lobe Onset

PURPOSE: This study was performed to correlate clinical behaviours with either a temporal or frontal site of origin and then to identify behaviours that might have a significant practical value in differentiating a temporal from a frontal focus and thus reduce the need for invasive monitoring. METHODS: We analysed 129 seizures that occured during video-EEG monitoring in 13 patients with temporal lobe epilepsy (TLE) and in 9 patients with frontal lobe epilepsy (FLE) as well as neuroimaging studies. We compared first the clinical behaviours that occurred in frontal lobe seizures to those of temporal lobe seizures (second stage analysis). To eliminate clinical behaviours that could occur as the discharge propagated another lobe, we compared only clinical seizure events in which we had no evidence of spread to other regions, or that spread only to the homologous contralateral lobe (first stage analysis). The Fisher exact test was used for analysis. RESULTS: Although staring, sitting up, leg movement, and tonic-clonic movement, generalization occurred more frequently in FLE, and oral, alimentary and hand automatisms were more frequent in TLE, no statistically significant difference was found between the two groups. In second stage analysis, sitting up, tonic-clonic movement were seen only in FLE and oral, alimentary and hand automatisms only in TLE. Staring, hand posturing occurred more frequently in FLE. CONCLUSION: We therefore conclude that the reliability of clinical behaviour alone to predict the site of origin of an epileptic discharge is limited when the surface EEG is equivocal or neuroradiologic evidence of a focus is not clear.

Efficacy of Gabapentin Therapy in Refractory Seizure

BACKGROUND: It is known that 20% of childhood epilepsy is refractory to anticonvulsants therapy, Recently, a few new anticonvulsants has been introduced. One of these, gabapentin is known to effective in such refractory cases. This study has been done to estimate the effectiveness of gabapentin in refractory childhood as well as adult epilepsies. SUBJECTS AND METHODS: 43 patients(male 25, female 18) has been selected among refractory epilepsies during the period of March, 1981 to Feb, 1996 diagnosed and treated at pediatric neurologic clinic School of Medicine, Yonsei University Those were already treated with various anticonvulsants and gabapentin was added to previous medication, and effectiveness of seizure frequency and the degree has been investigated over more than 3 month period as well as the side effect. RESULTS: 30 patients out of 43, showed seizure free or decreased frequency of seizure, those patients whose the seizure frequency was decreased over 50% was 11 cases, partial seizure 10 cases, generalized seizure 1 cases. 15 case out of 43 showed no changes or increased frequencies of seizure in 4 out of 27 in partial epilepsies, 1 out of 16 in generalized seizure, and 6 cases out of 43 manifested side effects such as behaviour change, abdominal pain and headache. CONCLUSION: Gabapentin was effective by add on therapy in refractory epilepsies and reducing the frequency of seizure over 50% was 25.6%. Most of these patients was partial seizure. We concluded that gabapentin as add on therapy is effective at least in 1/4 cases of refractory partial seizures.

A Case of Relapsed Acute Disseminated Encephalomyelitis

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.

A Case of Cockayne Syndrome

Cockayne syndrome is a rare autosomal recessive disorder that results in postnatal growth failure and progressive neurological dysfunction. Associated clinical features are gait disturbance, progressive pigmentary retinopathy and other ocular anomalies such as cataracts and optic disk atrophy, sensorineural hearing loss, dental caries and cutaneous photosensitivity. The disease is clinically heterogeneous with a wide range in the type and severity of symptoms. We experienced a case of Cockayne syndrome in 13 year-old male, who had delayed development, hypophasia, characteristic physical appearance, cutaneous photosensitivity, dental caries. We reported the case with review of literatures.

A Case of Spontaneous Discitis in Child

The authors present a case of spontaneous discitis in a 1-year-old female who presented with fever and limping gait. The erythrocyte sediment rate was increased. The roentgenograms revealed normal appearnce, and radioactive bne scan showed increased uptake at the affected level. Discitis should be considered in any child with limping gait or leg pain, refusal to walk, or abdominal pain. Early recognition may avoid unnecessary diagnotic and treatment procedures.