Search

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronically progressive or relapsing symmetric sensorimotor disorder presumed to occur because of immunologic antibody-mediated reactions. To understand the clinical courses of CIDP, we report variable CIDP courses in children with respect to initial presentation, responsiveness to medical treatment, and recurrence interval. Four patients who were diagnosed with acute-onset and relapsing CIDP courses at Severance Children's Hospital, Seoul, Korea, were enrolled in this retrospective study. We diagnosed each patient on the basis of the CIDP diagnostic criteria developed in 2010 by the European Federation of Neurological Societies/Peripheral Nerve Society Guidelines. We present the cases of four pediatric patients diagnosed with CIDP to understand the variable clinical course of the disease in children. Our four patients were all between 8 and 12 years of age. Patients 1 and 2 were diagnosed with acute cerebellar ataxia or Guillain-Barré syndrome as initial symptoms. While patients 1 and 4 were given only intravenous dexamethasone (0.3 mg/kg/day) for 5 days at the first episode, Patients 2 and 3 were given a combination of intravenous immunoglobulin (2 g/kg) and dexamethasone (0.3 mg/kg/day). All patients were maintained with oral prednisolone at 30 mg/day, but their clinical courses were variable in both relapse intervals and severity. We experienced variable clinical courses of CIDP in children with respect to initial presentation, responsiveness to medical treatment, and recurrence interval.

Wernicke's encephalopathy is an acute neurological disorder characterized by mental confusion, oculomotor dysfunction, and ataxia. It has been reported in individuals with alcohol dependence, hyperemesis gravidarum, and prolonged parenteral nutrition without vitamin supplementation. Here we present the case of a 13-year-old male patient with neuroblastoma and a history of poor oral intake and nausea for 3 months. After admission, he showed gait disturbances, nystagmus, and excessive dizziness; his mental state, however, indicated he was alert, which did not fit the classical triad of Wernicke's encephalopathy. A diagnosis of Wernicke's encephalopathy was made only after brain magnetic resonance imaging and serum thiamine level analyses were performed. The patient's symptoms remained after 5 days of treatment with 100-mg thiamine once daily; thus, we increased the dosage to 500 mg 3 times daily, 1,500 mg per day. His symptoms then improved after 20 days of replacement therapy. This case report describes a pediatric patient who was promptly diagnosed with Wernicke's encephalopathy, despite only 2 suspicious symptoms, and who completely recovered after high doses of thiamine were given intravenously.

Purpose The aim of this study was to investigate the natural history of epilepsy and response to anti-epileptic drug treatment in patients with Angelman syndrome (AS) in Korea. Methods We retrospectively reviewed the clinical records of 14 patients diagnosed with epilepsy out of a total of 17 patients with a genetic diagnosis of AS. These patients were seen at the Department of Pediatric Neurology at Severance Children's Hospital from March 2005 to March 2011. Results Fourteen (9 males and 5 females) subjects (82.3%) were diagnosed with epilepsy in AS. The most common seizure types were generalized tonic-clonic (n=9, 27%) and myoclonic (n=9, 27%), followed by atonic (n=8, 24%), atypical absence (n=4, 12%) and complex partial seizure (n=3, 9%). The most commonly prescribed antiepileptic drug (AED) was valproic acid (VPA, n=12, 86%), followed by lamotrigine (LTG, n=9, 64%), and topiramate (n=8, 57%). According to questionnaires that determined whether each AED was efficacious or not, VPA had the highest response rate and LTG was associated with the highest rate of seizure exacerbation. Complete control of seizures was achieved in 6 patients. Partial control was achieved in 7 patients, while one patient was not controlled. Conclusion Epilepsy is observed in the great majority of AS patients. It may have early onset and is often refractory to treatment. There are few reports about epilepsy in AS in Korea. This study will be helpful in understanding epilepsy in AS in Korea.

Purpose: The purpose of this study was to investigate the importance of initial screening tests for depression and anxiety disorders in children with headache. In addition, this study evaluated whether the Children's Depression Inventory (CDI) and Revised Children's Manifest Anxiety Scale (RCMAS) are suitable for screening symptoms of depression and anxiety. Methods: A retrospective chart review was conducted of 720 children aged 7-17 years who had visited a pediatric neurology clinic for headaches and were referred to a pediatric psychiatric clinic for psychiatric symptoms from January 2010 to December 2011. All patients completed the CDI and RCMAS. Among them, charts of patients with clinically significant total scores (cutoff>15) for psychiatric symptoms, as defined by the CDI and RCMAS scoring scales, were reviewed. Results: Nineteen patients had headaches and clinically significant total scores for psychiatric symptoms. The mean age at headache diagnosis was 11.7 years, and 57% were male. Mean duration of headache was 11.5 months. Two point eight percent of the patients were diagnosed with psychiatric disorders including major depression (1.7%), generalized anxiety disorder (1.1%), and bipolar disorder (0.1%). Four patients (0.6%) were diagnosed with attention deficit/hyperactivity disorder (ADHD). Total mean CDI and RCMAS scores of patients referred to the psychiatric clinic were 18.8 and 22.2, respectively. There was no correlation between CDI or RCMAS total scores and headache frequency, duration, or severity. Conclusion: We recommend that all patients with headache should be screened for depression and anxiety by CDI and RCMAS scores.

Purpose Mitochondrial disease (MD) and Duchenne muscular dystrophy (DMD) are often associated with cardiomyopathy, but the myocardial variability has not been isolated to a specific characteristic. We evaluated the left ventricular (LV) mass by echocardiography to identify the general distribution and functional changes of the myocardium in patients with MD or DMD. Methods We retrospectively evaluated the echocardiographic data of 90 children with MD and 42 with DMD. Using two-dimensional echocardiography, including time-motion (M) mode and Doppler measurements, we estimated the LV mass, ratio of early to late mitral filling velocities (E/A), ratio of early mitral filling velocity to early diastolic mitral annular velocity (E/Ea), stroke volume, and cardiac output. A "z score" was generated using the lambda-mu-sigma method to standardize the LV mass with respect to body size. Results The LV mass-for-height z scores were significantly below normal in children with MD (-1.02±1.52, P

Purpose: To evaluate myocardial conductivity to understand cardiac involvement in patients with mitochondrial disease. Methods: We performed retrospective study on fifty-seven nonspecific mitochondrial encephalopathy patients with no clinical cardiac manifestations. The patients were diagnosed with mitochondrial respiratory chain complex defects through biochemical enzyme assays of muscle tissue. We performed standard 12-lead electrocardiography (ECG) on all patients. Results: ECG abnormalities were observed in 30 patients (52.6%). Prolongation of the QTc interval (>440 ms) was seen in 19 patients (33.3%), widening of the corrected QRS interval in 15 (26.3%), and bundle branch block in four (7.0%). Atrioventricular block, premature atrial contraction and premature ventricular contraction were seen in two patients each (3.5%) and Wolff-Parkinson-White syndrome in one patient (1.8%). Conclusion: Given this finding, we recommend active screening with ECG in patients with mitochondrial disease even in patients without obvious cardiac manifestation.

Parry-Romberg syndrome (PRS) is a rare, acquired disorder characterized by progressive unilateral facial atrophy of the skin, soft tissue, muscles, and underlying bony structures that may be preceded by cutaneous induration. It is sometimes accompanied by ipsilateral brain lesions and neurological symptoms. Here we present the case of a 10-year-old girl with right-sided PRS and recurrent monoplegic ataxia of the left leg. At 4 years of age, she presented with localized scleroderma over the right parietal region of her scalp; her face gradually became asymmetric as her right cheek atrophied. Brain magnetic resonance imaging revealed hemiatrophy of the face and skull base, and T2-weighted images showed increased signal in the right hemipons and hemicerebellar peduncle. Magnetic resonance angiography findings were unremarkable. She was treated with oral prednisolone, and her recurrent gait ataxia diminished within 2 months of the follow-up period. To the best of our knowledge, this is only the second case of PRS presenting with an abnormal involvement of the ipsilateral hemipons.

PURPOSE: The widespread introduction of bacterial conjugate vaccines has decreased the risk of cerebrospinal fluid (CSF) pleocytosis due to bacterial meningitis (BM) in children. However, most patients with CSF pleocytosis are hospitalized and treated with parenteral antibiotics for several days. The bacterial meningitis score (BMS) is a validated multivariate model derived from a pediatric population in the postconjugate vaccine era and has been evaluated in several studies. In the present study, we examined the usefulness of BMS in South Korean patients. METHODS: This study included 1,063 patients with CSF pleocytosis aged between 2 months and 18 years. The BMS was calculated for all patients, and the sensitivity and negative predictive value (NPV) of the test were evaluated. RESULTS: Of 1,063 patients, 1,059 (99.6%) had aseptic meningitis (AM). Only four patients (0.4%) had BM. The majority of patients (98%) had a BMS of ≤1, indicating a diagnosis of AM. The BMS was 0 in 635 patients (60%) and 1 in 405 patients (38%). All four BM patients had a BMS of ≥4. CONCLUSION: To our knowledge, this is the first study to investigate the diagnostic strength of the BMS in South Korea. In our study, the BMS showed 100% sensitivity and 100% NPV. Therefore, we believe that the BMS is a good clinical prediction rule to identify children with CSF pleocytosis who are at a risk of BM.

Congenital muscular dystrophy type 1A (MDC1A) is an autosomal recessive disorder characterized by hypotonia, elevated serum creatine kinase level, delayed motor milestones, white matter changes observed by brain magnetic resonance imaging, and normal intelligence. A mutation in the laminin α2 (LAMA2) gene, located at 6q22-23, is a genetic cause of MDC1A. Patients have merosin (laminin α2)-deficient skeletal muscles. However, the degree of merosin expression ranges from total absence to partial reduction. Patients with residual merosin expression have more variable and milder phenotypes than those with absolute merosin deficiency. We observed a Korean girl with MDC1A with residual merosin expression. Clinical presentation of this patient was typical except for late onset of the disease and external capsule involvement. Immunohistochemical staining of muscle fibers including merosin, is important to evaluate patients with hypotonia, delayed motor development, and abnormal white matter changes.

The ketogenic diet (KD) is an established, effective, nonpharmacologic treatment for children with pharmacoresistant epilepsy. Although the KD is the most well-established dietary therapy for epilepsy, it is too restrictive and is associated with serious complications; therefore, alternative lower-fat diets, including a modified Atkins diet and low-glycemic index diet, have been developed. Recent ongoing clinical evidence suggests that other dietary therapies have an efficacy almost comparable to that of the KD. In addition, a diet rich in polyunsaturated fatty acids appears to increase the efficacy of diet therapy and reduce the complications of a high-fat diet. Here, we review the systematic information about lower-fat diets and better-quality dietary therapies and the current clinical status of each of these dietary approaches.

Purpose Mitochondrial dysfunction can present with various symptoms depending on the organ it has affected. This research tried to analyze the ophthalmologic symptoms and ophthalmologic examination (OE) results in patients with mitochondrial disease (MD). Methods Seventy-four patients diagnosed with mitochondrial respiratory chain complex defect with biochemical enzyme assay were included in the study. They were divided into 2 groups based on the OE results by funduscopy and were analyzed on the basis of their clinical features, biochemical test results, morphological analysis, and neuroimaging findings. Results Thirty-seven (50%) of the 74 MD patients developed ophthalmologic symptoms. Abnormal findings were observed in 36 (48.6%) patients during an OE, and 16 (21.6%) of them had no ocular symptoms. Significantly higher rates of prematurity, clinical history of epilepsy or frequent apnea events, abnormal light microscopic findings in muscle pathology, diffuse cerebral atrophy in magnetic resonance imaging, and brainstem hyperintensity and lactate peaks in magnetic resonance spectroscopy were noted in the group with abnormal OE results. Conclusion Although the ophthalmologic symptoms are not very remarkable in MD patients, an OE is required. When the risk factors mentioned above are observed, a more active approach should be taken in the OE because a higher frequency of ocular involvement can be expected.

= Abstract = Trichobezoar is characterized by the accumulation of hair in the gastrointestinal tract and usually occurs in those who have trichotillomania, other psychiatric disorders, or neurologic problems. Trichobezoar typically presents as gastric obstruction, including abdominal pain, vomiting, anorexia, and weight loss. A 9-year-old girl visited our clinic with the complaint of abdominal discomfort and vomiting. A review of her medical history revealed that she had trichophagia since the age of 5, and she felt that her parents had been strict with her. She underwent gastrotomy, during which a large trichobezoar was removed. This case highlights the importance of psychiatric and comprehensive approaches in patients with trichobezoar. (Korean J Pediatr 2009;52:1167-1170) The most common presenting symptoms of trichobezoar include palpable abdominal mass, vomiting and noticeable hair loss. The methods in the history taking, which revealed a possibility of the trichotillomania and trichobezoar by looking into a sense of the uneasiness and the relationship between their parents, or brothers, and sisters, will be greatly required to the patients those who suffer abdo- minal pain and psychopathic disease. Furthermore, if a patient presents with gastointestinal symptoms, abdominal palpation must be performed during physical examination. Five to 18% of the patients with trichotillomania ingest

Purpose : We investigated whether ictal single-photon emission computed tomography (SPECT) with prolonged injection of technetium-99m (99mTc) ethyl cysteinate dimer during repeated spasms can localize the epileptogenic foci in children with infantile spasms. Methods : Fourteen children with infantile spasms (11 boys, 3 girls; mean age, 2.21.3 years) were examined. When a cluster of spasms was detected during video electroencephalography (EEG) monitoring, 99mTc ethyl cysteinate dimer was slowly and continuously injected for 2 minutes to determine the presence of ictal SPECT. For 7 children, the ictal and interictal SPECT images were visually analyzed, while for the remaining 7 children, the SPECT images were analyzed using the subtraction ictal SPECT coregistered to magnetic resonance imaging (MRI) (SISCOM) technique. Subsequently, we analyzed the association between the ictal SPECT findings and those of other diagnostic modalities such as EEG, MRI, and positron emission tomography (PET). Results : Increase in cerebral blood flow on ictal SPECT involved the epileptogenic foci in 10 cases6 cases analyzed by visual assessment and 4 analyzed by the SISCOM technique. The ictal SPECT and video-EEG findings showed moderate agreement (Kappa=0.57; 95% confidence interval, 0.18-0.96). Conclusion : Ictal SPECT with prolonged injection of a tracer could provide supplementary information to localize the epileptogenic foci in infantile spasms.

Purpose : We performed EEG and PET on children with epilepsy concomitantly in order to evaluate the effects of epileptiform and non-epileptiform discharge of EEG on glucose metabolism. Methods : Seventy three children with epilepsy who had PET and EEG simultaneously were included in our study. The subjects were classified in two ways: (1) based on the frequency of epileptiform discharge and (2) the severity of non- epileptiform discharge. We evaluated the clinical aspects of their seizures, the severity of focal slow waves during the interictal period with the frequency of spikes or sharp waves in order to compare with the PET results. Results : The subjects were divided by the frequency of epileptiform discharge, with 13 in the no/rare group, 7 in the occasional group, and 53 children in the frequent group. The concordant rates with PET in each group were 0%, 42.9%, and 67.9%, respectively, showing high correlations with the frequency of epileptiform discharge (P

Niemann-Pick disease is a group of autosomal recessive disorders associated with hepatosplenomegaly, variable neurologic deficits, and the storage of sphingomyelin and other lipids. Seven cases have been reported in Korea. We report an additional case presenting with hypotonia, early neurodevelopmental delay, hepatosplenomegaly and death by persistent pneumonia and asphyxia at the age of 23 months. MRI of brain and fundoscopic findings of our case at 4 months of age were normal. However, abnormal intensity of the thalamus and atrophy of the right temporal lobe on the MRI and macular cherry red spots were noticed at the age of 17 months. A bone marrow biopsy showed large foamy cells, while hexosaminidase A and B levels were normal. Although biochemical or molecular workup was not done, these findings led to the diagnosis of infantile onset Niemann-Pick disease, probably type A. A brief review of the related literatures was made

Purpose:Malformation of cortical development(MCD) constitutes an important etiology of intractable epilepsy and is considered an indication for surgical treatments, though their efficacy is limited and variable depending on MCD's location or distribution. Ketogenic diets are widely known to be effective, but as little study has been made concerning their efficacy on epilepsy with MCD, we evaluated the efficacy of ketogenic diets on MCD patients compared with that of epileptic surgery, which is more invasive. Methods:We performed retrospective studies and analyse on 30 patients with MCD diagnosed by brain MRI and treated with ketogenic diets for intractable epilepsy since 1998, checking decreases in their seizure episodes after starting the diets. Results:Cortical dysplasia was observed in 24(80.0 percent) patients as the most common type of MCD. Also, MCD was observed in unilateral hemisphere most commonly, in 23(76.7 percent) patients; it was observed in both hemispheres in 7(23.3 percent) patients. Nine(30.0 percent) out of 30 patients became seizure-free after starting ketogenic diets, and 14(46.7 percent) patients experienced 50 percent seizure reductions as well. Age of starting the diet or the duration of epilepsy period before starting showed no statistical relationship with the efficacy of the diet. Though the younger the patient and the longer the treatment the more effective the diet seemed to be, there was no statistical correlation between them. The location of MCD showed no significance neither. Conclusion:Considering various limits and invasiveness of surgical treatment, a ketogenic diet could be a good tool in treating children with intractable epilepsy with MCD.