A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1 / 소아과

X-linked adrenoleukodystrophy (X-ALD) is a rare peroxisomal disorder, that is rapidly progressive, neurodegenerative, and recessive, and characteristically primary affects the central nervous system white matter and the adrenal cortex. X-ALD is diagnosed basaed on clinical, radiological, and serological parameters, including elevated plasma levels of very long chain fatty acids (VLCFA), such as C24:0 and C26:0, and high C24:0/C22:0 and C26:0/C22:0 ratios. These tests are complemented with genetic analyses. A 7.5-year-old boy was admitted to Department of Pediatrics, Chungnam National University Hospital with progressive weakness of the bilateral lower extremities. Brain magnetic resonance imaging confirmed clinically suspected ALD. A low dose adrenocorticotropic hormone stimulation test revealed parital adrenal insufficiency. His fasting plasma levels of VLCFA showed that his C24:0/C22:0 and C26:0/C22:0 ratios were significantly elevated to 1.609 (normal, 0-1.390) and 0.075 (normal, 0-0.023), respectively. Genomic DNA was extracted from peripheral whole blood samples collected from the patient and his family. All exons of ABCD1 gene were amplified by polymerase chain reaction (PCR) using specific primers. Amplified PCR products were sequenced using the same primer pairs according to the manufacturer's instructions. We identified a missense mutation (p.Arg163Leu) in the ABCD1 gene of the proband caused by the nucleotide change 488G>T in exon 1. His asymptomatic mother carried the same mutation. We have reported an unpublished mutation in the ABCD1 gene in a patient with X-ALD, who showed increased ratio of C24:0/C22:0 and C26:0/C22:0, despite a normal VLCFA concentrations.

A Clinical Study of Pediatric Bacterial Meningitis in Daejeon and Chungcheong area : 2006-2010

PURPOSE: The aim of this study was to investigate the causative organisms, clinical manifestations, and prognosis of pediatric patients with bacterial meningitis in Daejeon and Chungcheong area, occurred from 2006 to 2010. METHODS: We retrospectively reviewed medical records of patients aged between 1 month and 15 years, diagnosed with bacterial meningitis at 8 university or general hospitals in Daejeon and Chungcheong area. The bacterial meningitis was defined by isolation of organism from cerebrospinal fluid(CSF). The data was collected from January 2006 to December 2010, and analyzed including patient's demographics, causative organisms, clinical presentation, laboratory findings and complications. RESULTS: During the 5-year study period, 24 patients were diagnosed with CSF culture-proven bacterial meningitis. The most common causative organism was Streptococcus pneumoniae (S. pneumoniae, 37.5%), and the others were group B streptococcus (GBS, 20.8%), Escherichia coli (E. coli, 16.7%), Neisseria meningitidis (N. meningitidis, 8.3%), Haemophilus influenzae (H. influenzae, 4.2%), respectively. They initially complained of fever (95.8%), vomiting (83.3%), anorexia (45.8%), seizure (29.2%), headache (20.8%). The leukocyte counts exceeding 1,000/mm3 in CSF was observed in 14 patients (58.3%). In 15 patients (62.5%), the glucose concentration in CSF was less than 50 mg/dL, 18 patients showed that the protein concentration in CSF was more than 100 mg/dL. Long-term neurologic sequelae were observed in 4 patients (16.7%) and described as hearing disturbance (2 patients), hemiparesis (1 patient) and endocrine dysfunction (1 patient). Ten patients (41.7%) showed abnormal neuroradiologic findings and the most common abnormalities was subdural effusion (25.0%). CONCLUSION: Compared to the previous study performed between 2001 and 2005, S. pneumonia continued to be the leading cause of the pediatric bacterial meningitis in Daejeon and Chungcheong area. The frequency of pneumococcal meningitis was not decreased, despite of the introduction of conjugated pneumococcal vaccination. On the other hand, H. influenzae meningitis was notably decreased.

Polymorphism of SCN1A and SCN2A Gene in Pediatric Refractory Epilepsy Patients / 대한간질학회지

PURPOSE: Epilepsy is a common chronic neurological disorder characterized by recurrent unprovoked seizures. While there have been many break throughs in development of antiepileptic medications, the cure for epilepsy still needs many answers, such as genetic aspects of the illness. Gene mutation may contribute to this situation. In this study, we have evaluated children with single nucleotide polymorphisms (SNP) of SCN1A c.3184 A-->G (rs2298771) and SCN2A c.56 G-->A (rs17183814) to analyze these genes were associated with refractory seizure. METHODS: Three hundreds and eleven children who visited the outpatient clinic in Chungnam National University Hospital, were retrospectively reviewed and, the data for their demographic profiles, clinical characteristics, and the results for SNP of SCN1A and SCN2A gene were collected. We divided them into three groups of control, response, and refractory groups. RESULTS: There was no statistical difference in demographic profiles of the patients. A variant of SCN2A c.56 G-->A polymorphism was associated with refractory seizure in pediatric patients with epilepsy (p=0.004; odds ratio 2.78, 95% confidence interval 1.39-5.56). CONCLUSIONS: SNP of SCN2A c.56 G-->A could be suggested as one of the causes of pediatric refractory epilepsy.

Polymorphism of SCN1A and SCN2A Gene in Pediatric Refractory Epilepsy Patients

PURPOSE: Epilepsy is a common chronic neurological disorder characterized by recurrent unprovoked seizures. While there have been many break throughs in development of antiepileptic medications, the cure for epilepsy still needs many answers, such as genetic aspects of the illness. Gene mutation may contribute to this situation. In this study, we have evaluated children with single nucleotide polymorphisms (SNP) of SCN1A c.3184 A-->G (rs2298771) and SCN2A c.56 G-->A (rs17183814) to analyze these genes were associated with refractory seizure.METHODS: Three hundreds and eleven children who visited the outpatient clinic in Chungnam National University Hospital, were retrospectively reviewed and, the data for their demographic profiles, clinical characteristics, and the results for SNP of SCN1A and SCN2A gene were collected. We divided them into three groups of control, response, and refractory groups.RESULTS: There was no statistical difference in demographic profiles of the patients. A variant of SCN2A c.56 G-->A polymorphism was associated with refractory seizure in pediatric patients with epilepsy (p=0.004; odds ratio 2.78, 95% confidence interval 1.39-5.56).CONCLUSIONS: SNP of SCN2A c.56 G-->A could be suggested as one of the causes of pediatric refractory epilepsy.

Association of Corpora Amylacea Formation with Astrocytes and Cerebrospinal Fluid in the Aged Human Brain / 체질인류학회지

Corpora amylacea (CA) are glycoproteinaceous inclusions that accumulate in the human brain during normal aging and neurodegenerative diseases. Although it has been suggested that the cellular sources of CA are neuronal or glial, the mechanisms underlying CA formation remain controversial. The aim of this study was to identify the source of CA in the human brain. Sample of the human brain tissues were obtained from the cadavers. H-E stain, periodic acid-Schiff (PAS) stain, and immunohistochemistry were performed in the brain tissues. Experimental induction of CA was also performed in rats. CA have been found in large numbers in the superficial, rather than in the deep, layer of the white matter in the lateral ventricle that is in contact with the cerebrospinal fluid (CSF) and sometimes near the blood vessels. Destroyed choroid plexi with psammoma bodies have been observed in the lateral ventricle of aged brains containing substantial numbers of CA. The cores of CA were mainly composed of amorphous PAS-positive materials, and glial fibrillary acidic protein-positive astrocytic processes were attached to the surface of the CA. Weak MAP2 was detected on a few CA in the gray matter such as dentate gyrus. PAS-positive CA were located on the border of the hippocampus contacting the CSF in the lateral ventricle in the cysteamine-induced CA animal model. Taken together, main cellular source of CA is astrocytes and CA core formation may be associated with CSF in the aged human brain.

Clinical and Laboratory Findings of Benign Acute Childhood Myositis

PURPOSE: Benign acute childhood myositis (BACM) is a rare condition, characterized by severe lower extremity pain and acute-onset reluctance to walk in children. This study evaluated the clinical course of and laboratory findings related to BACM. METHODS: Patients with gait disturbance who had visited the Department of Pediatrics, Chungnam National University Hospital between March 2010 and May 2010 and who had been diagnosed with BACM were enrolled. The patients' medical records were examined retrospectively, and the clinical and laboratory data were recorded. RESULTS: Seven patients (six boys and one girl) were enrolled. Their median age was 7.3 years old. Four patients had leucopenia and five had mild thrombocytopenia and six had elevation of serum aspartate aminotransferase or alanine aminotransferase levels, or both. The median serum creatine phosphokinase level was 1,864 IU/L, (range 368-7,166 IU/L). All patients had elevated lactate dehydrogenase and no patients studied had any evidence of bacterial infections. Influenza B virus was detected in two patients. and all patients spontaneously recovered after one week. CONCLUSION: Self-limited BACM should be considered if acute gait disturbances with calf pain and elevated serum creatine phosphokinase levels are observed in otherwise healthy children with no neurological abnormalities.

Associations of IGF-I, IGFBP-3 on early Catch-up Growth in Small for Gestational Age Infants / 대한주산의학회잡지

OBJECTIVE: This study was aimed to analyze the effect of Insulin-like growth factor (IGF)-I and Insulin-like growth factor binding protein (IGFBP)-3 on early catch-up growth in small for gestational age (SGA) infants. METHODS: We prospectively studied in 18 SGA infants who were admitted at Chungnam National University Hospital from January 2004 to January 2006. We divided them into two groups of intrauterine growth retardation; symmetric and asymmetric type. Maternal and neonatal characteristics and the value of IGF-1 and IGFBP-3 at birth were compared between the two groups. After 12 months later, we checked their body weight and height to evaluate catch-up growth. RESULTS: Among 18 SGA infants, 5 were male and 13 were female. Average gestational age at birth was 38.4+/-1.1 weeks. Average birth weight was 2,359+/-154 g. Nine babies showed symmetric intrauterine growth retardation. Thirteen babies achieved catch-up growth at 12 month of age. There was no correlation between the characteristics of SGA and catch-up growth. However, the IGF-I and IGFBP-3 values were significantly higher in babies who showed catch-up growth. CONCLUSION: We were able to predict catch-up growth at early infancy by evaluating serum IGF-I and IGFBP-3 values at birth in SGA infants.

Efficacy of levetiracetam in refractory childhood epilepsy / 소아과

PURPOSE: To evaluate the efficacy and safety of levetiracetam adjunctive therapy for reducing the rate of seizure frequency in children with intractable pediatric epilepsy. METHODS: We reviewed the medical records of 86 patients with intractable pediatric epilepsy who visited our hospital between March 1989 and February 2009. Levetiracetam was included in the previous anticonvulsant regimen for at least 6 months and the reduction in the rate of seizure frequency was determined in follow-up examinations. We analyzed demographic data, seizure types, antiepileptic drug history, levetiracetam dose, adverse effects of levetiracetam therapy, treatment outcome, electroencephalogram findings, etc. RESULTS: More than 50% reduction in the seizure frequency was observed in 62 of the 86 (72.1%) patients; 44 patients (51.1%) became seizure free, while the seizure frequency increased in 5.8% patients. The associations between seizure reduction rate and age, associated diseases, seizure types, and seizure frequency before treatment were not significant. However, the duration of disease, dose of levetiracetam, duration and frequency of anticonvulsant administration before levetiracetam therapy were significantly correlated. Electroencephalogram findings and the cause of epilepsy showed partial correlation. Forty (46%) patients showed adverse symptoms; the symptoms in the order of their frequency were somnolence, hyperactivity, irritability, aggressiveness, tiredness, etc. CONCLUSION: The findings of our study provide the evidence that levetiracetam adjunctive therapy is efficacious and well tolerated in various refractory childhood epilepsy cases.

A Case of Munchausen Syndrome by Proxy

Munchausen syndrome by proxy(MBP) is the act of one person fabricating or inducing an illness in another to meet his or her own emotional needs through the treatment process. MBP is thought to be rare. We report the case of 11-year-old girl who presented with general weakness, dizziness, headache, and nausea and she was suspected of Munchausen syndrome by proxy.

Speech Delay of Children with Mental Retardation

PURPOSE:The purposes of this paper are to analyse the degree of language delay according to the classification and the etiology of mental retardation and to assess the efficacy of language treatment in children who received language treatment. METHODS:The number of the subjects for the research is 79. The subjects had been diagnosed as children of mental retardation after a language development test from the language treatment center of the Chungnam National University Hospital from January, 2003 to December, 2007. We gathered the data concerning their main complaints, their etiology of mental retardation, their results of a language development test and an intelligence test, and their results of language treatment. RESULTS:The results of our analysis to the data are as follows: The distribution of mental retardation classified as mild, moderate, and severe is 51.9% of the subjects, 27.9% and 20.2% each. The etiology of mental retardation is distributed as postnatal(20.3%), prenatal(13.9%), prenatal(5.1%), and idiopathic(60.7%). According to the classification of mental retardation, receptive, expressive, and synthetic language show a significant difference. There is no significant difference in the etiology of mental retardation in statistics. Among 28 children taken a language test after language treatment, 14 mild mental retarded children made their language delay to be shortened by 19.9 months, 10 moderate mental retarded children made their language delay to be shortened by 7.2 months, and 4 severe mental retarded children reduced their language delay by 1.3 month. CONCLUSION:The more severe mental retardation is, the longer language delay occurred. But there is no significant difference to language delay according to the etiology of mental retardation. After language treatment, mild mental retarded children show the remarkable shortening of language delay, while moderate and severe mental retarded children are slightly shortening. Therefore, it is thought that more active language treatment is needed to mild mental retarded children.

Hyponatremia in Childhood Patients with Oxcarbazepine and Carbamazepine

PURPOSE: Long term oral medications of anticonvulsants are inevitable in pediatric epilepsy patients. Therefore special attention is needed for the complications caused by these medications. Hyponatremia is a well known complication of carbamazepine(CBZ) and oxcarbazepine(OXC), but researches in pediatric patients are rare. This is a study about the development of hyponatremia during the use of these two anticonvulsants in pediatric epilepsy patients and other factors also involved in it. METHODS: We studied serum sodium levels of 267 pediatric patients who were treated with either CBZ or OXC in our hospital from January 2003 to December 2006. Hyponatremia was defined as Na+<138 mEq. Moderate hyponatremia was defined as Na+<130 mEq. Factors thought to be involved in the development of hyponatremia were studied also. These included age, sex, EEG and radiologic test results, use of any other medications, etc. RESULTS: Among the 267 pediatric patients treated with CBZ or OXC, there were 18 cases (6.7%) of moderate hyponatremia and 28 cases(10.5%) of mild hyponatremia. Sex, age, type of seizure, EEG and radiologic test results did not affect the development of hyponatremia. But combination therapy with other anticonvulsants resulted in an increase of hyponatremia. CONCLUSION: We recommend that serum sodium levels should be checked regularly of the pediatric patients taking CBZ or OXC, especially patients treated with additional drugs (combination therapy).

Prognostic Factors of Developmental Delay in Premature Infants

PURPOSE: With advancement of neonatal intensive care since 1960's, the survival of prematurities and low birth weights has been improved. However, there is a high risk of poor growth, neurodevelopmental delay, deafness, and blindness. This study was aimed to the relationship of perinatal risk factors and neonatal complications with Bayley Scales of Infant Development II(BSID-II) scores in premature infants. METHODS: 127 infants admitted between January 2001 and December 2005, were studied at their mean corrected age of 12.1 months. Perinatal risk factors, neonatal complications and developmental outcomes were evaluated. The subjects were grouped by BSID-II scores: 42 infants with normal development[Mental Developmental Index(MDI) and Psychomotor Developmental Index(PDI)> or=85] in Group 1, and 85 with poor or abnormal outcomes(MDI or PDI<85) in Group 2. RESULTS: MDI and PDI in Groups 1 and 2 were 95.1+/-8.8 and 99.2+/-11.2 vs. 69.7+/-14.9 and 68.1+/-14.1, respectively. There were significant differences in gestational age, Apgar score at 5 minute, pH on ABGA at birth, and peak bilirubin levels between two groups. CONCLUSION: Gestational age, Apgar score at 5 minute, pH on ABGA at birth, and peak bilirubin levels would be risk factors for developmental delay in premature infants. However, further studies are needed.

A clinical study of child bacterial meningitis in Daejeon and Chungcheong area : 2001-2005 / 소아과

PURPOSE: The purpose of this study was to analyze the epidemiology, causative organism, clinical manifestation and prognosis of bacterial meningitis for children after the introduction of Haemophilus influenzae type b (Hib) vaccine in Daejeon and Chungcheong area. METHODS: We analyzed retrospectively 53 medical records who had been diagnosed with bacterial meningitis at 10 general or university hospitals in Daejeon and Chungcheong area. All patients aged 1 month-14 years admitted between January 2001 through December 2005. RESULTS: During the 5-year study period, 40 of all cases were positive for bacterial growth. Of the 40 cases that were CSF culture-proven bacterial meningitis, Streptococcus peumoniae was the most common bacteria for 17 (32.1%) of all cases, followed by H. influenzae for 10 (18.9%), Neisseria meningitidis for 3 (5.7%). In this study, the most common clinical manifestation is fever, accompanied by all cases. CSF leukocyte count was more than 100/mm3 in 45 (84.1%) cases. CSF glucose concentration was less than 50 mg/dL in 42 (79.2%) cases and protein concentration was more than 45 mg/ dL in 49 (92.5%) cases. 45 of all cases made a recovery after treatment and were discharged. Most common complication after treatment is subdural effusion (19.0%) and hearing disturbance (9.4%). CONCLUSION: The most common organism of culture-proven bacterial meningitis in the children beyond neonatal period was S. pneumoniae. Continued surveillance studies were demanded to know the altered incidence of bacterial meningitis, because we expect the incidence of S. pneumoniae meninigitis will be on the decrease after more active innoculation of pneumococcal protein conjugate vaccine.

A Case of a Splenic Hamartoma in Tuberous Sclerosis

Tuberous sclerosis is a neurocutaneous syndrome with autosomal dominant inheritance with variable penetrances and the incidence is approximately one in 10,000 live births. It is described as a clinical triad of mental retardation, seizures and adenoma sebaceum. Tuberous sclerosis is characterized by the development of hamartomas and benign neoplasms involving the brain and other organs. Typical lesions include cortical tubers and subependymal hamartomas in the brain, rhabdomyomas in the heart, angiofibromas and periungual fibromas of the skin and angiomyolipomas in the kidney. A splenic hamartoma is a rare benign lesion. Only about 100 cases have been reported since its first description by Rokitansky in 1861. We report a case of child with a splenic hamartoma associated with tuberous sclerosis.

A Scoring System to Predict the Outcomes in Neonatal Seizures

PURPOSE: This study was designed to compare the follow up results with clinical and laboratory findings in patients with seizures in the neonatal period. Also, it was aimed to evaluate the usefulness of scoring prognostic factors and its efficacy as a prognostic index. METHODS: The subjects are 67 neonates who were admitted to Chungnam National University Hospital from January 1999 to April 2005 for seizures which occurred within 28 days of birth. These patients were investigated retrospectively from the hospital records. We scored clinical manifestations including gestational age, birth weight, Apgar score at 5 min, etiology, type, onset, duration, and frequency of seizures, neurologic examination results, EEG background activities, and treatment responses. Follow-up examinations were done to analyze the presence of epilepsy and neurologic deficits. A sum of the factors associated with outcomes regarded as a prognostic index, were studied. RESULTS: 50 cases(74.6%) showed normal outcomes, while 7 cases(10.4%) had unfavorable neurologic outcomes and 4 cases(6.0%) favorable neurologic outcomes with epilepsy. 6 cases(9.0%) showed unfavorable neurologic outcomes with epilepsy. All of the data including gestational age, Apgar score at 5 min, etiology, type, duration, and frequency of seizures, neurologic examination results, EEG background activities, and treatment responses were used as a prognostic index by a scoring system. When the cut-off point was 7, sensitivity, specificity, positive predictive value and negative predictive value were 76.5%, 78.0%, 54.2%, and 90.7% respectively. CONCLUSION: A scoring system for neonatal seizures earned high scores in sensitivity, specificity and negative predictive value, so that it seems to be useful as a predicitive prognostic index.

Traumatic Brain Injury in Childhood

PURPOSE: This study was undertaken to investigate the traumatic brain injury(TBI) in childhood and to identify factors related with its prognosis. METHODS: The medical records of 256 children with traumatic brain injury were analyzed retrospectively, who were treated in Chungnam National University Hospital for more than 6 years from January, 1998 to December, 2003. Outcomes were classified by age, sex, cause, Glasgow Coma Scale(GCS), Glasgow Outcome Scale(GOS), sequelae and so forth. RESULTS: A total of 256 patients were identified. The male to female ratio was 1.9:1. The main cause of TBI was traffic accidents(67.1%), followed by falls(25.8%). The outcomes of TBI were determined by GOS, in which death occurred in 16 cases(6.2%), severe disabilities in 11 cases(4.3%), moderate disabilities in 24 cases(9.4%), and good recoveries in 205 cases(80.1%). Poor prognostic factors were low GCS, post-traumatic early seizure, high blood glucose levels and abnormal pupil reflexes(P<0.05). The sequelae of TBI were quadriparesis(3.5%), learning disability(3%), mental retardation(2.3%), hemiparesis(1.6%) and others. CONCLUSION: This study suggest that it is possible to predict poor outcomes of TBI children by assessing the clinical manifestations. A long term follow-up of seizures and other sequelae is essential to TBI children who have poor prognosis.

Acute Torsion of a Wandering Spleen Managed by Splenopexy / 대한혈액학회지

Torsion of the spleen is a rare cause of abdominal pain in children and it may occur in conjunction with wandering spleen. Wandering spleen is the presence of the spleen in a location other than the left upper quadrant, and it is secondary to the congenital or functional absence of splenic ligaments. The occurrence of wandering spleen is rare in adults and it's even less common in children. The most common presentation is acute abdominal pain, although the signs and symptoms vary widely. Due to the risk of splenic infarction, making a rapid and accurate diagnosis is essential. When a wandering spleen is diagnosed, the treatment of choice is splenopexy, even if the patient is asymptomatic. If splenic necrosis is present, then splenectomy is usually required. We describe here a 4-year-old girl with torsion of a wandering spleen that was managed by splenopexy.

The Effect of Anticonvulsants on Serum Copper and Zinc Concentrations / 소아과

PURPOSE: Anticonvulsants have a number of side effects and some of them may be attributed to a disturbance of serum trace metal homeostasis. Although they are minor building components in tissues, they play important functional roles in the peripheral and central nervous system. We measured serum copper and zinc levels in epileptic children who were treated with anticonvulsants to know the effects of anticonvulsants on serum copper and zinc levels. METHODS: Serum copper and zinc levels were determined in 64 epileptic patients receiving anticonvulsant therapy in Chungnam National University Hospital, and in 20 normal controls. Sixty-four epileptic patients were divided into three groups:16 patients who were treated with valproic acid monotherapy; 26 patients who were treated with valproic acid in addition to other anticonvulsants; and 22 patients who were treated with anticonvulsants except for valporic acid. RESULTS: All patients receiving anticonvulsants had significantly lower serum copper levels(80.21+/-19.42 microgram/dL) in comparison to the normal controls(102.12+/-32.8 microgram/dL). Serum zinc levels in patients receiving anticonvulsants(79.78+/-21.88 microgram/dL) were not statistically different from those of controls (85.26+/-29.81 microgram/dL). There were no significant difference of serum copper and zinc levels among the three groups. CONCLUSION: In this study, we clearly showed that anticonvulsants decreased serum copper levels. Although we did not observe any clinical findings related to copper deficiency, we should pay attention to potent copper deficiency in patients with anticonvulsant treatment.

Brain Magnetic Resonance Imaging in Children with CNS Manifestations

PURPOSE: This study is to examine the relationship between clinical manifestations and MRI findings of children with CNS symptoms and signs. METHODS: A total of 447 inpatients with CNS symptoms and signs took brain MRI's at the Department of Pediatrics of Chungnam National University Hospital from July 2001 to June 2004. The results were retrospectively evaluated in terms of age, gender, chief complaints, and the findings of MRI and EEG based on the medical records. RESULTS: The overall incidence of abnormal MRI findings was 30.4%, of whom 44.7% were aged from one month to one year. The MRI findings were markedly different between under and over 6 years olds. In the former group, hydrocephalus, periventricular leukomalacia and hemorrhage were common while vascular malformation and brain tumor were more common in the latter group. Periventricular leukomalacia and hydrocephalus were shown to be the most frequent abnormal findings. 42.9% of those with seizures had abnormal MRI findings. Headache was common with 10.5% low incidence rate of abnormalies in MRI. The EEG findings were normal in 33.9% of the patients and there were not any articular correlations between EEG and MRI findings. CONCLUSION: MRI is important in the diagnosis of neurological disorders. However, caution should be taken in selecting patients since the MRI findings were normal in 69.6 % of the children with CNS symptoms and signs. This is the reason why more detailed standards of MRI for CNS manifestations are required.

Changes of Neuropathic Pain in nNOS Knock-out Mice / 체질인류학회지

Changes in nitric oxide production in spinal cord or dorsal root ganglion have been known to contribute to allodynia after nerve injury. However, regulation of nNOS expression was also reported not to be responsible for the development and/or maintenance of neuropathic allodynia. The aim of this study was to elucidate role of nNOS expression in the sensory nervous system in neuropathic pain. Von Frey and acetone tests were performed in a model of peripheral neuropathy, ligation of 5th lumbar and 6th lumbar spinal nerves, in wild type and nNOS (-/-) mice. The effect of nNOS inhibitor was evaluated in neuropathic pain behavior in the mice. Mechanical allodynia was slightly reduced in nNOS (-/-) mice compared with wild type mice after peripheral neuropathy. nNOS inhibitor, L-NAME, reduced minimally mechanical allodynia, not cold allodynia, but gabapentin reduced remarkably neuropathic pain behavior (mechanical and cold allodynia) in both wild type and nNOS (-/-) mice. These results suggested that nNOS expression in the sensory nervous system may be partially associated with development and/or maintenance of mechanical allodynia in a mouse model of peripheral neuropathy.