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1.
Brain Dev ; 46(1): 10-17, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37884431

RESUMO

BACKGROUND: Adenovirus is a major pathogen causing febrile illness among children. It may also cause acute encephalitis/encephalopathy. This study aimed to elucidate the clinical features of adenovirus-associated encephalitis/encephalopathy (AdVE) among children in Japan. METHODS: A nationwide survey of children with AdVE was conducted. An initial survey was distributed among pediatricians to obtain information about children with AdVE treated between January 2014 and March 2019. A second survey was used to obtain the clinical information of children with AdVE from hospitals that responded to the initial survey and those identified from a literature search of the reported cases. We collected demographic data and information about symptoms of infection, neurological symptoms, laboratory parameters, treatment, and outcomes. Outcomes were determined using the Pediatric Cerebral Performance Category Score. RESULTS: Clinical information was available for 23 children with a median age of 39 months. Two had preexisting neurological disorders and six had a history of febrile seizures. The outcome was good in 15 patients and poor in eight patients. Serum lactate dehydrogenase, glucose, and ammonia levels were higher among children with a poor outcome compared to those with a good outcome. Clinically mild encephalitis/encephalopathy with a reversible splenial lesion was the most common type (n = 8), followed by acute encephalopathy with biphasic seizures and late reduced diffusion (n = 7). CONCLUSION: A prior history of febrile seizures was frequent in children with AdVE. Several different subtypes of acute encephalopathy were seen in children with AdVE, and the outcome was poor in those with acute encephalopathy with biphasic seizures and late reduced diffusion and hemorrhagic shock and encephalopathy syndrome. Elevated lactate dehydrogenase, glucose, and ammonia levels on admission were found to correlate with a poor outcome.


Assuntos
Encefalopatias , Encefalite Viral , Encefalite , Convulsões Febris , Criança , Humanos , Lactente , Pré-Escolar , Japão/epidemiologia , Amônia , Glucose 1-Desidrogenase , Encefalite/complicações , Encefalite/diagnóstico , Adenoviridae , Lactatos
2.
Eur J Med Genet ; 66(12): 104882, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37944854

RESUMO

High-throughput sequencing has identified vast numbers of variants in genetic disorders. However, the significance of variants at the exon-intron junction remains controversial. Even though most cases of Mowat-Wilson syndrome (MOWS) are caused by heterozygous loss-of-function variants in ZEB2, the pathogenicity of variants at exon-intron junction is often indeterminable. We identified four intronic variants in 5/173 patients with clinical suspicion for MOWS, and evaluated their pathogenicity by in vitro analyses. The minigene analysis showed that c.73+2T>G caused most of the transcripts skipping exon 2, while c.916+6T>G led to partial skipping of exon 7. No splicing abnormalities were detected in both c.917-21T>C and c.3067+6A>T. The minigene analysis reproduced the splicing observed in the blood cells of the patient with c.73+2T>G. The degree of the exon skipping was concordant with the severity of MOWS; while the patient with c.73+2T>G was typical MOWS, the patient with c.916+6T>G showed milder phenotype which has been seldom reported. Our results demonstrate that mRNA splicing assays using the minigenes are valuable for determining the clinical significance of intronic variants in patients with not only MOWS but also other genetic diseases with splicing aberrations and may explain atypical or milder cases, such as the current patient.


Assuntos
Splicing de RNA , Humanos , Íntrons , Virulência , Éxons
3.
Hum Genome Var ; 9(1): 24, 2022 Jun 10.
Artigo em Inglês | MEDLINE | ID: mdl-35688819

RESUMO

A 2-day-old neonate presented with seizures, multiple intracranial hemorrhages, and bilateral congenital cataracts. Targeted next-generation sequencing of the collagen type IV alpha 1 chain (COL4A1) gene revealed a heterozygous de novo missense variant (NM_001845.6:c.2291G>A/p.Gly764Asp). This missense variant adds to the compendium of COL4A1 variants and is associated with a COL4A1-related disorder.

4.
Brain Dev ; 41(3): 263-270, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30798941

RESUMO

BACKGROUND: Norovirus is a major pathogen of gastroenteritis and is known to cause encephalitis/encephalopathy. The aim of this national survey was to clarify the clinical features of norovirus-associated encephalitis/encephalopathy (NoVE) among children in Japan. METHODS: A nationwide survey of children with NoVE was conducted using a structured research form. The initial survey asked pediatricians about children with NoVE treated between January 2011 and March 2016. The second survey obtained patient information from two sources: hospitals that responded to the initial survey and those identified as having treated cases from a literature search. RESULTS: Clinical information was available for 29 children. Their median age was 2 y 8 m. The outcome was good in 13 patients and poor in 15. The interval between the onset of gastrointestinal symptoms and that of encephalitis/encephalopathy was significantly shorter in those with a poor outcome. At the onset of an elevated serum creatinine level and an abnormal blood glucose level were correlated with a poor outcome. Regarding the subtypes of encephalitis/encephalopathy, acute encephalopathy with biphasic seizures and late reduced diffusion and hemorrhagic shock and encephalopathy syndrome were frequent. CONCLUSION: The outcome of children with NoVE was poor. Early onset of neurological symptoms, an elevated serum creatinine level, and an abnormal blood glucose level were associated with a poor outcome. No effective treatment was identified and this should be the subject of future studies.


Assuntos
Infecções por Caliciviridae/complicações , Infecções por Caliciviridae/epidemiologia , Encefalite Viral/epidemiologia , Encefalite Viral/etiologia , Adolescente , Encéfalo/diagnóstico por imagem , Encéfalo/virologia , Infecções por Caliciviridae/diagnóstico por imagem , Criança , Pré-Escolar , Encefalite Viral/diagnóstico por imagem , Feminino , Humanos , Lactente , Japão/epidemiologia , Imageamento por Ressonância Magnética , Masculino , Estudos Retrospectivos , Inquéritos e Questionários
5.
Brain Dev ; 39(4): 356-360, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27856098

RESUMO

The outcome of mild encephalitis/encephalopathy with reversible splenial lesion (MERS) is favorable whether or not specific treatment is performed. We report a patient with MERS treated with methylprednisolone, complicated by gastric perforation followed by critical illness polyneuropathy. The patient was a 14-year-old male with mildly impaired consciousness and hyponatremia who was treated with methylprednisolone pulse therapy. High fever appeared after methylprednisolone pulse therapy and free air was recognized on an abdomen roentgenogram. Gastric perforation was recognized on emergent endoscopic surgery and omental implantation repair was performed. His consciousness was fully recovered after surgery, whereas he was noted to have motor and sensory impairment of the lower extremities and vesico-rectal disturbance. Nerve conduction studies revealed decreased compound muscle action potentials with preserved motor conduction velocity and decreased sensory nerve action potentials. He was diagnosed as having critical illness polyneuropathy, and bedside physical rehabilitation was initiated. His neurological symptoms resolved within 6months. Our patient highlighted possible serious adverse events associated with steroid treatment for children with MERS.


Assuntos
Encefalite/tratamento farmacológico , Metilprednisolona/efeitos adversos , Polineuropatias/etiologia , Esteroides/efeitos adversos , Ruptura Gástrica/etiologia , Adolescente , Encéfalo/diagnóstico por imagem , Encefalite/diagnóstico por imagem , Encefalite/fisiopatologia , Encefalite/reabilitação , Humanos , Masculino , Metilprednisolona/uso terapêutico , Polineuropatias/fisiopatologia , Polineuropatias/reabilitação , Esteroides/uso terapêutico , Estômago/diagnóstico por imagem , Estômago/cirurgia , Ruptura Gástrica/fisiopatologia , Ruptura Gástrica/reabilitação , Ruptura Gástrica/cirurgia
6.
Pediatr Int ; 59(2): 185-189, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-27468704

RESUMO

BACKGROUND: We compared knowledge about and attitudes toward epilepsy and the issuing of driver's licenses to people with epilepsy among non-medical students before and after media controversies. METHODS: The survey was performed in 2012 and 2014 using a structured questionnaire. Participants were non-medical students who attended a lecture on neurological diseases in children. The proportion of positive answers to each question in 2012 was compared with that in 2014. In addition, questions regarding attitudes toward driver's licenses were compared according to knowledge about car accidents linked to people with epilepsy. RESULTS: More participants were familiar with epilepsy and had a favorable attitude toward epilepsy in 2014 than in 2012. In contrast, the proportion of participants who knew of car accidents linked to people with epilepsy was reduced in 2014 compared with 2012. The proportion of participants who did not think that severe punishment should be given to people with epilepsy if they caused a car accident decreased in 2014 among those without knowledge of car accidents. CONCLUSIONS: Familiarity with and attitudes toward epilepsy were improved in 2014, whereas the decrease in proportion of positive answers on punishment among participants unfamiliar with car accidents suggests a latent worsening of public attitudes.


Assuntos
Atitude Frente a Saúde , Condução de Veículo , Epilepsia , Licenciamento , Acidentes de Trânsito , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Japão , Masculino , Estudantes , Inquéritos e Questionários , Adulto Jovem
7.
Epilepsy Behav ; 64(Pt A): 206-211, 2016 11.
Artigo em Inglês | MEDLINE | ID: mdl-27744246

RESUMO

To evaluate changes in the attitudes of nonmedical university students toward epilepsy in 2015, the present study compared the results of questionnaire surveys from four different time periods: before media coverage of epilepsy-related car accidents (2008-2010), during a period of abundant media coverage (2011-2012), after media coverage (2013-2014), and after novel media coverage (2015). The nonmedical students that completed the questionnaire were divided into four groups: 2008-2010, 2011-2012, 2013-2014, and 2015. The rates of students that had read or heard about epilepsy decreased significantly in 2015 compared with those in 2013-2014. Attitudes toward epilepsy had also worsened in 2015. The rates of students that would not oppose their children playing with or attending school alongside children with epilepsy and those who thought that people with epilepsy should be hired in the same way as other people had decreased significantly in 2015 compared with those in 2011-2012 and 2013-2014. Analyses of information-seeking behavior on the Internet showed that the increase in Google search volume and Wikipedia page views was much less in 2015 than in 2011 and 2012. These findings suggest that familiarity with epilepsy had worsened even after media coverage of novel epilepsy-related car accidents. This suggests that media coverage in 2015 was less influential than that in 2011 and 2012.


Assuntos
Acidentes de Trânsito , Epilepsia , Conhecimentos, Atitudes e Prática em Saúde , Internet , Meios de Comunicação de Massa , Feminino , Humanos , Comportamento de Busca de Informação , Masculino , Reconhecimento Psicológico , Estudantes , Inquéritos e Questionários , Pensamento , Adulto Jovem
9.
Brain Dev ; 38(8): 723-30, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27033151

RESUMO

PURPOSE: Although it has been reported that some antiepileptic drugs have inducing or inhibiting effects on lamotrigine (LTG) clearance, whether they have the same effects in Asian epilepsy patients as in those in other countries has not been clarified, especially in children. The aim of this study was to determine the effects of co-medications on LTG clearance in Japanese children with epilepsy. METHODS: A total of 342 routine serum concentration measurements of LTG in 102 Japanese epilepsy patients under 20years of age were reviewed. The dose-corrected concentration (DCC) of LTG was calculated as [concentration]/[dose/(body weight)], and the DCC of LTG was compared by co-medication. The difference in the DCC of LTG was compared between patients with and without valproic acid (VPA) and between those with and without drugs inducing glucuronic acid conjugation (phenytoin (PHT), carbamazepine (CBZ), and phenobarbital (PB)). RESULTS: The DCC of LTG was significantly higher in patients on VPA and significantly lower in patients on drugs inducing glucuronic acid conjugation than in patients on LTG monotherapy. The DCC of LTG was significantly higher in patients on CBZ than in patients on PHT or PB. There was no correlation between the DCC of LTG and the concentration of VPA or metabolic inducers within the therapeutic range. Other antiepileptic drugs including clobazam, clonazepam, zonisamide, and levetiracetam had little effect on LTG concentration. CONCLUSION: LTG concentration changes dramatically with concomitant antiepileptic drugs in Japanese children, as previously reported from other countries, and special attention is required. Although the dose of LTG should be adjusted when starting or discontinuing VPA or metabolic inducers, no adjustment is needed when changing the dose of VPA or metabolic inducers in the therapeutic range.


Assuntos
Anticonvulsivantes/farmacocinética , Epilepsia/sangue , Epilepsia/tratamento farmacológico , Triazinas/farmacocinética , Adolescente , Anticonvulsivantes/administração & dosagem , Benzodiazepinas/administração & dosagem , Carbamazepina/administração & dosagem , Criança , Pré-Escolar , Clobazam , Clonazepam/administração & dosagem , Interações Medicamentosas , Quimioterapia Combinada , Feminino , Humanos , Lactente , Recém-Nascido , Isoxazóis/administração & dosagem , Japão , Lamotrigina , Levetiracetam , Masculino , Fenobarbital/administração & dosagem , Fenitoína/administração & dosagem , Piracetam/administração & dosagem , Piracetam/análogos & derivados , Triazinas/administração & dosagem , Ácido Valproico/administração & dosagem , Adulto Jovem , Zonisamida
10.
Brain Dev ; 38(6): 597-600, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26867511

RESUMO

We describe a girl with Down syndrome who experienced focal seizures and epileptic spasms during infancy. The patient was diagnosed as having trisomy 21 during the neonatal period. She had focal seizures at five months of age, which were controlled with phenobarbital. However, epileptic spasms appeared at seven months of age in association with hypsarrhythmia. Upon treatment with adrenocorticotropic hormone, her epileptic spasms disappeared. Her younger brother also had focal seizures at five months of age. His development and interictal electroencephalogram were normal. The patient's father had had infantile epilepsy and paroxysmal kinesigenic dyskinesia. We performed a mutation analysis of the PRRT2 gene and found a c.841T>C mutation in the present patient, her father, and in her younger brother. We hypothesized that the focal seizures in our patient were caused by the PRRT2 mutation, whereas the epileptic spasms were attributable to trisomy 21.


Assuntos
Síndrome de Down/genética , Síndrome de Down/fisiopatologia , Epilepsia Neonatal Benigna/genética , Epilepsia Neonatal Benigna/fisiopatologia , Proteínas de Membrana/genética , Mutação , Proteínas do Tecido Nervoso/genética , Anticonvulsivantes/uso terapêutico , Encéfalo/efeitos dos fármacos , Encéfalo/fisiopatologia , Análise Mutacional de DNA , Síndrome de Down/tratamento farmacológico , Eletroencefalografia , Epilepsia Neonatal Benigna/tratamento farmacológico , Família , Feminino , Humanos , Lactente , Masculino , Linhagem , Convulsões/tratamento farmacológico , Convulsões/genética , Convulsões/fisiopatologia
11.
Brain Dev ; 38(4): 414-8, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26507771

RESUMO

OBJECTIVE: We retrospectively reviewed the outcomes of children with focal epilepsy treated with oral high-dose phenobarbital. METHODS: We reviewed data on children (aged<15 years) with focal seizures treated with high-dose phenobarbital (>5 mg/kg/day to maintain a target serum level >40 µg/mL) for at least 6 months. Seizure frequency was evaluated after phenobarbital titration, and 1 and 2 years after high-dose phenobarbital treatment commenced. Treatment was judged effective when seizure frequencies fell by ⩾75%. RESULTS: Seven boys and eight girls were treated. The median age at commencement of high-dose phenobarbital therapy was 30 months. The maximal serum phenobarbital level ranged from 36.5 to 62.9 µg/mL. High-dose PB was effective in seven. In two patients, treatment was transiently effective, but seizure frequency later returned to the baseline. High-dose PB was ineffective in six. No significant association between effectiveness and any clinical variable was evident. Drowsiness was recorded in nine patients, but no patient developed a behavioral problem or hypersensitivity. CONCLUSION: Oral high-dose phenobarbital was effective in 7 of 15 patients with focal epilepsy and well tolerated. High-dose PB may be useful when surgical treatment is difficult.


Assuntos
Anticonvulsivantes/uso terapêutico , Fenobarbital/uso terapêutico , Convulsões/tratamento farmacológico , Anticonvulsivantes/efeitos adversos , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Fenobarbital/efeitos adversos , Estudos Retrospectivos , Resultado do Tratamento
12.
Pediatr Int ; 58(1): 58-61, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26712128

RESUMO

Although seizures during infancy in patients with tuberous sclerosis complex are common, seizures in neonates are infrequent. Here, we report the clinical course and electroencephalography (EEG) findings of a neonate with tuberous sclerosis complex associated with clinically silent seizures. The patient was a girl in whom cardiac tumors were detected on fetal ultrasonography. Brain magnetic resonance imaging during the neonatal period showed subependymal and cortical tubers. Routine EEG indicated unexpected ictal changes with no noticeable clinical symptoms. Ictal EEG was associated with a subtle increase in heart rate and a brief increase in chin electromyogram. These changes were difficult to identify clinically. The patient later developed focal seizures and epileptic spasms and had severe psychomotor delay. The present case suggests the occurrence of clinically silent seizures before the appearance of epileptic spasms in infants with tuberous sclerosis, and that EEG is an option for neonates with a prenatal diagnosis.


Assuntos
Encéfalo/patologia , Convulsões/etiologia , Esclerose Tuberosa/complicações , Encéfalo/fisiopatologia , Eletroencefalografia , Feminino , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Convulsões/diagnóstico , Esclerose Tuberosa/diagnóstico
13.
Epileptic Disord ; 17(4): 425-35, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26620546

RESUMO

We characterized the clinico-neurophysiological features of epileptic spasms, particularly focusing on high-voltage slow waves during ictal EEG. We studied 22 patients with epileptic spasms recorded during digital video-scalp EEG, including five individuals who still had persistent spasms after callosotomy. We analysed the duration, amplitude, latency to onset of electromyographic bursts, and distribution of the highest positive and negative peaks of slow waves in 352 spasms. High-voltage positive slow waves preceded the identifiable muscle contractions of spasms. The mean duration of these positive waves was 569±228 m, and the mean latency to electromyographic onset was 182±127 m. These parameters varied markedly even within a patient. The highest peak of the positive component was distributed in variable regions, which was not consistent with the location of lesions on MRI. The peak of the negative component following the positivity was distributed in the neighbouring or opposite areas of the positive peak distribution. No changes were evident in the pre- or post-surgical distributions of the positive peak, or in the interhemispheric delay between both hemispheres, in individuals with callosotomy. Our data imply that ictal positive slow waves are the most common EEG changes during spasms associated with a massive motor component. Plausible explanations for these widespread positive slow waves include the notion that EEG changes possibly reflect involvement of both cortical and subcortical structures.


Assuntos
Ondas Encefálicas/fisiologia , Encéfalo/fisiopatologia , Espasmos Infantis/fisiopatologia , Criança , Pré-Escolar , Eletroencefalografia , Feminino , Humanos , Lactente , Masculino
14.
BMC Res Notes ; 8: 487, 2015 Sep 28.
Artigo em Inglês | MEDLINE | ID: mdl-26416607

RESUMO

BACKGROUND: The role of cytomegalovirus infection in triggering systemic lupus erythematosus remains a subject of debate. Here, we present a case of childhood systemic lupus erythematosus with concomitant cytomegalovirus infection, which sheds light on the relationship between these conditions and their treatment in pediatric patients. CASE PRESENTATION: A 12-year-old Japanese girl with no history of systemic illness was diagnosed with systemic lupus erythematosus and concomitant primary cytomegalovirus infection. Her anti-cytomegalovirus immunoglobulin G antibodies were elevated during diagnosis and treatment. Further, the patient's cytomegalovirus pp65 antigenemia level was slightly elevated (1 cell per 5 × 10(4) cells). Treatment included the administration of ganciclovir, prednisolone, methylprednisolone, and cyclophosphamide, none of which prompted adverse effects. The patient was in good condition at the most recent follow-up. CONCLUSION: Ganciclovir treatment is not completely safe, and there are no clinical guidelines regarding its use in patients with systemic lupus erythematosus triggered by cytomegalovirus infection. Our experience with this case suggests that the decision to administer ganciclovir treatment in pediatric cases should be guided by a variety of factors in addition to the cytomegalovirus antigenemia level. These factors include lymphopenia, renal biopsy results, and cytomegalovirus DNA levels detected by polymerase chain reaction. The details of our patient's presentation and treatment should prove illustrative to other clinicians who face similar cases.


Assuntos
Infecções por Citomegalovirus/complicações , Citomegalovirus/fisiologia , Lúpus Eritematoso Sistêmico/virologia , Criança , Infecções por Citomegalovirus/patologia , Progressão da Doença , Feminino , Humanos , Lúpus Eritematoso Sistêmico/patologia
15.
Epilepsy Behav ; 48: 41-4, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-26037848

RESUMO

To evaluate changes in the attitudes of nonmedical students about epilepsy, the present study compared the results of a questionnaire that was completed in three different time periods: before media coverage of car accidents associated with epilepsy, during a period of abundant media coverage about epilepsy-related accidents, and after media coverage of epilepsy-related accidents. The nonmedical students who completed the questionnaire were divided into three groups: Years 08-10 (preaccident era), Years 11-12 (media coverage era), and Years 13-14 (postmedia coverage era). The rates of students who had read or heard about epilepsy and of students who did not think that epilepsy was a mental disorder increased annually throughout the study period. There was an improvement in attitudes about epilepsy after the media coverage era, and this change was not altered even after a decrease in the media coverage of epilepsy-related car accidents. Additionally, the rate of positive answers did not differ between Years 11-12 and Years 13-14. These findings demonstrate that the familiarity with and improved attitudes about epilepsy were sustained even after the media coverage of car accidents involving persons with epilepsy had decreased.


Assuntos
Acidentes de Trânsito/estatística & dados numéricos , Epilepsia/epidemiologia , Conhecimentos, Atitudes e Prática em Saúde , Meios de Comunicação de Massa , Estudantes de Medicina/psicologia , Adolescente , Feminino , Humanos , Masculino , Opinião Pública , Inquéritos e Questionários , Adulto Jovem
16.
Brain Dev ; 37(10): 978-82, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25944760

RESUMO

Norrie disease is an X-linked recessive disorder that is characterized by congenital blindness. Although epileptic seizures are observed in some patients with Norrie disease, little is known about this phenomenon. Here, we report the manifestation of epilepsy in siblings with Norrie disease to increase our knowledge of epilepsy in this condition. Three brothers with congenital blindness were diagnosed with Norrie disease after genetic analyses indicated the deletion of exon 2 of the NDP gene. The eldest brother had suffered from epileptic seizures since the age of 11years, and his seizures were resistant to antiepileptic drugs. Although the second brother had no epileptic seizures, the youngest sibling had experiences epileptic seizures since the age of 8years. His seizures were controlled using lamotrigine and levetiracetam. An electroencephalography (EEG) revealed epileptiform discharges in the occipital areas in all three brothers. A study of these patients will increase our knowledge of epilepsy in patients with Norrie disease.


Assuntos
Cegueira/congênito , Epilepsia/genética , Doenças Genéticas Ligadas ao Cromossomo X/genética , Doenças do Sistema Nervoso/genética , Espasmos Infantis/genética , Anticonvulsivantes/uso terapêutico , Cegueira/genética , Cromossomos Humanos X , Eletroencefalografia , Epilepsia/tratamento farmacológico , Proteínas do Olho/genética , Humanos , Lamotrigina , Levetiracetam , Proteínas do Tecido Nervoso/genética , Linhagem , Fenótipo , Piracetam/análogos & derivados , Piracetam/uso terapêutico , Degeneração Retiniana , Irmãos , Triazinas/uso terapêutico
17.
PLoS One ; 10(3): e0118946, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25794116

RESUMO

Nucleotide alterations in the gene encoding proline-rich transmembrane protein 2 (PRRT2) have been identified in most patients with benign partial epilepsies in infancy (BPEI)/benign familial infantile epilepsy (BFIE). However, not all patients harbor these PRRT2 mutations, indicating the involvement of genes other than PRRT2. In this study, we performed whole exome sequencing analysis for a large family affected with PRRT2-unrelated BPEI. We identified a non-synonymous single nucleotide variation (SNV) in the voltage-sensitive chloride channel 6 gene (CLCN6). A cohort study of 48 BPEI patients without PRRT2 mutations revealed a different CLCN6 SNV in a patient, his sibling and his father who had a history of febrile seizures (FS) but not BPEI. Another study of 48 patients with FS identified an additional SNV in CLCN6. Chloride channels (CLCs) are involved in a multitude of physiologic processes and some members of the CLC family have been linked to inherited diseases. However, a phenotypic correlation has not been confirmed for CLCN6. Although we could not detect significant biological effects linked to the identified CLCN6 SNVs, further studies should investigate potential CLCN6 variants that may underlie the genetic susceptibility to convulsive disorders.


Assuntos
Canais de Cloreto/genética , Epilepsia Neonatal Benigna/complicações , Epilepsia Neonatal Benigna/genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único/genética , Convulsões Febris/complicações , Convulsões Febris/genética , Sequência de Aminoácidos , Sequência de Bases , Canais de Cloreto/química , Análise Mutacional de DNA , Éxons/genética , Feminino , Estudos de Associação Genética , Humanos , Recém-Nascido , Masculino , Dados de Sequência Molecular , Mutagênese , Linhagem , RNA Mensageiro/genética , RNA Mensageiro/metabolismo
18.
Brain Dev ; 37(9): 864-7, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25708686

RESUMO

OBJECTIVE: To clarify the efficacy and safety of fosphenytoin for seizures in children with benign convulsions and mild gastroenteritis. METHODS: Using the mailing list of the Annual Zao Conference on Pediatric Neurology, we recruited patients who met the following criteria: (1) clinical diagnosis of benign convulsions with mild gastroenteritis and (2) treatment with intravenous fosphenytoin. Benign convulsions with mild gastroenteritis were defined as a condition of (a) seizures associated with gastroenteritis without electrolyte imbalance, hypoglycemia, or dehydration in patients (b) between 6 months and 3 years of age with (c) no preexisting neurological disorders, (d) no impaired consciousness, and (e) a body temperature less than 38.0 °C before and after the seizures. The efficacy of fosphenytoin was categorized as effective when cessation of seizures was achieved. RESULTS: Data from 16 child patients were obtained (median age, 20 months). Seizures were completely controlled after the initial dose of fosphenytoin in 14 of 16 patients. The median loading dose of fosphenytoin was 22.5 mg/kg. In 10 patients, fosphenytoin was administered after other antiepileptic drugs such as diazepam and midazolam were used. Adverse effects of fosphenytoin, excessive sedation, or intravenous fluid incompatibility were not observed in any patients. CONCLUSION: Fosphenytoin is effective and well tolerated among children with benign convulsions with mild gastroenteritis.


Assuntos
Anticonvulsivantes/uso terapêutico , Gastroenterite/complicações , Fenitoína/análogos & derivados , Convulsões/tratamento farmacológico , Administração Intravenosa , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Fenitoína/efeitos adversos , Fenitoína/sangue , Fenitoína/uso terapêutico , Convulsões/complicações , Resultado do Tratamento
19.
Brain Dev ; 37(3): 339-43, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24837901

RESUMO

OBJECTIVE: To describe the clinical and neuroimaging features of a young female patient with acute disseminated encephalomyelitis associated with anti-aquaporin-4 antibodies. METHODS: The patient had mild encephalopathy 14 days after influenza vaccination. Cerebrospinal fluid analysis revealed an increased cell count and a marked increase in myelin basic protein. Magnetic resonance imaging (MRI) demonstrated multiple lesions in the juxtacortical white matter. The patient was diagnosed with acute disseminated encephalomyelitis and treated with methylprednisolone pulse therapy. She recovered in 1 month. However, right retrobulbar optic neuritis appeared 2 months after discharge, and serum anti-aquaporin 4 antibodies were measured with a cell-based assay. RESULTS: Anti-aquaporin 4 antibodies were present in the patient's serum. She was treated with a prolonged course of oral prednisolone. The patient was negative for serum anti-aquaporin 4 antibodies 8 months after the second clinical event, and prednisolone was discontinued 13 months after the second clinical event. Serum anti-aquaporin 4 antibodies remained negative 4 months after the discontinuation of prednisolone. There was no evidence of relapse at 9 months after discontinuation of steroids. CONCLUSIONS: This case will expand the spectrum of anti-aquaporin-4 antibody-related central nervous system disorders. The measurement of anti-aquaporin 4 antibody may be considered in patients with a clinical diagnosis of acute disseminated encephalomyelitis and a second clinical event within a short interval.


Assuntos
Aquaporina 4/imunologia , Autoanticorpos/sangue , Encefalomielite Aguda Disseminada/imunologia , Anti-Inflamatórios/administração & dosagem , Anti-Inflamatórios/farmacologia , Pré-Escolar , Encefalomielite Aguda Disseminada/tratamento farmacológico , Feminino , Humanos , Prednisolona/administração & dosagem , Prednisolona/farmacologia
20.
Pediatr Neurol ; 51(5): 730-3, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25193415

RESUMO

BACKGROUND: Microdeletion and microduplication syndromes without characteristic dysmorphic features are difficult to diagnose without chromosomal microarrays. PATIENTS: We describe the clinical course and genetic findings of monozygotic twins with intellectual disabilities and autistic features associated with mild facial dysmorphism and microdeletion of chromosome 3p14. RESULTS: The postnatal course of the second twin was complicated by intestinal malrotation, whereas that of the first twin was unremarkable. Both twins had several mild dysmorphic features including upswept frontal hair, low-set posterior rotated ears, arched down-slanting eyebrows, prominent forehead, epicanthic folds, micrognathia, hypertelorism, broad nasal bridge, short philtrum, and camptodactyly of the bilateral fifth fingers. They had autistic features such as poor eye contact and no social smile, stereotyped behaviors, and preference for solitary play. Array comparative genomic hybridization analysis revealed de novo 6.88-Mb deletions of 3p14 (chr3: 60,472,496-67,385,119) involving 17 genes in both twins. The deleted region contained 17 genes, five of which are known or presumed to be related to central nervous system disorders: FEZF2, SYNPR, ATXN7, PRICKLE2, and MAGI1. CONCLUSIONS: We consider that PRICKLE2 is the most likely causative gene for the autistic features exhibited by these individuals.


Assuntos
Transtorno Autístico/genética , Proteínas com Domínio LIM/genética , Proteínas de Membrana/genética , Polimorfismo de Nucleotídeo Único/genética , Deleção de Sequência/genética , Deleção Cromossômica , Cromossomos Humanos Par 3/genética , Humanos , Lactente , Masculino , Gêmeos Monozigóticos
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