RESUMO
We report the clinical course and results of electroencephalographic (EEG) examinations in 2 sisters with infantile dentatorubral pallidoluysian atrophy (DRPLA). Typical development was seen until the age of 6 months. From that age, however, development was delayed. The elder sister experienced astatic seizure at the age of 3 years. She began to deteriorate and had difficulty in controlling her body movement at the age of 3 years and 7 months. Magnetic resonance imaging revealed marked cerebellar atrophy and genetic analysis of the DRPLA gene led to a diagnosis of DRPLA. Repeat size of the CAG base sequence was 86/19. Neurological deterioration was rapid and controlling convulsions using antiepileptic drugs was difficult. EEG was characterized by high-voltage slow waves and poor development of basic wave through the follow-up period. In contrast, the younger sister showed only mild developmental delay, and could stand independently at the 2 years and 9 months. Repeat size of the CAG base sequence was 79/11. Myoclonic seizures developed at 4 years and 7 months, but have been well controlled using sodium valproate. EEG showed diffuse 3-4 Hz spike-and-wave complexes that were rather different from the findings in her elder sister.
Assuntos
Eletrocardiografia , Epilepsias Mioclônicas Progressivas/fisiopatologia , Criança , Pré-Escolar , Feminino , Humanos , Epilepsias Mioclônicas Progressivas/genéticaRESUMO
Medical practice after adolescence in child neurology was discussed. Major issues to be solved included; who should play major role in the practice, what medical facilities are available for inpatients, how medical networks are built in the community (especially for disabled patients), and which medical benefits were required to support patients after the cessation of support for childhood disorders. As child neurologists, we must decide whether we need training in adult neurology as an elective course or compulsory. All these considerations have to be solved by child neurologists for the benefit of maturing patients.
Assuntos
Continuidade da Assistência ao Paciente , Medicina , Doenças do Sistema Nervoso/terapia , Neurologia , Pediatria , Padrões de Prática Médica , Especialização , Adolescente , Adulto , Criança , Prestação Integrada de Cuidados de Saúde , Crianças com Deficiência , Planos de Pagamento por Serviço Prestado , Retroalimentação , Humanos , Japão , Doenças do Sistema Nervoso/economia , Encaminhamento e ConsultaRESUMO
Many patients in child neurology over 15 years old are carried by their cares to clinics for treatments. Child neurologists have to give to their patients and their families a lot of information about public support systems in their clinics. This paper investigates the public support systems in Japan that are presently available for disabled children and adults.
Assuntos
Crianças com Deficiência/reabilitação , Apoio Financeiro , Serviços de Saúde , Apoio Social , Seguridade Social , Adolescente , Adulto , Criança , Família , Serviços de Saúde/economia , Serviços de Saúde/legislação & jurisprudência , Humanos , Japão , Medicina , Neurologia , Pediatria , Seguridade Social/economia , EspecializaçãoRESUMO
This report is made for the Japanese Society of Child Neurology to determine the social problems regarding handicapped children and youngsters. In 2002, Social Activity and Public Relations Committee was organized in the Society, and immediately pointed out some social problems, such as medical care for severely handicapped children in special schools.
Assuntos
Crianças com Deficiência , Neurologia/organização & administração , Apoio Social , Criança , Educação de Pessoa com Deficiência Intelectual , Humanos , Neurologia/educação , Sociedades MédicasRESUMO
We investigated the clinical characteristics of 54 patients with childhood onset occipital lobe epilepsy (OLE). There were 25 patients of symptomatic OLE (cortical dysplasia, post encephalitis or encephalopathy, brain tumor and so on), and 29 cases of cryptogenic OLE. Eighteen patients had positive visual symptoms such as flash light, bright spots and sparks of light, 23 patients had negative ones such as scotoma, hemianopia and amaurosis and 10 patients had other complicated visual symptoms such as change of the shape or colors. Young children complained of simple visual phenomena. The youngest patient who could explain visual symptom was 3 years old. All 3 patients with visual field defects had cortical dysplasia in occipital lobe. Ictal SPECT study showed wide hyperperfusion areas in the temporo-parieto-occipital lobe in most of patients with abnormal MRI findings. CBZ and VPA were prescribed in most cases, and were effective in 65% and 60% of the patients, respectively. Seizure prognosis was relatively good. Seizures disappeared in 56% of the patients with symptomatic OLE and 79% of those with cryptogenic OLE.
Assuntos
Epilepsias Parciais/fisiopatologia , Adolescente , Adulto , Carbamazepina/uso terapêutico , Criança , Pré-Escolar , Epilepsias Parciais/diagnóstico , Epilepsias Parciais/tratamento farmacológico , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Prognóstico , Tomografia Computadorizada de Emissão de Fóton Único , Ácido Valproico/uso terapêuticoRESUMO
We isolated NSD1 from the 5q35 breakpoint in an individual with Sotos syndrome harboring a chromosomal translocation. We identified 1 nonsense, 3 frameshift and 20 submicroscopic deletion mutations of NSD1 among 42 individuals with sporadic cases of Sotos syndrome. The results indicate that haploinsufficiency of NSD1 is the major cause of Sotos syndrome.