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The prognosis of 27 patients with moyamoya disease was studied. The ages at onset ranged from 11 months to 4-11/12 years. Follow-up study was performed within 4 years from the onset in 13, 5 to 9 years in 5, and 10 to 15 years in 9. Transient ischemic attacks (TIA) occurred most often during the first four years and decreased thereafter. Intellectual(More)
We determined the efficacy of and tolerability to zonisamide (ZNS) in newly diagnosed patients with infantile spasms. ZNS, 4-20 mg/kg per day, was introduced as an add-on therapy or monotherapy in 27 children with infantile spasms (cryptogenic, 2; symptomatic, 25). The dosage was initially 2-4 mg/kg per day, and then was increased by 2-5 mg/kg every 2-4(More)
Ocular manifestations in two cases of congenital muscular dystrophy of Fukuyama type were reported. This disease is characterized by early onset of hypotonia, generalized muscle weakness and atrophy, mental retardation, and elevated serum creatine-phosphokinase activity. The symptoms include entropion of lower lids, pathological myopia with astigmatism,(More)
We describe two male infants with central nervous system disorders, i.e. infantile spasms in one and athetotic quadriplegia in the other, and with recurrent attacks of high plasma creatine kinase levels induced by viral infections. Although carnitine palmitoyltransferase I (CPT I) activity in biopsied muscle was normal in both cases, that of carnitine(More)
An 8 year old boy with ring chromosome 21 who was susceptible to sinorespiratory infections due to hypogammaglobulinaemia is reported. He presented with the characteristic features of monosomy 21 syndrome, such as psychomotor retardation, hypertonia, large saccular ears, prominent nasal bridge, micrognathia, thrombocytopenia, and patent ductus arteriosus.(More)
We assessed the usefulness of brainstem auditory evoked potentials (BAEPs) for differentiating types of degenerative diseases in children. The findings of BAEPs were abnormal in one out of two with polioencephalopathies and in seven of the eight with leukoencephalopathies, showing prolonged interpeak latencies of waves I–III, I–V or disappearance of wave(More)
We report a 3-year-old girl with hereditary motor and sensory neuropathy type III with a decrease in unmyelinated fibers. There have been few reports of such cases. The present findings suggest the possibility that the primary lesion in this disease is in the axons. We consider that more attention should be paid to the changes in unmyelinated fibers and(More)