ABSTRACT
Objective To summary the clinical characteristics of epileptic spasm(ES)that is the unique form of seizures in childhood. Methods A total of 149 patients with ES who visited our hospital from May 2009 to June 2015 were collected. The documents of clinical data, treatment and outcome were analyzed retrospectively. The statistical analysis of some clinical characteristics and prognosis of patients were performed. Results There were 97(65.1%) male and 52 (34.9%) female in the 149 patients. The onset age of ES was from 30 days to 42 months (median value was 6 months) including 17 patients more than 12 months.The peak age of onset was 4-7 months. One hundred and forty-seven patients manifested clustered spasm. One pair of twins showed single spasm.Other types of seizure were seen before ES onset in 13 (8.7%) patients, and after ES onset in 42 (28.2%) patients.Eighty-three patients (55.7%) were diagnosed as West syndrome (WS). There were 46 patients (30.9%) with cryptogenic cause, 103 patients (69.1%) diagnosed with symptomatic epilepsy, in which 69 patients were with a clear cause. The proportions of developmental delay in the cryptogenic and symptomatic patients were 74.5% and 92.2% after the onset of the ES. The degree of developmental delay was linearly related to the course of ES. The hyperarrhythmia of electroencephalogram (EEG) background was seen in 122 patients (81.9%), and there was no significant difference in hyperarrhythmia between different etiology groups or different onset age groups. The short-term efficiency of topiramate evaluated within one month was 30.5% in 59 newly diagnosed patients. The short-term effective rate of adrenocorticotropic hormone (ACTH) was 80.3% in total 76 patients, but single ACTH treatment was associated with an increased recurrent rate. Conclusion ES is a highly age dependent seizure type that mainly found in WS,which typically follows a EEG hyperarrhythmia and developmental delay. The treatment of ES is difficult. ACTH combined with effective antiepileptic drugs (AEDS) is currently the most reasonable drug treatment program.
ABSTRACT
OBJECTIVE To detect potential mutation in a Chinese family affected with beta-ureidopropinoase deficiency. METHODS Genomic DNA was extracted from peripheral blood samples. All exons and flanking intron regions of the UPB1 gene were amplified by PCR and detected by direct sequencing. RESULTS A homozygous mutation c.977G>A was identified in exon 9 of the UPB1 gene in the proband. Both parents of the proband had heterozygous change of the same site. CONCLUSION The c.977G>A mutation of the UPB1 gene is responsible for the pathogenesis of the disease in the infant.