Abstract：
:Our knowledge of mitochondrial respiratory chain diseases has increased dramatically in recent years, but relatively little information is available about their prevalence and incidence, either in pediatric or adult patients. This study reports incidence and prevalence estimates, and summarizes the clinical, biochemical, histologic, and genetic characteristics of 51 patients age 0-16 years. The overall annual incidence of all mitochondrial respiratory chain diseases was estimated to be 1.43 cases per 10(5) in the population as a whole, and 2.85 cases per 10(5) in the under-6 population. The overall prevalence of all mitochondrial respiratory chain diseases was estimated as 7.5 cases per 10(5) in the under-19 population, and 8.7 cases per 10(5) in the under-16 population. These incidence and prevalence estimates are higher than in most previous studies of pediatric populations. Estimated prevalences of specific mitochondrial respiratory chain diseases were 2.05 cases per 10(5) for Leigh syndrome, 0.68 per 10(5) for mitochondrial deoxyribonucleic acid (mtDNA) deletions and deletions-duplications, 1.59 per 10(5) for mtDNA depletions, and 0.45 per 10(5) for mtDNA point mutations. Leigh syndrome was the most frequent clinical syndrome. The estimates of the prevalences of mtDNA deletions, deletions-duplications, and point mutations set forth here are lower than in similar previous studies, whereas the estimate of the prevalence of mtDNA depletions is rather higher. Sixteen of these patients manifested phenotypic syndromes that have not been previously reported in association with mitochondrial respiratory chain diseases.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Castro-Gago M,Blanco-Barca MO,Campos-González Y,Arenas-Barbero J,Pintos-Martínez E,Eirís-Puñal Jdoi
10.1016/j.pediatrneurol.2005.07.011subject
Has Abstractpub_date
2006-03-01 00:00:00pages
204-11issue
3eissn
0887-8994issn
1873-5150pii
S0887-8994(05)00465-0journal_volume
34pub_type
杂志文章abstract：:Epilepsy is a common disorder in pediatric neurology, and electroencephalography (EEG) continues to play an important role in its diagnosis. However, the small size of a child's head and immaturity of the brain make EEG interpretation more difficult in children than in adults. This article presents a new method of EEG...
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