The clinical spectrum of mitochondrial disease in 75 pediatric patients

The clinical spectrum of mitochondrial disease in 75 pediatric patients

Skladal D; Sudmeier C; Konstantopoulou V; Stockler-Ipsiroglu S; Plecko-Startinig B; Bernert G; Zeman J; Sperl W

Clinical Pediatrics

2003

Child; Female; Humans; infant; Male; adolescent; Preschool; infant; Q3 Literature Search; Newborn; retrospective studies; Age of Onset; Mitochondrial Diseases/diagnosis/epidemiology

The clinical presentation of mitochondrial disorders in childhood is highly variable causing difficulties in diagnosis and management. We assessed records of 75 children (48 male, 27 female) with a biochemically and/or molecularly established mitochondrial disorder in a retrospective, multicentric study. The predominant biochemical defect was an isolated respiratory chain complex IV, followed by respiratory chain complex I, combined respiratory chain, and isolated pyruvate dehydrogenase complex (PDHC) deficiencies. For the 75 patients, the predominant clinical presentations were a nonspecific encephalomyopathy (n = 34) and Leigh syndrome (n = 17). Classical mitochondrial syndromes with associated mutations of the mitochondrial DNA were rare (n = 12). Eleven children had a lethal infantile mitochondrial disease (LIMD). This group comprised a considerable variety of clinical pictures, and the cohort was big enough to show the high frequency and wide spectrum of nonneuromuscular symptoms in mitochondrial disorders in childhood.

2003

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Journal Article

Backlog