Clinical Spectrum, Morbidity, and Mortality in 113 Pediatric Patients With Mitochondrial Disease

• DOI: 10.1542/peds.2004-0718
• Publication Date: 2004-10-13T18:57:26Z
• Authors: Fernando Scaglia; Jeffrey A. Towbin; William J. Craigen; John W. Belmont; E. O’Brian Smith; Stephen R. Neish; Stephanie M. Ware; Jill V. Hunter; Susan D. Fernbach; Georgirene D. Vla...; Lee-Jun C. Wong; Hannes Vogel
• Keywords: Mitochondrial disease; Dilated Cardiomyopathy; Presentation (obstetrics)

Objectives. The aim of this study was to elucidate the frequency major clinical manifestations in children with mitochondrial disease and establish their course, prognosis, rates survival depending on features. Methods. We performed a retrospective review medical records 400 patients who were referred for evaluation disease. By use modified Walker criteria, only assigned definite diagnosis included study. Results. A total 113 pediatric identified. 102 (90%) underwent muscle biopsy as part diagnostic workup. significant respiratory chain (RC) defect, according found 71% evaluated. In cohort, complex I deficiency (32%) combined I, III, IV deficiencies (26%) most common causes RC defects, followed by (19%), III (16%), II (7%). Pathogenic DNA abnormalities 11.5% patients. substantial fraction (40%) disorders exhibited cardiac disease, diagnosed Doppler echocardiography; however, majority (60%) had predominant neuromuscular manifestations. No correlation between type defect presentation observed. Overall, mean age at 40 months. However, 33 months group 44 noncardiac group. Twenty-six (58%) hypertrophic cardiomyopathy, 29% dilated remainder (13%) left ventricular noncompaction. Patients cardiomyopathy an 18% rate 16 years age. features but no 95% same Conclusions. This gives strong support view that is more than previously thought tends follow different severe course. Although greater reported, mutations minority patients, emphasizing childhood Mendelian pattern inheritance.