Document Detail

Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases.
MedLine Citation:
PMID:  17403843     Owner:  NLM     Status:  MEDLINE    
OBJECTIVES: We sought to determine the clinical spectrum, survival, and long-term functional outcome of a cohort of pediatric patients with mitochondrial diseases and to identify prognostic factors. METHODS: Medical charts were reviewed for 73 children diagnosed between 1985 and 2005. The functional status of living patients was assessed prospectively by using the standardized Functional Independence Measure scales. RESULTS: Patients fell into 7 phenotypic categories: neonatal-onset lactic acidosis (10%), Leigh syndrome (18%), nonspecific encephalopathy (32%), mitochondrial (encephalo)myopathy (19%), intermittent neurologic (5%), visceral (11%), and Leber hereditary optic neuropathy (5%). Age at first symptoms ranged from prenatal to 16 years (median: 7 months). Neurologic symptoms were the most common (90%). Visceral involvement was observed in 29% of the patients. A biochemical or molecular diagnosis was identified for 81% of the patients as follows: deficiency of complex IV (27%), of pyruvate dehydrogenase or complex I (25% each), of multiple complexes (13%), and of pyruvate carboxylase (5%) or complexes II+III (5%). A mitochondrial DNA mutation was found in 20% of patients. At present, 46% of patients have died (median age: 13 months), 80% of whom were <3 years of age. Multivariate analysis showed that age at first symptoms was a major independent predictor of mortality: patients with first symptoms before 6 months had a highly increased risk of mortality. Cardiac or visceral involvement and neurologic crises were not independent prognostic factors. Living patients showed a wide range of independence levels that correlated positively with age at first symptoms. Among patients aged >5 years (n = 32), 62% had Functional Independence Measure quotients of >0.75. CONCLUSIONS: Mitochondrial diseases in children span a wide range of symptoms and severities. Age at first symptoms is the strongest predictor mortality. Despite a high mortality rate in the cohort, 62% of patients aged >5 years have only mild impairment or normal functional outcome.
François-Guillaume Debray; Marie Lambert; Isabelle Chevalier; Yves Robitaille; Jean-Claude Decarie; Eric A Shoubridge; Brian H Robinson; Grant A Mitchell
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Pediatrics     Volume:  119     ISSN:  1098-4275     ISO Abbreviation:  Pediatrics     Publication Date:  2007 Apr 
Date Detail:
Created Date:  2007-04-03     Completed Date:  2007-04-23     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0376422     Medline TA:  Pediatrics     Country:  United States    
Other Details:
Languages:  eng     Pagination:  722-33     Citation Subset:  AIM; IM    
Medical Genetics Division, Centre Hospitalier Universitaire Sainte-Justine, Université de Montreal, Montreal, Quebec, Canada H3T 1C5.
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MeSH Terms
Cause of Death*
Child, Preschool
Cohort Studies
DNA Fragmentation
DNA, Mitochondrial / genetics*
Follow-Up Studies
Infant, Newborn
MELAS Syndrome / diagnosis,  mortality,  therapy
Mitochondrial Diseases / diagnosis*,  genetics,  mortality*
Mitochondrial Encephalomyopathies / diagnosis,  mortality,  therapy
Mitochondrial Myopathies / diagnosis,  genetics,  mortality
Optic Atrophy, Hereditary, Leber / diagnosis,  genetics,  mortality
Proportional Hazards Models
Retrospective Studies
Severity of Illness Index
Survival Analysis
Time Factors
Reg. No./Substance:
0/DNA, Mitochondrial

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