Clinical manifestations in children with mitochondrial diseases.

Mitochondrial diseases comprise a group of complex and heterogeneous genetic disorders. Variable clinical features present a major challenge in pediatric diagnoses. From January 1984-June 2009, 69 patients were diagnosed with either syndromic mitochondrial diseases or nonsyndromic mitochondrial diseases. Clinical manifestations, laboratory findings, and histopathologic results differentiating syndromic from nonsyndromic mitochondrial diseases were analyzed by chi(2) test, with cutoff significance at P = 0.05. The commonest clinical manifestation involved central nervous system signs (88.4%). A comparison of central nervous system signs in syndromic vs nonsyndromic mitochondrial diseases revealed significant differences in terms of headache, external ocular motility, and apnea (P < 0.05). A comparison of organ systems revealed a significant difference for signs of the cardiovascular system. Elevated initial blood lactate levels were evident in 40.6% of patients, and 84.8% produced abnormal results after oral glucose challenge. Ragged red fibers were observed in 51.6% of patients. The positive rate of mitochondrial gene mutation was 27.5%. Age and disease were directly related: the younger the age at initial disease onset, the higher the frequency of mortality and morbidity. Notorious variability in the presentation of mitochondrial diseases exists in all pediatric subspecialties. Greater familiarity with those signs will facilitate more accurate diagnoses. Copyright 2010 Elsevier Inc. All rights reserved.