Neuropediatrics 2006; 37 - MP66
DOI: 10.1055/s-2006-943663

RETROSPECTIVE STUDY OF MITOCHONDRIAL DISORDER IN CHILDHOOD

MH Hu 1, CY Wang 1, LS Ro 1, HS Wang 1, PC Hung 1, ML Chou 1, DC Yan 1, KL Lin 1
  • 1Division of Pediatric Neurology, Chang Gung Children's Hospital, Taipei, Taiwan

Objectives: Mitochondrial diseases represent a heterogeneous group of disorders with widely varying clinical features caused by structural and functional abnormalities in mitochondria. Our purpose was to evaluate the clinical characteristics, laboratory investigation of pediatric group with mitochondrial myopathies and cytopathies.

Methods: We retrospectively investigated 39 patients (25 males and 14 females, with a mean age of 4±3.4 years) with mitochondrial cytomyopathies in childhood diagnosed by muscle biopsy of increased subsarcolemmal mitochondrial accumulation confirmed by nicotinamide adenine dinucleotide or succinate dehydrogenase, ragged-red fiber by trichromal positive, or cytochrome-c oxidase deficient stain between 2000 and 2005. A chart review included information about clinical characteristic, level of lactate, pyruvate, creatine phosphokinase, lactate dehydrogenase, neuroimagings and electroencephalographic findings.

Results: Twentyeight patients (71%) of these 39 patients were with developmental delay, 23 (58.9%) with epilepsy, and 19 (48.7%) had myopathy, 14 (35.8%) had gut, 12 (30.7%) had eye, 9 (23%) had heart and 4 (10.2%) had hearing problem. The laboratory investigation revealed elevated lactate (27±17.8), pyruvate (0.45±0.17), lactate to pyruvate ratio (65±43), CPK (192±165) and LDH (125±40), organic aciduria in 15 (n=17, 88%). Abnormal neuroimaging was found in 18 (n=26, 69%) with lesions over hippocampus, thalamic and cerebellum areas mostly, abnormal EEG findings in 28 (n=30, 93%) frequently over middle temporal areas.

Conclusion: Developmental delay and seizure are the most common presentation in mitochondrial cyto-myopathies. Lactate acidosis with elevated lactate to pyruvate ratio, and epileptiform discharges over temporal areas may be seen in the mitochondrial disease. Early recognition of the clinical features in mitochondria disease is becoming increasingly important for general pediatricians for early referral and diagnosis with following treatment and early intervention of rehabilitation.