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Clinical characteristics of patients with non‐specific and non‐categorized mitochondrial diseases
Author(s) -
Kim Jeong Tae,
Lee Yun Jin,
Lee Young Mock,
Kang Hoon Chul,
Lee Joon Soo,
Kim Heung Dong
Publication year - 2009
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2009.01428.x
Subject(s) - medicine , mitochondrial disease , atrophy , magnetic resonance imaging , mitochondrial respiratory chain , disease , respiratory chain , pediatrics , respiratory system , mitochondrion , mitochondrial myopathy , mitochondrial dna , pathology , radiology , genetics , gene , biology
Aim: Mitochondrial disease is a heterogeneous disorder entity induced by defects in mitochondrial respiratory chain complex (MRC). A significant portion of patients with MRC defect will not conform to a specific, known syndrome. We have analysed the clinical features of 108 Korean paediatric patients with non‐specific and non‐categorized mitochondrial disease. Methods: We retrospectively reviewed the clinical and laboratory features of 108 paediatrics patients with non‐specific and non‐categorized mitochondrial diseases who showed defects in MRC activity, confirmed by spectrophotometric biochemical enzyme assay of their muscles. Results: Neuromuscular involvement was noted in all patients, with developmental delay and seizure accounting for 92.6% and 77.8% of total patients respectively. Various extraneurological symptoms were observed. Most patients exhibited MRC I defect, accounting for 100 (92.6%) patients. The most common brain magnetic resonance imaging (MRI) finding was diffuse cerebral atrophy. However, in 23.1% of patients, no notable changes were visible on MRI. Conclusions: Mitochondrial respiratory chain complex I defect was the most common finding in this study. Though neuromuscular symptoms predominated, with presence of numerous extraneurological findings, we could not find any novel symptoms that might be unique to this category of mitochondrial disease. But, comparatively, more patients presented with unremarkable birth histories and normal brain MRI findings.