1. Mitochondrial myopathy, cardiomyopathy, and pontine signal changes in an adult patient with isolated complex II deficiency
- Author
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Kumaraswamy Thangaraj, Chikkanna Govindaraju, Kothari Sonam, Nahid Akthar Khan, Arun B Taly, Hanumanthapura R. Aravinda, Parayil Sankaran Bindu, Atchayaram Nalini, and Narayanappa Gayathri
- Subjects
Pathology ,medicine.medical_specialty ,Mitochondrial disease ,Respiratory chain ,SDHA ,Cardiomyopathy ,Young Adult ,Mitochondrial myopathy ,Pons ,medicine ,Humans ,Myopathy ,Muscle biopsy ,medicine.diagnostic_test ,biology ,business.industry ,Brain Diseases, Metabolic ,Succinate dehydrogenase ,Electron Transport Complex II ,Mitochondrial Myopathies ,General Medicine ,medicine.disease ,Neurology ,biology.protein ,Female ,Neurology (clinical) ,medicine.symptom ,business ,Cardiomyopathies - Abstract
Mitochondrial disorders resulting from an isolated deficiency of complex II of the respiratory chain is rarely reported. The phenotypic spectrum associated with these disorders is heterogeneous and still expanding. This report describes a patient who presented with myopathy, dilated cardiomyopathy, and pontine signal changes on magnetic resonance imaging. Muscle biopsy showed total absence of succinate dehydrogenase on enzyme histochemistry, negative succinate dehydrogenase subunit A (SDHA) activity on immunohistochemistry, and ultrastructural evidence of mitochondrial aggregates of varying sizes confirming the diagnosis of complex II deficiency. A unique phenotype with complex II deficiency is reported.
- Published
- 2014