Clinical and Histopathological Study of Patients With Mitochondrial Abnormalities
Journal Title: Journal of Neurological Sciences-Turkish - Year 2012, Vol 29, Issue 4
Abstract
Objective: Mitochondrial diseases are clinically heterogenous group of disorders with widely varying clinical features. Diagnosis can be difficult and requires synthesis of clinical, biochemical, histopathological and molecular data. These investigations may not be available in most medical centers. Muscle biopsy provides an important information to confirm a mitochondrial disease. Ragged red fibers and cytochrome oxidase negative fibers are the morphological hallmark of mitochondrial diseases. In this study, we aimed to analyze clinical features and histopathological findings of patients with mitochondrial abnormalities on muscle biopsy. Methods: We retrospectively evaluated demographic and neurologic features, presenting symptoms, additional systemic manifestations, syndromic features of patients with mitochondrial abnormalities on muscle biopsy, according to diagnostic criteria for mitochondrial cytopathies. Results: Among 936 muscle biopsy sample, 118 showed mitochondrial abnormalities. Eighty four patients were considered as primary mitochondrial disease based on clinical and histopathologic features. The diagnosis of 34 patients was nonmitochondrial diseases according to their clinical features and additional histopathologic findings. The most common syndrome was chronic progressive external ophtalmoplegia in 61 patients. Fifteen patients had isolated proximal myopathy and 4 patients had Kearns Sayre syndrome, 2 patients had SANDO, 1 patient had MNGIE, 1 patient had MLASA. Conclusion: Mitochondrial abnormalities occur in both mitochondrial diseases and many nonmitochondrial diseases. The majority of patients with primary mitochondrial disorders have ophtalmologic abnormalities or neuromuscular manifestations. The accurate diagnosis of mitochondrial diseases relies on a multidisciplinary approach and muscle biopsy is useful in both accurate diagnosis and differential diagnosis.
Authors and Affiliations
Ozgur EKMEKCI, Hatice KARASOY, Nur YUCEYAR
Keywords
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