Abstract

ABDOU, D M et al. Clinical, biochemical, and histopathological diagnosis of Egyptian paediatric patients with suspected mitochondrial diseases: A hospital-based study. S. Afr. j. child health [online]. 2023, vol.17, n.1, pp.1-6. ISSN 1999-7671.  https://doi.org/10.7196/SAJCH.2023.v17i1.1779.

BACKGROUND: Mitochondrial respiratory chain (RC) disorders are a growing group of disorders with a large variety of clinical presentations ranging from well-defined clinical syndromes to nonspecific manifestations, such as failure to thrive, exercise intolerance and seizures OBJECTIVE: To describe the clinical, biochemical, and histochemical spectrum of 38 Egyptian patients clinically suspected of having mitochondrial RC disorders METHODS: A total of 38 patients (female, n=18 (47.4%); male, n=20 (52.6%)) clinically suspected of having mitochondrial diseases had been referred to the Inherited Metabolic Diseases Laboratory at Cairo University Children's Hospital. Laboratory investigations and analyses included histochemical staining of cytochrome c oxidase and succinate dehydrogenase in muscle biopsies, as well as spectrophotometric assays of RC complexes in muscle homogenates RESULTS: Twenty-three patients (60.5%) were diagnosed with different RC enzyme deficiencies. Fifteen patients (65%) had complex I deficiency and all of them also had lactic acidosis (mean (standard deviation)) plasma lactate concentration of 4 (1.65) mmol/L). Two patients (9%) with marked complex IV deficiency both showed COX-negative ragged red fibers (RRFs) on histochemical staining. Combined complex I and complex II deficiency with scattered COX-stain deficiency and RRFs was diagnosed in 2 patients (5.25%), while a further 2 patients (5.26%) had combined (complex I, II+III, complex IV) deficiencies. Isolated complex II deficiency was diagnosed in 2 patients (5.26%) and 15 (39.5%) patients had normal RC enzyme activities CONCLUSION: Biochemical assay of RC complexes is considered the cornerstone for diagnosis of RC complex mitochondrial disorders. These disorders are common among Egyptian paediatric patients

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