Keywords
Mitochondrial diseases; Lebanon; Epilepsy; Myopathy; Metabolic disorders; Mitochondria
Abstract
This is the first retrospective descriptive study, describing the clinical and paraclinical aspects of 257 Lebanese children presenting a mitochondrial disease. The patients were diagnosed over 7 years, with a suspicion of mitochondrial disorder confirmed by muscle biopsy. The clinical and paraclinical signs were studied in this population.
Hypotonia (51.3%), psychomotor delay (11.6%) and epilepsy (7.39%) were the most common presenting signs. With the progression of the disease, hypotonia was found in 80.9% of the patients, while 78.21% reached a condition with multiple disabilities. The brain imaging showed different lesions in different patients ranging from white matter lesions to basal ganglia lesions and cerebellar lesions. The most common finding on the muscle biopsy was a cytochrome C oxidase deficiency (52.1%) and red ragged fibers were found in 17.5% of the patients. 36.19% of the patients needed at least one time admission to the intensive care unit.
Conclusion: this is the first large scale study on metabolic disorders in Lebanon, it shows that the mitochondrial disorders are the most common metabolic disorders in Lebanon, with a huge variety of presenting signs and symptoms, and with a severe neurological deterioration accompanying the disease progression
Citation
e Mansour H, Barmada M, Karam S, Hmaimess G, Bechara E, Hage P, et al. Clinical and Paraclinical Aspects of Mitochondrial Diseases in 257 Lebanese Children. SM J Pediatr. 2018; 3(1): 1018.