Clinical, muscle biopsy and image findings in reversible infantile respiratory chain deficiency
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Universidade Federal de Minas Gerais
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Artigo de periódico
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Membros da banca
Resumo
Reversible infantile respiratory chain deficiency is a mitochondrial disorder characterized by profound hypotonia and feeding difficulties within the first months of life with remarkable recovery. There are no clinical or morphologic diagnostic criteria that differentiate it from mitochondriopathies with worse prognosis. The aim of this study was to report of two novel patients with reversible respiratory chain disorder and m.14674T > C mutation. Clinical,morphologic and image findings of two novel patients are described. A 1-month old boy and a 1-year-old girl presented severe hypotonia, feeding difficulties, and lactic acidosis since birth. The girl presented also respiratory distress. Muscle biopsies showed cytochrome-c-oxidase negative fibers, ragged red fibers, succinate-dehydrogenase deep blue fibers, acid phosphatase reactive fibers, and large mitochondria with proliferated cristae. Decreased respiratory chain complex IV enzymatic activity was observed in the girl. Muscle image revealed gluteus maximums, vastus lateralis, and soleus involvement in both patients. Last follow-up, at 6 years and 3 years old, revealed pronounced clinical improvement.Reversible infantile respiratory chain deficiency with m.14674T > C mutation may present SDH (succinate dehydrogenase) deep blue fibers, increased acid phosphatase activity, and large mitochondria. This is the first report of muscle image involvement in reversible respiratory chain disease. Diagnosing this
mitochondrial disorder is crucial for appropriate intensive supportive care.
Abstract
Assunto
Doenças Mitocondriais, Hipotonia Muscular
Palavras-chave
Mitochondrial disorder, Hypotonia, Respiratory chain deficiency
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https://www.sciencedirect.com/science/article/pii/S0960896616306186?via%3Dihub