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http://hdl.handle.net/1843/57431| Tipo: | Artigo de Periódico |
| Título: | Clinical, muscle biopsy and image findings in reversible infantile respiratory chain deficiency |
| Autor(es): | Julia F. Paim Ericka Viana Machado Carellos R. Takata Ana Cotta Mônica Navarro E. Carvalho J. Valicek A. Cunha Junior S. Baptista Junior E. Silveira M. Lima |
| Resumen: | 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. |
| Asunto: | Doenças Mitocondriais Hipotonia Muscular |
| Idioma: | eng |
| País: | Brasil |
| Editor: | Universidade Federal de Minas Gerais |
| Sigla da Institución: | UFMG |
| Departamento: | MED - DEPARTAMENTO DE PEDIATRIA |
| Tipo de acceso: | Acesso Restrito |
| Identificador DOI: | https://doi.org/10.1016/j.nmd.2016.06.325 |
| URI: | http://hdl.handle.net/1843/57431 |
| Fecha del documento: | 2016 |
| metadata.dc.url.externa: | https://www.sciencedirect.com/science/article/pii/S0960896616306186?via%3Dihub |
| metadata.dc.relation.ispartof: | Neuromuscular Disorders |
| Aparece en las colecciones: | Artigo de Periódico |
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