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Please use this identifier to cite or link to this item: http://hdl.handle.net/1843/57431
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dc.creatorJulia F. Paimpt_BR
dc.creatorEricka Viana Machado Carellospt_BR
dc.creatorR. Takatapt_BR
dc.creatorAna Cottapt_BR
dc.creatorMônica Navarropt_BR
dc.creatorE. Carvalhopt_BR
dc.creatorJ. Valicekpt_BR
dc.creatorA. Cunha Juniorpt_BR
dc.creatorS. Baptista Juniorpt_BR
dc.creatorE. Silveirapt_BR
dc.creatorM. Limapt_BR
dc.date.accessioned2023-08-03T19:25:20Z-
dc.date.available2023-08-03T19:25:20Z-
dc.date.issued2016-
dc.citation.volume26pt_BR
dc.citation.spageS175pt_BR
dc.citation.epageS176pt_BR
dc.identifier.doihttps://doi.org/10.1016/j.nmd.2016.06.325pt_BR
dc.identifier.issn0960-8966pt_BR
dc.identifier.urihttp://hdl.handle.net/1843/57431-
dc.description.resumoReversible 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.pt_BR
dc.format.mimetypepdfpt_BR
dc.languageengpt_BR
dc.publisherUniversidade Federal de Minas Geraispt_BR
dc.publisher.countryBrasilpt_BR
dc.publisher.departmentMED - DEPARTAMENTO DE PEDIATRIApt_BR
dc.publisher.initialsUFMGpt_BR
dc.relation.ispartofNeuromuscular Disorders-
dc.rightsAcesso Restritopt_BR
dc.subjectMitochondrial disorderpt_BR
dc.subjectHypotoniapt_BR
dc.subjectRespiratory chain deficiencypt_BR
dc.subject.otherDoenças Mitocondriaispt_BR
dc.subject.otherHipotonia Muscularpt_BR
dc.titleClinical, muscle biopsy and image findings in reversible infantile respiratory chain deficiencypt_BR
dc.typeArtigo de Periódicopt_BR
dc.url.externahttps://www.sciencedirect.com/science/article/pii/S0960896616306186?via%3Dihubpt_BR
dc.identifier.orcid0000-0002-3319-7597pt_BR
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