Clinical, muscle biopsy and image findings in reversible infantile respiratory chain deficiency

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dc.creatorJulia F. Paim
dc.creatorEricka Viana Machado Carellos
dc.creatorR. Takata
dc.creatorAna Cotta
dc.creatorMônica Navarro
dc.creatorE. Carvalho
dc.creatorJ. Valicek
dc.creatorA. Cunha Junior
dc.creatorS. Baptista Junior
dc.creatorE. Silveira
dc.creatorM. Lima
dc.date.accessioned2023-08-03T19:25:20Z
dc.date.accessioned2025-09-09T00:50:03Z
dc.date.available2023-08-03T19:25:20Z
dc.date.issued2016
dc.format.mimetypepdf
dc.identifier.doihttps://doi.org/10.1016/j.nmd.2016.06.325
dc.identifier.issn0960-8966
dc.identifier.urihttps://hdl.handle.net/1843/57431
dc.languageeng
dc.publisherUniversidade Federal de Minas Gerais
dc.relation.ispartofNeuromuscular Disorders
dc.rightsAcesso Restrito
dc.subjectDoenças Mitocondriais
dc.subjectHipotonia Muscular
dc.subject.otherMitochondrial disorder
dc.subject.otherHypotonia
dc.subject.otherRespiratory chain deficiency
dc.titleClinical, muscle biopsy and image findings in reversible infantile respiratory chain deficiency
dc.typeArtigo de periódico
local.citation.epageS176
local.citation.spageS175
local.citation.volume26
local.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.
local.identifier.orcid0000-0002-3319-7597
local.publisher.countryBrasil
local.publisher.departmentMED - DEPARTAMENTO DE PEDIATRIA
local.publisher.initialsUFMG
local.url.externahttps://www.sciencedirect.com/science/article/pii/S0960896616306186?via%3Dihub

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