Muscle fat replacement and modified ragged red fibers in two patients with reversible infantile respiratory chain deficiency.

Autor: Cotta A; Pathology Department, The SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil. Electronic address: cotta@sarah.br., Carvalho E; Neurophysiology Department, The SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil., da-Cunha-Junior A; Radiology Department, The SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil., Navarro MM; Pediatrics and Genetics Department, The SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil., Paim JF; Pathology Department, The SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil., Valicek J; Neurophysiology Department, The SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil., Baptista-Junior S; Pathology Department, The SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil., da Silveira EB; Electron Microscopy Department, The SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil., Lima MI; Electron Microscopy Department, The SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil., Carellos EVM; Department of Pediatrics, School of Medicine, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil; Joao Paulo II Children Hospital, Minas Gerais Hospitalar Foundation, Belo Horizonte, Brazil., de-La-Rocque-Ferreira A; Molecular Biology Department, The SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil., Takata RI; Molecular Biology Department, The SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil., Horvath R; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom.
Jazyk: angličtina
Zdroj: Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 Jun; Vol. 31 (6), pp. 551-557. Date of Electronic Publication: 2021 Feb 21.
DOI: 10.1016/j.nmd.2021.02.017
Abstrakt: Reversible infantile respiratory chain deficiency is a severe neonatal mitochondrial myopathy that resolves spontaneously. It is caused by the homoplasmic m.14674T>C mtDNA mutation and additional nuclear variants in genes interacting with mt-tRNAGlu have been detected in some patients. We present detailed clinical, imaging, and muscle biopsy findings in a boy and a girl with neonatal hypotonia, feeding difficulties, lactic acidosis, and ragged red fibers. Both patients show fat replacement on muscle imaging, which was mild in the boy, but severe in the girl, affecting mostly the posterior leg muscles. In addition to the homoplasmic m.14674T>C, both patients carried heterozygous variants in QRSL1 (c. 686T>G; p.Val299Gly) and EARS2 (c.358C>T; p.Arg120Trp), respectively. It is very important to recognize the clinical and morphological signs of reversible infantile respiratory chain deficiency as patients should receive intensive supportive care in the first 6 months of life. Understanding the mechanism of the spontaneous recovery may lead to novel therapeutic perspectives in other mitochondrial diseases.
Competing Interests: Declaration of Competing Interest None RH was supported by the European Research Council [309548], the Wellcome Investigator Award [109915/Z/15/Z], the Medical Research Council (UK) [MR/N025431/1]; the Newton Fund [UK/Turkey, MR/N027302/1], the Lily Foundation and the Evelyn Trust. Summary: AC, EC, Ald-C-L, MMN, JFP, JV, SB-J, EBS, MIL, EVMC, AdLRF, RIT have no interest to declare. RH was supported by the European Research Council [309548], the Wellcome Investigator Award [109915/Z/15/Z], the Medical Research Council (UK) [MR/N025431/1]; the Newton Fund [UK/Turkey, MR/N027302/1], the Lily Foundation and the Evelyn Trust.
(Copyright © 2021 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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