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Mitochondrial Myopathy with Reversible Cytochrome C Oxidase Deficiency

Benign COX deficiency


Presentation

  • On electron microscopy, the abnormal mitochondria present on the first biopsy specimen had disappeared both in muscle fibers and blood vessels; nearly all mitochondria were morphologically normal at the second biopsy.[ncbi.nlm.nih.gov]
  • The abnormal muscle and mitochondrial morphology in a variety of clinical presentations from isolated ophthalmoplegia to severe encephalopathy are also elaborated.[books.google.com]
  • Abstract Two siblings, a boy and a girl born in a nonconsanguineous marriage, presented with a similar clinical course. Sucking and breathing difficulties appeared within a few weeks of birth.[adc.bmj.com]
  • She remained welluntil the age of 34 years when she re-presented with symptoms ofmuscle weakness.[docslide.com.br]
  • […] in adult life Clinical features: May present in adulthood Optic atrophy Growth retardation Spasticity Pulmonary edema KSS like presentation Coenzyme Q10 (CoQ) Deficiency Onset may present in midlife: Encoded by nuclear genome Transfers electron from[neurodiffdx.com]
Gastric Pain
  • Reichmann, Adult Onset Lipid Storage in Gastric Mucosa and Skeletal Muscle Fibers Associated with Gastric Pain, Progressive Muscle Weakness and Partial Deficiency of Cytochrome C Oxidase, Pathology - Research and Practice, 187, 1, (85), (1991).[doi.org]
Hepatomegaly
  • Abstract A 2-month-old girl had generalized weakness, profound muscular hypotonia, hepatomegaly and severe lactic acidosis. She needed ventilatory support.[ncbi.nlm.nih.gov]
  • Clinical examination revealed profound muscular hypotonia, hepatomegaly, increased serum creatine kinase activities, and lactic acidosis. Both infants were treated with gavage feeding, the boy also needing ventilatory support.[adc.bmj.com]
  • Recurrent hypoglycemia with or without ketoacidosis precipitated by: Caloric deprivation Exercise Infection Pregnancy Myalgia, increased fatigue Lactic academia induced by exercise Cardiomyopathy: High precordial T waves Left axis deviation Unexplained hepatomegaly[neurodiffdx.com]
Macroglossia
  • Macroglossia disappeared by age 4 months. Blood lactic acid declined steadily and was normal by 14 months of age. Histochemical and ultrastructural studies of muscle biopsy specimens obtained at 1 and 7 months… CONTINUE READING[semanticscholar.org]
  • At age 4 1/2 months, she had generalized weakness, hypotonia, areflexia, and macroglossia. She developed cyanosis and respiratory failure, and marked cardiomegaly was noted. She died at age 8 1/2 months of cardiac arrest.[unboundmedicine.com]
  • Macroglossia disappeared by age 4 months. Blood lactic acid declined steadily and was normal by 14 months of age.[doi.org]
High Arched Palate
Petechiae
  • M.Teresa García-Silva, Antonia Ribes, Yolanda Campos, Barbara Garavaglia and Joaquin Arenas, Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria, Pediatric Neurology, 17, 2, (165), (1997). Mohammed Ghamdi, Dawna L.[doi.org]
Muscle Hypotonia
  • Clinically, patients had severe generalized muscle hypotonia and weakness from birth to 3 months of age. Two patients had facial muscle involvement and high-arched palate.[pediatricneurologybriefs.com]
Areflexia
  • At age 4 1/2 months, she had generalized weakness, hypotonia, areflexia, and macroglossia. She developed cyanosis and respiratory failure, and marked cardiomegaly was noted. She died at age 8 1/2 months of cardiac arrest.[unboundmedicine.com]
  • […] thiamine pyrophosphokinase 230 deficiency/Thiamine Metabolism Dysfunction Syndrome-5 (THMD5), Spinocerebellar ataxia-28 (SCA28), autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN), Dominant Optic Atrophy (DOA), cerebellar ataxia, areflexia[brevets-patents.ic.gc.ca]
Hyporeflexia
  • Richard Koenigsberger and Darryl C Devivo}, journal {Annals of neurology}, year {1981}, volume {14 2}, pages { 226-34 } } Published in Annals of neurology 1981 DOI: 10.1002/ana.410140209 A 2-week-old boy had profound generalized weakness, hypotonia, hyporeflexia[semanticscholar.org]
  • Abstract A 2‐week‐old boy had profound generalized weakness, hypotonia, hyporeflexia, macroglossia, and severe lactic acidosis. The infant improved spontaneously: he held his head at 4 1/2 months, rolled over at 7 months, and walked by 16 months.[doi.org]
Hyporeflexia
  • Richard Koenigsberger and Darryl C Devivo}, journal {Annals of neurology}, year {1981}, volume {14 2}, pages { 226-34 } } Published in Annals of neurology 1981 DOI: 10.1002/ana.410140209 A 2-week-old boy had profound generalized weakness, hypotonia, hyporeflexia[semanticscholar.org]
  • Abstract A 2‐week‐old boy had profound generalized weakness, hypotonia, hyporeflexia, macroglossia, and severe lactic acidosis. The infant improved spontaneously: he held his head at 4 1/2 months, rolled over at 7 months, and walked by 16 months.[doi.org]

Workup

Muscle Biopsy showing Variation In Fiber Size
  • Muscle biopsy showed variation in fiber size, and numerous ragged-red fibers that were COX negative. Northern blot analysis revealed decreased levels of mitochondrial transfer RNA-glutamate molecules.[pediatricneurologybriefs.com]

Treatment

  • Early diagnosis is crucial to provide intensive treatment until spontaneous clinical improvement appears.[ncbi.nlm.nih.gov]
  • Olfactory cell lines may provide a cell model forthe future assessment of pharmacological agents that are developedfor the treatment of MNGIE syndrome.doi:10.1016/j.jocn.2010.07.05757.[docslide.com.br]
  • Most of the gene defects in this group of patients remain unknown and there are no effective treatments.[ncl.ac.uk]
  • However, while the mechanism of action of GCs in the treatment of MIDs remains largely unknown, there are indications that GCs act not only in the nucleus but also in mitochondria.( 3, 4 ) Herein, we summarise and discuss the role of GCs in the treatment[smj.org.sg]

Prognosis

  • This study provides the rationale for a simple genetic test to identify infants with mitochondrial myopathy and good prognosis.[f1000.com]
  • Neonatal cardiomyopathies commonly are associated with poor prognosis, and the underlying etiology of this disorder differs considerably from cardiomyopathies in older children, adolescents, and adults with similar phenotypes.[journals.lww.com]

Etiology

  • Neonatal cardiomyopathies commonly are associated with poor prognosis, and the underlying etiology of this disorder differs considerably from cardiomyopathies in older children, adolescents, and adults with similar phenotypes.[journals.lww.com]
  • Mitochondrial disease--its impact, etiology, and pathology. Curr Top Dev Biol 77:113-55 Phoenix C; Schaefer AM; Elson JL; Morava E; Bugiani M; Uziel G; Smeitink JA; Turnbull DM; McFarland R, 2006.[newcastle-mitochondria.com]
  • Is the tRNALeu(UUR) gene an etiologic hot spot?" . The Journal of Clinical Investigation 92(6):2906-2915. 156. Moraes, C. T., Ciacci, F., Silverstri, G., Shanske, S., Sciacco, M., Hirano, M., Schon, E. A., Bonilla, E. and DiMauro, S. (1993).[mitomap.org]

Epidemiology

  • […] deficiency - Reversible infantile cytochrome c oxidase deficiency - Reversible infantile respiratory chain deficiency Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological[csbg.cnb.csic.es]
  • "Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes" .[mitomap.org]
Sex distribution
Age distribution

Pathophysiology

  • Schon and Salvatore DiMauro, Primary Disorders of Mitochondrial DNA and the Pathophysiology of mtDNA-Related Disorders, Mitochondria in Pathogenesis, 10.1007/0-306-46835-2_3, (53-80), (2002). Rachel A. Nardin and Donald R.[doi.org]
  • "Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease" . Cell 55(4):601-610.[mitomap.org]

Prevention

  • A method for treating or preventing a mitochondrial disease or disorder in a subject in need thereof, comprising administering to the subject a therapeutically effective amount of a catechol derivative or a pharmaceutically acceptable salt thereof, in[brevets-patents.ic.gc.ca]

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