| Reversible mitochondrial myopathy with cytochrome c oxidase deficiency. | |
| | |
MedLine Citation:
|
PMID: 1325759 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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. 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. Clinically they improved gradually. Now, the boy aged 4 years and the girl aged 28 months are free of clinical signs. Muscle biopsy specimens taken at 3 months showed, in both, ragged red fibres, abnormal mitochondria, and reduced cytochrome c oxidase (COX) staining. Biochemical analysis showed COX activity to be reduced to about 25% of the normal mean. The second biopsy specimen from the boy at 16 months was normal on morphological examination, but the girl's second specimen at 13 months still showed abnormal features. These cases are examples of the rare benign reversible COX deficiency. Early diagnosis is crucial to provide intensive treatment until spontaneous clinical improvement appears. |
| | |
Authors:
|
M K Salo; J Rapola; H Somer; H Pihko; M Koivikko; H J Tritschler; S DiMauro |
Related Documents
:
|
2806739 - Language and neurodevelopmental outcome of low-birthweight infants at three years. 6402999 - Leigh's necrotizing encephalopathy with pyruvate carboxylase deficiency. 19163549 - Comparing a supervised and an unsupervised classification method for burst detection in... 9642609 - Statistical models of outcome in malpractice lawsuits involving death or neurologically... 22571689 - Utilization of postnatal care for newborns and its association with neonatal mortality ... 22848409 - Intergenerational predictors of birth weight in the philippines: correlations with moth... 11287879 - Risk factors for nosocomial infections in critically ill newborns: a 5-year prospective... 7635229 - The influence on a 'normal' birthweight distribution of a minor population of growth re... 721389 - A behavioral method for efficient screening of visual acuity in young infants. ii. clin... |
Publication Detail:
|
Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: Archives of disease in childhood Volume: 67 ISSN: 1468-2044 ISO Abbreviation: Arch. Dis. Child. Publication Date: 1992 Aug |
Date Detail:
|
Created Date: 1992-10-07 Completed Date: 1992-10-07 Revised Date: 2010-09-07 |
Medline Journal Info:
|
Nlm Unique ID: 0372434 Medline TA: Arch Dis Child Country: ENGLAND |
Other Details:
|
Languages: eng Pagination: 1033-5 Citation Subset: AIM; IM |
Affiliation:
|
Department of Paediatrics, University Hospital of Tampere, Finland. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Biopsy Carnitine / administration & dosage Cells, Cultured / pathology Combined Modality Therapy Cytochrome-c Oxidase Deficiency* Enteral Nutrition Female Fibroblasts / pathology Humans Infant Male Mitochondria, Muscle / enzymology* Muscles / enzymology, pathology Muscular Diseases / diagnosis*, metabolism, therapy Remission Induction Skin / pathology |
| Chemical | |
Reg. No./Substance:
|
541-15-1/Carnitine |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: New aerosol delivery system for neonatal ventilator circuits.
Next Document: Identification and localization of atrial natriuretic factor receptors in human spermatozoa.