Document Detail

Reversible mitochondrial myopathy with cytochrome c oxidase deficiency.
MedLine Citation:
PMID:  1325759     Owner:  NLM     Status:  MEDLINE    
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.
M K Salo; J Rapola; H Somer; H Pihko; M Koivikko; H J Tritschler; S DiMauro
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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    
Department of Paediatrics, University Hospital of Tampere, Finland.
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MeSH Terms
Carnitine / administration & dosage
Cells, Cultured / pathology
Combined Modality Therapy
Cytochrome-c Oxidase Deficiency*
Enteral Nutrition
Fibroblasts / pathology
Mitochondria, Muscle / enzymology*
Muscles / enzymology,  pathology
Muscular Diseases / diagnosis*,  metabolism,  therapy
Remission Induction
Skin / pathology
Reg. No./Substance:

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