Reversible mitochondrial myopathy with cytochrome c oxidase deficiency
| Autor: | H Pihko, H. J. Tritschler, M Koivikko, Salvatore DiMauro, H Somer, J Rapola, M K Salo |
|---|---|
| Rok vydání: | 1992 |
| Předmět: |
Male
Pathology medicine.medical_specialty Biopsy Physiology Cytochrome-c Oxidase Deficiency Physical examination Enteral Nutrition Mitochondrial myopathy Muscular Diseases Carnitine medicine Cytochrome c oxidase Humans Cells Cultured Skin Muscle biopsy Muscular hypotonia medicine.diagnostic_test biology business.industry Muscles Remission Induction Infant Fibroblasts medicine.disease Combined Modality Therapy Mitochondria Muscle Lactic acidosis Pediatrics Perinatology and Child Health biology.protein Female business medicine.drug Research Article |
| Zdroj: | Archives of disease in childhood. 67(8) |
| ISSN: | 1468-2044 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|