Clinical variability of congenital myopathy with type I fiber atrophy: A long-term observation of three cases
| Autor: | Keiko Shishikura, Haruko Suzuki, Makiko Osawa, Rieko Takahashi, Sawako Sumida, Yumi Arai, Yoshito Hirayama, Yukio Fukuyama |
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| Rok vydání: | 1994 |
| Předmět: |
Pathology
medicine.medical_specialty medicine.diagnostic_test business.industry Degeneration (medical) Congenital fiber type disproportion medicine.disease Motor function Congenital myopathy Atrophy Pediatrics Perinatology and Child Health Increased internal nuclei Biopsy medicine Clinical severity business |
| Zdroj: | Pediatrics International. 36:186-193 |
| ISSN: | 1328-8067 |
| DOI: | 10.1111/j.1442-200x.1994.tb03159.x |
| Popis: | The variable clinical courses of three cases of congenital fiber type disproportion (CFTD) over a period of 10 years are presented. All showed improvement in early childhood, but subsequently, varying degrees of deterioration were noted: specifically, marked deterioration in case 2 and decreased muscle strength in case 3. Maximal motor function levels were attained differently among the cases. Histological findings included type 1 fiber hypotrophy and increased internal nuclei in common in all cases. Fine structural changes, such as patchy areas of myofibrillar degeneration, were noted in cases 1 and 2 (second biopsy), and cytoplasmic bodies were seen in case 2 (second biopsy). Myotubes were noted in case 3. The degree of cyto-architectural changes did not correlate with clinical severity. The heterogeneity of CFTD is also discussed. |
| Databáze: | OpenAIRE |
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