Early infant death in nemaline (rod) myopathy
| Autor: | Orvar Eeg-Olofsson, K-G Henriksson, L-E Thorneil, G Wesström |
|---|---|
| Rok vydání: | 1983 |
| Předmět: |
Pathology
medicine.medical_specialty genetic structures Polymyositis Nemaline myopathy Developmental Neuroscience Muscular Diseases Myofibrils medicine Humans Myopathy Floppy Infant Muscle biopsy medicine.diagnostic_test business.industry Muscles Infant General Medicine Anatomy medicine.disease Congenital myopathy Infant mortality Microscopy Electron Pediatrics Perinatology and Child Health Female sense organs Neurology (clinical) Differential diagnosis medicine.symptom business Respiratory Insufficiency |
| Zdroj: | Braindevelopment. 5(1) |
| ISSN: | 0387-7604 |
| Popis: | Congenital 'floppy infant' syndrome with very early death is uncommon. It is here described in a girl. Histopathological examination of a muscle biopsy at the age of 10 days showed rods and infiltration of inflammatory cells. Death occurred at 5 weeks of age. Electron microscopy of the necropsy material showed widened Z disks and rods of Z disk density with a typical transverse periodicity of 18-20 nm. The differential diagnosis between nemaline (rod) myopathy and infantile polymyositis is discussed. Nemaline (rod) myopathy should always be considered in cases of the congenital 'floppy infant' syndrome. |
| Databáze: | OpenAIRE |
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