[Nemaline myopathy: report of a case with a histochemical and electron microscopy study].
Report of a case of a male child, with hypotonia since birth, along with severe feeding difficulties due to lack of swallowing, that resulted in a permanent gastrostomy. Despite the delayed motor development, he had a normal intelligence. An electromyography was suggestive of primary muscle involvement. A fresh-frozen muscle biopsy stained by the modified Gomori trichrome and processed by histochemistry and electron microscopy presented the typical nemaline rods and deficiency of type II muscle fibers. It is made a brief revision about the clinical symptoms, origin and pathogenesis of nemaline bodies. The case reported probably represents a nemaline myopathy, of the congenital type.
D003680:Deglutition Disorders / Q000151:congenital; D005774:Gastrostomy; D006801:Humans; D007223:Infant; D008297:Male; D009123:Muscle Hypotonia / Q000150:complications / Q000151:congenital*; D009132:Muscles / Q000473:pathology / Q000648:ultrastructure*
Miopatia nemalínicca: relato de um caso com estudo histoquímico e microscopia eletrônica.