title: Fatal neonatal nemaline myopathy.
abstract: Nemaline myopathy was first reported in 1963 and has been considered to be a congenital, non-progressive myopathy with weakness since birth. However, severe forms leading to death in infancy have been rarely reported. Recently we necropsied a female infant with fatal neonatal nemaline myopathy who required mechanical ventilatory support immediately following delivery. She had suffered from recurrent pneumonia and died at five months of age. Light and electron microscopic studies on both muscle biopsy and autopsy specimens were diagnostic of nemaline myopathy. Characteristic rod-like structures were demonstrated within skeletal muscles, and accumulations of thin filaments were seen in numerous muscle fibers. The origin of these structures in the Z-disks and other morphologic features were the same as those of the rods occurring in congenital cases of rod myopathy. No involvement was observed in the cardiac muscle or in the smooth muscle of the gastrointestinal tract. It is likely that involvement of the skeletal muscles of the pharyngeal areas, intercostal spaces, and diaphragm might have contributed to the difficulty in swallowing and respiratory distress.
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology; D000251:Adenosine Triphosphatases; D005260:Female; D006801:Humans; D007223:Infant; D009132:Muscles / Q000473:pathology / Q000648:ultrastructure; D009135:Muscular Diseases / Q000151:congenital* / Q000473:pathology; D012120:Respiration Disorders / Q000151:congenital; D013194:Staining and Labeling
chemical_list: D000251:Adenosine Triphosphatases