The clinical and neuropathological findings in two infants with congenital nemaline myopathy are described. One patient presented at birth with severe hypotonia, respiratory failure and contractures and died shortly after the neonatal period. The other presented at age two months with hypotonia and, following a period of clinical stability, died at age seven months from respiratory failure. Pathological findings in the fatal neonatal case revealed numerous rod bodies in lingual, pharyngeal, diaphragm and limb muscles, correlating with clinical findings. Significant, but less rod body involvement was found in the diaphragm and limb muscles of the second patient. Although a neural basis has been suggested for this disorder, no abnormalities were found in the central nervous system or in the peripheral nerves of these two severely affected patients. RESUME: Nous d6crivons les caract6ristiques cliniques et neuropathologiques de deux nourissons avec une myopathic nemaline cong£nitale. Un patient est n€ avec une hypotonic severe, une insuffisance respiratoire et des contractures, et il est mort peu apres la p6riode n^onatale. Le deuxieme patient montra a deux mois une hypotonic et devait mourir d'insuffisance respiratoire a 7 mois apres une p6riode de stability. Chez le premier enfant la neuropathologie a montrd de nombreux corps en batonnet dans les muscles de la langue, du pharynx, du diaphragme et des membres. Chez le second patient les memes batonnets, mais en nombre inf£rieur, furent trouv^s dans les muscles du diaphragme et des membres. MalgrS l'hypothese d'une base neurale pour cette maladie, il fut impossible de trouver des anomalies du CNS ou des nerfs p6riph6riques chez ces deux patients.
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