[Nemaline myopathy. A case report and revision of literature (author's transl)].

Two cases of nemaline myopathy, a boy and a girl, are presented. Both children show a general and facial appearance peculiar to this myopathy of which, about 38 cases have been described till now in medical literature. The diagnosis is made, by microscopic or ultramicroscopic study, which shows the characteristic rods of the disease. However, the clinical symptomatology of this syndrome is peculiar, with little muscular mass, a long face with an open mouth from which the spittle runs easily, muscular hypotony, myotatic areflexia of hyporeflexia, normal serum enzymes and E.M.G. myopathic of normal. This myopathy sometimes appears spontaneously and sometimes it is hereditary, this latter factor can be recessive or dominant with littre penetrability of the pathogenous gene.