Wiotkość mięśniowa u niemowlÄ t - wyzwanie diagnostyczne dla pediatry

Hypotonia is a rare clinical sign observed in infants, difficult to make an early diagnosis because of nonspecificity, various etiology and need of multispecialistic diagnostic procedures which are able only in some clinical centers. The diagnosis is often established with delay. We present case reports of 6 infants with significantly decreased muscle tonus, in which mitochondrial cytopathy has been diagnosed in 3 cases, nemaline myopathy in 1, Prader-Willi syndrome in 1, and in 1 case without final diagnosis. Four children died during infancy. Diagnostic problems were observed in all children, especially because other simultaneous diseases were detected in the clinical course.