Skeletal muscle ultrastructural pathology in tuner's syndrome / Patología ultraestructural del musculo esqueletico en el síndrome de turner

ABSTRACT

This study reports the ultrastructural alterations observed in muscle biopsies from 4 patients with Turner's syndrome and a mild, non-progressive form of musclular compromise. The abnormalities found were fiber atrophy, mitochondrial changes, swelling of sarcotubular system elents, lysosomal proliferation and presence of filamentous bodies. Fiber necrosis was not evident. Microvascular alterations included thickening and reduplication of basement membranes, vacuolation of endothelial cells and pericytes and a mononuclear cell infiltrate formed mainly by macrophages. These histopathological changes seem to be part of the phenotypic manifestation of this syndrome. These observstions indicate that the presence of muscle problems in patients with Turner's syndrome does not necessarily mean the coexistence of a muscular disease