Research Article

Etiological Analysis of Neurodevelopmental Disabilities: Single-Center Eight-Year Clinical Experience in South China

Figure 6

Muscular ultrastructure and brain MRI findings in a patient with congenital muscular dystrophy. In Figure 6(a), the myofibril Z lines in a muscle cell were ruptured , and the filaments between Z lines were arranged disorderly . Figure 6(b) showed the fatty degeneration of myofibrils in a muscle cell with completely vanished sarcolemma, and large quantity of collagenous fibers (ā˜†) were observed in the endomysium ( m). Figures 6(c) and 6(d) were cranial MRI findings revealing the reduced signal intensity in T1WI while increased one in T2WI, respectively, in bilateral frontal and parietal lobes, both indicating leukodystrophy.
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