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Washington University Experience | MUSCLE | Myopathies with Mitochondrial Pathology | 30A1A (Case 30) EM016 - Copy

Case 30 History ---- This patient is a 5-year-old male with left foot drop and increased tone, torticollis, hearing loss, and congenital talipes, and club foot bilaterally. EMG shows small motor units in proximal and distal muscles suggesting a myopathy. CK and lactate are normal. Whole-Genome Oligonucleotide Array CGH + SNP is normal. Rule out congenital disorder. ---- 30A1A-D Ultrastructural examination of the muscle shows many fibers with collections, typically subsarcolemmal, of numerous mitochondria. Individual mitochondria were increased in number, mildly enlarged and of abnormal shapes. They contain focal clear areas of pale cristae or matrix (30A2). These mitochondria are abnormal and really at the margin of mitochondriopathy and mitochondrial myopathy, but do not reach the marked size, unusual matrix contents, "parking lot" formations of typical mitochondrial myopathy.

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