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Washington University Experience | MUSCLE | Myopathies with Mitochondrial Pathology | 6A0 Case 6 History
Case 6 History ---- The patient is an eight week old male infant with a history of refractory status epilepticus since birth and non-diagnostic chromosomal and genetic screening. MRI of the brain shows multiple congenital anomalies, including complete agenesis of the corpus callosum, small bilateral cerebellar hemispheres, micrognathia, misshapen globes bilaterally, bilateral frontal lobes with thickened cortex, and polymicrogyria. Rule out mitochondrial disease. Operative procedure: Right quadriceps vastus lateralis muscle biopsy.
