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Washington University Experience | MUSCLE | Myopathies with Mitochondrial Pathology | 27A1 Muscle Bx(Case 27)_001 - Copy
Case 27 History ---- The patient is a 6-month-old boy with progressive muscle weakness who is tracheal tube and gastric tube dependent. He was born at 38 weeks of gestation following an uncomplicated pregnancy and was intubated shortly after birth due to lack of spontaneous movement or respiration. The patient has suffered from seizures and has been tried on multiple AEDs. Comprehensive genetic testing was negative. He has had extensive workup by Neurology, including EEG (evidence of myoclonic epilepsy), MRI of brain (concerning for neurodegenerative disorder/inborn errors of metabolism), and a normal MRI of the spine. Of note, the patient had two male siblings who previously developed similar clinical presentations at 30 days old and 8 months old. Operative procedure: Left quadriceps muscle biopsy. ---- 27A1-5 Ultrastructural examination shows myofibers with focally increased numbers of mitochondria. Further, there is occasional clustering, and notable variability in the size and shapes of mitochondria examined, including some enlarged forms and very abnormal shapes. The internal architecture of mitochondria; however, appears mostly unremarkable with the exception of the focal presence of coarse cristae. A fair amount of intracytoplasmic glycogen is also seen within the myofibers, which is appropriate given the patient's age. The lipid content appears unremarkable.(electron micrographs)
