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Washington University Experience | MUSCLE | Inclusions - Membranous, multilamellar | 2A1A-Case-2-EM007-copy-Copy.jpg
Case 2 History ---- The patient is a 16-month-old boy with Moebius syndrome, hypotonia, facial palsy with a history of neonatal meningitis and subclinical seizures. EMG was reportedly normal. Exome sequencing shows a VUS in PRPRN2. Operative procedure: Left vastus lateralis muscle biopsy and left sural nerve biopsy, ---- Not shown: One micron-thick, toluidine blue stained sections show no atypical findings in the muscle; however, at the clinicians request we performed ultrastructural analysis. There were small subsarcolemmal mitochondrial aggregates which were mildly abnormal in number, shape and cristae substructure but no more substantial aggregates expected in typical mitochondrial myopathy. ---- 2A1A One myofiber contains a collection of cylindrical spirals. At the lower margin of the image is a fragment of a histiocyte (arrow) with stored aluminum-containing material derived from inoculation preservative (“macrophagic myofasciitis”). Morin stain for aluminum showed aluminum containing cells in the endomysium or perimysium. (electron micrograph)
