School of Myology - Workshop - Class 2002

Case No. 9

Clinical Setting

Male infant, 6 months old. Severe hypotonia. Hyperlactacedemia.

Pathology

Microscopy

HE shows slight variation in size of the fibers with no dystrophic changes

Gomori stain display increased subsarcolemmal and intermyofibrillar membranous material (ragged red fibers).

Several ragged red fibers show subsarcolemmal reactivity for NADH deshydrogenase.

Sections react similarly to succinate deshydrogenase.

Proposed diagnosis

Metabolic myopathy (Mitochondrial)

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