PMC6942752_01
Electromyogram of the right 5th finger. A surface electromyogram, showing myotonic bursts in the abductor of the right 5th finger.
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Electromyography revealed myotonic bursts in all four limbs (Figure 1).
Pathology assessment of a muscle biopsy. (a) Stain:hematein eosin saffron; magnification: x40. (b) Histochemical analysis of cytochrome oxidase; magnification: x20. (c) Stain: periodic acid Schiff; magnification: x20.
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A histologic assessment of a muscle biopsy showed clusters of sometimes confluent vacuoles within the muscle fibers; this observation was consistent with lipid overload in striated muscle (Figure 2).
Changes in clinical and laboratory parameters during treatment.
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The clinical and biochemical parameters improved (Figure 3); the rapid disappearance of the swallowing disorder enabled the resumption of oral feeding (a low fat diet, with lipids accounting for no more than 5-10% of the recommended total energy intake).