Multicore Disease – Report of a Case with Lack of Fibre Type Differentiation

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Abstract
A 6 yr old boy had congenital hypotonia and nonprogressive proximal muscular weakness, with mild abnormalities in the EMG (electromyography) and normal serum enzyme levels. There was lack of fiber type differentiation in the quadriceps muscle biopsy. The fibers had high oxidative enzyme activity and low ATPase 9.4 activity. In almost every fiber there were multiple areas of focal decrease of oxidative enzyme activity, resembling in a few the lesion described in central core disease. There was absence of mitochondria and disorganization of the sarcomere with streaming of the Z line within the lesions. The clinical and histological observations were closely similar to cases first described by A. G. Engel et al. in (1971) as multicore disease and to other similar reported cases.