School of Myology - Workshop - Class
2002
Case No.6
Clinical Setting
Male adult. 30 yo. Delayed motor milestones.
Difficulties in walking and running. Normal CK.
Pathology
Microscopy
HE and
Gomori stains show fibers varying in size,
rounded, slightly angulated.
Frozen sections stained with
NADH deshydrogenase, and SDH:
nearly al fibers show areas of central clearing (core) and enzymatic
activity is absent from all cores.
Enzymatic fiber typing seems
absent with ATPase at different pH.
Proposed diagnosis
Congenital myopathy: Central core disease.
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