HIGH SERUM CREATINE-KINASE LEVELS ASSOCIATED WITH CYLINDRICAL SPIRALSAT MUSCLE BIOPSY

We studied the muscle biopsy from an asymptomatic patient with high se rum creatine kinase values. Subsarcolemmal and intermyofibrillar granu lar inclusions were seen at the light microscopy level. Ultrastructura l observation showed clusters of cylindrical spirals (CS). CS are a no nspecific, morphological finding, so far reported only in a few cases, presenting with a wide variety of clinical phenotypes. The case we de scribe is peculiar because of the complete lack of clinical symptoms. The nature of the CS is unknown; we studied a possible alteration of c ytoskeletal proteins using a set of different antibodies against these structures, but none of them reacted with CS. Also, since CS have bee n described in association with mitochondrial abnormalities, and since in our case CS were strongly positive when stained for succinate dehy drogenase, we performed specific immunohistochemical and genetic studi es which ruled out any major mitochondrial alterations.