High serum creatine kinase levels associated with cylindrical spirals at muscle biopsy.
We studied the muscle biopsy from an asymptomatic patient with high serum creatine kinase values. Subsarcolemmal and intermyofibrillar granular inclusions were seen at the light microscopy level. Ultrastructural observation showed clusters of cylindrical spirals (CS). CS are nonspecific, morphological finding, so far reported only in a few cases, presenting with a wide variety of clinical phenotypes. The case we describe is peculiar because of the complete lack of clinical symptoms. The nature of the CS is unknown; we studied a possible alteration of cytoskeletal proteins using a set of different antibodies against these structures, but none of them reacted with CS. Also, since CS have been described in association with mitochondrial abnormalities, and since in our case CS were strongly positive when stained for succinate dehydrogenase, we performed specific immunohistochemical and genetic studies which ruled out any major mitochondrial alterations.
Rapuzzi
S
S
Centro Dino Ferrari, Istituto di Clinica Neurologica, Università degli Studi di Milano, Italy.
Prelle
A
A
Moggio
M
M
Rigoletto
C
C
Ciscato
P
P
Comi
G
G
Francesca
F
F
Scarlato
G
G
D000328:Adult; D015139:Blotting, Southern; D015153:Blotting, Western; D003402:Creatine Kinase / Q000097:blood*; D003598:Cytoskeletal Proteins / Q000378:metabolism; D004247:DNA / Q000032:analysis; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008854:Microscopy, Electron; D008931:Mitochondria, Muscle / Q000378:metabolism; D009124:Muscle Proteins / Q000378:metabolism; D018482:Muscle, Skeletal / Q000473:pathology* / Q000648:ultrastructure; D010641:Phenotype
D003598:Cytoskeletal Proteins; D009124:Muscle Proteins; D004247:DNA; D003402:Creatine Kinase