Myopathic involvement in two cases of Hallervorden-Spatz disease.
Muscle biopsy was performed in two patients with Hallervorden-Spatz disease and increased serum creatine kinase levels. Morphological analysis showed myopathic signs such as subsarcolemmal accumulation of myeloid structures, dense bodies and debris, endomysial macrophage activation, focal necrosis and fiber splitting. We emphasize the finding of muscle involvement in Hallervorden-Spatz disease, like in other forms of neuroacanthocytosis.
Malandrini
A
A
Institute of Neurological Sciences, University of Siena, Nuovo Policlinico Le Scotte, Italy.
Bonuccelli
U
U
Parrotta
E
E
Ceravolo
R
R
Berti
G
G
Guazzi
G C
GC
D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008855:Microscopy, Electron, Scanning; D018482:Muscle, Skeletal / Q000473:pathology; D009135:Muscular Diseases / Q000473:pathology* / Q000523:psychology; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000473:pathology* / Q000523:psychology