Menkes kinky hair disease with 'ragged red' fibers.
A 30-month-old infant with Menkes kinky-hair disease died, with prominent vascular, cerebral and cerebellar degeneration. Increased numbers of mitochondria containing homogeneous dense bodies were seen on electron-microscopic examination of Purkinje cells. Subsarcolemmal aggregates of mitochondria ('ragged red' fibers) were present in skeletal muscle. These mitochondrial alterations support the hypothesis that copper deficiency results in mitochondrial encephalomyopathy.
Morgello
S
S
Department of Pathology (Neuropathology), New York Hospital-Cornell University Medical Center, NY 10021.
Peterson
H D
HD
Kahn
L J
LJ
Laufer
H
H
D001369:Axons / Q000648:ultrastructure; D001921:Brain / Q000473:pathology*; D001928:Brain Diseases, Metabolic / Q000473:pathology*; D006801:Humans; D007223:Infant; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000473:pathology*; D008854:Microscopy, Electron; D008931:Mitochondria, Muscle / Q000648:ultrastructure*; D009132:Muscles / Q000473:pathology; D011689:Purkinje Cells / Q000648:ultrastructure; D013367:Submitochondrial Particles / Q000648:ultrastructure*