MR findings of Werdnig-Hoffmann disease in two infants.
We report two infants with Werdnig-Hoffmann disease diagnosed by means of spinal MR imaging, histopathologic examination of muscle biopsy specimens, cloned DNA analysis, electrophysiological examination, and clinical history. The MR findings were consistent with previous histopathologic reports.
Hsu
C F
CF
Department of Pediatrics, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan, Republic of China.
Chen
C Y
CY
Yuh
Y S
YS
Chen
Y H
YH
Hsu
Y T
YT
Zimmerman
R A
RA
D001284:Atrophy; D004576:Electromyography; D004594:Electrophysiology; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D018485:Muscle Fibers, Skeletal / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology