ISSN:
1432-1920
Keywords:
Menkes disease
;
Ultrasonography
;
CT scan
;
MR images
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Summary The patient developed myoclonic seizures at 3 months of age and his hair demonstrated the pili torti pattern. The low serum copper content and ceruloplasmin confirmed the diagnosis of Menkes disease. The characteristic signs on the images were: high echo level regions in the cerebrum as detected by brain ultrasonography, low density areas of white matter detected by CT scan, and low signal intensities of white matter by both T1 and balanced MR images.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00593944
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