CT manifestations of Menkes' kinky hair syndrome (trichopoliodystrophy).
A patient with Menkes' syndrome is reported. This patient has survived to the age of six years without mental retardation, and shows previously unreported computed tomographic (CT) findings of tortuous vessels and unusual osseous manifestations of undertubulation of long bones and posterior vertebral body scalloping.
D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000473:pathology; D001928:Brain Diseases, Metabolic / Q000000981:diagnostic imaging*; D002570:Ceruloplasmin / Q000097:blood; D002648:Child; D003300:Copper / Q000097:blood / Q000627:therapeutic use; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000000981:diagnostic imaging* / Q000188:drug therapy / Q000473:pathology; D014057:Tomography, X-Ray Computed
D003300:Copper; D002570:Ceruloplasmin